Clinical Diagnosis of

Congenital Heart Disease

 Clinical Diagnosis of
Congenital Heart Disease

Editor
M Satpathy MD DM
Former Professor of Cardiology
Haripur Road, Dolamundai
Cuttack (Orissa)
India

Co-editor
BR Mishra MD DM
Cardiologist, EKO Imaging Institute
Mangalabag, Cuttack (Orissa)
India

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Clinical Diagnosis of Congenital Heart Disease

© 2008, M Satpathy
All rights reserved. No part of this publication and should be reproduced, stored in a retrieval system, or transmitted in
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permission of the editor and the publisher.

This book has been published in good faith that the material provided by contributors is original. Every effort is made
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error(s). In case of any dispute, all legal matters are to be settled under Delhi jurisdiction only.

First Edition : 2008

ISBN 81-8448-161-6
Typeset at JPBMP typesetting unit
Printed at Gopson Papers Ltd, A-14, Section 60, Noida
 Dedicated
to
the memory of my parents
 Contributors
AK Bhattacharyya MD DM CG Bahuleyan MD DM
Professor and Head of Cardiology Former Professor and Head of Cardiology
Guwahati Medical College, Guwahati Trivendrum Medical College, Trivendrum

AK Samal MD DM G Rajesh
Department of Cardiology, VSS Medical College Department of Cardiology, Kottayam Medical College
Burla Kottayam

AN Patnaik MD DM DNB HN Mishra MD DM

Associate Professor of Cardiology Professor of Cardiology, SCB Medical College
Nizam’s Institute of Medical Sciences, Hyderabad Cuttack

Anita Saxena MD DM IB Vijayalakshmi MD DM FICC FICP

Professor of Cardiology Head of Pediatric Cardiology
All India Institute of Medical Sciences, New Delhi Jayadeva Institute of Cardiology
Bengaluru
B Dalvi MD DM FACC (USA)
Consultant Cardiologist, Glenmark Cardiac Centre J Yusuf MD DM
Mumbai Department of Cardiology, GB Pant Hospital
New Delhi
Balu Vaidyanathan MD DM
Department of Pediatric Cardiology K Sharada MD DM
Amrita Institute of Medical Sciences and Research Centre Consultant Cardiologist, Care Hospitals
Kochi Hyderabad

BR Mishra MD DM M Behera MD DM
Cardiologist, EKO Imaging Institute, Mangalabag Professor and Head of Cardiology
Cuttack (Orissa) SCB Medical College, Cuttack

BRJ Kannan MD DM M Jayarajah MD DM

Department of Pediatric Cardiology, Amrita Institute of Professor of Cardiology, Sri Ram Chandra Hospital
Medical Sciences and Research Centre, Kochi Cardiac Care Centre, Chennai

C Mahadevan M Satpathy MD DM
Department of Cardiology, Ramaiah Heart Centre Former Professor of Cardiology, Haripur Road
MS Ramaiah Medical College, Bengaluru Dolamundai, Cuttack (Orissa)

CD Gupta MD DM ML Kulkarni MD FIAP FAMS FCPCC (London)

Former Professor and Head of Cardiology Professor and Head of Pediatric
Jammu Medical College, Jammu JJAM Medical College, Davangere, Karnataka
 viii Clinical Diagnosis of Congenital Heart Disease

N Desai MD DM FACC FICC S Venkatesh DNB DCH

Director, Ramaiah Heart Centre Lecturer, Division of Pediatric Cardiology
MS Ramaiah Medical College, Bengaluru BJ Wadia Hospital for Children, Mumbai
N Sudhayakumar MD DM
SK Trivedi MD DM
Professor and Head of Cardiology
Professor and Head of Cardiology
Kottayam Medical College, Kottayam
Gandhi Medical College, Bhopal
Naveen Garg MD DM MNAMS FACA (USA)
Department of Cardiology SN Rahiman
Sanjay Gandhi Postgraduate Institute of Medical Science Department of Pediatrics
Lucknow JJAM Medical College, Davangere, Karnataka
PC Manoria MD DM FCCP FICP FICN FICA (USA) SN Routray MD DM
Former Professor and Head Department of Cardiology Assistant Professor Cardiology
Gandhi Medical College, Bhopal SCB Medical College, Cuttack
PK Dash MD DM
SR Anil DCH MD DNB (Ped) DNB (Card)
Head, Department of Cardiology
Consultant Pediatric Cardiologist
Sri Sathya Sai Higher Institute of Medical Sciences
Apollo Hospital, Hyderabad
Bengaluru
PK Pati MD DM SR Mittal MD DM FAMS FICP FISC (Cardiology)
Department of Cardiology, CMC, Vellore Professor and Head of Cardiology
Jawaharlal Nehru Medical College, Ajmer
PR Gupta MD DM
Professor and Head, Department of Cardiology SS Prabhu MD DCH
Institute of Medical Sciences Professor, Division of Pediatric Cardiology
Banaras Hindu University, Varanasi BJ Wadia Hospital for Children
Mumbai
R Juneja MD DM
Department of Cardiology Sunita Maheshwari ABP ABPC (USA)
All India Institute of Medical Sciences, New Delhi Consultant Pediatric Cardiologist
R Kumar Narayana Hrudayalaya, Bengaluru
Department of Cardiology
UA Kaul MD DM
Ramaiah Heart Centre
Former Professor and Director
MS Ramaiah Medical College
Department of Cardiology, GB Pant Hospital
Bengaluru
New Delhi
Rohit Manojkumar MD DM
V Gouthami MD DM DNB
Department of Cardiology
Department of Cardiology
PGI, Chandigarh
Nizam’s Institute of Medical Sciences
S Guha Dip Card MD DM Hyderabad
Associate Professor, Department of Cardiology
Kolkata Medical College, Kolkata VS Prakash MD DM
Associate Professor and Chief, Division of Cardiac
S Shah Electrophysiology/Cardiac Pacing
Department of Cardiology MS Ramaiah Medical Teaching Hospital
All India Institute of Medical Sciences, New Delhi Bengaluru
 Preface
Congenital heart disease is generally thought to be a difficult and challenging subject. Due to limitations of diagnostic
facilities and suitable treating hospitals, many souls have departed their bodies prematurely, undiagnosed and untreated.
Physicians, pediatricians and cardiologists give less attention to congenital heart diseases, as this branch of cardiovascular
science is less alluring and rewarding.
As a teacher when I aimed at the postgraduate students in medicine I found there is a definite place for a book on
congenital heart disease which should be comprehensive and also with strong clinical bias because it is essential on the
part of treating physicians caring for the newborn, the infant and the children to have early diagnosis with accuracy so as
to prevent high morbidity and mortality. Recently many pediatric cardiology units have come up and tremendous advances
in percutaneous interventions and surgical techniques have been made, so the outlook for congenital heart disease looks
brighter today. As a matter of fact, without basic knowledge of anatomy and pathophysiology it is difficult to develop a
clinical acumen to make early accurate diagnosis. Further, correct interpretation of recent investigatory procedures will
be more difficult. Early diagnosis, initiation of treatment with existing facilities and decision for referral to a standard
cardiac center at the right time can definitely save many precious lives.
Although, there are many books available on this subject, they are referral books of very high standard and are
expensive for individual possession. Keeping this in mind, I felt the need of a book on congenital heart disease, which can
be affordable and cater to the basic need of postgraduate students, medical teachers, pediatricians and practicing
cardiologists.
Prominent cardiologists across the country have contributed many chapters from their vast experience and knowledge.
I have attempted to describe all aspects of these congenital heart diseases in a uniform pattern. Elaborate description has
been made on common diseases. Illustrations with simple hand drawn sketches are given wherever necessary depicting
the abnormal anatomy and pathophysiological consequences for clear understanding of the anomaly. Controversial points
and details of advanced imaging modalities are deliberately omitted. I have made a sincere effort to use simple teaching
language and clear description of the basic clinical findings. Wherever necessary the mechanisms are explained using
short bracketed notes. I have tried to keep a link between pre-echo era and present day investigatory tools as regards
clinical diagnosis is concerned.
Being a basically clinical book, management of diseases are described in brief (elaborate management schedules are
beyond the scope of this book).
References are deliberately omitted to reduce the bulk of the book, as ready references are available in these days of
advance information technology. A separate chapter is included on the incidence of congenital heart disease in India and
the present status of management facilities available across the country.
I have put my hard and sincere efforts in giving a definite shape to this book. My dream and vision will be fulfilled if
this book becomes useful for the students of medicine, pediatrics and physicians dealing with cardiovascular science
related to congenital heart disease.

M Satpathy
 Acknowledgements

I am greatly indebted to my late teachers Dr PL Wahi, Dr PS Bidwai and Dr HN Khattri whose art of teaching convinced
the students that reaching at a correct bedside diagnosis in Congenital Heart Disease is not that difficult. I owe my
gratitude to all my teachers particularly to Dr U Kaul and Dr JP Das. Their master teaching on the subject gave me the
inspiration for writing a clinical book for the students of medicine.
I am grateful to all the contributors for their benevolent and valuable contribution to make this book a reality. My
special thanks to Dr BK Mahala of Narayana Hrudayalaya, Bengaluru, Dr Sanat Kumar Sahoo, Cuttack, Dr AN Patnaik of
Nizam’s Institute of Medical Sciences, Hyderabad and Dr PK Dash, Sri Sathya Sai Institute of Higher Medical Sciences,
Bengaluru for their unhesitant help and inspiration from time to time.
I owe a debt to Dr SR Anil, Apollo Hospital, Hyderabad, Dr PK Pati, CMC, Vellore, Dr DB Tonpe, Dr M Behera and
Dr SS Mishra, Cuttack for providing their clinical materials for my use. I thank Dr Swarupa Panda for her timely help.
My daughters Sanghamitra and Anuradha and their husbands Bhawani and Debasis deserve special thanks for their
constant encouragement for the last three years. I must thank my wife Swachhala and youngest daughter Madhulekha
and her husband Rajesh for their full-hearted cooperation and patience all throughout the period of preparing the manuscript.
It is my pleasure to thank our secretarial assistants Mr Jyoti K Nanda and Mr Sanat Nayak, who have taken all pains
from beginning to the end to complete this hard task.
My special thanks to my Co-editor Dr BR Mishra particularly for preparing schematic diagrams depicting diseases for
better and easier understanding of students. It is a rare combination that not only he is a cardiologist but also an excellent
artist. I also thank Dr Gitanjali Kar wife of Dr Mishra for her whole hearted cooperation.
I am grateful to Shri Jitendar P Vij (CMD), M/s Jaypee Brothers Medical Publishers (P) Ltd., New Delhi. My special
thanks to Mr Tarun Duneja (General Manager Publishing), Mr PS Ghuman (Sr Production Manager) and Mrs Samina
Khan for their kind cooperation throughout the period. I also thank Mr Sukhdev Prasad (DTP Operator) and Mr Rakesh
Verma (Graphic Designer) for their unhesitant help to complete the work in time and finally my sincere thanks to all the
associates of the company.
 Contents

PART ONE: BASIC

1. Basic Embryology of Congenital Heart Diseases ................................................................................................ 3
ML Kulkarni, SN Rahiman
2. Fetal and Neonatal Circulation ........................................................................................................................... 11
AK Samal, BR Mishra
3. Bedside Diagnosis and Classification of Congenital Heart Diseases ............................................................. 14
IB Vijayalakshmi, M Satpathy
4. Electrocardiogram—Clinically Relevant to Congenital Heart Diseases ........................................................ 27
ML Kulkarni, M Satpathy
5. Radiological Diagnosis of Congenital Heart Diseases ...................................................................................... 33
K Sharada, V Gouthami

PART TWO: ACYANOTIC LESIONS

6. Clinical Approach to Diagnosis of Cardiac Malpositions ................................................................................. 45
M Behera, BR Mishra
7. Left Ventricular Inflow Obstruction .................................................................................................................. 53
B Dalvi, S Venkatesh, SS Prabhu
8. Mitral Valve Prolapse ........................................................................................................................................... 60
PC Manoria, SK Trivedi
9. Congenital Mitral Regurgitation ........................................................................................................................ 67
M Satpathy
10. Primary Endocardial Fibroelastosis .................................................................................................................... 71
M Satpathy
11. a. Atrial Septal Defect (Secundum Type) .......................................................................................................... 74
PK Dash, M Satpathy
b. Atrial Septal Defect (Primum Type) .............................................................................................................. 83
Sunita Maheshwari
c. Atrial Septal Defect (Sinus Venous Type) .................................................................................................... 87
Sunita Maheshwari, M Satpathy
d. Atrial Septal Defect (Coronary Sinus Type) ................................................................................................. 89
Sunita Maheshwari, M Satpathy
12. Atrial Septal Defect with Associated Common Anomalies ............................................................................. 91
M Satpathy
13. a. Ventricular Septal Defect ............................................................................................................................... 98
PR Gupta, M Satpathy
b. Ventricular Septal Defect with Aortic Regurgitation ................................................................................ 108
BR Mishra
 xiv Clinical Diagnosis of Congenital Heart Disease

c. Ventricular Septal Defect with Pulmonary Stenosis ................................................................................. 111

M Satpathy
d. Left Ventricle to Right Atrial Communication .......................................................................................... 113
M Satpathy
14. Patent Ductus Arteriosus .................................................................................................................................. 115
M Jayarajah, M Satpathy
15. Aorto-pulmonary Window ................................................................................................................................. 124
CG Bahuleyan
16. Complete Atrioventricular Septal Defect ........................................................................................................ 129
R Juneja, S Shah
17. a. Congenital Aortic Stenosis ........................................................................................................................... 143
S Guha, M Satpathy
b. Congenital Aortic Regurgitation .................................................................................................................. 156
M Satpathy
18. Coarctation of the Aorta ................................................................................................................................... 160
N Sudhayakumar, BSJ Nair, M Satpathy
19. Aneurysms of Sinuses of Valsalva ................................................................................................................... 170
UA Kaul, J Yusuf
20. a. Congenital Coronary Artery Anomalies ..................................................................................................... 178
BR Mishra
b. Congenital Coronary Arterial Fistula ......................................................................................................... 182
CG Bahuleyan
c. Anomalous Left Main Coronary Artery from the Pulmonary Artery .................................................... 187
Naveen Garg
21. Aortic Arch Anomalies and Vascular Rings ................................................................................................... 192
BR Mishra, M Satpathy
22. a. Congenital Pulmonary Stenosis ................................................................................................................... 199
N Desai, R Kumar, C Mahadevan, VS Prakash
b. Congenital Pulmonary Regurgitation ......................................................................................................... 208
N Desai, R Kumar, C Mahadevan, VS Prakash
c. Idiopathic Dilatation of Pulmonary Trunk ................................................................................................. 212
BR Mishra
d. Peripheral Pulmonary Artery Stenosis ....................................................................................................... 214
BR Mishra
23. Congenitally Corrected Transposition of Great Arteries .............................................................................. 218
Rohit Manojkumar

PART THREE: CYANOTIC LESIONS

24. Common Atrium ................................................................................................................................................ 227
M Satpathy
25. Tricuspid Atresia ................................................................................................................................................ 230
SR Mittal
26. Ebstein’s Anomaly .............................................................................................................................................. 240
AK Bhattacharyya, M Satpathy
 Contents xv

27. Pulmonary Atresia with Intact Ventricular Septum ...................................................................................... 249

V Gouthami
28. a. Tetralogy of Fallot .......................................................................................................................................... 257
PK Pati
b. Absent Pulmonary Valve Syndrome ............................................................................................................ 268
BR Mishra
c. Pulmonary Stenosis with Interatrial Septal Defect ................................................................................... 270
M Satpathy
29. Pulmonary Atresia with Ventricular Septal Defect ....................................................................................... 273
V Gouthami, M Satpathy
30. Double Outlet Right Ventricle .......................................................................................................................... 280
AN Patnaik
31. Single Ventricle .................................................................................................................................................. 290
AN Patnaik
32. Truncus Arteriosus ............................................................................................................................................. 297
Anita Saxena
33. Complete Transposition of the Great Arteries ............................................................................................... 304
Rohit Manojkumar, M Satpathy
34. Hypoplastic Left Heart Syndrome .................................................................................................................... 312
N Sudhayakumar, G Rajesh
35. Total Anomalous Pulmonary Venous Connections ........................................................................................ 317
CD Gupta, M Satpathy
36. Anomalous Systemic Venous Connections ..................................................................................................... 325
BR Mishra
37. Congenital Pulmonary Arteriovenous Fistula ................................................................................................ 331
SN Routray, BR Mishra
38. Complete Interruption of Aortic Arch ............................................................................................................. 335
BR Mishra, M Satpathy
39. Eisenmenger Syndrome ..................................................................................................................................... 339
SR Anil, M Satpathy

PART FOUR: Miscellaneous

40. Fetal Echocardiography ...................................................................................................................................... 351
HN Mishra, BR Mishra
41. Transcatheter Interventions in Congenital Heart Diseases ......................................................................... 355
BRJ Kannan
42. Congenital Heart Disease in India ................................................................................................................... 361
Balu Vaidyanathan

Index ..................................................................................................................................................................... 367

 Abbreviations
A2 — Aortic component of second heart sound
AA — Aortic arch
AF — Atrial fibrillation
ALCAPA — Anomalous left coronary artery from pulmonary artery
AMI — Acute myocardial infarction
Ao — Aorta
AP window — Aorto pulmonary window
AR — Aortic regurgitation
AS — Aortic stenosis
ASD — Atrial septal defect
AV — Aortic valve
AV valve — Atrioventricular valve
AVSD — Atrioventricular septal defect
BP — Blood pressure
CA — Common atrium
CHB — Complete heart block
CHD — Congenital heart disease
CHF — Congestive heart failure
CoA — Coarctation of aorta
cTGA/l-TGA — Congenitally corrected transposition of great arteries
DOLV — Double outlet left ventricle
DORV — Double outlet right ventricle
DTGA — Dextro-transposition of great arteries
ECG — Electrocardiogram
ECD — Endocardial cushion defect
EDM — Early diastolic murmur
ESM — Ejection systolic murmur
FiO2 — Fractional inspired oxygen
HCM — Hypertrophic cardiomyopathy
HLHS — Hypoplastic left heart syndrome
ICU — Intensive care unit
IVC — Inferior vena cava
JVP — Jugular venous pulse
LA — Left atrium
LAD — Left anterior descending (artery)
LAE — Left atrial enlargement
LBBB — Left bundle branch block
LCA — Left coronary artery
LCX — Left circumflex (artery)
LPA — Left pulmonary artery
xviii Clinical Diagnosis of Congenital Heart Disease

LPSB — Left parasternal border

LSB — Left sternal border
LSVC — Left superior vena cava
LV — Left ventricle
LVF — Left ventricular failure
LVH — Left ventricular hypertrophy
LVIO — Left ventricular inflow obstruction
LVOT — Left ventricular outflow tract
M1 — Mitral component of first heart sound
MPA — Main pulmonary artery
MR — Mitral regurgitation
MRI — Magnetic resonance imaging
MS — Mitral stenosis
MVP — Mitral valve prolapse
MVR — Mitral valve replacement
P2 — Pulmonary component of second heart sound
PA — Pulmonary artery
PA — Pulmonary atresia
PAH — Pulmonary arterial hypertension
PAPVC — Partial anomalous pulmonary venous communication
PDA — Patent ductus arteriosus
PFO — Patent foramen ovale
PND — Paroxysmal nocturnal dyspnea
PPH — Primary pulmonary hypertension (arterial)
PR — Pulmonary regurgitation
PS — Pulmonary stenosis
PSM — Pansystolic murmur
PV — Pulmonary vein
PVH — Pulmonary venous hypertension
RA — Right atrium
RAE — Right atrial enlargement
RBBB — Right bundle branch block
RCA — Right coronary artery
RHD — Rheumatic heart disease
RPA — Right pulmonary artery
RSOV — Rupture of sinus of Valsalva aneurysm
RV — Right ventricle
RVF — Right ventricular failure
RVH — Right ventricular hypertrophy
RVOT — Right ventricular outflow tract
S1 — First heart sound
S2 — Second heart sound
S3 — Third heart sound
S4 — Fourth heart sound
SV — Single ventricle
 Abbreviations xix

SVC — Superior vena cava

SVT — Supraventricular tachycardia
T1 — Tricuspid component of first heart sound
TA — Tricuspid atresia
TAPVC — Total anomalous pulmonary venous communication
TEE — Trans esophageal echocardiography
TGA/dTGA — Complete transposition of great arteries
TS — Tricuspid stenosis
TTE — Transthoracic echocardiography
TR — Tricuspid regurgitation
VSD — Ventricular septal defect
WPW — Wolff-Parkinson-White syndrome
 1 Basic Embryology of
Congenital Heart Diseases
ML Kulkarni, SN Rahiman

It is essential to have a sound knowledge of embryology of
the heart. It helps us to understand better the anatomical
defects and their implications on circulatory physiology.
Recent years has brightened the scope of understanding
the underneath factors leading to congenital heart diseases.
Microscopy, experimental models and various advanced
genetic techniques have revealed more facts in the last few
decades.
In this chapter, an attempt has been made to understand
some basic principles underlying the development of heart,
which will be described under the following subheadings
(though it must be realized that such a compartmentation
is only for convenience of understanding). It should not
over-rule the complexity of the subject.
1. Primitive heart tube formation
2. Looping
3. Wedging
4. Septation of the atria
5. Development of the atrioventricular valves
6. Development of the aortic and pulmonary trunks
7. Development of aorta and its branches.
Cardiovascular development is an early requirement of
the growing embryo. It occurs from day 18 to 12 weeks
of intrauterine life.
a cephalic direction and unite anteriorly to form a horseshoe
shaped plexus of small blood vessels.
The two lateral groups then fuse ventrally in the midline
to form the primary or the primitive heart tube (Fig. 1.1). It
has an inner endocardium and an outer myocardium
separated by the cardiac jelly.
Between the 21st and 24th day, the primitive heart tube
subdivides from below upwards into right and left horns of
sinus venosus, sinus venosus proper, primitive atrium,
primitive ventricle and bulbus cordis (Fig. 1.2).
Into each horn of sinus venosus three bilateral venous
systems drain. From lateral to medial they are the cardinal,
the umbilical and the vitelline veins (Fig. 1.3).
Abnormal Development during
the Formation of Heart Tube
Abnormality at this stage almost always results in embryonic
death because of the critical nature of the early circulation
to the further growth and development.

FROM FERTILIZATION TO
PRIMITIVE HEART TUBE
The entire cardiovascular system develops from the
mesoderm. At 18 days of life, diffusion alone is insufficient
to meet the nutritional demands of the rapidly developing
embryo. Hence the anterolateral plate of mesoderm present
over the yolk sac, the connecting stalk and the body of the
embryo differentiates to form angioblasts. Angioblasts form
endothelial cell clusters called angiocytes. These spread in Fig. 1.1: Formation of primitive heart tube
 4 Clinical Diagnosis of Congenital Heart Disease
Fig. 1.2: Subdivisions of the primary heart tube (AA—aortic
arch, BC—bulbus cordis, PV—primitive ventricle,
PA—primitive atrium, SV—sinus venosus)
Note: BMP (bone morphogenetic protein), a growth factor from
the transforming growth factor (TGF) class, is responsible for
early cardiogenesis.
FROM PRIMITIVE HEART
TUBE THROUGH LOOPING
The heart is the first organ to break the bilateral symmetry
of the early embryo. A differential growth begins which
allows a posterior leftward slow growth and anterior
rightward fast growth. This leads to rightward or
dextrolooping due to which the future right ventricle comes
to the front and right of future left ventricle (Fig. 1.3).
Further disproportionate growth occurs resulting in bending
of the heart tube at atrioventricular junctions.
Eventually, the inflow tract and future left ventricle are
posterior and to left. The outflow tract and future right
ventricle remain anterior and to the right (Fig. 1.4).
Abnormal Development during Looping
Mirror image reversal of the normal left-right asymmetry
is often associated with normal organ development, i.e.
Fig. 1.3: The three paired bilateral venous systems (AA—aortic
arch, BC—bulbus cordis, PV—primitive ventricle,
PA— primitive atrium, TA—truncus arteriosus, SV—sinus
venosus, CCV—common cardinal vein, UMV—umbilical vein,
VV—vitelline vein). The curved arrows point towards the
direction of looping
Dextrocardia with situs inversus totalis infrequently have
associated complex defects. Discordance of thoracic and
visceral asymmetry universally results in defective
organogenesis. For example, Heterotaxy syndromes which
often have complex cardiac anomalies.
Abnormality of looping alone, i.e. Levo-looping with
normal development of outflow tract results in ventricular
inversion, i.e. right ventricle receives from left atrium and
left ventricle receives from right atrium.
Abnormality of looping as well as outflow tract
development may lead to corrected transposition of the great
vessels. Here exists both ventricular inversion as well as
transposition of the great vessels. This is a physiological
correction where the systemic venous blood reaches the
lungs through right atrium, morphological left ventricle and
the pulmonary artery. Oxygenated blood returns back to
the systemic circulation through the left atrium, morpho-
logic right ventricle and aorta. Without other defects,
hemodynamics is normal.
Note: A molecule CARONTE, inhibits BMP on the left side but
not on the right side. More growth occurs on right side resulting
in dextrolooping.
 Basic Embryology of Congenital Heart Diseases
Fig. 1.4: Dorsal view of looping. The arrows are showing
towards the direction of looping (AA—aortic arch, BC—bulbus
cordis, PV—primitive ventricle, PA—primitive atrium,
TA—truncus arteriosus, SV—sinus venosus, CCV—common
cardinal vein, UMV—umbilical vein, VV—vitelline vein)
FROM LOOPING TO WEDGING
The primitive ventricle grows centrifugally from the greater
curvature of cardiac loop. At this point, the inflow tract
has access only to the left ventricle; where as right ventricle
has access only to the outflow tract. Two very important
processes now begin to occur.
a. Convergence The inflow constriction (future atrio-
ventricular canal) and bulbus cordis converge more
towards each other. Simultaneously, the atria are
expanding centrifugally and atrioventricular canal
septation is taking place.
b. Wedging The septated atrioventricular canal moves to
the right and each orifice lies over its future respective
ventricle. The bulbus cordis shifts leftwards such that
a part of the outlet sits over the left ventricle and rest
sits over the right ventricle.
After convergence and wedging, each ventricle has
gained access to both inflow and outflow tracts.
Now, the ventricular septum development begins. The
interventricular septum grows upwards from the floor of
5
Fig.1.5: Development of the ventricular septum (MV—mitral
valve, LV—left ventricle, TV—tricuspid valve, MVS—memb-
ranous ventricular septum, and MUVS—muscular ventricular
septum)
the bulboventricular cavity. The bulbar septum grows
downwards to partially reach the interventricular septum.
Still, a gap remains between the two which is eventually
filled by growth of atrioventricular cushions (Fig. 1.5).
Abnormal Development during Wedging
Abnormalities of looping and convergence can results in
inflow malalignment—double inlet left ventricle or outflow
malalignment—double outlet right ventricle.
Only abnormal wedging results in double outlet right
ventricle.
Failure of ventricular septation and trabeculations results
at single ventricle or hypoplasia of one or both ventricles.
Ventricular septal defects originate during this stage.
SEPTATION OF THE ATRIA
Before atrial septation begins, two events must take place.
1. Transfer of the original three paired bilaterally systemic
venous inflow systems to the right side of the heart.
2. Incorporation of pulmonary venous inflow to left atrium.
Initially two anastomotic channels develop to transfer
blood from left side of the body to right. Brachiocephalic
vein in the head, which transfers all blood from left cardinal
to right cardinal vein and ductus venosus in the body,
transfers blood from left umbilical vein to the right vitelline
 6 Clinical Diagnosis of Congenital Heart Disease

Figs 1.6.A to D: (A) Veins draining into sinus venosus as viewed from behind, (B) anastomosis between anterior cardinal vein,
(C) involution of left cardinal vein and incorporation of sinus venosus into right atrium, (D) major veins join sinus venosus
(PA—Primitive atrium, TA—truncus arteriosus, BC—bulbus cordis, ACV, PCV, CCV—anterior, posterior and common cardinal
veins respectively, UV—umbilical vein, VV—vitaline vein, SV—sinus venosus, AV—azygos vein)

vein and eventually to sinus venosus. Simultaneously, there
occurs regression of both distal vitelline systems, both
proximal umbilical veins, proximal left vitelline vein and
distal right umbilical vein (Fig. 1.6).
The sinoatrial junction shifts rightwards to open into
right half of common atrium. This results in regression of
left sinus horn, which eventually becomes the coronary
sinus.
The pulmonary venous system develops from the left
posterior wall of the left atrium, initially as a single primary
pulmonary vein. It then extends towards the developing
lung buds. The lung buds are posterior to the heart and
derive blood from the splanchnic plexus. The pulmonary
vein grows posteriorly and superiorly towards the
intrapulmonary venous plexus and once contact occurs,
blood flows into left atrium. The earlier connection with
the splanchnic plexus is then lost. The left atrium grows by
incorporating the primary pulmonary vein itself back into
the posterior wall. Eventually, four pulmonary veins draining
into left atrium are formed.
Now, septation of atria follows (Fig. 1.7). At the end of
4th week of development a thin crescent shaped septum
goes from the cranial aspect of primitive atrium and it
represents the first portion of septum primum. The opening
between the lower rim of the septum primum and
endocardial cushion is called the ostium primum. This ostium
 Basic Embryology of Congenital Heart Diseases 7

Figs 1.7A to D: Septum formation in the common atrium (SP—septum primum, OP—ostium primum,
EC—endocardial cushion, SS—septum secundum, FO—foramen ovale, AML—anterior mitral leaflet)

primum gradually gets obliterated when the growing septum
primum fuses with endocardial cushion. Before the septum
primum fuses with endocardial cushions, several
perforations develop in its mid portion that enlarge and
coalesce to form a single large opening the ostium secundum.
Another septum, the septum secundum then develops
along the cranial and posterior wall of the right atrium.
This septum which also has a crescent shaped leading edge
extends mid way along septum primum and its crescent
shaped lower margin form the foramen ovale. Usually the
septum secundum covers the ostium secundum. The
septum formation is completed in 34 days.
Abnormal Development During Atrial Septation
Complete failure of atrial septation results in development
of a common atrium often with both systemic and
pulmonary veins appearing bilaterally.
Failure of development of upper connecting
brachiocephalic vein results in bilateral superior vena cava
or persistence of left superior vena cava draining into the
coronary sinus.
Failure of development of septum primum results in
large secundum defects.
Failure of fusion of septum primum with the endocardial
cushions results in primum ASD.
Failure of fusion of septum secundum with the sinus
venosus results in the development of a sinus venosus ASD,
with or without anomalous pulmonary venous drainage.
Failure of connection between the primitive pulmonary
vein and the intrapulmonary venous complex results in
various forms of total or partial anomalous pulmonary
venous return.
Defective incorporation of the primitive pulmonary vein
into the left atrial wall results in cor triatriatum.
 8 Clinical Diagnosis of Congenital Heart Disease
Figs 1.8A and B: Stages of development of atrioventricular
valves (CAV—common atrioventricular canal, IVS—inter-
ventricular septum, SEC—superior endocardial cushion,
IEC—inferior endocardial cushion, LAVC—left atrioventricular
canal, RAVC—right atrioventricular canal)
DEVELOPMENT OF AV VALVES
Particulates known as “ADHERONS” accumulate in the
cardiac jelly in the region of atrioventricular and cono-
truncal valve formation. These adherons stimulate the
endocardial cells to transform cardiac jelly into
mesenchyme. This mesenchyme forms dorsal and ventral
Figs 1.9A to C: Sequential development of pulmonary artery and aorta: (A) Cono-truncus is divided with by a spiral septum,
(B) aorta and pulmonary artery develop with a spiral relation, (C) final shape of aorta (Ao), and pulmonary artery (PA)
outpouches. It further differentiates to form fibrous
connective tissue which finally forms the valves (Fig. 1.8).
Simultaneously cavitation and septation of ventricular
chambers are occurring. Papillary muscles develop and
attach to the valve leaflets through chordae tendinae.
Abnormalities during Development of Valves
• Atresia of one of the valves (Tricuspid atresia) and
Ebstein’s Anomaly.
• Atrioventricular septal defects.
• Abnormalities of papillary muscular attachment.
DEVELOPMENT OF AORTIC
AND PULMONARY TRUNKS
The cono-truncus, which is the common outflow tract,
has to separate into aortic and pulmonary outflow tracts.
Swellings appear from right and left sides and not from
dorsal and ventral wall. Similar transformation, as in
development of atrioventricular valves follows and results
in the formation of separate valves.
Neural crest cells migrate to the site of formation of
outflow septum. The septum develops from distal to
proximal and meets the endocardial cushions below to
separate the two semilunar valves. The septum is formed
in a spiral manner as shown in the Figure 1.9 to provide the
final anatomy of the great arteries.
 Basic Embryology of Congenital Heart Diseases 9

Figs 1.10A and B: Development of aorta and its branches: (A) four paired arches (I,II,III,IV) join to form descending aorta,
(B) paired I, II and V arches involute, paired III arches persist as common carotid arteries, right IV arch contribute to formation of
right subclavian artery, left IV arch forms aortic arch, pulmonary arteries develop from VI arch, ductus arteriosus form from the
proximal left VI arch

Abnormalities during Simultaneously, the pharyngeal arches are growing and each
Development of Great Arteries arch has a pair of aortic arch arteries. The first, second
• Complete absence of neural crest migration results in and fifth arches disappear. The third, fourth and sixth arches
persistence of truncus arteriosus. form the major components of central cardiovascular system
• Partial absence of neural crest migration produces (Fig. 1.10).
double outlet right ventricle, tetralogy of Fallot and double Abnormal Development during
inlet left ventricle. Formation of Great Arteries
• Asymmetrical division of the outflow tract orifice may
Failure of migration of neural crest cells into the aortic arch
result in stenosis of one of the valves.
arteries result in a wide variety of phenotypes.
Note: Neural crest migration plays a vital role in formation of • DiGeorge syndrome
outflow tracts and also in providing ventricles their myocardial • Velocardiofacial syndrome
contractility, which is necessary during looping.
• Catch 22
In fact, all cardiac tissues contain neural crest cells • Interrupted aortic arch
except the conducting system. • Truncus arteriosus
• Tetralogy of Fallot
DEVELOPMENT OF • Isolated ventricular septal defects
AORTA AND ITS BRANCHES • Aberrant subclavian artery and other subtle arch
Early in development, there are two paired lateral dorsal anomalies are the result of third or fourth aortic arch
aortae which fuse to form the descending aorta. defects
 10 Clinical Diagnosis of Congenital Heart Disease
• Interrupted aortic arch results from fourth arch defect
• Persistent ductus arteriosus and proximal pulmonary
atresia results from sixth arch artery defect.
Our understanding of cardiac embryology and pathology
has expanded dramatically with genetic investigations across
species from flies to human beings. Hence, classifications
based on anatomy alone are increasingly found wanting.
The clinician must be open to new associations and potential
deviations of seemingly unrelated congenital anomalies.
SALIENT FEATURES
1. During third week of embryonic life clusters of blood
and vessel forming capillaries appear in cardiogenic
area known as angioblastic islands.
2. During this 3rd week (18th day) the primitive heart tube
is formed by fusion of two endothelial tubes. It has inner
endocardium and outer myocardium which develop
from cardiac jelly.
3. Between 21st to 24th days, the primitive heart tube is
formed consisting of right and left horns of sinus venosus,
sinus venosus proper, primitive atrium, primitive
ventricle, bulbus cordis and truncus arteriosus from
below upwards.
4. The ventricular myocardium starts beating by fourth
week of embryonic life. Consequently atrial myocardium
develops which starts beating at a faster rate.
5. At the end of 4th week a downward growth from the
cephalic wall, known as septum primum divides the
primitive atrium into right and left. LA is derived from left
portion and RA is derived from right portion of the
primitive atrium. The septum primum fuses with
endocardial cushion below. Septum secundum then
develops on the right side of the septum primum to take
part in atrial septation that is completed by 34 days.
Foramen ovale is formed due to overlapping of these
two septa that allows blood to flow only from right to left
(RA to LA). Coronary sinus is formed by left horn and
body of the left sinus venosus.
6. The endocardial cushion divides the common AV canal
by proliferation of connective tissue into right and left
side from which mitral and tricuspid valves take origin.
7. During 6th week of intra uterine life the atrioventricular
node and its bundle develops from dorsal endocardial
cushion of atrioventricular canal. SA node develops
from sinus venosus, which starts beating at faster rate
and acts as a pacemaker. By the end of fetal life its
place is almost fixed which is close to the orifice of
SVC.
8. Interventricular septum (IVS) develops from three
sources, ventricular septum, the proximal bulbar septum
and septum intermedium. The septum intermedium is
responsible for the membranous part of the IVS and
proximal bulbar septum give rise to muscular part. The
muscular part gradually fuses with the downward
growing membranous septum completing the
interventricular septum by 38th to 45th days of gestation.
The trabecular cord like attachments in the ventricular
wall subsequently develop as chordae tendinae and
papillary muscles.
9. The outflow portion develops from right side of bulbus
cordis (conus) that is incorporated to primitive RV, which
connects RV to pulmonary artery. Inflow portion of RV
develops from right side of primitive RV. The inflow
(rough portion) of LV is formed from the left side of the
primitive ventricle. The outflow (smooth or aortic
vestibule) develops from dorsal portion of the bulbus
cordis that connects with aorta maintaining aorto-mitral
continuity.
10. The cono-truncus, which is the common outflow tract, is
separated by a spiral septum into aorta and pulmonary
trunk by the end of 9th week of gestation. The aortic
and pulmonary orifice is formed from dorsal and ventral
portion of bulbus cordis respectively. The semilunar
valves develop from swellings appearing from right and
left side of cono-truncus which ultimately give rise to
aortic and pulmonary valves.
11. The truncus arteriosus form the aortic sac, which give
rise to six pairs of aortic arches. The first second and
fifth arches disappear. The third arch form common
carotid and give rise to internal and external carotids.
Right fourth arch form right subclavian but the left
subclavian artery is formed from left seventh intercostal
artery. Aortic arch is formed by left fourth and left dorsal
arch during 4th to 5th weeks of gestation. Descending
aorta and abdominal aorta is formed by fusion of both
dorsal aortae. Pulmonary artery is formed from ventral
part of each sixth aortic arch. The dorsal part of left sixth
arch gives rise to ductus arteriosus.
12. Right common cardinal vein becomes a part of SVC at
its opening and right vitelline vein gives rise to the
terminal part of the IVC.
13. Cardiogenesis which starts about 18th day of gestation
is completed by 49th day, thereafter maturation process
goes on, even after birth.
 2 Fetal and Neonatal Circulation
AK Samal, BR Mishra

Knowledge of the fetal circulatory pathway and the

structures involved, play a key role in the understanding of
congenital heart diseases (CHD). With the sound
background knowledge of fetal circulation it is easier to
make prenatal diagnosis of congenital malformations by
fetal echocardiography.
Circulation begins through the developing heart at about
30 days of gestation when the fetus is only 4 mm long. A
complete four chambered heart is formed around 7 weeks
in a 20 mm fetus and it takes part in blood circulation. In
the fetus the lungs are not functioning, the blood vessels
inside it remain collapsed and constricted. The fetus depends
on the placenta for its respiratory function. In early stage
of fetal life minimal blood passes through lungs, only after
7th month of gestation when lung buds fully develop about
8 to 10 percent of fetal combined ventricular out put passes
through it. This amount of blood returns through pulmonary
veins to left atrium. The umbilical veins and umbilical arteries
maintain the placental circulation whereas the foramen ovale
and the ductus arteriosus serve as bypass channels to divert
major blood supply from the lungs to systemic circulation.
Such an arrangement makes the pulmonary and systemic
circulation to exist in parallel in contrast to adult circulation
where both the circulation exist in series (Fig. 2.1).
Oxygenated blood returning from the placenta is carried
through the umbilical vein. About half the umbilical venous
blood enter the hepatic circulation and then to the inferior
vena cava (IVC); rest half bypass the liver and enter the Fig. 2.1: Schematic diagram of fetal circulation, arrows point
inferior vena cava through the ductus venosus. PO2 in to direction of blood flow (LA—left atrium, LV—left ventricle,
umbilical vein is highest (32 mm of Hg). The right atrium RV—right ventricle, RA—right atrium, PA—pulmonary artery,
Ao—aorta, D—ductus arteriosus, SVC—superior vena cava,
receives the entire venous return through both the superior
IVC—inferior vena cava, HV—hepatic vein, LPA—left
and inferior vena cava. Inferior vena caval blood which pulmonary artery, DA—descending aorta, L—liver, UV—
contains oxygenated blood from the umbilical vein and umbilical vein, UA—umbilical artery, K—kidney, G—gut, P—
deoxygenated blood from the lower part of the body is placenta, DV—ductus venosus)
 12 Clinical Diagnosis of Congenital Heart Disease
selectively directed through the foramen ovale by the crista
dividens to the left atrium. The oxygen saturation of IVC
is 70 percent. The left-atrial blood mixes with the small
amount of blood coming from the lungs and then passes to
the left-ventricle through the mitral orifice into the ascending
aorta. This blood perfuses the coronary arteries, the
head and neck and the upper extremities leaving a
small amount to pass through the aortic isthmus to
the descending aorta. The superior vena caval blood which
is relatively less-oxygenated (oxygen saturation 40%) enters
the right atrium and preferentially flows to the right ventricle
through the tricuspid valve. Right ventricular blood is ejected
into the pulmonary artery. Since pulmonary arterial
circulation is vasoconstricted and resistance is high only
10 percent of the right ventricular outflow enters the lungs.
Approximately 90 percent of the blood passes through the
ductus arteriosus and enters into the descending aorta to
perfuse the lower part of the fetal body. This blood then
returns to the placenta through the two umbilical arteries
for purification. Oxygenated blood from placenta goes back
to the inferior vena cava through umbilical vein.
In fetal life the right-ventricle is not only pumping against
the systemic pressure but also performing greater volume
of work than left ventricle, because as mentioned earlier
approximately two third of cardiac output passes through
the right side of the heart and only one third through the
left side. The wide communication through atrial level
(Foramen Ovale) causes near equalization of both atrial and
ventricular end-diastolic pressures. The communication at
great vessel level (ductus arteriosus) allows equalization of
systolic pressure in the aorta, pulmonary artery and also at
the ventricular level in the absence of any aortic or pulmonary
valve stenosis.
CHANGES AT BIRTH
Within minutes after birth the gas exchange mechanism
has to be transferred from the placenta to the lungs
(transitional circulation). With the first breath the fetal
lung expands thereby increasing the calibre of existent
vessels and opening up collapsed vessels. Mechanical
expansion of lungs considerably reduces the resistance
across the pulmonary bed and increases pulmonary flow
proportionately. At the same time pulmonary vessels are
exposed to oxygen during inspiration, which acts as a strong
stimulant for vasodilatation and it greatly contributes for
reduction of pulmonary vascular resistance. Simultaneously
there occur significant changes in systemic vascular
resistance after clamping of umbilical cord and/or
constriction of umbilical artery. The low resistant placental
circulation is cut off from the systemic circulation, which
gives rise to sudden increase in systemic vascular resistance.
With rise in systemic vascular resistance, pressure in aorta
rises. As a consequence direction of flow in the ductus is
reversed, that is from aorta to pulmonary artery. Normally
blood flows from aorta to pulmonary artery for a short
period. The ductus narrows considerably within 12 hours
because of increased arterial blood oxygen tension and
changes in the prostaglandin milieu. It becomes functionally
closed by 72 hours. Later on cellular necrosis of endothelium
obliterates the lumen and fibrosis occurs which converts it
into ligamentum arteriosum. However in premature infants
this process may be delayed and it takes longer time for the
ductus to close. Therefore it may not be unusual to get a
patent ductus arteriosus in premature infants for few months
after birth. Presence of cyanotic congenital heart disease
may keep the ductus patent for a relatively longer
period. The exact cause of which is not known.
With the onset of respiration left atrium receives
pulmonary venous blood thereby left atrial pressure is
increased. Raised pressure inside the left atrium helps to
shut down the flap valve of foramen ovale against the edge
of the cristae dividans thereby the shunt at atrial level is
closed. Although functional closure occurs very early within
some hours, the anatomical closure takes around three
months or more. Some infants may have probe patent
foramen ovale which sometimes persists even up to adult
hood.
Note: Detachment of placenta also results in gradual closure
of ductus venosus. Thus removal of all bypass channels like
foramen ovale, ductus arteriosus and ductus venosus and
exclusion of placental circulation establishes the adult type
circulation which functions in series (Fig. 2.2A).
The major decline in pulmonary resistance from high
fetal level to low level occurs within 2 to 3 days but may be
prolonged from 7 days to 8 months. In the neonatal period
there occurs gradual remodelling of pulmonary artery and
its branches like thinning of vascular smooth muscles and
 Fetal and Neonatal Circulation 13

Figs 2.2A and B: (A) Normal adult circulation in series. (B) Fetal circulation showing circulatory pathways in parallel. Pulmonary
circulation exists parallel to circulation from RA to LA through foramen ovale and from PA to Ao through ductus arteriosus.
Similarly systemic circulation exists parallel to placental circulation. Two parallel circulation exist from placenta to RA, one
through liver and other through ductus venosus (RA—right atrium, RV—right ventricle, PA—pulmonary artery, LA—left atrium,
LV—left ventricle, Ao—aorta. Adult circulation indicates circulation after normal neonatal developments)

simultaneous genesis of new vessels which practically SALIENT FEATURES

remained in collapsed state in fetal life. The left ventricle
starts pumping blood against high resistance systemic
circulation, giving rise to left ventricular hypertrophy. The
right ventricle now ejects blood into low resistance
pulmonary circulation therefore no hypertrophy of right
ventricular muscle occurs.
The left ventricle which remained less functional in fetal
life and neonatal period now acts as a dominant ventricle.
In some cases there is persistence of fetal pulmonary
vascular architecture till adult life which is responsible for
consequent development of pulmonary arterial hypertension.
Many congenital malformations have effects on the
development of heart and circulation in utero and after birth.
Defects impending left ventricular filling such as mitral
stenosis/atresia or premature closure of foramen ovale may
cause under development of left ventricle and aorta with
interruption of aortic arch and coarctation of aorta. Whereas
lesions which reduce flow across right ventricular out flow
such as pulmonary stenosis increases flow across the aorta
either through a ventricular septal defect or through the
foramen ovale, thereby produces a well formed aortic
isthmus and very little chance of producing a coarctation
of aorta. Infants having congenital malformations like
pulmonary atresia with intact interventricular septum (PA-
IVS), aortic atresia and hypoplastic left heart syndrome
(HLHS) become critically ill after closure of ductus
arteriosus (duct dependent lesions). At times congenital
defects may keep fetal path ways patent as for example a
infra-diaphragmatic total anomalous pulmonary venous
communication may use the ductus venosus after birth for
pulmonary venous return.
Fetal circulation
1. During fetal life placenta functions as organ of
respiration. The gaseous exchange occurs by process
of diffusion through placental barrier. Umbilical vein
supplies oxygenated blood to the fetus and umbilical
arteries carry deoxygenated blood to placenta.
2. Fetal circulation occurs through shunts at different levels
like.
A. Foramen ovale: Through this interatrial shunt,
oxygenated blood selectively flows towards head
neck and brain that is why the upper limb is well
developed than lower limbs in new born.
B. Ductus arteriosus: Through this channel venous
blood of the fetus goes to placenta bypassing lungs
which remain in a collapsed state till birth. Here
blood flows from pulmonary artery to descending
aorta.
C. Ductus venosus: It helps to direct blood from IVC to
right atrium. It remains patent for few days after birth.
3. During fetal life parallel ventricular circulation and
combined ventricular output (not separate ones) exists.
4. When fetal heart rate decreases cardiac output is
decreased, that is why fetal bradycardia clinically
indicates fetal distress. But in neonatal circulation
cardiac output increases with increasing heart rate.
Neonatal circulation
Main changes are:
1. Oxygenation through lungs.
2. Pulmonary vascular resistance decreases and
pulmonary circulation occur through expanded lungs.
3. Systemic vascular resistance increases as there is no
placental circulation.
4. Circulation occurs in series not in parallel manner.
Separate ventricular output occurs (not combined)
5. Shunts at all the three levels which were essential to
sustain fetal life is no more required and closed. If exists
they are rather hazardous for normal neonatal
circulation.
 3 Bedside Diagnosis and Classification of
Congenital Heart Diseases
PART I
General and Physical Examination
The bedside diagnosis and thorough evaluation of the
Congenital Heart Diseases (CHD) in infants and children is
an absolute clinical necessity. In recent years there is
tremendous advancement in various interventional
procedures and cardiac surgery for complex CHD, but the
utility and success of these procedures mainly depend on
early and precise diagnosis. Hence, accurate bedside
diagnosis is no longer an academic curiosity, as in the past,
when there were hardly any treatment modalities available.
The neonatal period extends upto first month whereas
infancy is up to first year of life. When a clinician evaluates
a newborn or an infant in distress, it is very important to
exclude noncardiac causes having structurally normal heart,
which can produce cardiorespiratory distress. At the same
time, the physician should not be complacent if a newborn
is apparently normal, because some complex cyanotic heart
diseases remains asymptomatic even with no murmur for
a brief period.
For a reasonably good clinical diagnosis the physician
should pay careful attention to the traditional steps of
systematic examination and must know the normal
parameters and its variations according to the age group so
that the abnormal findings can be easily detected and
analyzed methodically.
Systematic Steps
a. Detail relevant history
b. Physical examination: Which includes general
examination, followed by detailed examination of
cardiovascular, respiratory system and abdomen in a
methodical manner
c. Electrocardiography (ECG)
IB Vijayalakshmi, M Satpathy
d. Chest X-ray (CT and MRI in selected cases)
e. Echocardiography
f. Invasive procedure like cardiac catheterization and
angiocardiography.
Radiography and electrocardiography are practically
included as a part of clinical examination. In the current
era, clinical examination is not complete unless echo-
cardiography is done. However, for the final diagnosis in
many cases of CHD besides the non-definitive investigatory
procedures like history, physical examinations, ECG and
X-ray chest, the definitive procedures, i.e. 2D echo-
cardiography, MRI and cardiac catheterization and
angiocardiography are necessary.
Note: Congenital anomalies at birth are not necessarily fixed
types of defects as anatomical and hemodynamic alterations
may occur from neonatal to adulthood. The clinical
manifestations mainly depend on the severity of the basic lesion
or on associated lesions.
With the advent of fetal echocardiography, CHD can
be detected even before the baby is born and necessary
steps can be taken for appropriate management at the
earliest.
History
Eliciting correct history or complaints from the parents or
reliable attendant during infancy is essential. But in our
country eliciting proper history from many parents really
pose a problem for the physician.
Feeding Difficulty
When the mother complains that the baby is not able to
take feeds properly (either breast feed or bottle feed),
becomes breathless and has excessive sweating during
 Bedside Diagnosis and Classification of Congenital Heart Diseases
feeding, the physician should think of congestive heart failure
(CHF) of any cause. If the parents complain that the baby
starts crying each time while taking feeds and if the feed is
stopped, feels comfortable, one should think of a rare
possibility of vascular ring malformation.
Repeated Respiratory Infection
History of repeated cold and cough requiring admission to
the hospital should be noted. If the infant is having repeated
attacks of breathlessness, rapid breathing, cough, grunting
sounds and restlessness (indicating repeated lower
respiratory tract infection) more than six times per year,
indicates high pulmonary flow due to significant left to right
shunt.
Other typical history pointing to particular diseases are:
• History of blue discoloration of lips, nails especially on
crying indicates the possibility of cyanotic heart disease
with decreased pulmonary blood flow and right to left
shunt. When the cyanotic infant lies calm and listless
having less physical activity it indicates cyanotic spell
or low output state.
• History of squatting after exertion in a cyanosed child
indicates TOF or TOF like physiology and tricuspid
atresia.
• History of frequent palpitations in a cyanotic child, one
should think of Ebstein anomaly.
• History of syncope on mild to moderate exertion in an
acyanotic child indicates severe AS, HOCM, severe
pulmonary hypertension or congenitally corrected
transposition of great arteries (cTGA) producing
significant bradycardia.
Family History
A detailed family history is sometimes rewarding. A child
with CHD in the family increases the chance of CHD in the
subsequent children to about ten fold. History of prolonged
use of any drug before or during pregnancy, history of
maternal infection or exposure to radiation during pregnancy
carries significance. Gestational age, condition at birth, age
of mother and order of pregnancy are to be ascertained.
Maternal Disease
Some maternal diseases predispose the child for certain
type of CHD.
15
• Diabetes—TGA, VSD
• SLE—complete heat block (CHB)
• Phenylketonuria—VSD, ASD, PDA
• Cigarette smoking—intrauterine growth retardation.
History of Drug Intake
Maternal drug intake (before and/or during early pregnancy)
also predispose the child for particular defects like:
• Alcohol (fetal alcohol syndrome)—VSD, TGA, PDA
• Sex hormone—TGA, TOF, VSD
• Trimethadione—TGA, TOF
• Amphetamine—VSD
• Phenytoin—PS, AS, CoA, PDA
• Lithium—Ebstein’s anomaly.
Maternal Infections during Pregnancy
Maternal infections associated with CHD are:
• Rubella—PDA, pulmonary artery branch stenosis,
congenital rubella syndrome
• Mumps—Endocardial fibroelastosis
• Coxsackie virus (in late pregnancy)—Myocarditis
• German measles—PDA and PS.
Physical Examination
The physician must have background knowledge of changed
fetal to neonatal physiology, he should watch the activities
of the neonate or the infant, whether normal, or irritable or
lie calm and listless. Careful inspection with overall
perception of the patient is very informative.
General Appearance
• Physical deformities like polydactyly, fingerised thumb
indicate commonly ASD or VSD
• Short neck or with low hairline indicates mainly Noonan
syndrome
• Mongoloid facies indicates Down’s syndrome. Elfin
facies indicates Williams syndrome. Child having moon
like facies indicates valvular PS.
Common Clinical Syndromes Associated with CHD
• Down syndrome (Trisomy 21)—complete AVSD, VSD,
ASD
• Turner’s syndrome (XO)—coarctation of aorta (CoA)
• XY male Turner—PS, AS
• Marfan syndrome—dissection of aorta, aortic aneurysm,
AR, MVP
 16 Clinical Diagnosis of Congenital Heart Disease
• Rubella syndrome—PDA, PS, pulmonary artery branch
stenosis
• Noonan syndrome—PS, ASD with PS
• DiGeorge syndrome—aortic arch anomaly, conotruncal
anomaly
• Holt-Oram syndrome—familial ASD
• Ellis Van creveld syndrome—single atrium
• Kartagener’s syndrome—dextrocardia
• Williams syndrome—supravalvular AS
• Laurence Moon Biedl syndrome—TOF.
Puffiness of face, pitting edema over dorsal side of hand
and feet indicate possibility of CHF in infants. Poor physical
development in the context of CHD is very important, it
indicates possibility of intrauterine infection or rubella
syndrome. Weight at birth carries clinical significance.
Sometimes infants with large birth weight have cardiac
problem like cardiomyopathy, cyanotic heart disease like
TGA or they are born to a diabetic mother. Infants with
low birth weight particularly premature infants (less than
1.5 kg of birth weight) have more chances of having
congenital heart diseases.
Color of the infant is to be ascertained, whether pale,
dusky or blue. If cyanosis is suspected at bedside, one
should look for central cyanosis at the conventional sites
(like palate, tongue, inner side of lip). Hematocrit (PCV
and Hb %), oxygen inhalation test (Hyperoxia test) and
arterial blood for oxygen saturation are advised. Presence
of minimal cyanosis in newborn causes confusion to
physicians, if not corrected by O2 inhalation, measurement
of PaO2 is necessary in these cases.
Respiration
Respiratory distress in newborns and infants is diagnosed
by tachypnea, altered depth of breathing, intercostal
retraction, flaring of alae nasi, grunting, stridor and apnoeic
spells. Apnoeic spells are more common if CNS is involved.
Respiratory rate is high in newborns. The rate gradually
decreases as age advances.
Age Respiratory rate (per minute)
Newborn 40-60
Infants up to 30
1-4 years 24-26
Adolescents 18-20
Arterial Pulse
The peripheral pulses like radial, brachial, carotid, femoral,
posterior tibial and dorsalis-pedis are easily felt in newborns.
Pulse rate varies approximately from 90 to 160 per minute
(average pulse rate is 125 per minute in newborn, 120 for
infants, 100 for up to 4 to 10 years and 90 for 10 years and
above).
The definition of tachycardia and bradycardia is different
in pediatric age groups, which are as follows (beats per
minute).
Tachycardia Bradycardia
1. Newborn > 160 < 100
2. Infant > 120 < 90
3. Toddler and Children > 100 < 60
Relatively slow pulse and irregular pulse are common
in premature infants. During antenatal checkup, fetal cardiac
arrhythmias can be detected and if necessary it is treated.
Low volume pulses in both upper and lower limbs indicate
low cardiac output state (hypoplastic left heart syndrome,
or presence of LVF). Very low volume, absent or delayed
lower limb pulse compared to upper limb (brachial) pulse
indicates CoA or Interrupted aortic arch with a closing
ductus. Discrepancy in both radial pulses indicate supra
valvular aortic stenosis, aortic isthmus stenosis or pre ductal
coarctation of aorta. Right arm pulse is usually better felt
than left arm, because blood pressure is slightly higher in
right arm (within 10 mm of Hg). Bounding pulse in infants
indicate aortic runoff mainly due to PDA, AR or truncal
regurgitation.
Blood Pressure
It is often difficult to measure exact blood pressure (BP) in
the upper and lower limbs in newborns and infants, moreover
when the neonate is a premature one. Blood pressure is
taken by different methods at different ages. In infants BP
is measured by (i) Flush method, (ii) Doppler ultrasound
method, (iii) Oscillometric (Dinamap) method. Conventional
methods like Palpatory and Auscultatory methods are used
for children and adults. Cuff of the sphygmomanometer
should be of appropriate size according to the arm
circumference. The normal range of BP according to the
age group is given below.
 Bedside Diagnosis and Classification of Congenital Heart Diseases 17

Normal Blood Pressure (in mm of Hg) Physiological Parameters of Clinical

Importance
Systolic Diastolic

1. Neonates 60-70 20-60

Physiological parameters are described in Figures 3.1 to 3.3
2. Infants 87-105 53-65 and in Tables 3.1 and 3.2.
3. Toddler 95-105 53-66
4. Children 97-112 57-71
5. Adolescents 112-128 66-80

Jugular Venous Pressure (JVP)

JVP is difficult to interpret in newborns and infants (due to
short neck and tachycardia). Unlike children and adults, it
is seen in upright position (not 45° position). If the upper
limb veins are visible or become more prominent by raised
position of the hand from cardiac level, it is presumed that
mean venous pressure is increased. Normal wave pattern
is depicted in Figure 3.3 and it is seen just above the clavicle.
In cases of younger children and adolescents JVP is easily
studied. JVP is raised when the mean RA pressure increases
indicating right-sided heart failure. Prominent ‘a’ wave
indicates a forceful atrial contraction present in case of
tricuspid atresia (TA), pulmonary stenosis (PS) with intact
ventricular septum and Eisenmenger’s syndrome due to
ASD or PDA. In Lutembacher syndrome left atrial ‘a’ wave
is reflected in JVP. Prominent ‘a’ wave is distinctly
uncommon or absent in VSD and TOF. ‘V’ wave, which Fig. 3.1: Schematic diagram showing normal oxygen saturation
is due to atrial filling during systole, becomes prominent in at different levels, oxygen saturation in right side (RA, RV and
PA) is approximately 75% and in left side (LA, LV and Aorta) is
tricuspid regurgitation (TR) of any cause. Presence of
97% (PV—pulmonary vein, RPA—right pulmonary artery,
prominent ’y’ descent indicates rapid early diastolic filling
LPA—left pulmonary artery, SVC—superior vena cava, IVC—
of RV as in ASD, PS with TR and TGA with CHF and TR. inferior vena cava)

TABLE 3.1: Normal pressures and oxygen saturation at different sites

O2 saturation Pressure O2 saturation Pressure

in mm of Hg in mm of Hg

SVC 70% — PV 99% —

IVC 75% — LA 97% A 3-10
RA 75% a 3-10 V 3-12
v 3-10 Mean 3-10
Mean 2-7 LV 97% Systole 100-140
RV 75% Systole 15-30 ED 3-12
ED 4-12 Aorta 97% Systole 100-140
PA 75% Systole 15-30 Dias 60-90
Dias 4-12
Mean 9-18
ED—end-diastolic, Dias—diastolic, SVC—superior vena cava, IVC—inferior vena cava, RA—right atrium, LA—left atrium, RV—right
ventricle, LV—left ventricle, PA—pulmonary artery, PV—pulmonary vein
 18 Clinical Diagnosis of Congenital Heart Disease

Fig. 3.2: Normal pressure tracing at different sites as determined during cardiac catheterization (RA—right atrium,
LV—left ventricle, RV—right ventricle, PA—pulmonary artery). Figures show pressure in mm of Hg

TABLE 3.2: Normal systemic and pulmonary vascular resistance

Systemic vascular resistance (SVR)—700-1600 dynes/second/cm (20 Wood’s unit)

Pulmonary vascular resistance (PVR)—20-120 dynes/second/cm (2 Wood’s unit)

Examination of Cardiovascular System

Fig. 3.3: Simultaneous recording of jugular venous pulse
(JVP), carotid pulse, and ECG. A wave of JVP coincides with
1st heart sound (M1),V wave coincides with 2nd heart sound
(A2), X descent is in systole, Y in diastole corresponds to S3, in
carotid pulse tracing A—anacrotic notch, P—percussion wave,
T—tidal wave, DN—dicrotic notch, D—dicrotic wave.
Inspection of the precordium gives important clue to the
type of defect present. Pulsatile precordium with pulsatile
neck vessels indicate regurgitant lesions mainly AR. Silent
precordium with pulsatile neck veins in a cyanotic child
one may think of tricuspid atresia. Pulsatile precordium as
such indicates volume overload (shunt and regurgitant
lesions) lesions like AR, MR, VSD, ASD and PDA. Silent
precordium with well-localized visible apex indicate pressure
overload due to stenotic lesions.
Localization of cardiac apex by palpation in newborn
and infants is very difficult but it is important. It requires
patience and gradual experience to ascertain the type of
apical impulse. If the impulse is maximal at the lower left
sternal border and is diffuse it is of RV type. If it is over the
apex and more localized it is LV type. Normally the apex
beat in infants is felt over fourth intercostal space in mid-
clavicular line. Sometimes in newborns the apical impulse
is felt just above it (over third left intercostal space),
otherwise, it is felt normally over fifth intercostal space
just inside the mid-clavicular line in children and adults.
Remember, it is the second heart sound (S2) audible
over pulmonary area is of cardinal importance in cases of
 Bedside Diagnosis and Classification of Congenital Heart Diseases
neonates and infants. S2 is the key sound, which gives the
clue to diagnose even in clinically unsuspected cases, when
alteration in intensity and its behavior is marked during
cardiac auscultation.
S2 has two components, A2 component (early aortic
valve closure sound) and P2 (delayed pulmonary valve
closure sound). Normally A2 in children is louder and well
heard over all areas including pulmonary area. P2 is well
audible mainly over pulmonary area and less loud than A2.
But during early infancy P2 is prominent over whole of
precordium.
Note: In children and adult if P2 is well heard over lower sternal
border or over apical area, it is considered very loud.
Intensity of P2 depends on pulmonary arterial size and/
or pulmonary artery pressure. Intensity of A2 depends on
the position of the aorta relative to chest wall and on aortic
pressure. In infants splitting of S2 is difficult to appreciate
particularly when tachycardia and tachypnea are associated.
Splitting of S2 may be normal, wide and variable, wide and
fixed, single or paradoxically split.
Normal Splitting
Normally during inspiration splitting is appreciated but not
during expiration. During inspiration, there is negative
intrathoracic pressure that increases the capacitance of
pulmonary vasculature; at the same time more blood comes
to the right side, which prolongs right ventricular systole.
Hence, closure of pulmonary valve is delayed and splitting
of S2 is well appreciated.
Wide and Variable Splitting
It occurs due to delayed P2 in conditions like PS, PAPVC,
RBBB and WPW type A or due to early closure of A2 as in
MR and VSD that can cause wide and variable split.
Wide and Fixed Splitting
It occurs when the pulmonary artery is dilated to its maximal
capacitance and reciprocal changes of blood flow in both
sides of heart does not occur as in ASD, TAPVC. In other
words the split is wide and fixed because RV gets equal
amount of blood in both phases of respiration.
Single S2
It means either A 2 or P 2 is absent or both become
synchronous. Absent P2 indicates TOF, pulmonary atresia,
19
severe PS and TGA with PS. Absent A2 indicates aortic
atresia, severe AS. Synchronous S2 indicates Eisenmenger’s
syndrome (VSD and Single Ventricle), severe PAH and some
cases of truncus arteriosus (single truncal valve closure).
Paradoxical Splitting
Clinically when both components are audible during
expiration and become single in inspiration, it is called
paradoxical splitting. It is mainly due to prolonged LV systole
delaying A 2. Clinical conditions are AS, AR, PDA,
hypertension, LBBB and WPW type B.
S2 (intensity and duration of splitting) helps in diagnosis
of hemodynamic subsets of certain shunt lesions mainly
VSD, ASD and PDA.
Next important sound is the systolic click. Its presence
in an infant indicates either large aorta (as in pulmonary
atresia), a large pulmonary artery (as in hypoplastic left
heart syndrome) or a large single vessel (truncus arteriosus).
Aortic ejection click is constant where as pulmonary ejection
click is more prominent during expiration, but in pulmonary
arterial hypertension the pulmonary ejection click becomes
constant. In a setting of ASD secundum if an ejection click
is audible one should think of associated PS or PAH.
S3 occurs due to clinical conditions with rapid ventricular
filling and also due to congestive heart failure. It is known
as ventricular gallop. Normally S3 may be audible in children
and adolescence. S3 is present in left to right shunts like
ASD, VSD, PDA and regurgitant lesion like MR.
Note: S3 is never audible in classical TOF and rarely in TOF
like physiology but it is present commonly in other cyanotic
heart diseases with high pulmonary flow like TAPVC, TGA
without PS, single ventricle without PS, DORV without PS and
truncus arteriosus.
Murmur
The presence, localization, timing, intensity, transmission,
quality and respiratory variations of murmurs are to be
determined with much care. Remember serious complex
heart diseases (TGA or HLHS) may exist without significant
murmur and conversely a loud murmur may indicate a
benign entity like small VSD, mild PS, mild AS and small
PDA. The clinical paradox is the murmur of left to right
shunts like VSD or PDA may not be audible at birth
(newborn period) because of equal pressure on both
 20 Clinical Diagnosis of Congenital Heart Disease
circulations but later on it becomes prominent. If murmurs
are audible at birth one should think of stenotic or regurgitant
lesions.
Innocent murmurs Newborns and infants frequently have
heart murmurs (innocent murmurs), which almost disappear
by the end of fourth week. Innocent murmurs are produced
without definite organic lesions. Usually four types of
innocent murmurs are audible.
1. Pulmonary flow murmur
2. Transient systolic murmur due to a closing PDA
3. Transient systolic TR murmur
4. Vibratory systolic murmur of unknown cause.
Note: A good number of children belonging to age group 2-7
years have ejection systolic murmur (not hemodynamically
significant) over left sternal border, which disappears in later
age. These murmurs are Stills murmur, carotid bruit and apical
murmur. The most common innocent murmur is Stills murmur
audible over left mid and lower sternal border. Organic
murmurs usually persist, but the murmurs of VSD and PDA
often disappear in later age due to closure of the defects.
Murmurs of AS, PS and CoA do not disappear even the lesion
is mild one.
Innocent murmur is commonly ejection systolic type,
where as continuous, pansystolic or diastolic murmurs are
rarely innocent. When innocent murmurs are continuous,
they are cervical venous hum or cephalic continuous
murmur. The physician should reassure the parents/patients
about the harmlessness of this innocent murmur to alley
their anxiety.
Systolic murmurs are commonly four types:
1. Early systolic
2. Mid systolic or ejection systolic
3. Late systolic
4. Pansystolic (holosystolic) murmurs (PSM).
Ejection systolic murmurs (ESM) are generated at the
outflow tracts of ventricles due to stenosis or due to high
flow. The intensity of systolic murmur is graded from 1 to
6. A murmur of grade 3 or more is accompanied by a thrill.
Particularly in young children early systolic murmur (starts
with S1 but does not extend up to S2) is due to a closing
VSD or a small muscular VSD that closes in later part of
systole due to muscular contraction. Late systolic murmur
commonly audible in young adults due to MVP, causing
MR in later part of systole. Pansystolic murmur (PSM) or
holosystolic murmurs are due to AV valve regurgitation or
due to VSD. ESM is commonly rough in quality where as
PSM is a soft murmur.
Diastolic murmurs are commonly early diastolic or mid
diastolic. Early diastolic murmur (EDM) is commonly due
to AR and PR (starts with S2 and decrescendo in shape).
Mid diastolic murmur (MDM) start after S2 and end with
S1. MDM are generated in AV valves either due to stenosis
or due to increased flow. Diastolic murmurs are generally
not graded. For information, some physicians grade diastolic
murmurs into four grades that have not much clinical
importance. MDM is commonly rough in quality where as
EDM is a soft murmur.
Continuous murmurs are often present in various
congenital anomalies. When the systolic murmur overlaps
and spills over the S2 (continues into diastole) it is termed
as continuous murmur. This continuous murmur is audible
both in systole and diastole without change in character.
To and fro murmur is a combination of systolic and diastolic
murmurs (does not overlap S2), not a continuous murmur
although it is heard in both phases of cardiac cycle, as for
example AS with AR, VSD with AR and TOF with absent
pulmonary valve.
The following common clinical conditions have
continuous murmur.
A. Acyanotic lesions: It is divided into two groups, (I)
Cardiac causes and (ii) Extra cardiac causes. The cardiac
causes are:
1. Coronary A-V fistula
2. RSOV into right heart
3. Anomalous left coronary artery arising from
pulmonary artery (ALCAPA)
4. Cortriatriatum
5. ASD (small) with congenital MS or mitral atresia
The extra cardiac causes are PDA, AP window,
systemic AV fistula, pulmonary artery branch
stenosis, subclavian or carotid obstruction.
B. Cyanotic lesions: They are:
1. TAPVC (due to compression of vertical vein between
engorged left pulmonary artery and left bronchus
known as hemodynamic vice)
2. TOF with collaterals
 Bedside Diagnosis and Classification of Congenital Heart Diseases 21

3. Pulmonary A-V fistula

4. Pulmonary atresia with VSD with collaterals and
5. Truncus arteriosus.
C. Causes of superficial continuous murmur
1. Coronary AV fistula
2. Rupture of sinus of valsalva aneurysm
3. Pulmonary AV fistula
4. Noncardiac causes—venous hum and arteriovenous
fistula.

Respiratory System Examination

Apart from rate of respiration (described earlier) it is
important to auscultate both lung fields. Bilateral crepitation
is an important sign of left heart failure. Unlike adults where
crepitation is commonly basal, in neonates and infants it is
diffusely heard and more often associated with rhonchi.
Abdominal Examination
Normally liver is palpable (2-3 cm below costal margin) at
mid clavicular line upto 4-5 years of the age, after that it
remains palpable 1 cm till late childhood. If liver is palpable
further downwards it is enlarged. Infants with enlarged
liver, if irritable and dyspneic it indicates presence of CHF.
If the liver is in midline and symmetrically palpable, it
indicates cardiac malpositions and underlying complex heart
disease. On percussion tympanic resonance due to gastric
air on left side and liver dullness on right side indicate situs
solitus. Spleen is not normally palpable. If spleen is palpable
in a patient having a cardiac murmur with unexplained fever
it indicates possibility of infective endocarditis. Examination
of other systems should be done routinely, particularly when
congenital heart disease is present, because it may be
associated with hereditary syndromes or with neuro-skeletal
abnormalities.
PART II
Clinical Presentation
The common modes of presentations of congenital heart
disease are:
1. Symptomatic or asymptomatic murmurs
2. Cyanosis
3. CHF or pulmonary edema
4. Recurrent respiratory infection
5. Abnormal pulse
6. Features of shock or low output state.
Fig. 3.4: Schematic diagram showing common types of
presentations of major CHD, either with predominant CHF or
predominant cyanosis, there is a group, which has both
cyanosis and CHF
Among these cyanosis and congestive heart failure
(CHF) are two major forms of presentation (Fig. 3.4). CHF
generally indicates high pulmonary flow due to large left to
right shunts at different levels like large VSD and large
PDA associated with low pulmonary vascular resistance.
Cyanosis is generally due to low pulmonary flow due to
right to left shunts at different levels often associated with
RVOT obstruction. In another group of patients both
cyanosis and CHF coexist. In this group CHF is due to
large pulmonary flow and at the same time cyanosis is due
to systemic desaturation, commonly seen in TAPVC,
truncus arteriosus, single ventricle without PS, DORV
without PS and complete TGA. Those who have CHF due
to large pulmonary flow may later on develop cyanosis due
to pulmonary hypertension with reversal shunt leading to
clinical condition of Eisenmenger’s syndrome. Similarly
predominant cyanotic lesions when remain uncorrected later
on develop CHF due to chronic right ventricular failure.
Cyanosis
Normal value of arterial partial pressure of oxygen is 60 to
70 mm of Hg. Minimal cyanosis is seen when it is 35 to 40
mm of Hg. Normal oxygen saturation (SaO2) is 97 to 100
percent. Clinically cyanosis appears when the saturation is
below 85 percent, but it becomes clearly visible when it is
less than 75 percent. Central cyanosis appears due to low
oxygen saturation in newborn with 4 gm/L (4 gm %) or
more of reduced hemoglobin in arterial blood. If the newborn
is anemic (Hb less than 8 gm %) cyanosis is not visible
 22 Clinical Diagnosis of Congenital Heart Disease
even at 63 percent of oxygen saturation. If there is
polycythemia (Hb more than 24 gm %) the oxygen
saturation may be high upto 88 percent in presence of
cyanosis. Newborn has high hematocrit of about 17 gm
percent, which drops down to approximately 11.5 gm
percent by second month of life. This value is continued
upto 10 years of age.
It is important to distinguish cyanosis due to noncardiac
causes when the newborn or infant is having respiratory
distress. The common noncardiac causes are
• Respiratory
— Hyaline membrane disease
— Meconium aspiration syndrome
— Bronchopulmonary dysplasia and obstruction
• Hematological—Methemoglobinemia, Hyperviscosity
syndrome
• Metabolic—Hypoglycemia
• Other important causes—Persistent fetal circulation
syndrome, Intracranial hemorrhage.
Note: The infants having cyanosis due to respiratory causes
are more tachypneic and having more severe respiratory
distress than patients with cyanotic heart disease. If there is
no increase in oxygen saturation with oxygen inhalation (100%
oxygen for 10 minutes) the infant may be suffering from
congenital cyanotic heart disease not pulmonary disease
(Hyperoxia test). PaO2 (on 100% FiO2)< 150 mm Hg in right
radial artery indicates significant central cyanosis. Chest
radiograph also helps in differentiating these two conditions.
Cardiac Causes of Cyanosis
I. According to age
a. Newborn (1st week)—TGA, hypoplastic right heart
syndrome (tricuspid atresia, pulmonary atresia with
intact ventricular septum), Ebstein’s anomaly,
TAPVC
b. Late newborn (upto 4 weeks)—TOF, severe PS
with PFO or ASD, TGA with VSD and PS, single
ventricle with PS, truncus with hypoplastic pulmo-
nary artery and asplenia syndrome.
c. Infants and toddlers—The common causes as per
common teaching are two-As and five-Ts: Two-
A’s are Atresia of aorta (aortic atresia) and Atresia
of pulmonary artery (pulmonary atresia) and five-
T’s are: Tetralogy of Fallot, TAPVC, TGA, Tricuspid
atresia, Truncus arteriosus.
II. According to the type of murmur
a. Cyanosis with ejection systolic murmur—TOF, severe
PS with reversed atrial shunt, TGA, Truncus
arteriosus.
b. Cyanosis with pansystolic murmur—Tricuspid atresia,
Ebstein’s anomaly, severe PS with ASD and TR,
Eisenmenger’s ASD with TR, DORV, Single
ventricle.
c. Cyanosis with diastolic murmur—Basal early diastolic
murmur present in infancy in Truncus arteriosus,
at later age in Eisenmenger’s syndrome (Graham
Steel’s murmur) and in TOF with absent pulmonary
valve.
d. Cyanosis with continuous murmur—TAPVC,
Pulmonary A-V fistula, Pulmonary atresia with VSD
and major aorto pulmonary collaterals.
Differential Cyanosis
Differential cyanosis is said to be present when cyanosis
appears in toes (lower limb) but fingers (upper limb) are
normal. It is seen in PDA with PAH and reversal of shunt
and severe CoA.
Reversed differential cyanosis: Upper limbs are more deeply
cyanosed than lower limbs. It occurs in TGA + PDA and
PAH with reversal of shunt at PDA level. In severe AS,
interruption of aortic arch and coarctation of aorta when
ductus remain patent and descending aortic flow is relatively
better than upper limb flow; upper limbs remain more
cyanosed compared to lower limbs.
Note: It is PAH with reverse shunt and PDA both factors play
important role for differential cyanosis.
Cyanosis with Duct Dependent Lesions
It is important to remember for practical management that
once cyanosis is diagnosed in a neonate it is mandatory to
know whether the cardiac lesion is duct dependant or not.
These patients need immediate medical attention preferably
in a referral cardiac center (prostaglandin E1 infusion should
be started to keep the ductus patent and ventilatory supports
to keep in readiness before surgery is considered). In some
cases immediate atrial septostomy is considered to allow
mixing of saturated and unsaturated blood.
 Bedside Diagnosis and Classification of Congenital Heart Diseases
Duct Dependent Lesions
1. Pulmonary atresia with intact ventricular septum
2. TGA with intact septum
3. Interrupted aortic arch
4. Hypoplastic left heart syndrome
5. Severe coarctation of aorta
6. Critical aortic stenosis
7. Severe TOF
8. Critical PS.
Cyanotic Spells
Tachypnea, tachycardia and deepening cyanosis during
feeding or crying indicate that the infant is going for
cyanotic or hypoxic spell. It should immediately be treated.
Repeated cyanotic spells are ominous signs, unless treated
it may culminate in syncope, convulsion or even death.
Right ventricular infundibular spasm reducing pulmonary
flow, leading to hypoxia and hypercapnea (↑ PCO2) is the
main culprit to induce cyanotic spells/hypoxic spells.
Clubbing as a consequence and part of cyanotic heart
disease appears late (minimum 3 to 4 months after cyanosis)
around one year of age or beyond that age. It is usually
uniform involving fingers and toes but in differential
cyanosis toes show clubbing but fingers do not.
Congestive Heart Failure (CHF)
Early recognition of CHF is important particularly in infants
because prompt institution of appropriate therapy is
necessary for survival. It is clinically observed that CHF
occurs during infancy in most of the cases otherwise it
occurs at late part of childhood or thereafter. The diagnosis
of CHF in newborn or in infants is often missed because it
is mainly based on symptoms and subtle signs.
Signs of CHF in Neonates and Infants
It is commonly observed that CHF occurs mostly within
the first year of life (mainly within six months). Common
clinical features are:
1. Feeding difficulties like inability to complete feeds within
15 to 20 min, tachypnea and perspiration during feeds,
low volume intake of feeds with frequent demand.
2. Tachypnea (> 45/min) often with respiratory grunting,
flaring of alae nasi.
23
3. Intercostal and subcostal recession/retraction.
4. Persistent tachycardia (>120/min).
5. Hepatomegaly (> 3 cm).
6. Puffiness of face, edema over dorsal side of the forearm,
back and legs, weight gain of > 100 gm /day (in the
first few days after birth).
7. Cardiac enlargement clinically or on X-ray (CT ratio >
60%), and rales over lung fields on auscultation is the
main sign. After infancy CHF is uncommon as
compensatory mechanism comes into play. It is difficult
to differentiate right or left heart failure separately in
infants, but it becomes easier in childhood and in later
age.
Signs of CHF in Older Children
Signs and symptoms of CHF more closely resemble that of
an adult. Dyspnea on effort, orthopnea, paroxysmal
nocturnal dyspnea, distended neck veins, raised JVP, edema
(usually dependant), and bilateral crepetations over base of
the lungs are the main signs. Left ventricular S3 is often
present in children without heart disease, therefore presence
of S3 is not of much help in diagnosis of CHF in children.
Causes of Congestive Heart Failure (CHF)
According to Age
First day of life Hypoplastic left heart syndrome (HLHS),
endocardial fibroelastosis, large arteriovenous fistula,
arrhythmias like paroxysmal atrial tachycardia, congenital
severe tricuspid or pulmonary regurgitation (volume
overload of RV), massive placental transfusion, asphyxia
neonatorum and premature infant having large PDA.
First week of life HLHS, complete transposition of great
vessels (TGA), Coarctation of aorta (CoA), severe AS.
During infancy Coarctation of aorta with PDA or VSD,
large VSD, large PDA, AV Canal defect, TAPVC, tricuspid
atresia, single ventricle, persistent truncus, DORV, TGA
with large VSD, ALCAPA, cardiac malposition with
associated complex lesions, arrhythmia like paroxysmal atrial
tachycardia, complete heart block (CHB) and myocarditis.
Noncardiac causes that may produce congestive heart
failure in infants are severe anemia, over transfusion,
hypoglycemia and neonatal sepsis.
 24 Clinical Diagnosis of Congenital Heart Disease
Common Causes of CHF in Children and Adults
Right heart failure—PS, ASD, TAPVC, aortic atresia,
Ebstein’s anomaly, persistent fetal circulation.
Left heart failure—AS, CoA, PDA, tricuspid atresia,
endocardial fibroelastosis, LV inflow obstruction, mitral
regurgitation.
Both heart failure—Large VSD, AP window, TGA with
large VSD, AV canal defects, myocarditis.
Congenital Heart Disease with
CHF and no Murmur
• Cyanotic—d-TGA (with intact septum), TAPVC
(obstructive type/infracardiac type)
• Acyanotic—Endocardial fibroelastosis, critical AS,
coarctation of aorta in infants, systemic AV fistula and
anomalous origin of left coronary artery from pulmonary
artery.
For academic interest the other causes are myocarditis
(viral), glycogen storage disease, Kawasaki disease,
pericardial effusion, supraventricular tachycardia, cardiac
tumors, primary muscles disease and certain respiratory
diseases.
PART III
Bedside Approach for Diagnosis
and Classification
Correct interpretation of history and clinical findings, like
palpation of peripheral pulses, precordial impulse, presence
or absence of thrill over precordium, identifying heart
sounds particularly second heart sound (normal, diminished,
loud, single, nature of split), loudness and character of
murmur (ESM, PSM, continuous or diastolic) will give the
clinical diagnosis with fair accuracy. When the ECG and
X-ray findings are correctly interpreted, the physician may
be correct upto 85-90 percent of cases. In many cases
diagnosis is derived in a mathematical fashion. For example:
a. Infant with cyanosis, congestive heart failure and right
axis deviation, if second heart sound is single it suggests
TGA but with these findings, if second heart sound is
widely split it suggests TAPVC.
b. Similarly infants with cyanosis, CHF, long systolic
murmur and left axis deviation if second heart sound is
single the diagnosis is Tricuspid atresia. Whereas with
similar clinical findings if second heart sound is widely
split it suggest DORV.
c. Acyanotic child with wide split S2 and ESM over upper
left sternal boarder with incomplete RBBB if QRS axis
is rightward the diagnosis is ASD secundum but if axis
is leftward it is ASD primum. Similarly with clinical
finding of large ASD secundum if a systolic thrill is
present over left upper sternal border the diagnosis is in
favor of Lutembacher’s syndrome.
Five basic questions to be answered when the physician
is approaching a patient with suspected congenital heart
disease.
1. Is the patient acyanotic or cyanotic? (To be ascertained
clinically and by hematocrits)
2. Is pulmonary blood flow increased or not? (To be
ascertained from history and X-ray Chest)
3. Which is the Dominant ventricle? (Ascertained from
clinical examination and ECG)
4. Does the malformation originate in the left or right heart?
(Ascertained from X-ray and ECG)
5. Is pulmonary hypertension present or not? (Ascertained
from clinical examination, ECG and X-ray chest).
Other criteria to diagnose whether congenital heart
disease is present in a patient or not is by:
Nadas Criteria
Major criteria Minor criteria
Systolic murmur of grade 3-4/6 Systolic murmur grade 2/6
Diastolic murmur Abnormal second heart sound
Congestive heart failure Abnormal X-ray chest
Cyanosis ECG abnormalities
Abnormal BP.
Presence of one major and two minor are essential for
diagnosis of CHD.
Note: Examination of peripheral pulse is also an important
criterion and should not be missed or overlooked, particularly
in neonates and infants. Once cyanosis due to cardiac cause
is detected in a neonate, it is mandatory to know whether the
lesion is duct dependant or not. If dependent, an immediate
step (prostaglandin E1 infusion) for management is advised.
 Bedside Diagnosis and Classification of Congenital Heart Diseases 25

TABLE 3.3: Characteristics points of the three types of lesions

Left to right shunts Right to left shunts No shunt lesions (obstruction to blood
(Increased pulmonary flow) flow at different levels)

• Acyanotic • Cyanosis (may be associated clubbing) • No Cyanosis

• Frequent chest infection
• Pulsatile precordium precordial prominence
may be present
• Cardiomegaly
• Shunt murmurs and flow murmurs
• Increased pulmonary vascularity
(plethoric lungs fields)
• CHF commonly during infancy
• Usually no history of recurrent chest • No recurrent chest infection
infection
• No precordial activity (silent precordium) • Silent precordium but forceful
RV/LV impulse
• No cardiomegaly • No cardiomegaly
• No shunt murmurs • Harsh ejection systolic murmurs (may
be with thrill)
• Decreased pulmonary vascularity • Normal pulmonary vascularity
(Oligemic lung fields)
• CHF occurs in late phase • CHF occurs in very late phase.
Rarely it occurs early in sever stenotic
lesions

Basically all congenital heart diseases are classified into
three groups:
1. Left to right shunt lesions
2. Right to left shunt lesions
3. No shunt lesions.
The above Table 3.3 mentions the clinical points to which
group the patient belongs.
When the shunt flow depends on pulmonary vascular
resistance, it is known as ‘dependent shunt’ where as
when it depends on pressure difference between two
circulations it is known as ‘obligatory shunt’.
Classification of Congenital Heart Diseases
There are different types of classifications or approaches
to diagnose congenital heart disease at bedside. They are:
1. Clinical classification: It is a complete and popularly
accepted one.
2. Physiological classification: It is according to pulmo-
nary flow pattern.
3. Classification as per ventricular dominance from ECG.
It is mainly confined to cyanotic group of diseases.
4. Classification as per evidence of pulmonary hyper-
tension.
5. Anatomical classification: A long list of CHD related
anatomically to heart and great vessels are included in
this classification. It is more of theoretical interest than
having clinical importance.
Among these the clinical classification is commonly
followed in practice.
Clinical Classification
Presence of cyanosis and detection of dominance of either
ventricle and type of shunt (pulmonary flow pattern) from
clinical examination form the basis of this classification.
Acyanotic Heart Lesions
1. Shunt lesions (increased pulmonary flow)
a. RV dominance: ASD (Secundum / venosus type),
ASD with mitral stenosis (Lutembacher), Coronary
A-V fistula and PAPVC, partial AV canal defects
(ASD primum).
b. LV or combined ventricular dominance (combined
ventricular hypertrophy): VSD, PDA, complete AV
canal defect, coronary arteriovenous fistula, VSD
with left ventricle to RA shunt, VSD with AR, AP
window and RSOV to RA/RV, ALCAPA.
2. No shunt lesions
a. Obstructive: Pulmonary stenosis, aortic stenosis,
coarctation of aorta, cor triatriatum, peripheral
pulmonary stenosis, congenital MS, pulmonary
venous stenosis.
 26 Clinical Diagnosis of Congenital Heart Disease
b. Non-obstructive: Aortic regurgitation, pulmonary
regurgitation, idiopathic dilatation of pulmonary
artery, mitral regurgitation.
3. General:
cTGA, Endocardial-fibroelastosis, Complete heart block
and Arrhythmias.
Cyanotic
1. Decreased pulmonary blood flow (Salient clinical
findings are normal cardiac size, single S2, no S3, ESM
2-3/6 and oligemic lung fields without thymic shadow)
a. RV dominance: Tetralogy of Fallot, DORV with PS,
TGA with VSD and PS, severe PS with ASD/PFO.
b. LV dominance: Tricuspid atresia, Pulmonary atresia
with intact septum, Hypoplastic right ventricle,
Ebstein’s anomaly and Single ventricle with PS.
c. Combined ventricular dominance: Persistent truncus
with Hypoplastic pulmonary artery (Type II or III),
TGA +PS and Single ventricle with mild PS.
2. Increased pulmonary blood flow Salient clinical findings
are infant symptomatic, cardiomegaly, CHF, S2 single,
S3 present, short ESM and plethoric lung fields without
thymic shadow.
a. RV dominance: TGA, TAPVC, HLHS, DORV with
subpulmonic VSD (Taussig-Bing), TOF with
collaterals, Pulmonary atresia with VSD and large
aorto-pulmonary-collaterals, common atrium.
b. LV or Combined ventricular dominance: TGA with
VSD, Tricuspid atresia with Large VSD, Truncus
arteriosus, Complete interrupted aortic arch with
PDA and VSD. Single ventricle without PS and low
PVR.
3. Decreased pulmonary flow with pulmonary hypertension
(PAH) Eisenmenger syndrome (right to left shunt at
VSD, ASD, PDA), DORV with PAH, TGA with PAH,
TAPVC with PAH.
4. Decreased pulmonary flow with PAH due to pulmonary
venous hypertension HLHS and TAPVC with pulmonary
venous obstruction.
5. Normal pulmonary flow Pulmonary arteriovenous fistula
and Congenital vena cava to LA communication.
Common Congenital Heart
Diseases According to Age Group
The cardiac lesions mentioned below are commonly seen
in clinical practice, they are:
In Infancy
1. Firstweek—mainly with cyanosis-TGA with intact IVS,
PA-IVS and severe Ebstein. Mainly with shock
(hypoperfusion)—HLHS, critical AS and interrupted
aortic arch
2. Upto fourth week—mainly with CHF or pulmonary
edema—AVSD, large VSD, ALCAPA, TAPVC, TGA
without PS.
3. Upto 1 year—mainly with prominent murmur—small
VSD, ASD, PDA, PS and AS.
Children and Adults
1. Acyanotic—ASD, VSD, PDA, PS, AS, CoA.
2. Cyanotic—Adult TOF, Eisenmenger’s syndrome,
TAPVC, Ebstein’s anomaly, PA-VSD and rarely TGA.
In spite of all limitations, physician’s background know-
ledge, experience and proper interpretation of clinical, ECG
and X-ray findings give fairly accurate diagnosis of conge-
nital heart diseases for early management. To confirm the
diagnosis non-invasive investigation like 2D echo with
Doppler examination is necessary besides invasive studies
like catheterization and angiocardiography before any
nonsurgical or surgical intervention. The typical findings
of these definitive procedures are described in their
respective chapters.
 5 Radiological Diagnosis of
Congenital Heart Diseases
Radiography is a widely available, relatively inexpensive
imaging modality, which gives substantial information and
holds a key place despite advent of newer expensive imaging
methods such as CT scan and MRI.
In approach to congenital heart disease (CHD) evaluation
based on chest X-ray (CXR), it is important to have the
following five considerations.
1. What is the bronchial and visceral situs and what is the
cardiac position in the chest?
2. Is there any skeletal abnormalities?
3. Is the heart enlarged? Is the shape (contour) of the
heart normal?
4. Which chambers are dilated?
5. Are the pulmonary arterial markings increased,
decreased or normal?
SITUS AND CARDIAC POSITION
Situs solitus is normal position of viscera and atria. The
radiological characteristic features of situs solitus are a
right-sided liver and a left-sided stomach, identified by air
shadow below left diaphragm. Right main bronchus is
shorter, relatively straight and courses to trilobed right lung
and left main bronchus is longer, more angulated and goes
to bilobed left lung. Situs inversus is mirror image of situs
solitus. Situs ambiguous is an abnormal arrangement of
body organs that is different from the orderly arrangements
of situs solitus or situs inversus. On X-ray the liver is seen
to be placed in midline with variable position of gastric air
shadow.
Cardiac Position
Normally major portion of heart (about two third) lies to
the left of midline. Any position other than left sided heart
represents a cardiac malposition.
K Sharada, V Gouthami
Levocardia : Left-sided heart with base to apex axis
pointing to left
Dextrocardia : Right-sided heart with right cardiac
apex. Base to apex axis points to right.
Mesocardia : Denotes midline heart
Dextroposition : Heart shifted rightward by extra cardiac
causes
SKELETAL ABNORMALITIES
All areas of chest X-ray are to be observed systematically
including cervical spine, shoulder girdle, clavicles, thoracic
spine, chest wall and subdiaphragmatic areas. Children with
Down’s syndrome frequently have only 11 pairs of ribs
and double manubrial ossification centers. Premature fusion
of sternal segments is common in cyanotic heart disease.
Vertebral anomaly (scoliosis) is present in 6 percent of
children with cyanotic heart disease mainly in TOF and
truncus. A coarse and trabecular pattern with expansion of
the medullary cavity of the ribs is seen in chronic anemia
and in cyanotic heart disease. Rib notching is commonly
bilateral in coarctation of aorta and unilateral in children
following classic Blalock-Taussig procedure (subclavian-
pulmonary artery anastomosis).
IS THE HEART ENLARGED? ARE THE
CONTOURS NORMAL?
Normal cardiothoracic (CT) ratio is 0.41-0.5 in adults.
Upper limit of normal is 0.55 in infants and 0.60 in neonates.
Structures producing the borders of cardiac silhouette
(contours), the landmarks of cardiac and extra-cardiac
structures in a normal chest X-ray are shown in Figure 5.3.
 34 Clinical Diagnosis of Congenital Heart Disease

Figs 5.1A and B: X-ray chest showing: (A) Situs solitus, dextrocardia, gastric air shadow is on the left with cardiac base to apex
axis pointing to right. (B) situs inversus levocardia, gastric air shadow is on the right with cardiac base to apex axis pointing to
left

Fig. 5.2: X-ray chest showing huge cardiomegaly due to RA
and RV enlargement (Courtesy: Dr PK Pati, CMC, Vellore)
The thymic shadow is normally present in neonates it
persists till about one year of age. It regresses very fast in
setting of cyanotic heart diseases.
Cardiomegaly
Cardiomegaly may be generalized or localized to specific
chambers it may be transient or sustained.
Fig. 5.3: Schematic diagram showing normal position of cardiac
structures in a frontal view of chest X-ray. (S—superior vena
cava, A—arch of aorta (aortic knuckle), RPA—right pulmonary
artery, LPA—left pulmonary artery, PV—pulmonary vein,
L—left atrial appendage, RA—right atrium, LV—left ventricle,
RV—right ventricle, PA—pulmonary artery. T—tricuspid valve,
M—mitral valve, AV—aortic valve, Pva—pulmonary valve,
RL—right lung, LL—left lung) Dotted lines show the position
of structures which are normally not distinguished in chest
X-ray

Generalized cardiac enlargement wherein the cardiac

silhouette is enlarged in all diameters and has smooth margins uncommon manifestation of CHD. The following are some
with a broad lower pole and a narrow upper pole is an of the conditions associated with generalized cardiomegaly.
 Radiological Diagnosis of Congenital Heart Diseases
Conditions producing reversible generalized cardio-
megaly are pericardial effusion, congestive cardiac failure,
idiopathic myocarditis, infections, anemia, complication of
chemotherapy for neoplasia and metabolic disorders.
Conditions producing persistent generalized cardio-
megaly are endocardial fibroelastosis, glycogen storage
disease, systemic arteriovenous fistula and neoplasm of the
heart (such as rhabdomyoma).
The congenital heart diseases that are associated with
generalized cardiomegaly are few like anomalous left
coronary artery from pulmonary artery (ALCAPA),
Ebstein’s anomaly, HLHS and congenital MR. Most of them
are localized to specific chamber enlargement.
Characteristic Cardiac Contour in
Some Cardiac Anomalies
1. Boot shaped (couer-en-Sabot)—TOF
2. Egg on end—dTGA
3. Figure of ‘8’ (Snowman)—TAPVC
4. Flask shaped (huge globular)—Ebstein’s anomaly.
5. Sitting duck shaped—Truncus arteriosus
6. Globular heart in neonate (reverse of ‘5’)—HLHS.
Microcardia
Generalized decrease in cardiac size is known as micro-
cardia. Etiological factors are obstructive emphysema,
compression and distortion of heart, Addison’s disease,
severe dehydration, starvation and anorexia nervosa.
WHICH CHAMBERS ARE DILATED?
Features of selective chamber enlargement are:
Left Atrial Enlargement (LAE)
In frontal view (PA), the signs of LAE are:
a. Elevation of left main bronchus leading to splaying of
the carina (angle between the two main bronchi), normal
carinal angle is 45o-85o. Enlarged LA elevates the left
bronchus increasing the angle (Fig. 5.4)
b. The cardiac border enlarges to right, initially seen as
double density in cardiac silhouette. As the LA enlarges
further it forms the right heart border (to differentiate
RA from LA, RA border is limited by entry of IVC
below, LA border passes medially towards spine before
fading) (Fig. 5.4)
35
Fig. 5.4: Schematic diagram showing features of left atrial
enlargement (LAE) in chest X-ray, thin arrows show mild LAE,
thick arrows show more severe LAE. Left bronchus is elevated
(splaying of carina) (T—trachea, LB—left bronchus)
c. With huge dilatation of LA, cardiac border approaches
within an inch of lateral chest wall on right and left—
termed as aneurysm of LA.
d. Displacement of descending aorta to left (Bedford’s
sign).
Enlargement of LA Appendage (LAA)
In PA view
• Initially this is seen as straightening of left heart border.
• Next, there occur discrete bulge on the left, immediately
below pulmonary arterial shadow and left main
bronchus.
In lateral view
• Left main bronchus is seen displaced backwards.
Etiology of LAE in CHD
• Pressure overload of left ventricle (LV) that produces
elevated LV filling pressure: aortic stenosis, hypertension,
hypertrophic cardiomyopathy and coarctation of aorta.
• Volume overload of LV: Left-to-right shunts at post-
tricuspid level (VSD, PDA , AP window, Rupture of
sinus of Valsalva aneurysm).
• LA out flow obstruction: LA myxoma, mitral stenosis.
• Idiopathic LAE.
• Congenital absence of left pericardium—herniation of
LAA leads to appearance of selective LAA enlargement.
Note: LA enlargement is absent in TAPVC and common atrium.
 36 Clinical Diagnosis of Congenital Heart Disease

Left Ventricular Enlargement (LVE)

In frontal view; the findings are
• Rounding of cardiac apex.
• Elongation of long axis of LV—mainly to left and
downward (apex may be carried below the diaphragm).
(Figs 5.5A and B).
In lateral view
The cardiac border extends inferiorly and posteriorly, so
density of IVC projects within the cardiac contour.
Causes of LVE are:
• Mitral regurgitation
• Aortic stenosis and regurgitation
• Dilated cardiomyopathy (left sided)
• Univentricular hearts (tricuspid atresia, single ventricle
of LV morphology)
• Post tricuspid left to right shunts (VSD, PDA, AP
window, Rupture of sinus of Valsalva aneurysm to RV)
• Anomalous origin of left coronary artery from
pulmonary artery.

Right Atrial Enlargement (RAE)

(Figs 5.6A and B)
The radiological features of RAE in frontal (PA) view are:
• Right heart border enlarges to the right.
• Increase in the radius of curvature of the right heart
border.

Right Ventricular Enlargement (RVE)

RVE is manifested by
In lateral view
• Earliest sign of RVE is increased area of contact between
front surface of the heart and sternum (normally only
lower half of heart shadow is in contact with sternum).
In frontal view
• Cardiac outline is triangular in configuration whose long
axis is elongated in a left and upward direction
(Figs 5.7A and B).
• Infundibulum of RV may dilate and fill the concavity of
left heart border between pulmonary artery above and
cardiac apex below, leading to a triangular shape or
marked bulge in the above site.
• Characteristic elevation of apex seen in RVE in tetralogy
of Fallot is due to large RV rotating clockwise around
its vertical axis, displacing normal sized LV posteriorly
and tilting it up giving the characteristics boot shape
(Coeur-en-Sabot).
Figs 5.5A and B: (A) Schematic diagram showing features of
left ventricular enlargement in chest X-ray, arrow points to left
ventricular apex which is carried below the diaphragm.
(B) Chest X-ray showing left ventricular enlargement
Causes of Selective RAE
Abnormalities of tricuspid valve such as tricuspid stenosis,
tricuspid atresia and Ebstein’s anomaly of tricuspid valve.
Causes of RAE and RVE
• Left to right shunt at atrial levels: atrial septal defect,
partial and total anomalous pulmonary venous
connection, left ventricle to right atrial shunt, rupture
of sinus of Valsalva aneurysm into RA
• Severe pulmonary arterial hypertension with TR/PR
 Radiological Diagnosis of Congenital Heart Diseases
Figs 5.6A and B: (A) Schematic diagram showing features of
right atrial enlargement (bold arrow) and pulmonary arterial
enlargement (thin arrow). (B) Chest X-ray of right atrial and
pulmonary arterial enlargement
• Severe obstructive lesions of left sided structures in
newborn like hypoplastic left heart syndrome, pre-ductal
coarctation and aortic arch interruption
• Complete transposition of great arteries
• Severe pulmonary stenosis with TR/PR.
Dilated RV outflow tract is seen in Ebstein’s anomaly
and RV endomyocardial fibrosis.
Pulmonary Arterial Enlargement
Normally the main pulmonary artery is seen in the left
margin below the aortic knuckle. It is flat or slightly convex
outwards. The convexity increases with enlargement of
main pulmonary artery producing a bulge (Fig. 5.6).
Conditions producing enlargement of pulmonary artery
are:
37
Figs 5.7A and B: (A) Schematic diagram showing features of
right ventricular enlargement, arrow points to cardiac apex
which is elevated above and outward. (B) Chest X-ray of right
ventricular enlargement
1. Large left to right shunts
2. Pulmonary arterial hypertension
3. Idiopathic dilatation of pulmonary artery
4. Valvular PS (post stenotic dilatation), except dysplastic
PV/Noonan syndrome.
Aortic Enlargement
The ascending aorta and aortic arch produce the right upper
cardiac border and the aortic knuckle on the left side
(Fig. 5.3).
Ascending aortic shadow may be prominent in aortic
stenosis and coarctation of aorta. Normally the aortic arch
is left sided (aorta arches over the left bronchus). In right
aortic arch radiographically an indentation may be seen on
the right lower border of trachea. Common cyanotic heart
 38 Clinical Diagnosis of Congenital Heart Disease

diseases associated with right aortic arch are pulmonary
atresia with VSD, severe TOF, truncus arteriosus and TGA.
In pulmonary atresia with intact ventricular septum aortic
arch is always left sided.
ARE THE PULMONARY ARTERIAL MARKINGS—
INCREASED, DECREASED OR NORMAL?
Radiographic Appearance of
Normal Pulmonary Blood Flow
Normally left border of main pulmonary artery (MPA) forms
the left border of cardiac silhouette below aortic knuckle
and above left atrial appendage (pulmonary bay) (Fig. 5.3).
Normal pulmonary bay is concave or straight (Enlargement
of MPA causes convexity of bay). Left pulmonary artery
(LPA) and left hilum are 1 cm above right pulmonary artery
(RPA). Pulmonary arteries radiate from hila 2-3 cm above
pulmonary venous confluence. In children ratio of right
descending pulmonary artery (RDPA) to trachea is < 1.0.
In adults the transverse diameter of RDPA just above origin
of right middle lobe branch or 1.25 cm distal to origin of
right upper lobe branch is; 10-16 mm in males, 9-15 mm in
females. The intrapulmonary branches are approximately
the same diameter as accompanying bronchi in middle third
of lung fields. A radiological classification is given in
Table 5.1 based on pulmonary arterial markings and cardiac
size.
Features of Increased Pulmonary Flow
(Pulmonary Plethora)
Increased pulmonary flow is considered when
1. Blood vessels become visible on outer one-third of lungs
(at least six vessels can be traced to the outer third).
When hilar and intrapulmonary vessels are uniformly
enlarged it is very suggestive of shunt lesions.
2. Ratio of RDPA to trachea > 1.
3. Right lower pulmonary arterial diameter > 14 mm
suggests increased flow and > 17 mm is very suggestive.
4. Prominent end-on vessels seen at hilum.
5. Enface vessels below 10th posterior rib.
6. Prominent vessels present below crest of diaphragm.
7. Ratio of vessel to adjacent bronchus > 2:1.
Conditions Producing
Increased Pulmonary Flow
Cardiac Conditions
Acyanotic Heart Diseases
Large left to right shunts with low pulmonary vascular
resistance is responsible for pulmonary plethora. The
conditions are:
1. Pre-tricuspid left to right shunts: ASD, partial anomalous
pulmonary venous connection. The other features of

TABLE 5.1: Radiographic classification of CHD based on pulmonary arterial markings and cardiac size in chest X-ray

Acyanotic Cyanotic

Normal pulmonary blood flow LV out flow obstruction: Coarctation, Pulmonary arteriovenous fistula
with normal CT ratio Aortic arch interruption, AS

LV inflow obstruction: Cor triatriatum, Anomalous systemic venous drainage to LA

pulmonary vein atresia, congenital
mitral valve stenosis.
Vascular ring

Increased pulmonary blood flow with Left to right shunts: ASD, VSD, AVSD, TAPVC, Truncus arteriosus, TGA
increased CT ratio PDA, APW, RSOV

Decreased pulmonary blood flow

a. Normal CT ratio Acyanotic Fallot Tetralogy of Fallot and other
b. Cardiomegaly Severe PS with RV dysfunction/TR Fallot’s physiologies, severe PS with ASD
Ebstein’s anomaly of tricuspid valve

(CT—cardiothoracic, LV—left ventricle, AS—aortic stenosis, ASD—atrial septal defect, VSD—ventricular septal defect, AVSD—atrio-
ventricular septal defect, PDA – patent ductus arteriosus, APW—aorto-pulmonary window, RSOV—Rupture of sinus of Valsalva aneurysm.
TAPVC—total anomalous pulmonary venous drainage, TGA—complete transposition of great arteries. RV—right ventricle, TR—tricuspid
regurgitation)
 Radiological Diagnosis of Congenital Heart Diseases
pre-tricuspid shunts in addition to increased pulmonary
vascular markings are
• Enlargement of heart
• Convexity of MPA segment with small aortic knob
• No evidence of left atrial enlargement.
2. Ventricular septal defect (VSD)
• Small left-to-right shunt with restrictive VSD with
pulmonary artery (PA) pressure less than 50 percent
of systemic produce normal radiographs.
• Prominent pulmonary vascular markings are seen
when pulmonary/systemic blood flow (Qp/Qs) ratio
is 1.7: 1 or more.
• Combination of increased pulmonary vascular
markings, convex MPA segment, small aortic
knuckle, LA and LV enlargement indicate VSD.
• Large VSD with significant pulmonary arterial
hypertension (PA pressure 85% of or equal to
systemic pressure) with a balanced or reversed shunt
produce: no cardiomegaly (in late stages, RVE
occurs), there are decreased peripheral vascular
markings, increase in size of RPA and LPA at hilum
and reduced evidence of LAE.
3. Atrioventricular septal defect (AVSD): Similar to VSD
but cardiomegaly is greater with markedly dilated and
rounder heart. This is the most common cardiac lesion
associated with Down’s syndrome and identification
of only 11 pairs of ribs assists in the diagnosis of this
syndrome.
4. Patent ductus arteriosus (PDA)
• Similar radiographic features as that of VSD except
for a larger aortic arch. Ductus (ductal bump) itself
is seen as a separate convexity between the aortic
knuckle and pulmonary arterial segment. In older
patients calcification may be seen in the ductus.
• Large ductus with pulmonary hypertension and
reversal of shunt: LV and LA are nearly normal,
ascending aorta is normal, MPA and its main
branches are dilated and peripheral pulmonary
vascularity is reduced.
Cyanotic Heart Disease
In presence of cyanosis increased pulmonary flow is seen
in
In infants: More common conditions are dTGA, TAPVC,
Single ventricle with TGA and Truncus arteriosus.
39
In adults: Common conditions are TAPVC, Single ventricle
with TGA and rarely Truncus arteriosus.
Due to systemic collateral arteries: Pulmonary atresia with
VSD and severe TOF.
1. TAPVC
• Supracardiac type: X-ray may be pathognomonic.
In this, all four pulmonary veins drain into a common
chamber that empties by way of a left vertical vein
into the innominate vein, then to the right superior
vena cava and into the RA. CXR shows characteristic
widening of the superior mediastinum producing a
snowman or figure-of-eight silhouette. Cardiomegaly
and pulmonary plethora are seen.
• Infradiaphragmatic type: Due to obstruction to
pulmonary venous return pulmonary venous
hypertension with prominent Kerley B lines are seen
with normal heart size and configuration.
2. Truncus arteriosus
• Cardiomegaly with evidence of LAE and biventri-
cular enlargement, concave pulmonary arterial
segment, increased pulmonary vascular markings
and in 25 percent cases right aortic arch strongly
suggest this condition.
• At times, a prominent LPA casts a shadow higher
up as it emerges from the common trunk and curves
upward and to the left. This ‘left hilar comma’ is
especially more prominent when the aortic arch is
right-sided.
3. Complete transposition of great arteries (TGA)
• Aorta arises from RV and is anterior to PA that arises
from LV. Radiographic findings consist of cardio-
megaly with oval or egg-shaped configuration,
increased pulmonary vascular markings and a narrow
superior mediastinum because of the transposed
vessels and absence of thymus.
4. Taussig-Bing anomaly.
5. Tricuspid atresia, large VSD, no PS.
6. Pulmonary atresia with large VSD and as large
collaterals.
7. Single ventricle with low pulmonary vascular resistance
and no PS.
8. Common atrium.
Cyanotic heart disease with increased vascularity in
infants is commonly due to TGA, single ventricle with TGA,
truncus arteriosus and TAPVC.
 40 Clinical Diagnosis of Congenital Heart Disease
Noncardiac Conditions
Anemia, thyrotoxicosis, systemic AV fistula and pregnancy.
Decreased Pulmonary Blood Flow
(Pulmonary Oligemia)
The radiologic signs of pulmonary oligemia are:
• Concave/absent MPA shadow.
• Lung fields appear like an over penetrated film.
• Absence of vascular markings in peripheral one third.
Not more than 4 vessels can be traced to the periphery.
• Decrease in size and density of hilar vessels on lateral
X-ray.
Causes of decreased pulmonary arterial markings
1. Tetralogy of Fallot, TOF with absent pulmonary valve
(main pulmonary artery is dilated but peripheral lung
fields are oligemic).
2. Other conditions associated with pulmonary stenosis
(PS) like single ventricle with PS, DORV with PS, and
TGA with PS.
3. Critical pulmonary stenosis (PS).
4. Pulmonary atresia with intact ventricular septum.
5. Eisenmenger syndrome.
6. Ebstein’s malformation of tricuspid valve.
7. Asplenia syndrome.
CHD with Normal Pulmonary Blood Flow
A. Acyanotic heart disease
1. Coarctation of aorta: In coarctation the charac-
teristics X-ray findings are seen in the aortic knob
and ribs. The cardiac size remains nearly normal.
Bilateral rib notching, the classic sign of this condi-
tion—is usually seen beyond 5 years age. Rib
notching is seen between third and eighth posterior
ribs due to collateral flow through dilated posterior
intercostal arteries. In older children and adults, lateral
X-ray shows retrosternal scalloping due to dilated
internal mammary arteries. Combination of dilated
left subclavian artery above the coarctation and a
dilated descending aorta below produces a distinctive
‘figure 3’ silhouette.
2. Aortic arch interruption: Isolated arch interruption
without a ductus or VSD is radiologically similar to
coarctation of aorta, including notching of ribs.
Trachea tends to be midline not deviated by the
crossing aortic arch. The ascending aorta is small
with direct vertical ascent towards the neck and the
aortic knuckle is absent.
3. Congenital aortic stenosis (AS): Valvular AS is
associated with conspicuous post-stenotic dilatation
of the ascending aorta. The aortic root is undersized
in some forms of supravalvular AS. Detection of
calcification on lateral view is suggestive of valvular
stenosis. LA enlargement is absent or mild in some
cases. Cardiac size is often normal and may show
mild to moderate increase in convexity of left
ventricular silhouette, with the LV enlarging
downward to the left and posterior. When left ventri-
cular failure occurs, pulmonary venous congestion
is prominent.
4. Mitral inflow obstructions: (Congenital mitral ste-
nosis, supravalvar mitral ring, obstructive cortria-
triatum, pulmonary vein stenosis/atresia). Congenital
MS occurs when anomalous development of the
mitral valve results in obstruction to blood flow from
LA to LV. CXR shows LA enlargement and signs
of pulmonary venous hypertension; redistribution
of pulmonary blood flow to the upper lobes and
Kerley-B lines Pulmonary edema may be seen.
Pulmonary vein stenosis or atresia: If unilateral, CXR
shows unilateral pneumonia or atelectasis.
Pulmonary vascular markings on the obstructed side
are normal or diminished, whereas the uninvolved
lung demonstrates pulmonary edema with Kerley-B
lines and pleural effusion. There is hyperinflation of
normal lung and hypoplasia of the involved lung.
Heart size is normal, but MPA may be prominent.
Common pulmonary vein atresia or obstruction: It
is extremely rare and infants present in first hours
of life with severe respiratory distress and cyanosis.
CXR shows normal cardiac size with severe
pulmonary edema.
5. Vascular ring: It is responsible for stridor and respi-
ratory distress, the common causes are:
• Double aortic arch with a common descending
aorta (usually on left).
• A right aortic arch with aberrant origin of left
subclavian artery and a ligamentum arteriosum
or ductus arteriosus to complete the ring. These
are identified by location of vascular impression
on barium esophagogram.
• Pulmonary artery sling in which left pulmonary
artery arises from right pulmonary artery and
passes behind trachea and infront of esophagus
 Radiological Diagnosis of Congenital Heart Diseases
is visible on lateral X-ray as oval shadow
between air-filled trachea and the barium-
opacified esophagus.
6. Congenitally corrected TGA: Great vessels are
transposed and ventricles are inverted. PA arise
posteriorly from inverted LV. The leftward position
of ascending aorta produces a straight left cardiac
border. Absence of ascending aorta in its normal
right mediastinal position unmasks a prominent RPA
that is seemingly higher. If associated shunt is
present, cardiomegaly with pulmonary plethora is
seen. In addition, the apical portion of interventricular
groove is sometimes seen as a shallow indentation
or ‘septal notch’ just above left hemi diaphragm.
B. Cyanotic heart disease: Pulmonary arteriovenous
fistula: These are usually multiple, but single lesions may
occur. Fistulas are seen as round or oval opacities in
the lung fields on chest X-ray, most often, in the lower
lobes. Cardiac size is usually normal. Anomalous
systemic venous communication like persistent left
superior vena cava to LA produces cyanosis with normal
pulmonary vascularity and no cardiomegaly.
PULMONARY EDEMA
Pulmonary edema results when LA mean pressure is more
than 25 mm of Hg, as fluid comes to the alveolar spaces.
Radiologically this is manifest by increased opacity in the
inner one third of lung fields on both sides termed as
‘Butterfly appearance’ or ‘Bat wing appearance’. It is an
evanescent sign. Pulmonary edema is produced due to left
ventricular failure of any etiology.
41
PULMONARY VENOUS HYPERTENSION (PVH)
Causes of PVH are left ventricular dysfunction, mitral
stenosis, supramitral ring, cortriatriatum, pulmonary venous
stenosis and obstructive TAPVC. Pulmonary venous
hypertension produces pulmonary interstitial edema.
Radiologically this is identified by
1. Increased vascular marking in the upper part of lung
fields (redistribution of pulmonary blood flow produces
increased flow to the upper lobes and decreased flow
to the lower lobes).
2. Large caliber vessels in the 1st intercostal space.
3. Kerley B. Lines—When mean pulmonary venous
pressure or arterial wedge pressure exceeds oncotic
pressure (more than 18-25 mm of Hg) the lymphatic
channels of interlobular septa at the base becomes
prominent which are known as Kerley B lines.
4. In severe PVH whole lung fields may appear ‘ground
glass’ like. The hilar region is ill defined or fuzzy.
PULMONARY ARTERIAL HYPERTENSION (PAH)
Radiological signs of PAH are pulmonary oligemia with
prominence of central pulmonary arteries like enlarged main
pulmonary artery and its proximal branches. Vascular
markings of outer one third of both lung fields are not
present. RAE and RVE may occur due to PR and TR.
Conditions producing PVH lead to PAH. Long standing left
to right shunts lead to pulmonary vascular disease and PAH.
It may also be idiopathic due to primary pulmonary arterial
hypertension (PPH).
In spite of several advanced modalities this conventional
radiographic examination and its correct interpretation to
reach at a clinical diagnosis still remains, a mainstay of
cardiac imaging.
 6 Clinical Approach to Diagnosis of
Cardiac Malpositions
INTRODUCTION
Normally the respiratory, cardiovascular and gastrointestinal
organs are asymmetrically placed inside the thoracic and
abdominal cavity. Their morphology and positions generally
follow a set pattern in majority and are almost constant in
each individual. In some rare developmental defects, the
viscera are not in their normal position. When viscera are
abnormally placed, the position of heart may become
abnormal. Not only that, abnormalities occur in the venous
system communicating to heart, in the atrioventricular
relationships, in the interatrial relationship, in the
interventricular relationship and in the connection and
position of great arteries coming out of the heart. These
abnormalities may also occur with normal visceral positions.
DEFINITION
Abnormal position, relation and communications of systemic
veins, cardiac chambers and great arteries with or without
the abnormal position of abdomino-thoracic viscera are
broadly described under cardiac malpositions.
HISTORY
Early descriptions pertaining to cardiac malpositions could
be traced back to as early as 17th century. First report of
dextrocardia was made by Fabricius in 1606. However,
definite descriptions of dextrocardia were made by Paltauf
(1901), Maldelstam and Reinberg (1928), Lichtman (1931),
De la Cruz (1956), Elliot et al (1966) and Campbell et al
(1952). All of them have contributed greatly to the
understanding of cardiac malpositions. The major
contribution in the classification, description and diagnosis
was made by Van Praagh in 1964 and in his subsequent
publications.
M Behera, BR Mishra
INCIDENCE
Incidence of dextrocardia irrespective of situs is about 1 in
20,000 live births. 3 percent of neonates with organic heart
disease have visceral heterotaxy.
EMBRYOLOGY
During embryogenesis, different components of the
primitive heart form a straight tube with the atria at the
caudal end and conus at the cephalic end. Then the straight
tube folds in right ward direction so that the inflow portion
of the morphologic right ventricle remains to the right of
morphologic left ventricle. Such folding of the straight heart
tube is known as d-loop. Subsequently the heart pivots to
left so that the major ventricular portion remains left to the
midline. After the loop, the truncus appear which becomes
continuous with the conal segment at its ventral end and
the other end becomes continuous with the aortic arches.
Subsequently the truncus is divided by a spiral septum to
form the pulmonary artery and aorta. Simultaneously the
sub-pulmonic portion of the conus persists and moves
anteriorly to become continuous with the anterior (right)
ventricle where as the sub-aortic portion of conus is
absorbed, so that the aorta moves posteriorly and remain in
fibrous continuity with mitral valve (due to absent conus)
and connected to left ventricle.
Cardiac malpositions occur due to abnormal develop-
ments of one or more of the above process. Abnormal loop
of the straight tube, abnormal pivoting and abnormal
development of conus are all responsible for cardiac
malpositions that are described below. Abnormalities in
visceral positions are mainly due to malrotation or non-
rotation of different parts of primitive gut and may be due
to genetic defects, which determines sidedness of different
organs.
 46 Clinical Diagnosis of Congenital Heart Disease

SITUS
This means site, the term situs is used to indicate position
of both abdominal and thoracic viscera.

Situs Solitus
Normal position of viscera in the abdomen and thorax is
called situs solitus. In situs solitus, the liver is on the right
side, stomach and spleen on the left. Trilobed lung on the
right receives a relatively short and straight bronchus;
bilobed lung on the left receives a relatively longer and
angulated bronchus (Fig. 6.1). Inferior vena cava remains
to the right of the spine and enters the morphologic right
atrium, which is placed, on the right side. Pulmonary veins
enter morphologic left atrium that is placed on the left side.
Aorta descends on the left side of spine. Males in upright
position have left testicle lower than the right.
When abdominal and thoracic viscera are normally
Fig. 6.1: Schematic diagram of normal position of viscera and
placed, both atria are also normally placed. If these viscera
heart (situs solitus levocardia) (RA—right atrium, RV—right
are abnormally placed then atria are also abnormally placed. ventricle, Ao—aorta, PA—pulmonary artery, IVC—inferior
This association of visceral position to atrial position is called vena cava, SVC—superior vena cava, T—trachea, S—spleen)
viscero-atrial concordance. Of course, there are very rare
exceptions to this general rule. There is also a high degree
Situs Inversus
of concordance relationship of bronchial sidedness to atrial
sidedness. When position of viscera in the abdomen and thorax are
To identify normal situs, in addition to clinical inverted in a mirror image manner, it is called situs inversus.
examination, EGG and chest X-ray are very helpful. Hepatic In situs inversus, the liver is on the left side, stomach and
dullness on percussion above the right costal margin and spleen are on the right. Trilobed lung on the left receive a
tympanic note on percussion below the left costal margin short relatively straight bronchus while bilobed lung on the
give a very good indication of normal position of liver and right receive a relatively long and angulated bronchus.
stomach respectively. In chest X-ray presence of gastric Inferior vena cava remains to the left of spine and enters
air shadow on the left side indicates normal situs. The right the morphologic right atrium that is placed on the left side.
bronchus is short and has a relatively straight origin from Pulmonary veins enter morphologic left atrium that is placed
trachea which goes above right pulmonary artery on the right side. Aorta descends on the right side of spine.
(eparterial); left bronchus is longer, almost twice that of In upright position, males have right testicle lower than the
right bronchus and more angulated (horizontal) which goes left.
below left pulmonary artery (hyparterial). Left side of the Clinically in situs inversus, hepatic dullness is present
diaphragm is at lower level when compared to right side of above the left costal margin and tympanic note on percussion
diaphragm. As a rule, the side of diaphragm that is below is felt below the right costal margin, Chest X-ray is very
the cardiac apex is lower than the other side. helpful indicating inverted position of liver and stomach.
Echocardiography confirms situs solitus by identifying liver Gastric air shadow is seen in right side, and the liver shadow
on the right side in a subcostal window and tracing the on left (Fig. 6.7). Short and straight bronchus originates
inferior vena cava that is placed right to the spine to the from trachea on left side and longer and more horizontal
right atrium. bronchus from right.
 Clinical Approach to Diagnosis of Cardiac Malpositions 47

Due to viscero-atrial concordance, in situs inversus,

the atria are also inverted. As the morphologic right atrium
with its SA node remains on the left side, the P axis in ECG
is oriented to right with inverted ‘P’ in lead I, aVL and
upright ‘P’in aVR. This resembles an arm lead reversal in a
normal individual with situs solitus. Echocardiography
confirms situs inversus by identifying liver on the left side
in a subcostal window and tracing the inferior vena cava
that is placed left to the spine to the morphologic right
atrium that is also on the left side.

Situs Ambiguous
When visceral position does not confer either to situs solitus
nor to situs inversus, the condition is called situs ambiguous
or visceral heterotaxy (Fig. 6.2). Normal asymmetrical
viscera are placed more or less symmetrically. Liver is
centrally placed. Lungs and bronchi are symmetrical,
position of stomach is also abnormal, but it is the position
of spleen, which is embryologically destined to be a left
sided organ, forms the basis of further division of visceral
heterotaxy or situs ambiguous. Abdominal ultrasonic
examination is required for identification of spleen.
When spleen is absent (Asplenia) either side of mid line
resemble right side (right isomerism) also known as bilateral
right sidedness. Both lungs are trilobed; bronchi are short,
straight and symmetrical. There is a central liver having
two right lobes placed like a mirror image. Due to absence
of the spleen Howell Jolly bodies, Heinz bodies, target cells
are seen in the peripheral blood. The neonate is susceptible
for bacterial infection and septicemia. Both atria resemble
right atrium with bilateral SVC and SA node. It is common
in males and associated with complex cyanotic congenital
heart diseases having low pulmonary flow. The usual
associations with asplenia are pulmonary stenosis, complete
transposition, TAPVC and complete AV canal defects.
Polysplenia is opposite of Asplenia. Here both sides
resemble left side known as left isomerism or bilateral left
sidedness. Both lungs are bilobed; bronchi are long, more
horizontal and symmetrical. There is a central liver as in
asplenia. Though a single normal sized spleen is absent,
multiple small spleens of variable size (splenunculi) are
present bilaterally. Combined mass of all splenunculi
approximates the normal splenic mass. Both atria resemble
left atrium with bilateral absence of SA node, pulmonary
veins communicate to each atrium from respective side.
Fig. 6.2: Chest X-ray showing gastric shadow in the
middle (situs ambiguous)
There is IVC interruption with azygous or hemiazygous
continuation. It is More commonly seen in females and
associated with complex congenital heart diseases having
high pulmonary flow and congestive heart failure but
generally less severe than asplenic infants. In ECG ‘P’ axis
may be superior due to absence of SA node which though
not pathognomonic of polysplenia but is suggestive of the
same.
Position of the Heart
Normally major portion of cardiac mass remain left to the
midline (Levocardia), but the heart may remain on the right
side (Dextrocardia), it may remain in the middle of thorax
(Mesocardia). Position of heart can be determined by
palpating the apex and determining area of cardiac dullness
by percussion. However, cardiac position is best determined
by a chest X-ray. Here the base to apex axis of the cardiac
shadow is used to determine cardiac position. Normally
the axis points to left (Levocardia), in dextrocardia it points
to right and in mesocardia cardiac mass remain equally to
both sides, the base to apex axis does not point either to left
or to right (Fig. 6.3). The diaphragm below the cardiac
apex is placed lower than the other side.
In some pathological conditions of lung, pleura or
diaphragm, the heart may be pushed or pulled to the right
 48 Clinical Diagnosis of Congenital Heart Disease

Fig. 6.3: Chest X-ray showing midline cardiac shadow

(mesocardia)
Fig. 6.4: Schematic diagram of situs solitus dextrocardia,
from its normal left sided position. In these conditions, the Normally positioned viscera with cardiac base to apex axis
major portion of heart may remain to right of midline but pointing to right (RA—right atrium, LA—left atrium, V—ventricle,
the base to apex axis is still pointed to left. Such type of Ao—aorta, PA—pulmonary artery, IVC—inferior vena cava,
positional abnormality is called ‘Dextroversion’ which is DA—descending, aorta, T—trachea, S—spleen)
acquired (secondary to other conditions) and not to be con-
fused with dextrocardia, which is a developmental disorder.
Very rarely the heart may be found outside thorax
(Ectopia cordis), in the neck, abdomen or partly in abdomen
and partly in thorax. And usually associated with complex
congenital heart diseases.

Situs Solitus Levocardia

In this condition, the abdominal and thoracic viscera are
normally placed and the cardiac base to apex axis points to
left. Therefore, it represents normal individual (Fig. 6.1).

Situs Solitus Dextrocardia

Here, the abdominal and thoracic viscera are normally placed
but the cardiac base to apex axis points to right. Therefore,
the position of heart is abnormal in relation to the other
viscera. It is known as isolated dextrocardia (Fig. 6.4).
This is due to defect in pivoting of embryonic heart to left.
It is usually associated with different types of congenital
Fig. 6.5: Schematic diagram of situs inversus dextrocardia,
heart diseases.
Inverted positioned viscera with cardiac base to apex axis
Situs Inversus Dextrocardia pointing to right (MRA—morphologic right atrium, V—ventricle,
Ao—aorta, PA—pulmonary artery, IVC—inferior vena cava,
In this condition, the abdominal and thoracic viscera are SVC—superior vena cava, T—trachea, S—spleen,
placed in a manner opposite to that of normal in a mirror DA—descending aorta)
 Clinical Approach to Diagnosis of Cardiac Malpositions 49

image fashion including cardiac base to apex axis that points

to right. In other words, all organs in the body are reversed
(situs inversus totalis) (Fig. 6.5). These patients usually do
not have congenital heart disease, although, the incidence
of congenital heart disease in situs inversus dextrocardia is
reported to be more than the normal population. They may
come to the notice when examined for some other
conditions. Some times they may be symptomatic due to
sinusitis or bronchiectasis. The combination of sinusitis,
bronchiectasis and situs inversus is known as Kartagener’s
syndrome or Kartagener’s triad. Chest X-Ray in this
condition is often passed as normal unless one does not
notice the side marker letter ‘L’ or ‘R’ in the X-ray film.
As described earlier, characteristic ECG (Fig. 6.6), X-ray
(Fig. 6.7), and echo findings identify this disorder. Reversing
the arm leads and putting chest leads on right side Fig. 6.6: ECG in situs inversus with dextrocardia showing
inverted p wave in I, which is upright in aVR. Normal R wave
corresponding to usual left sided position, a completely
progression is absent in left sided chest leads. Normal R is
normal ECG may be obtained. Location of pain in seen in right sided leads
cholecystitis, appendicitis and radiation of pain in angina
are opposite to usual sites which has therapeutic implication.

Situs Inversus Levocardia

Here, the abdominal and thoracic viscera are placed in a
manner opposite to that of normal in a mirror image fashion
but the cardiac base to apex axis points to left (Fig. 6.8).
Therefore, the position of heart is abnormal in relation to
the other viscera (Isolated levocardia) (Fig. 6.9). This
occurs when embryonic heart fails to pivot to right after l-
loop. It is always associated with congenital heart diseases.
In cardiac malpositions the associated congenital heart
diseases may have tetralogy like physiology (VSD + PS),
but simple tetralogy of Fallot is a rare association.

Relation of Embryologic
Loop in Cardiac Malpositions
In the embryo with situs solitus the straight tube folds in
right ward direction (d-loop) so that the inflow portion of
the morphologic right ventricle remains to the right of
morphologic left ventricle. This brings the morphologic RV
anteriorly so that it is connected to the right atrium and the
posterior ventricle (morphologic LV) is connected to the
left atrium. Similarly in situs inversus there occurs left ward
bend of the straight heart tube (l-loop) so that anatomically
normal connections occur as in situs solitus. Therefore, d-
Fig. 6.7: X-ray chest showing situs inversus dextrocardia,
gastric air shadow is on the right and cardiac base to apex
axis is pointing to right (Courtesy : Dr PK Pati, CMC, Vellore)
loop in situs solitus and l-loop in situs inversus are
considered to be ‘concordant loop’ for the respective situs.
In situs solitus when straight heart tube bends leftward
(l-loop), it brings the morphologic LV anteriorly and to right
 50 Clinical Diagnosis of Congenital Heart Disease
Fig. 6.8: Schematic diagram of situs inversus levocardia,
Inverted positioned viscera with cardiac base to apex axis
pointing to left (MRA—morphologic right atrium,
MLA— morphologic left atrium, V—ventricle, Ao—aorta,
PA—pulmonary artery, IVC—inferior vena cava, T—trachea,
S— spleen, DA—descending aorta)
of morphologic RV. Therefore, the morphologic LV is
connected to the right atrium and morphologic RV to left
atrium respectively. In other words, connections between
atria and ventricles are not anatomically correct which is
known as ‘atrioventricular discordance’. The anterior
ventricle is joined to the conus on the right side, which is
continuous with pulmonary artery, and posterior ventricle
is joined to absorbing left sided conus, so that it is connected
to aorta. This results in anterior LV connecting to pulmonary
artery and posterior RV connecting to aorta. As a result the
connection between ventricles and great arteries are not
anatomically correct. This creates transposition of great
arteries known as ‘ventriculo-arterial discordance’. Now
in l-loop there are discordance at two levels, one between
atria and ventricles and the other between ventricles and
great arteries (double discordance). Such discordance at
two levels does not hinder normal pathways of blood flow
that is systemic venous blood from right atrium goes to
morphologic LV and to pulmonary artery, pulmonary venous
blood passes from left atrium to morphologic RV and then
to aorta. Although there is transposition of great arteries,
Fig. 6.9: X-ray chest showing situs inversus levocardia, gastric
air shadow is on the right and cardiac base to apex axis is
pointing to left
aorta carries arterial blood and pulmonary artery carries
venous blood. This is what is known as ‘congenitally
corrected trans position of great arteries’.
Similar things happen when d-loop (discordant loop)
occur in situs inversus. To summarize l-loop in situs solitus
and d-loop in situs inversus produce congenitally corrected
transposition of great arteries.
Heart in any position whether dextro, levo or meso in
association with situs solitus, inversus or ambiguous may
have either d-loop or l-loop with almost equal frequency.
In situs solitus with d-loop (normal hearts) the septal
depolarization is directed from left to right producing small
‘q’ waves in lateral leads (I, aVL, V5 and V6) but in l-loop
as the ventricular position is inverted, q waves are seen in
right precordial leads (V1, V2R, V3R) and absent in lateral
leads. The opposite happens in situs inversus.
Very rarely defect in loop may be associated with defect
in cono-truncal development resulting in atrioventricular
discordance but no ventriculo-arterial discordance. It results
in ‘isolated ventricular inversion’ and this has a transposition
physiology.
 Clinical Approach to Diagnosis of Cardiac Malpositions
Relationship of Great Arteries
The ascending aorta and the main pulmonary artery are
normally referred to as the great arteries. The pulmonary
artery is anterior, superior and to the left of aorta because
of the presence of conus (infundibulum) below it. In certain
cono-truncal developmental anomaly, the left side of conus,
which is continuous with aorta, may persist with absorption
of right side. This connects aorta to morphologic RV with
aorta-tricuspid valve discontinuity (presence of conus or
infundibulum), the pulmonary artery joins to morphologic
LV with mitral pulmonary continuity (absent conus)
resulting in ‘complete transposition of great arteries’ also
known as ‘d-transposition’ because of presence of normal
d-loop. Aorta remains anterior and to right of pulmonary
artery. Corrected transposition of great arteries is known
as ‘l-transposition’ due to l-loop as described earlier. In
this condition the position of aorta and pulmonary artery
are reversed. Aorta lies anterior, superior and to left of
pulmonary artery. Normally there is a spiral relation between
ascending aorta and pulmonary artery resulting in
characteristic ‘circle and sausage’ appearance in basal short
axis view of 2-D echocardiogram. The aorta appears like a
circle over which RVOT and pulmonary artery lie like a
sausage. In transpositions, this appearance is lost giving
rise to double circle appearance. Spatial relationship of great
arteries may become abnormal even if their origins are
normal or when both great arteries originate from one
ventricle (double outlet RV and double outlet LV), in this
situation it is known as ‘malposition of great arteries’.
Single great artery: Defect in septation of embryonic
truncus arteriosus result in a single great artery arising from
both ventricles known as ‘persistent truncus arteriosus’.
Aorta in pulmonary atresia and pulmonary artery in aortic
atresia practically represent single great artery, but in these
cases rudimentary aorta or pulmonary artery are commonly
present.
Segmental Approach
A sequential and systematic approach is applied for
diagnosis of congenital heart diseases in general and cardiac
malpositions in particular. Step by step analysis is done of
each developmental segment starting from visceral situs to
51
great arterial relationship. Though echocardiography finally
identifies structures, yet data obtained from clinical exami-
nations, EGG and chest X-ray give important clues and of
great help in clinical diagnosis.
Each segment is examined one after another in the
following steps.
1. Abdominal-thoracic viscera
2. Systemic and pulmonary venous drainage
3. Atria
4. Atrioventricular connections
5. Ventricles
6. Ventriculoarterial connections
7. Great arteries.
Echocardiography is essential in identifying the visceral
situs, each cardiac chamber and the great arteries. Identifi-
cation of these structures is done by following characteristic
findings. Before echocardiographic era, angiocardiography
was used to identify these structures.
Right Atrium
It is known fact that IVC enters only the RA, tracing supra
diaphragmatic portion of IVC in a subcostal view, the
chamber it enters is identified as RA. The other characteristic
features of RA are presence of crista terminalis, a broad
based appendage, pectinate muscles, and the limbus of fossa
ovalis in the interatrial septum.
Left Atrium
Left atrium has no crista, appendage is fingerlike and narrow,
no pectinate muscle is present in LA.
Right Ventricle
It is coarsely trabeculated, an amuscular conus separates
AV valve from semilunar valves. AV valves are part of the
respective ventricles. So that tricuspid valve is always
connected to RV and mitral valve to LV. Tricuspid valve is
trileaflet with three papillary muscles of varying size; Chordal
attachment to septum is present in RV. A thick muscle
band (moderator band) is seen crossing the RV cavity in
4-chamber view near the apex. The tricuspid annulus is
lower and more towards the apex, which is again best seen
in 4-chamber view.
 52 Clinical Diagnosis of Congenital Heart Disease
Left Ventricle
Left ventricular endocardium is smooth, there is no conus
resulting in mitral-aortic fibrous continuity. Mitral valve has
two leaflets with a characteristic fish mouth appearance in
short axis. It contains two papillary muscles of almost equal
size best seen in short axis. It has no septal attachment of
chordae. Mitral annulus is placed above the tricuspid annulus
seen in 4-chamber view.
Great Arteries
Pulmonary artery and aorta are identified by their typical
branching pattern. Pulmonary artery bifurcates to left and
right pulmonary artery, which is best seen in short axis
view. Aorta has the typical arch from which the aortic
branches originate. Arch of aorta is best imaged through a
suprasternal window.
Cardiac malposition is a very complex subject that has
fascinated cardiologists and cardiac surgeons from the
beginning of its recognition. It may not be that simple as
described in this chapter, because a lot of variation may
exist. The complex terminologies when understood properly
and applied clinically in a stepwise manner taking help from
physical finding, EGG, X-ray and echocardiographic data,
a reasonable conclusion may be reached. It is important to
evaluate associated congenital anomalies and assess for
operability for survival of such patients.
SALIENT FEATURES
1. Abnormal position, relation and communications of
viscera, systemic and pulmonary veins, cardiac
chambers and great arteries are broadly described
under cardiac malpositions.
2. Normal position of viscera in the abdomen and thorax
is called situs solitus; a mirror image of normal is called
situs inversus. When visceral position does not confer
to either to situs solitus nor to situs inversus, the
condition is called situs ambiguous or visceral
heterotaxy.
3. Position of spleen forms the basis of further division of
situs ambiguous. When spleen is absent (Asplenia),
both sides resemble right side (right isomerism). When
multiple small spleens are present bilaterally
(Polysplenia), both sides resemble left side known as
left isomerism. Atrial position is judged by visceral
position (viscero-atrial concordance).
4. Cardiac position is determined by its base to apex axis.
Normally the axis points to left (Levocardia), in
dextrocardia it points to right and in mesocardia cardiac
mass remain equally to both sides, Dextroversion is
displacement of heart to right side secondary to
extracardiac causes.
5. Normally the inflow portion of the morphologic right
ventricle remains to the right of morphologic left ventricle
(d-loop). When morphologic LV is anterior and to right
of morphologic RV (l-loop) it produces atrioventricular
and ventriculo-arterial discordance (congenitally
corrected trans position of great arteries).
6. In d-loop, aorta remains to right of pulmonary artery, in
l-loop, aorta is to the left of pulmonary artery.
7. Clinical examination, EGG and X-ray are essential in
determining malposition. A segmental echocardio-
graphic approach confirms the diagnosis.
 7 Left Ventricular Inflow Obstruction
B Dalvi, S Venkatesh, SS Prabhu

INTRODUCTION Abnormal Anatomy

Left ventricular inflow obstruction (LVIO) is a broad term Congenital Mitral Stenosis (CMS)
encompassing a number of malformations either single or
The typical CMS is characterized by variable combination
in combination that originate at or proximal to mitral valve.
of mitral apparatus abnormalities which include thickened
The peculiarity is, these are acyanotic heart diseases, which
and rolled leaflet margins, shortened and thickened chordae
cause pulmonary hypertension in absence of shunt lesion.
tendinae, fibrous obliteration of interchordal spaces, papillary
In the present article pure or relatively pure forms of
muscle hypoplasia and decreased inter papillary distance.
each defect will be emphasized although a variety of ano-
These abnormal attachments give rise to mitral stenosis of
malies coexist. Left ventricular inflow obstructions are
varying severity (Fig. 7.1).
broadly categorized into two groups.
1. Obstruction at mitral valve level:
a. Congenital mitral stenosis
b. Parachute mitral valve
c. Mitral arcade
d. Double orifice mitral valve.
2. Obstruction above mitral valve:
a. Supravalvular stenosing ring or supravalvular
membrane
b. Cor-triatriatum
c. Pulmonary vein stenosis.

OBSTRUCTION AT MITRAL VALVE LEVEL

These lesions basically cause obstruction to mitral flow
from left atrium (LA) to left ventricle (LV) by abnormal
anatomical attachments of mitral valve apparatus. The
degree of severity depends on how much narrowing they
cause to mitral valve orifice, otherwise the fundamental
hemodynamics and clinical features are same in all these
anomalies. Only by way of investigations they are
differentiated from each other.

Incidence Fig. 7.1: Schematic diagram showing congenital mitral steno-

sis, arrow indicates a domed mitral valve with narrow mitral
The incidence of congenital mitral stenosis is about 0.5 orifice. There is left atrial (LA) enlargement, dilated pulmonary
percent of all congenital heart diseases. Male suffer more artery (PA) and right ventricular (RV) hypertrophy,
than females. PV—pulmonary vein and Ao—aorta
 54 Clinical Diagnosis of Congenital Heart Disease
Double Orifice Mitral Valve (DOMV)
An accessory bridge or limbus of tissue may partially or
completely divide the mitral inlet into two orifices that empty
into the left ventricle. This rare condition may be an incidental
echocardiographic finding or may be associated with
valvular stenosis or insufficiency of varying severity.
Mitral Arcade
In this rare condition the mitral valve leaflets are thickened
and the chordae are shortened or absent. The left ventricular
papillary muscle is connected to the anterior mitral leaflet
either directly or by short chordae tendinae. This type of
CMS has been reported in association with a wide variety
of cardiac malformations particularly coarctation of aorta,
sub-aortic membrane and d-TGA.
Parachute Mitral Valve
This form of congenital mitral stenosis is characterized by
insertion of all the variable fused chordae tendinae into a
single papillary muscle group. The valve tissue becomes
funnel like. The commissures are invariably absent and the
orifice, which is located above the papillary muscle, is most
often eccentric. One papillary muscle is normally absent.
This parachute mitral valve may be incompetent giving rise
to mitral regurgitation. Depending on the severity of lesion
the infant may be symptomatic from the very first month
of life or the infant may escape and remain asymptomatic
till adulthood.
Hemodynamics
The basic hemodynamics of all left ventricular inflow
obstructive lesions are same. Isolated mitral valve obstruction
has no apparent hemodynamic effect during fetal life;
therefore neonates are usually asymptomatic at birth. Once
neonatal circulatory adjustments occur, pulmonary flow
increases considerably but due to obstruction at the left
ventricular inflow, LA is unable to push the blood adequately
to LV. Consequently the left atrial, pulmonary venous and
capillary pressure-rise; leads to pulmonary edema. This is
clinically expressed as increased work of breathing,
hypoxemia and hypercapnia. Increased pulmonary capillary
pressure leads to pulmonary vaso-occlusive disease which
in turn leads to increased pulmonary arterial pressure that
cause right ventricular dysfunction. Reduction in left
ventricular volume leads to low cardiac output and decreased
coronary circulation, which cause left ventricular ischemia
and also left ventricular dysfunction.
Clinical Features
All these lesions have common clinical findings with subtle
differences depending on severity of lesions.
The infants may be vary symptomatic in form of dyspnea,
cough, excessive sweating, irritability and subsequently may
develop congestive heart failure, but about 50 percent of
the infants may not exhibit any significant symptoms and
remain asymptomatic till adulthood.
Signs
On examination cyanosis is absent, pulse is normal or of
low volume. JVP shows prominent ‘a’ wave; mean JVP is
raised when there is CHF. Apical impulse is right ventricular
type (due to pulmonary hypertension). On auscultation first
heart sound is normal or soft, mitral valve opening sound
(opening snap) is absent when compared to rheumatic MS,
second heart sound is narrowly split with an accentuated
pulmonary component (because of pulmonary hyper-
tension). Pulmonary ejection click may be audible. A mid
diastolic murmur is audible but the classical murmur of
mitral stenosis is usually muted (that is no rumbling quality
and no presystolic accentuation) because of low cardiac
output, tachycardia and a large RV occupying the precor-
dium. In some cases presence of a pansystolic murmur
over apex indicate associated MR.
Investigations
Electrocardiography
Electrocardiogram shows sinus rhythm, right axis deviation,
right or bi-atrial enlargement and right ventricular
hypertrophy. These findings are secondary to increased
left atrial pressure and pulmonary hypertension.
Radiography
The X-ray chest shows left atrial enlargement, prominent
main pulmonary artery and Kerley B-lines near the
costophrenic angle. Occasionally ground glass appearance
of lung fields may be seen due to severe pulmonary venous
hypertension (Fig. 7.2).
 Left Ventricular Inflow Obstruction
Fig. 7.2:Chest X-ray of congenital mitral stenosis showing
biatrial enlargement, dilated main pulmonary artery and
pulmonary venous hypertension
Echocardiography
Echocardiography is the non-invasive method of choice to
diagnose congenital mitral stenosis accurately with its
severity. Decreased E-F slope of anterior mitral leaflet on
M-mode echo is very characteristic. 2D echo clearly shows
the abnormal leaflets, their excursion, chordae and papillary
muscle anatomy by rotating the transducer at different
planes. Calculation of the mean and peak transvalvular
pressure gradient can be estimated by spectral Doppler from
the velocity flow profile and it is well correlated with hemo-
dynamic data obtained on cardiac catheterization (Fig. 7.3).
Information obtained from transthoracic imaging may be
supplemented with the use of trans esophageal echocardio-
graphy (TEE) which has distinct advantages of imaging
atrial septum, the atrioventricular valves with their chordae
and papillary muscle attachments.
Cross sectional echocardiography also clearly distin-
guishes parachute mitral valve and supra-valvular mitral
ring from congenital mitral stenosis. It is two papillary
muscles with reduced inter-papillary distance or fusion
of papillary muscle which is the important feature to
diagnose congenital mitral stenosis, particularly in
parasternal and apical view. If one papillary muscle is
visualized and situated eccentrically, that is with eccentric
mitral orifice, diagnosis is parachute mitral valve. Severity
is judged by orifice size present in inter chordal space. When
55
Fig. 7.3: Echocardiogram of congenital mitral valve stenosis,
CW Doppler interrogation shows significant gradient across
mitral valve. LA—left atrium, LV—left ventricle (Courtesy:
Dr SK Sahoo, Cuttack)
a membrane is detected above the mitral valve and its
movement is seen in diastole, supravalvular mitral ring is
diagnosed. Mitral arcade is diagnosed by delineating either
two or multiple papillary muscles with absence of chordae
tendinae.
Cardiac Catheterization
It is rarely required for establishing the diagnosis or assess-
ing its severity. Left atrial pressure, pulmonary capillary
wedge pressure is high with a diastolic gradient between
the left ventricle and left atrium. LA angio is done to diagnose
congenital mitral stenosis and LV angio shows status of
the mitral valve apparatus and MR if present.
SUPRAVALVULAR STENOSING RING
Synonym:
Supravalvular Mitral Membrane (SVMM)
The supravalvular mitral ring is a rare congenital heart
anomaly of surgical importance, characterized by an abnor-
mal ridge of connective tissue on the atrial side of the mitral
valve. This supravalvular ring is often circumferential (or
semi circular when seen from atrial side) in shape which
may encroach upon the orifice of the mitral valve and adhere
to the mitral valve leaflet and restrict their movements. It
often causes significant obstruction to left ventricular inflow
but in some cases cause no obstruction and allow normal
flow from the left atrium to the left ventricle. It occurs as
an isolated defect in nearly 90 percent of cases and rest
 56 Clinical Diagnosis of Congenital Heart Disease

cases it is found in association with other congenital heart

diseases such as coarctation of aorta, large ventricular septal
defect and double outlet right ventricle.
The basic hemodynamic, clinical, radiology and ECG
findings are same as congenital mitral stenosis. 2D echo-
cardiography is diagnostic, when the supravalvular
membrane is well visualized above the mitral valve
and its movement is clearly seen in diastole. Spectral
Doppler helps in assessment of severity of obstruction.
Transesophageal echocardiography delineates the anatomy
of this membrane more accurately.

SHONE’S COMPLEX
Shone in 1963 described a group of defects, which goes
by his name as Shone’s complex or Shone’s syndrome. It
consists of supravalvular stenosing ring, parachute mitral
valve, sub-aortic stenosis and coarctation of aorta. When
less than these four abnormalities are associated the condition
is known as partial Shones syndrome. This syndrome
complex usually develops from one source of developmental
anomaly. Clinical manifestations vary from case to case. It
is echocardiography that establishes the diagnosis, however
in some cases cardiac catheterization and angiocardiography
is necessary to confirm the diagnosis before any surgical
procedure. The echocardiographic criteria for diagnosis of
supra valvular mitral membrane and parachute mitral valve
are already described in this chapter. The sub-aortic
membrane is well visualized by 2D echo and more so by
transesophageal echocardiography. Cardiac catheterization
shows increased RA, RV and pulmonary artery wedge
pressure. LV angiography with aortogram helps in better
visualization of the sub-aortic membrane, MR, coarctation
of aorta and other associated lesions, if present.
COR TRIATRIATUM
The entity cor triatriatum represents a membranous dia-
phragm dividing the left atrium into two chambers, the
proximal chamber accepting the pulmonary veins and the
distal chamber communicating with the mitral valve and
the left atrial appendage. Fossa ovalis is present in the distal
chamber (Fig. 7.4).
Although Andral first noticed the partition within left
atrium which divides it into two compartments in 1829, it
was WS Church, first described in detail this malformation
Fig. 7.4: Schematic diagram showing cor-triatriatum, bold arrow
indicates a diaphragm separating left atrium into proximal (PC)
and distal chamber (DC), Pulmonary veins (PV) drain into PC,
fossa ovalis (small arrow) and left atrial appendage (LAA) are
present in DC, RA—right atrium, RV—right ventricle, Ao—
Aorta. PA—pulmonary artery
in 1868. Borst in 1905 named this anomaly as cor triatriatum.
The incidence of this rare anomaly is estimated to be 0.0045
per 1000 live birth.
No unified embryologic theory for genesis of cor
triatriatum exists. During 5th week of intrauterine life there
forms an obstruction mainly diaphragmatic in nature at the
junction of common pulmonary vein and left atrium, due to
failure of normal absorption of common pulmonary vein.
This diaphragmatic fibromuscular partition separates the
true left atrial chamber from pulmonary venous chamber
resulting in cor-triatriatum. Partition inside the left atrium
is known as cor triatriatum sinister, when it occurs inside
the right atrium it is known as cor triatriatum dexter
(extremely rare type).
Hemodynamics
The physiologic consequences of cor triatriatum are directly
related to the size of the orifice between the pulmonary
venous chamber and distal left atrium. The orifice size varies
 Left Ventricular Inflow Obstruction
from 2 mm to 1 cm. When the obstruction is significant it
increases the pulmonary venous pressure leading to
interstitial pulmonary edema and subsequently gives rise to
pulmonary vascular obstructive disease resulting in
pulmonary hypertension, which occasionally exceeds
systemic level.
Clinical Features
Symptoms
Symptoms are related to severity of the lesion. Usually
neonates escape but most of the infants are symptomatic
from infancy or from early childhood. Those who survive
the early crisis grow normally and remain completely
asymptomatic till adulthood. In these patients this clinical
condition is detected when examined for some other
problem.
Signs
Pulse and blood pressure are within normal limits. JVP
shows prominent ‘a’ wave. Decreased or feeble pulse
indicates low cardiac output. No precordial abnormality is
noticed. First heart sound is normal, second heart sound is
closely split with increased P2 (due to pulmonary arterial
hypertension). There is no opening snap. Pulmonary ejection
click is present.
Note: The peculiarity of this anomaly is that in some cases no
murmur is audible; some cases a short systolic murmur or a
mid-diastolic murmur or sometimes a continuous murmur is
audible. All these variations occur due to position of stenotic
lesion and due to the undulating separating membrane. MR
murmur is absent but TR murmur may be present, due to
pulmonary hypertension.
Investigations
Electrocardiography
Electrocardiogram shows sinus rhythm, right axis deviation,
peaked P in II, avF and V1 indicating right atrial enlargement
and R/S >1 in V1 indicating right ventricular hypertrophy.
Radiography
Radiological pictures show cardiomegaly (right ventricular
apex), in symptomatic patients signs of pulmonary
57
congestion (Bat wing appearance), and sometimes diffuse
hazy ground glass appearance is seen. In some cases Kerley-
B lines over costophrenic angles are present. Prominent
venous engorgement of the upper pulmonary veins results
in staghorn sign. MPA is dilated. Left atrial appendage is
not present (as opposed to mitral stenosis).
Echocardiography
Echocardiography gives the diagnosis. The interatrial
membrane is well delineated. The real time echocardiogram
reveals its systolic and diastolic movements. Left atrium is
visualized well in subcostal view. The mitral valve is normal
in contrast to supra-mitral valvular ring where the mitral
valve is deformed. Color flow imaging demonstrates flow
through the interatrial membrane orifice in LA
(Fig. 7.5). The presence of left atrial appendage in distal
chamber and pulmonary veins draining to proximal chamber
are well visualized. Transesophageal echocardiography also
clearly demonstrates these above anatomical findings.
Magnetic resonance imaging helps to delineate these defects,
particularly the pulmonary veins and its course.
Catheterization and Angiocardiography
It was the gold standard for diagnosis before the echo era.
However, in certain cases before subjecting the patient for
surgery it is mandatory. Oxymetry helps to rule out shunt
lesions. RA, RV and pulmonary artery wedge pressures
are increased. If LA pressure in the distal chamber is less
than pulmonary artery wedge pressure; then pulmonary
venous stenosis or cor triatriatum is diagnosed. Selective
pulmonary artery angiography in venous phase delineates
the anomaly.
Diagnosis
It is difficult to diagnose clinically cor triatriatum. Clinical
features of pulmonary arterial hypertension like loud P2,
pulmonary ejection click (no opening snap), with variable
murmurs such as mid-diastolic murmur or less frequently
ejection systolic murmur over apex with TR murmur arose
the suspicion of cor triatriatum. Roentgenographic evidence
of pulmonary venous hypertension is also present. It is 2D
echocardiogram with Doppler, which confirms the diagnosis
by delineating a membrane having a small hole like
communication; dividing left atrium into two chambers.
 58 Clinical Diagnosis of Congenital Heart Disease

Figs 7.5A and B: (A) 2 D Echocardiography showing membrane in LA dividing it into proximal (PC) and distal
chamber (DC), (B) Colour Doppler shows turbulence across the membrane (RA—right atrium, LV—left ventricle,
RV—right ventricle)

Differential Diagnosis
The following conditions come under differential diagnosis
because of similarity in their clinical findings:
1. Rheumatic mitral stenosis
2. Left atrial tumor (myxoma)
3. Left atrial thrombus.
There are some subtle differences in clinical findings,
they are 1-history of rheumatic fever, typical mid-diastolic
rumbling murmur with opening snap for rheumatic MS, 2-
constitutional symptoms with tumor plop and changing
character of diastolic murmur for LA myxoma and 3-history
of embolic episodes like repeated transient ischemic attacks
for LA thrombus. It is echocardiogram with color Doppler
mapping that clearly differentiate these conditions.

CONGENITAL PULMONARY VEIN STENOSIS

When there is a focal narrowing of one or more of pulmonary
veins near its insertion to left atrium the clinical condition is
known as pulmonary vein stenosis (Fig. 7.6). It may be
localized, confined close to the junction with LA or there
may be diffuse narrowing (hypoplasia) involving the
pulmonary veins in its extra pulmonary course. Rarely
pulmonary veins may be atretic. Pulmonary venoocclusive
disease is a different entity which is characterized by
presence of obstructive changes in pulmonary venules.
Clinical Features
The clinical manifestations of congenital pulmonary vein
stenosis resemble that of congenital mitral stenosis or cor
Fig. 7.6: Schematic diagram showing congenital pulmonary
vein stenosis, arrows indicate stenosis of individual pulmonary
veins near its entrance to left atrium (LA) (RA—right atrium,
RV—right ventricle, Ao—aorta, PA—pulmonary artery)
triatriatum with some subtle differences. Infants having
congenital pulmonary vein stenosis may present with history
of repeated respiratory tract infection, diaphoresis,
tachypnea and persistent tachycardia which sometimes lead
to congestive heart failure. Cyanosis is uncommon, but
may be present due to low cardiac output. Repeated
hemoptysis is a usual feature. On auscultation second heart
 Left Ventricular Inflow Obstruction
sound (P2) is loud and pulmonary ejection click is present.
No murmur is usually audible; hardly ejection systolic
murmur 1-2/6 (due to pulmonary hypertension) is present
over upper sternal border. Tricuspid regurgitation murmur
is rare, if audible indicates severe pulmonary hypertension.
Investigations
Electrocardiogram shows sinus rhythm, right atrial
enlargement and right axis deviation. Left atrial enlargement
is categorically absent. Radiological features show cardio-
megaly with evidence of right atrial and right ventricular
enlargement with no evidence of LA enlargement. MPA is
prominent. Diffuse venous congestion (reticular marking
pattern) is noted, indicating pulmonary venous obstruction.
Lung scan by radioisotope shows marked ventilation
perfusion mismatch in cases of unilateral pulmonary vein
stenosis. Echocardiography in subcostal and apical view
delineates clearly pulmonary venous insertions to LA.
Discrete narrowing before insertion is also visualized. Color
Doppler shows turbulent flow pattern in the stenotic region.
Echocardiogram is of diagnostic importance in
eliminating CMS or cor triatriatum and focusing on
pulmonary veins per se as the cause of obstruction to
left ventricular inflow. Angiogram reveals clearly the
constricted pulmonary veins at left atrial junction or just
above it. CT/MRI pulmonary venous angio by non-invasive
methods clearly demonstrates stenosis, if present.
Guidelines for Management
Medical management of infants and children with left
ventricular inflow obstruction include conventional therapy
for cardiac failure and attention to common complications
such as pulmonary infection, endocarditis and atrial
fibrillation with embolization if present. When cardiac failure
is not responsive to medical management or pulmonary
hypertension supervenes, surgical intervention is necessary.
The surgical relief of obstruction is the definitive treat-
ment. Sometimes performed on emergency basis if
obstruction is severe. Balloon valvuloplasty for congenital
mitral stenosis has also been tried with limited success.
Infants with symptomatic congenital mitral stenosis remain
59
a therapeutic challenge. In congenital mitral stenosis use of
prosthetic valve in infants and children have been
disappointing. Therefore attempts is made to repair the valve.
The prognosis is very poor because this condition is poorly
responsive to medical, trans-catheter or surgical manage-
ments. In isolated supramitral rings and cor triatriatum, long-
term prognosis after surgery is good. Percutaneous
angioplasty with or without stenting is performed in some
centers, whereas balloon dilatation of stenosed pulmonary
veins is only of temporary relief. Surgery is done, but the
result is not gratifying.
SALIENT FEATURES
1. LVIO are a group of disorders producing congenital
obstruction to LV inflow, which give rise to pulmonary
hypertension without a shunt lesion. The main lesions
are congenital mitral stenosis (CMS), parachute mitral
valve, supra-valvular membrane, cor triatriatum and
pulmonary vein stenosis.
2. Some infants are very symptomatic from infancy
whereas some escape and remain asymptomatic till
adulthood depending upon severity of obstruction.
Pulmonary venous hypertension and consequentially
pulmonary arterial hypertension are the chief
determinants of hemodynamics and clinical features.
3. Prominent ‘a’ in JVP, RV type precordial impulse, loud
P2 and pulmonary ejection click are the main clinical
findings.
4. In cor triatriatum a membranous diaphragm divides the
LA into two chambers with a communication of variable
size. Proximal chamber accepting pulmonary veins and
distal chamber communicates with MV which contains
the LA appendage and the fossa ovalis.
5. The peculiarity of cor triatriatum is that in some cases
no murmur, in some cases ESM, in some cases MDM
over apex and in some cases continuous murmur are
audible. No MR murmur is present.
6. Echocardiography distinguishes each lesion by
delineating their characteristic findings.
7. Angiography in pulmonary venous stenosis is
mandatory to delineate the defects clearly. Radio-
isotope studies shows marked ventilation-perfusion
mismatch in unilateral pulmonary vein stenosis.
8. Besides nonspecific medical management, surgery is
the definitive answer.
 8 Mitral Valve Prolapse
PC Manoria, SK Trivedi

THE AGONY OF A PATIENT
“I’m only 20-years-old. I keep getting chest discomfort,
palpitations and breathing difficulty off and on.
Could I be having a heart attack every time?”
“Every doctor assures that I am fine—That there is nothing
to worry!!”
“I am rushed to the hospital at odd hours and from one
hospital to another and finally back home.”
“I was beginning to believe that I had gone bonkers—that
I was mad—that it was all in my head.”
“I feel like an ass—as no one in the hospital takes me
seriously and I continue to suffer.”
prolapse. In 1966 Crileg coined the term mitral valve
prolapse (MVP).
INCIDENCE
MVP has been found to be the most common valvular
cardiac anomaly in developed countries. Hospital based
studies, some with flexible criteria for diagnosis put the
prevalence of MVP between 5 to 35 percent. Another study
shows the incidence of clinically significant MVP is between
3 to 8 percent. Genetically, it belongs to heterogeneous
groups. Prevalence rate increases as age increases. Female
suffer more than male with 2:1 ratio.

SYNONYMS
There are more than a dozen synonyms among which the
popular ones are floppy mitral valve syndrome, Barlow
syndrome, Reid syndrome, systolic click syndrome and
daCosta syndrome.

DEFINITION
Mitral valve prolapse (MVP) is defined as the systolic
billowing of one or both mitral leaflets into the left atrium,
with or without mitral regurgitation (Fig. 8.1).

HISTORY
Griffith first described mitral incompetence in late systole
in 1882, which was subsequently known as prolapse of
mitral valve. Mackenzie named this anomaly as Soldier heart
or Irritable heart during the period of World War I in 1916.
In 1963 Barlow and colleagues used cine angiography to
identify and prove conclusively the cause for mitral valve
Fig. 8.1: Schematic diagram showing mitral valve prolapse.
Arrows show billowing of both leaflets of mitral valve to left
atrium (LA) in systole, Elongated chordae are seen attached
to the leaflets from the papillary muscles (Ao—aorta, LV—left
ventricle)
 Mitral Valve Prolapse 61

ABNORMAL ANATOMY 1. MVP with no MR

Mitral valve prolapse may occur due either to structural or
functional abnormalities of any component of the mitral
apparatus. Primary MVP is characterized by the myxo-
matous degeneration with an increased amount of leaflet
tissue and proliferation of the spongiosa layer. The charac-
teristics histological finding is collagen fibers are replaced
by myxomatous tissue. Electron microscopic picture of
the affected valve leaflets shows a haphazard arrangement,
disruption and fragmentation of collagen fibrils. Degene-
ration of collagen within the central core of the chordae
tendinae may lead to chordal elongation or rupture. The
pathogenesis of MVP is not well understood. It appears
multifactorial and related to autonomic dysfunction.
Secondary MVP shows no myxomatous changes.
CLASSIFICATION
Anatomical
The mitral valve anatomy with its apparatus is well depicted
by echocardiography.
Echocardiographically MVP is classified as classic
prolapse if the mitral leaflet displacement exceeds
2 mm (Fig. 8.4) and maximal thickness of the valve during
diastole is at least 5 mm (Fig. 8.5). If displacement of mitral
valve leaflets exceeds 2 mm but the maximal thickness of
leaflets during diastole is less than 5 mm, it is known as
non classic prolapse.
Etiological
Primary Secondary
Familial Atrial septal defect
Non-familial Ischemic heart disease
Marfan syndrome Straight back syndrome
Ehlers-Danlos syndrome Rheumatic heart disease
Other connective tissue disease Flail mitral valve leaflet(s)
Pulmonary hypertension
Hypertrophic
cardiomyopathy
Clinical
Mitral valve prolapse is classified clinically into four groups
as per severity of the lesion.
2. MVP with mild MR
3. MVP with moderate MR
4. MVP with severe MR.
As age advances severity of the MVP in most of the
cases progresses. Patients having LV enlargement, mitral
regurgitation and thick mitral valve in echocardiogram belong
to group four (high-risk group).
HEMODYNAMICS
The hemodynamic changes mainly depend upon the severity
of the lesion. In mild to moderate cases usually the hemo-
dynamic parameters are within normal limits. Increased
papillary muscle tension give rise to mitral regurgitation of
various severities. With severe mitral regurgitation, enlarge-
ment of LA and LV occur. As MVP progresses cardiac
output is decreased and large v-wave in LA and pulmonary
venous wedge (PVW) are seen. Left ventricular and left
atrial diastolic pressures are increased in late stages.
CLINICAL FEATURES
On general examination in some cases the obvious findings
are scoliosis, pectus excavatum, straightened thoracic spine
and narrowed anteroposterior diameter of the chest. Some
patients with MVP have arachnodactyly, which is more
typical of Marfan syndrome.
Symptoms
The chest pain associated with MVP presents itself in many
ways. The pain may be brief in duration, or it may persist
for hours. Patients describe the pain as sharp, heavy, shoot-
ing, sticking or as a pressure on the chest. At times it can
be incapacitating and occurs repeatedly. Sometimes,
however, the pain mimics anginal type. Particularly in
children the pain is not exertional, it is felt during rest.
Fatigue is a constant feature; it may be episodic and severe.
Usually fatigue begets more fatigue. The cause of the fatigue
may relate to blood volume changes associated with exercise
or to a high resting heart rate. Palpitation and extra
heartbeats are main complaints in all age groups. Patients
describe palpitations as a pounding sensation in their chest.
Others feel it as a flip-flop or fluttering sensation. Arrhy-
thmias present as extra beats (atrial or ventricular) and can
cause palpitations. Skipped or extra beats are very common.
 62 Clinical Diagnosis of Congenital Heart Disease
Sometimes they occur following the use of caffeine, alcohol,
tobacco, or certain medications. Other times, emotional
stress may cause extra beats. In any case, these beats are
relatively common, but should not be a cause for alarm.
Light-headedness, dizziness, or both can occur when a
patient quickly stands up from supine position. This feeling
is usually associated with a sensation of a forceful heartbeat
or palpitations. These symptoms may be related to
decreased intra vascular volume and metabolic
neuroendocrine abnormalities. Shortness of breath is a
common symptom described as the inability to take in a
deep breath. It may occur at rest or with activity and may
not be related to cardiac, or pulmonary abnormalities.
Headaches sometimes occur in the form of migraine and
are accompanied by nausea and blurred vision. Some people
describe their headache as nagging or dull. Many patients
with MVP suffer from anxiety or panic attacks although
the relationship is not clear. The symptoms described by
many patients are consistent with panic disorder. People
have recurrent, spontaneous anxiety attacks that consist
of various combinations of symptoms. These symptoms
include: fatigue, fainting, dizziness, chest pain, light-
headedness, rapid heartbeat, palpitations and shortness of
breath. Other uncommon symptoms are chronically cold
hands and feet, gastrointestinal disturbances, problems with
memory or a feeling of fogginess, inability to concentrate,
mood swings, insomnia, numbness or tingling of the arms
or legs, generalized body ache and difficulty in swallowing
as if there is a lump in the throat.
Symptoms tend to be more intense during emotional
stress, when patients are over tired, after unaccustomed
activities and in case of female patients, during menopause,
or during menstruation.
Note: It is not unusual for the symptoms to disappear
spontaneously for months, even years and then may reappear
again.
Signs
The pulse is normally felt with normal pulse pressure. JVP
is normal. On auscultation first heart sound is normal,
second heart sound is normally split but the principal finding
is mid systolic click. It may be soft or loud, and varies in
its timing according to left ventricular loading and
contractility. It is caused by the sudden tensing of the mitral
valve apparatus as the leaflets billow into the left atrium
during systole. Multiple systolic clicks may be generated
by different portions of the mitral leaflets, prolapsing at
different times, during systole. Dynamic auscultation helps
in differentiating MVP from other disorders.
Dynamic Auscultation
In general, any maneuver that decreases the end-diastolic
LV volume, increases the rate of ventricular contraction or
decreases resistance to the ejection of blood from LV causes
MVP to occur earlier in systole thereby the systolic click
and murmur move towards the first heart sound. In contrast,
any maneuver that augments after load lengthens the time
from the onset of systole to the initiation of MVP. Accor-
dingly, the systolic click, the murmur, or both move toward
the second heart sound. The mid systolic murmur 2-3/6 is
present over apex, is not conducted to axilla.
The following maneuvers are done at bedside to elicit
the dynamic nature of the click and murmur.
1. In the sitting or standing position from supine, the click
may appear earlier and the murmur may be more
prominent. The systolic click moves towards S1 on
standing, often merging with S1 (Fig. 8.2). If marked
postural tachycardia occurs, new clicks may appear
and the murmur becomes longer and often louder like
holosystolic murmur. Occasionally, the murmur is
present only in the upright posture.
Fig. 8.2: Schematic diagram showing relations of mid-
systolic click and murmur to dynamic maneuvers
 Mitral Valve Prolapse
2. When squatting from standing position, the click and
murmur may move back to late systole (the murmur
become shorter). While the patient stands from squatting
position, continuous auscultation reveals the click and
murmur moving back to early systole thereby murmur
becomes longer and louder (on a beat-to-beat basis as
the heart rate accelerates).
3. Occasionally, a systolic precordial honk or whooping
sound may be heard with the murmur, only during
change of posture (sitting to standing or vise versa)
and that too limited to a few beats immediately after
standing.
Note: Other cardiac causes having non-ejection click are:
1. Ebstein’s anomaly
2. Atrial myxoma
3. Restrictive cardiomyopathy
4. Ventricular aneurysm
5. Aortic regurgitation
6. Complete heart block.
MVP SYNDROME
In a group of patients of MVP when their symptoms and
signs cannot be explained by mitral valve abnormalities alone,
other possible causes of neuroendocrine or autonomic
dysfunction are ascribed. This group of patients belong to
MVP syndrome.
INVESTIGATIONS
Electrocardiography
The electrocardiogram is often normal in patients with MVP.
The most common abnormally is the presence of ST
depression or T-wave inversion in the inferior leads (II, III
and aVF) (Fig. 8.3). MVP is associated with an increased
incidence of false-positive results on exercise electro-
Fig. 8.3: ECG of a case of MVP showing non-specific ST, T changes in II, III, aVF and chest leads
63
cardiography, with ST segment depression occurring in
patients, especially women, with normal coronary arteries.
Although arrhythmias may be noted on the resting
electrocardiogram or during treadmill exercise, they are
more reliably detected by continuous ambulatory
electrocardiographic recordings (holter monitoring).
Ventricular arrhythmia may be due to papillary muscle
dysfunction or ‘Q-T’ prolongation or abnormal innervation
of floppy mitral valve. Electrophysiologic studies detect
the accessory pathways in cases of supraventricular
arrhythmias. Left atrial enlargement and left ventricular
hypertrophy of volume overload pattern are seen depending
on severity of mitral regurgitation.
Radiography
Chest X-ray is usually unremarkable unless there is signifi-
cant mitral regurgitation. If cardiomegaly with LV contour,
LA enlargement and evidence of increased pulmonary
venous hypertension present it indicate severe mitral
regurgitation.
Echocardiography
Initially when M-mode echocardiography was in routine
use the MVP was also diagnosed with certainty, as
evidenced by pansystolic posterior prolapse of one mitral
leaflet (hammock configuration) in C-D segment of mitral
valve tracing. Two-Dimensional and Doppler echocardio-
graphy is the most useful non-invasive test for diagnosing
MVP. Echocardiographic (by parasternal long axis view)
definition of MVP includes posterior displacement of one
or both leaflets, 2 mm or more towards the left atrium
during late systole and at least 5 mm thickening of the leaflets
during diastole (Fig. 8.5). Because echocardiography is a
tomographic cross-sectional technique and mitral valve
annulus is saddle shaped, it should be confirmed in multiple
 64 Clinical Diagnosis of Congenital Heart Disease

Figs 8.4A and B: Schematic representation of M-mode echocardiographic pattern of MVP. Arrow shows: (A) Pansystolic
prolapse of both mitral leaflets, (B) Mid-systolic prolapse of posterior leaflet of mitral valve (AML—anterior mitral leaflet,
PML—posterior mitral leaflet)

Fig. 8.5: 2-D echocardiography of MVP, on the left panel arrows show systolic prolapse of both mitral leaflets to
left atrium (LA), right panel shows thickening of the leaflets in diastole (LV—left ventricle)

views. A single view cannot be considered diagnostic.
Particularly prolapse demonstrated in long axis view is more
accurate than that demonstrated in four chamber view
because mild prolapse of either leaflets can be seen in four
chamber view in normal valves. Patients with echocardio-
graphic evidence of MVP but no evidence of thickened or
redundant leaflets or definite mitral regurgitation are more
difficult to classify under MVP. If such patients have clinical
and auscultatory findings of MVP echocardiography usually
confirms the diagnosis. Of late introduction of 3-dimentional
echocardiography is more informative as regards structural
and functional aspect of MVP.
The timing of prolapse can be determined by echocardio-
graphy whether late systolic or holosystolic. The other
important use of echo is to assess LA and LV size and
function. Doppler and color flow mode is used to assess
the severity of MR, the jet direction and magnitude of regur-
gitant fraction. Color M mode is used to time the onset and
duration of MR whether late systolic, early systolic or
holosystolic.
Cardiac Catheterization and Angiography
Cardiac catheterization has been completely replaced by
echocardiography. Angiography is indicated when asso-
ciated coronary artery disease is suspected. Once angio-
graphy is done left ventricular angiogram is also performed
to delineate the prolapse of valves and degree of MR if
present.
 Mitral Valve Prolapse
COMPLICATIONS
The risk of complications is highest in male, patients older
then 45 years, patients with familial MVP, and patients with
a holosystolic murmur or with left-sided chamber
enlargement. Echocardiographic predictors of increased
complications have also been found. They are significant
mitral regurgitation, leaflet thickening, and leaflet
redundancy. Accordingly patients are divided into two
groups: (i) low risk patients, and (ii) high risk patients. The
complications are:
Infective Endocarditis
The risk of developing infective endocarditis is highest in
elderly men and patients with a murmur or those with
redundant and thickened valve leaflets. Endocarditis in these
patients is associated with considerable morbidity and
mortality.
Cerebrovascular Events
MVP is one of the causes of cerebral stroke or transient
ischemic attack (TIA) in young patients.
Mitral Regurgitation (Acute)
Progressive myxomatous degeneration with an increasing
degree of prolapse may produce chordal rupture and acute
MR, which need immediate medical care and surgery.
Arrhythmias
Patients with MVP and mitral regurgitation have a higher
prevalence of ventricular arrhythmias, including ventricular
tachycardia besides supraventricular arrhythmia.
Sudden Cardiac Death
Sudden cardiac death is a rare complication of MVP, with
an estimated incidence of 0.1 to 0.4 percent per year.
DIAGNOSIS
The diagnosis of MVP is simple. It is based upon symptoms
and clinical evidence of mid systolic click and late systolic
murmur, which display changes with dynamic auscultation.
The murmur become shorter on suatting and becomes
longer and well audible on standing. Echocardiography
(M-mode, 2D and Doppler) confirms the diagnosis with
severity of the lesion.
65
DIFFERENTIAL DIAGNOSIS
The following clinical conditions come under differential
diagnosis.
1. Mild pulmonary stenosis
2. Mild aortic stenosis
3. Straight back syndrome.
Mid-systolic murmur of MVP should be differentiated
from the click and murmur of pulmonic and aortic stenosis.
In both these conditions the click occurs much earlier and
closer to first sound and the murmur is an ejection systolic
murmur, which is harsh, more than grade 3/6 and they do
not change with dynamic maneuvers. Straight-back syn-
drome also comes as a differential diagnosis but easily
differentiated because of presence of skeletal deformity
(loss of thoracic kyphosis on lateral view of X-ray chest)
and by constant click (not dynamic in nature as in MVP)
and a short ejection systolic murmur grade 1-3/6 over left
sternal border.
NATURAL HISTORY
MVP has a benign course and excellent prognosis for most
patients, with a survival rate similar to that in an age and
sex matched population without MVP. A minority of patients
especially beyond their fourth decade and those with familial
disorder has increased chances of developing infective
endocarditis and significant mitral regurgitation. Surgery in
recent years has changed the outlook. Morbidity has become
less in severe cases of MVP by repair or replacement of
mitral valve.
GUIDELINES FOR MANAGEMENT
In a setting of MVP the management is completely indivi-
dualized. Patients having anxiety, nervousness and palpitation
need more of psychological reassurance then any drug
therapy. When associated with arrhythmias (supraventricular
or ventricular), beta-blockers are drug of choice. It
decreases heart rate and ventricular irritability. These patients
are advised to abstain from caffeine, smoking, alcohol and
drugs containing sympathomimetic agents. When cerebral
symptoms appear anti-thrombotic agents are used. In
supraventricular arrhythmias, if there is no response to anti
arrhythmic drugs, radiofrequency ablation is advised.
Patients of MVP become very ill when rupture of
chordae tendinae or infective endocarditis occurs. These
patients of infective endocarditis should be treated with
 66 Clinical Diagnosis of Congenital Heart Disease
suitable antibiotic under proper medical advice. Surgery
(reconstructive surgery or valve replacement) is advised
when patient develop moderate to severe MR or becomes
symptomatic due to rupture of chordae tendinae.
SALIENT FEATURES
1. When systolic prolapse of one or both mitral valve
leaflets occur into LA it is known as mitral valve prolapse
(MVP). It may be associated with mitral regurgitation.
2. The main pathological change in the mitral valve is that
collagen fibres are replaced by myxomatous tissue.
3. MVP presents with varieties of symptoms mainly with
palpitation and different types of chest pain.
4. Prominent mid-systolic click and a mitral regurgitation
murmur which changes on dynamic auscultation are
the hallmarks of diagnosis of MVP. On standing duration
of MR murmur is increased and on squatting it
decreases.
5. Posterior displacement of mitral leaflet more than 2 mm
and valve thickening more than 5 mm are taken as
echocardiographic criteria to diagnose MVP.
6. MVP is important for its serious complications like
infective endocarditis, arrhythmias and cerebrovascular
accidents.
7. Medical management is mainly symptomatic and beta-
blockers are very often used. In severe MR reconstruc-
tive surgery or valve replacement is advised.
 9 Congenital Mitral Regurgitation
INTRODUCTION
Congenital mitral regurgitation (MR) develops due to
congenital abnormalities of any components of mitral valve
apparatus. Isolated congenital mitral regurgitation is a rare
condition. It is commonly associated with other cardiac
lesions like endocardial cushion defects, single atrium,
septum primum defect and less commonly with primary
myocardial disease, endocardial fibroelastosis, congenitally
corrected TGA, anomalous left coronary artery from
pulmonary artery (ALCAPA), coarctation of aorta and
Marfan’s syndrome. Mitral regurgitation due to mitral valve
prolapse (MVP) is discussed separately. One of the earliest
descriptions of isolated congenital mitral regurgitation is
by Semans and Taussig in 1938.
ABNORMAL ANATOMY
Mitral regurgitation is mainly due to defect of leaflets,
annulus and sub-valvular apparatus. The sub-valvular
causes are chordal retraction, chordal elongation or papillary
muscle dysfunction. Isolated cleft mitral valve is also
responsible for MR. In neonates and infants myocardial
ischaemia causing papillary muscle dysfunction and
infarction give rise to MR. The main pathological features
responsible are, insufficient valvular tissue and defective
apposition of leaflets. When the free edges of dysplastic
mitral valve leaflets are thickened and rolled, the valve is
more incompetent than stenosis. Congenital mitral stenosis
is due to commissural fusion of dysplastic valve. In conge-
nitally corrected TGA, the left sided AV valve is anato-
mically tricuspid valve which often gives rise to regur-
gitation, due to leaflet abnormality. This is known as left
sided Ebstein’s anomaly.
M Satpathy
CLINICAL FEATURES
Symptoms depend on the severity of MR and associated
cardiac lesions. Some infants with severe MR become
symptomatic from very infancy with tachypnea, tachy-
cardia, repeated respiratory infection and excessive
diaphoresis and feeding difficulties indicating congestive
heart failure. These infants struggle to thrive in spite of
decongestive therapy, where as some infants from beginning
remain relatively asymptomatic and attain childhood with
normal growth. Subsequently during adulthood they develop
dyspnea, fatigue and palpitation on moderate exertion and
their physical activities are restricted.
On general examination extremities are cool, precordium
is pulsatile and apical impulses is localized. Mean JVP is
raised indicating presence of congestive heart failure.
On auscultation first heart sound is decreased or normal,
second heart sound is closely split with loud P2 component,
LV S3 is present and a soft pansystolic murmur grade 3-4/
6 (due to pressure gradient between LV and LA through
out the systole) is audible over apex and conducted to axilla.
Sometimes the MR murmur is selectively conducted to left
parasternal border.
INVESTIGATIONS
Electrocardiography
Electrocardiogram shows left atrial enlargement and left
ventricular hypertrophy of volume overload pattern with
narrow and deep ‘q’ wave and upright T waves in lateral
leads (Fig. 9.1). If left axis deviation is present, these may
be associated with complete AV canal defect. Anterolateral
wall myocardial infarction pattern, indicates associated
ALCAPA and severe LVH indicates associated primary
endocardial fibroelastosis.
 68 Clinical Diagnosis of Congenital Heart Disease

Fig. 9.1: ECG of severe congenital MR showing, LA enlargement, LV hypertrophy

with narrow and deep q in I,aVL and V6

Radiography
Radiological features are cardiomegaly with LV contour
and left atrial enlargement (elevated left main stem bronchus
and double right heart border) (Fig. 9.2). Kerley B-lines are
usually present indicating pulmonary venous hypertension.
If ascending aorta is seen on left upper cardiac border and
the patient is having MR murmur, it indicates congenitally
corrected transposition of great arteries.

Echocardiography
Echocardiogram shows left atrial and left ventricular
enlargement. 2D echo in different views, mainly parasternal
long axis, apical and subcostal four chamber views clearly
delineate abnormal mitral valve anatomy and associated other
cardiac lesions if any. Degree of MR (trivial, mild, moderate
or severe) is assessed by color Doppler flow mapping (by
jet area and ratio of jet area to LA area) (Fig. 9.3).
Transesophageal echocardiography and epicardial
echocardiography are used routinely in making decision
during surgical repair of mitral valve. Etiological causes of
MR like rheumatic or non-rheumatic or congenital can be
ascertained by echocardiography.
Magnetic Resonance Imaging
MRI is gradually gaining popularity in the diagnosis of
congenital heart lesions. The degree of MR and mitral valve
structure can be assessed with high degree of accuracy.
Cardiac Catheterization
Cardiac Catheterization is mainly indicated to know
associated cardiac anomalies if present and coronary artery
Fig. 9.2: X-ray chest of severe congenital MR showing
cardiomegaly with LV contour and LA enlargement
anatomy, if ALCAPA is suspected. The hallmark of MR is
raised left atrial v-wave or raised ‘v’ wave in pulmonary
capillary wedge pressure. LV angiography reveals the
severity of MR (1+ to 4+ according to opacification of LA
after the dye is injected to LV). 1+ indicates faint jet
opacification which does not opacify the LA and clears
with each beat, 2+ faint opacification of whole of LA, 3+
LA and LV opacification are same and 4+ indicate LA is
more densely opacified than LV.
DIAGNOSIS
Infants or toddlers with history of failure to thrive and on
examination no cyanosis, cardiomegaly, LV type apex, loud
S3, with pansystolic murmur over apex, give clinically the
impression of congenital MR. CHF is common when MR
is severe. ECG shows left atrial enlargement and left
ventricular hypertrophy. X-ray shows cardiomegaly with
 Congenital Mitral Regurgitation
Figs 9.3A and B: Echocardiogram of severe congenital MR, (A) 2-D echo showing a thick echogenic single papillary muscle
in 4-chamber (left panel) and long axis (right panel) view. (B) CW Doppler showing severe MR
LV contour, LA enlargement and pulmonary venous
hypertension. Echocardiography with color Doppler imaging
gives the diagnosis and determines the etiological causes
of MR.
DIFFERENTIAL DIAGNOSIS
Cardiac anomalies having MR as a prominent finding in
infants and younger children come under differential
diagnosis. They are:
1. AV canal defect, complete or partial (cleft mitral valve
with or without ostium primum type of ASD)
2. Mitral valve prolapse
3. ALCAPA
4. Primary myocardial disease (myocarditis, dilated or
hypertrophic cardiomyopathy).
When mitral regurgitation is associated with
features of ASD and ECG shows left axis deviation.
AV canal defect is strongly suspected.
Mitral valve prolapse is associated with varying degrees
of MR. Palpitation and nonspecific chest pain is common
complaints. Signs and symptoms usually occur in adoles-
cents and adults (rare in infants or pediatric age group).
Non-ejection click and mid systolic or late systolic murmur
changing with dynamic auscultation, easily differentiate this
condition from other causes of MR.
69
ALCAPA is differentiated by ECG evidence of myo-
cardial infarction pattern. Primary myocardial disease is
mainly differentiated by echocardiography.
Prognosis
Prognosis depends upon severity of MR. When congestive
heart failure develops from infancy even with adequate
treatment life expectancy is short. When patient remains
asymptomatic prognosis is better. Advancement in surgery
(mitral valve repair or replacement) has changed the whole
scenario even, if it is associated with other congenital
anomalies.
GUIDELINE FOR MANAGEMENT
Management depends on severity of mitral regurgitation.
Patients of mild to moderate lesion mainly remain on medical
advice with infective endocarditis prophylaxis. Diuretic and
angiotensin-converting enzyme (ACE) inhibitors are main
drugs used to keep LV function within normal limits. Digoxin
is added when there is congestive heart failure. Anti
arrhythmic drugs are given if there is rhythm problem (AF,
PSVT or frequent VPC) and anti coagulant are used if there
is chronic AF or when LA thrombus is present. Sympto-
matic patients with significant MR are advised for surgery.
Early elective surgery is done depending of LV dimension
to prevent postoperative LV dysfunction.
 70 Clinical Diagnosis of Congenital Heart Disease

The time and type of surgery depend on age and status

of mitral valve apparatus. In some cases mitral annuloplasty
(or modified annuloplasty) or valvuloplasty and in some
cases mitral valve replacements (mechanical or bio-
prosthetic) are advised.
SALIENT FEATURES
1. Mitral regurgitation, which occurs due to congenital
abnormalities of any component of mitral valve
apparatus, is known as congenital mitral regurgitation.
2. Isolated congenital MR is rare, where as MR when
associated with other congenital anomalies is not
uncommon in clinical practice.
3. When the infant is symptomatic and signs of CHF is
present with a long systolic murmur, congenital MR is a
possibility.
4. 2-D Echocardiogram with Doppler confirms MR with its
severity, assesses LV function and determines its
etiology.
5. Medical management includes conventional
decongestive therapy when CHF is present besides
routine vasodilator therapy for MR.
6. Elective surgery is advised depending on the clinical
condition, LV dimension and age of the patient.
Reconstructive surgery or valve replacement is usual
surgical mode of treatment.
 10 Primary Endocardial Fibroelastosis
INTRODUCTION
In this anomaly the disease process starts from utero and
manifested in neonates or infants primarily involving
endocardial layer of left ventricle without any associated
congenital anomaly. When associated with other congenital
anomalies, it is known as secondary endocardial fibro-
elastosis. The term primary endocardial fibroelastosis (EFE)
was introduced by Weinberg and Himmelfarb in 1943.
Previously it was described as a form of dilated cardio-
myopathy under primary myocardial disease, but recently
WHO has not included primary endocardial fibroelastosis
as a form of cardiomyopathy.
INCIDENCE
It is a rare disease. Incidence is higher with associated
congenital heart diseases (secondary EFE). Sex incidence
is equal. In some series female predominance is mentioned.
Familial occurrence has been noticed. It occurs in infants
with increased birth order.
CLASSIFICATION
1. Primary endocardial fibroelastosis, Edward classified
primary EFE into two types in 1954.
a. Dilated type: It is again divided into two subtypes:
I. Fulminating type that leads to acute congestive
heart failure (CHF)
II. Chronic type that Leads to chronic CHF.
b. Contracted (restricted) type.
2. Secondary endocardial fibroelastosis: It occurs due to
associated congenital cardiac lesions like aortic stenosis,
aortic atresia, coarctation of aorta, hypoplastic left heart
syndrome, congenital mitral stenosis, pulmonary atresia
and PDA.
M Satpathy
The present chapter deals with primary type of
endocardial fibroelastosis.
ETIOLOGY
Etiology is not exactly known, however intrauterine infection
causing myocarditis by Coxsackie-B and mumps virus has
been implicated (previously known as fetal endocarditis).
Other etiological factors thought to be responsible are SS-
A (soluble tissue ribonucleoprotein antigen), placental toxins
and some antibiotics. Autosomal recessive and X-linked
recessive disorders may play some role.
PATHOLOGY
The main pathology lies in endocardial layer of left ventricle.
It is thickened two to three times more than normal
and appears as homogeneous, pearly white, glistening
sometimes with milky appearance. The thickening is due
to the proliferation of collagen and elastic tissue. There is
marked LA and LV hypertrophy with dilatation. LV assumes
a globular shape. There occurs extensive deposition of extra
cellular matrix, collagen and elastic fibres in the
endocardium. Hyper-vascularization (increased capillary
to myocardial fibres) is an important histopathological
feature. It gives rise to endocardial scarring. Mitral
regurgitation commonly occurs in the dilated type, due to
structural and functional abnormality of papillary muscles
and involvement of mitral leaflets. Rarely left atrium and
very rarely right ventricle are involved in this pathological
process. In the contracted type LV is small and LV
endocardial fibroelastosis is present. Involvement of aortic
valves is not uncommon. Similar changes occur in secondary
EFE, but they are more often patchy.
 72 Clinical Diagnosis of Congenital Heart Disease
HEMODYNAMICS
Endocardial thickening gives rise to decrease LV compliance,
impaired diastolic function and also global hypokinesia.
Cardiac output and stroke volume usually remain within
normal limit. Impaired LV systolic and diastolic function
leads to increased LV filling pressure (LA pressure) so
pulmonary venous pressure is increased giving rise to pulmo-
nary arterial hypertension. Although contracted type is rare,
when present gives rise to severe pulmonary hypertension.
Mitral regurgitation contributes to LV dilatation. Pulmonary
hypertension increases RV pressure load ultimately giving
rise to congestive heart failure. In fetal life hydrops fetalis
may develop when EFE is present.
CLINICAL FEATURES
Symptoms
Infants suffering from EFE present mainly in three clinical
patterns.
1. Fulminating type: The infants are very symptomatic.
Symptoms of CHF like cough irritability diaphoresis and
feeding difficulties are usually present. Many infants
develop resistance type of congestive heart failure.
Severe congestive heart failure develops within first six
weeks of life.
2. Acute type: These infants develop congestive heart
failure in infancy but less severe then fulminating type.
3. Chronic type: In chronic type there is gradual onset of
congestive heart failure. Dyspnea and failure to thrive
are the major symptoms.
SIGNS
On general examination, the infant is usually acyanotic
(when severely dyspneic, cyanosis may appear), pulse is
of normal volume, tachycardia is present and JVP is raised
with wave patterns difficult to appreciate. On palpation apex
is LV type but feeble (because of poor contractility), RV
apex with parasternal heave may be found in the contracted
type (due to PAH). Hepatomegaly may be present. On
auscultation first heart sound is diminished, second heart
sound is closely split and P2 component is loud (due to
increased PA pressure). A loud third heart sound (S3) is
present all over precordium. Poor LV contractility makes
the murmur feeble therefore no murmur is audible in most
of the cases, only in a few cases significant MR murmur is
present.
INVESTIGATIONS
Electrocardiography
Sinus rhythm, normal QRS axis (sometimes left axis), bifid
P in II and V1 indicating left atrial enlargement are present.
Left ventricular hypertrophy (LVH, qR in V5, V6) with strain
pattern is the pathognomic feature of dilated type of EFE.
Biventricular hypertrophy may be seen. RA enlargement
and pure RVH is present in contracted type of EFE. ECG
findings of myocardial infarction pattern are sometimes
present which confuse with coronary artery anomalies,
however pathological ‘q’ are more often seen in right
precordial leads in EFE in contrast to ALCAPA where it is
present in lateral leads.
Radiography
Marked cardiomegaly is a constant finding, due to LV
and LA enlargement. Pulmonary and aortic shadows are
normal with evidence of pulmonary venous hypertension.
Cardiomegaly is also present in contracted type due to LA,
RA and RV enlargement.
Echocardiography
There is left ventricular and left atrial enlargement with
generalized hypokinesia and increased wall thickness. The
characteristic echo finding is markedly thickened
bright echoes arising from LV endocardium. Color
Doppler shows severity of MR and helps in assessing
pulmonary arterial pressure. Bright echogenic endocardium
is also visible during fetal life making possible a prenatal
diagnosis.
DIAGNOSIS
Infants having cardiomegaly, no cyanosis, congestive heart
failure, loud third heart sound, faint MR murmur or no
murmur, ECG showing LVH with ST-T changes (T
inversion in V5, V6) and X-ray pictures showing significant
cardiomegaly strongly suggest primary endocardial
fibroelastosis. It is not congenital MR because here the
systolic murmur is only of grade 1 to 2/6 (faint murmur).
Echocardiographic evidence of dilated LV with bright
echogenic endocardium, global hypokinesia, mitral
 Primary Endocardial Fibroelastosis
regurgitation and features of pulmonary arterial hypertension
confirm the diagnosis.
DIFFERENTIAL DIAGNOSIS
Conditions producing cardiomegaly, mitral regurgitation,
pulmonary arterial hypertension and CHF in infancy come
under differential diagnosis. They are congenital MR, dilated
cardiomyopathy, myocarditis, endomyocardial fibrosis and
Pompe’s disease. Echocardiography helps in differentiating
EFE from other condition.
COMPLICATION
Mural thrombi formation producing coronary and systemic
embolism and sudden death are the usual complications.
PROGNOSIS
Prognosis in general is very poor. It is observed that younger
the patient and severe the symptoms, worse is the
prognosis. About one third of patients survive beyond child-
hood. The average life span is two years. Sudden death
occurs in infants and in early childhood.
GUIDELINES FOR MANAGEMENT
Congestive heart failure is managed with anti-failure drugs
(digoxin and diuretic) and inotropic agents, but there is no
desirable response in most of the cases because of resistant
CHF. In some cases digoxin is very helpful to control the
73
failure and it is continued for some years. Previously this is
one of the clinical conditions where rapid digitalization was
routinely advised. ACE inhibitors are beneficial. When
tachycardia persists beta-blocker mainly carvedilol is used
because of its beta-blocking and vaso dilating effect. The
role of steroid is controversial, previously used only because
of its collagen origin theory. The response is variable and
difficult to judge. Some respond very well and remain
asymptomatic whereas some do not respond. No operative
procedure is yet available. Now a day cardiac transplantation
is also considered.
SALIENT FEATURES
1. It is a rare anomaly involving primarily the endocardial
layer of left ventricle with proliferation of collagen and
elastic tissue from very birth.
2. The exact etiology is not known intrauterine viral
infection with Coxsackie-B is a possibility.
3. The infant may develop florid features of CHF from very
infancy (fulminating type) or the onset, may be acute. In
another group CHF develops very slowly (chronic type).
4. The clinical features are like that of mitral regurgitation
(murmur of grade 1-2/6) with ECG evidence of LVH
and x-ray picture showing marked cardiomegaly.
5. Echocardiography gives the definite diagnosis by
delineating bright echoes arising from LV endocardium,
global hypokinesia with evidence of MR.
6. Management is mainly medical. CHF is treated with
conventional decongestive therapy, inotropic agents,
ACE inhibitors and in some cases with beta-blockers.
 11 Atrial Septal Defect (Secundum Type)
PK Dash, M Satpathy

INTRODUCTION
Atrial Septal Defect (ASD) is a common congenital acyanotic
heart disease encountered in clinical practice. Traditionally
atrial septal defects are classified by their location within
the septum. As secundum type of ASD develops over
existing foramen ovale it is classified as secondary type
whereas other types are known as primary type of ASD.
DEFINITION
Defect in interatrial septum in the region of fossa ovalis
producing communication between two atria is known as
secundum type of atrial septal defect. A patent foramen
ovale or a stretched foramen ovale is not a true atrial septal
defect because there is no loss of atrial tissue.
HISTORY

CLASSIFICATION (FIG. 11.1) It is the first congenital heart disease recognized in 1531 by
Leonardo Da Vinci who described patent foramen ovale.
1. Secondary Karl von Rokitansky in 1875 described in detail anatomical
Septum secundum type (ASD secundum) (74%) defects and in 1921 Ashman described the clinical and
2. Primary radiological features of atrial septal defects. The first clinical
a. Septum primum defect (20%) diagnosis of ASD was by Bedford and his colleagues in
b. Sinus venosus type (5%) 1941. The first ASD repair using cardiopulmonary bypass
c. Coronary sinus type (1%). was done by Gibbon in 1953.

EMBRYOLOGY
Atrial septal defect of secundum type results when the
septum primum which develops above the atrioventricular
canal, (derived from the tissue linked with endocardial
cushion) fails to unite with the septum secundum which
develops as an infolding from atrial roof and expands
downwards as a thick wall (muscular ridge) to form an
incomplete partition, at the site of fossa ovalis.

Fig. 11.1: Schematic diagram showing incidence
of different types of ASD
Foramen Ovale
It is an interatrial communication that develops in-between
third and fourth week of intrauterine life. It is a slit like
opening in the septum primum, not classified as a type of
septal defect. The septum primum forms the valve and
septum secundum forms the limbus of the fossa ovalis
(Fig. 11.2). It remains patent all through the intrauterine
 Atrial Septal Defect (Secundum Type)
Figs 11.2A and B: Schematic diagram showing development
of atrial septum: (A) Arrow indicates foramen ovale: 1—Septum
secundum, 2—Septum primum, 3—Endocardial cushion (at
55 days of intrauterine life). (B) After birth, arrow shows closed
foramen ovale by flap valve
life as blood flows from right atrium to left atrium. After
birth when left atrial pressure rises, the flap valve of the
fossa ovalis remains apposed to the limbus of the septum
secundum so that the interatrial communication is closed.
In course of time fibrous tissue develops and permanent
anatomical closure occurs by about first year of life. In
some cases (20%), the closure remains incomplete known
as patent foramen ovale (probe patent). In later years of
life when the patent foramen is stretched for some reasons,
it is known as a stretched foramen ovale (acquired ASD)
and functions like small ASD secundum.
INCIDENCE
It is the most common type of ASD accounting for 50 to
75 percent of all ASD. Isolated atrial septal defects occur
in about 6 to 10 percent of all congenital heart diseases.
When associated with other congenital heart diseases the
incidence increases up to 20 percent. Frequency of mitral
valve prolapse alone varies from 8 to 37 percent of cases
of atrial septal defect of secundum type. In adult population
it is the most common congenital heart disease. In some
instances ASD tends to run in families. Spontaneous closure
of ASD secundum occurs in about one-third of cases under
2 years of age irrespective of its size, but if the defect is
more than 0.8 cm it closes rarely after 2 years. About 20
percent of healthy children and adults have probe patent
foramen ovale. It is functionally closed but potentially
functions as an interatrial communication also known as
75
persistent or patent foramen ovale. Patent foramen ovale is
present at birth in 90 to 95 percent of cases. When the size
of the defect is less than 0.3 cm in about 95 percent of
cases it closes by the end of first year of life. As regards
sex incidence of ASD, females out number males by 3:1
ratio.
Types of ASD Secundum
Small or Restrictive ASD
ASD is called restrictive when there is a pressure difference
between the two atria. The size of the restrictive atrial septal
defect is generally less than 1.5 cm, clinically there is no
flow MDM and hemodynamically Qp/Qs is less than 1.5:1.
Echocardiographically there is no feature of RV volume
overload. The size of the defect is indexed according to
square meter of body surface area, so varies from patients
to patients.
Large or Nonrestrictive ASD
It is defined when pressure in both atria are equal. The size
of the defect is equal or more than mitral valve orifice area,
tricuspid flow MDM is audible and hemodynamically the
shunt (Qp/Qs) is more than 1.5:1. Echocardiographic criteria
are large echo dropout with evidence of RV volume
overload.
Septum secundum defect may be multiple or fenestrated
type. The size of the defect varies from 1 cm which is
smallest size clinically detected to virtually absent of septum.
The average size of the defect is 2 to 3 cm.
HEMODYNAMICS
The hemodynamic parameters depend upon the size of the
defect, pulmonary vascular resistance and compliance of
both ventricles. When the ASD is small blood flows from
left atrium to right atrium, because the left atrial pressure is
more than right after birth. When ASD is large the pressure
in both atria are almost same. In this situation, the flow
depends upon the distensibility (compliance) of both
ventricles. As the right ventricle is more distensible, blood
flows from left atrium to right atrium and then right
ventricle, giving rise to increased pulmonary flow (Fig.
11.3). In the newborn there is no flow across the ASD.
With onset of respiration the lungs expand and pulmonary
resistance falls. In the natural course the pulmonary
 76 Clinical Diagnosis of Congenital Heart Disease

arterioles involute and pulmonary vascular resistance falls

further. The right ventricular compliance (distensibility)
increases and right ventricular cavity looks thinner. At the
same time with elimination of placental circulation, systemic
resistance increases, the left ventricular cavity mass is
increased, so left ventricle becomes hypertrophied and its
compliance is decreased. As the compliance of right
ventricle becomes more than that of left ventricle, gradually
left to right shunt through ASD is established. Although
pulmonary hypertension due to increased flow develops,
secondary vascular changes take long time to develop. This
is why patients with large ASD almost remain
asymptomatic with good exercise tolerance. In other
shunt lesions like VSD, APW and PDA as the RV systolic
pressure is directly transmitted to pulmonary vasculature,
normal involution of pulmonary arteries do not occur
therefore they develop pulmonary vascular changes from
infancy. Pulmonary hypertension develops early in these
Fig. 11.3: Schematic diagram showing a large ASD secundum
groups, not in ASD secundum, except when ASD is
(arrow), right atrium (RA), right ventricle (RV) and pulmonary
associated with Down’s syndrome. Pulmonary artery (PA) are enlarged (LA—left atrium, LV—left ventricle,
hypertension in cases of uncorrected ASD secundum is Ao—aorta)
due to acquired reactive pulmonary vascular changes,
age because of prominent murmur. Symptoms appear after
secondary to long standing increased pulmonary flow. Due
late childhood mainly in the form of shortness of breath,
to high pulmonary flow systolic gradient of 15 to 20 mmHg
fatigue and palpitation with exercise. However some infants
across the pulmonary valve may be present. As right atrium,
of large ASD are symptomatic from early life with history
right ventricle receive the shunted blood from left atrium in
of repeated respiratory tract infection (frequent cough)
addition to systemic venous return, they compensate to
undue breathlessness (tachypnea) and feeding difficulty.
this volume overload by dilatation. Therefore RA, RV and
Some of these infants develop congestive heart failure. Why
MPA are dilated. Chronic volume overload changes the a minority of infants become symptomatic and develop CHF
geometry of LV and IVS producing MVP. In adult, the LA is not clearly understood. Beyond infancy, if they thrive,
is enlarged and volume of blood coming to LV and aorta they grow normally without much symptoms. One third of
are usually normal or slightly diminished. In about 10 percent them have spontaneous closure of ASD. In general exercise
cases right upper pulmonary vein communicate tolerance remains good so much so female patients even
anomalously to right atrium. Though cyanosis is not a tolerate multiple pregnancies.
feature, but it may be present in spite of left to right shunt Patients coming with physical deformity of the upper
when a large Eustachian valve directs IVC blood to LA limb like hypoplastic or accessory thumbs or phalanx, absent
through the ASD or when a persistent left superior vena of one hand (abrachia), one hand shorter or less developed
cava drains to left atrium. than the other hand, all these arose strong suspicion of
association of congenital heart disease, mainly ASD (Holt-
CLINICAL FEATURES
Oram syndrome). Children with large ASD sometime appear
Symptoms gracile (thin and tall). A precordial bulge may be present
Patients with small ASD remain asymptomatic throughout due to RV enlargement.
the life, although it may act as a route for paradoxical embo- Some adults complain of peculiar symptoms like dyspnea
lism. particularly on standing which gets relieved on supine
Majority of large ASD are asymptomatic in infancy and posture (known as ‘platypnea-orthodeoxia’) because arterial
childhood. They may come to notice after 4 to 6 weeks of desaturation occurs in upright position which improves on
 Atrial Septal Defect (Secundum Type)
recumbency position. Patients of uncorrected large ASD
mostly deteriorate after 40 years of age either in form of
CHF due to chronic RV volume overload or rhythm prob-
lems (AF atrial fibrillation or supraventricular ectopic).
Hypertension and coronary artery disease by decreasing
LV compliance, augments left to right shunt and thereby
increases burden on the RV. Ten percent of cases develop
pulmonary vascular disease and may present with cyanosis,
fatigue and hemoptysis.
Signs
ASD (Small)
Physical signs are not significant, so cases are clinically
overlooked for years together even up to fourth or fifth
decade. Pulse, blood pressure, pulse pressure, jugular
venous pressure (JVP and its waves) and heart sounds are
all within normal limits. Sometimes second heart sound is
widely split which may not be fixed, and both components
are of equal intensity in infants and children. Short ejection
systolic murmur (ESM) of grade 2–3/6 over upper left
sternal border may arose the suspicion of small ASD but
many times overlooked as functional murmur or non
specific outflow murmur. Rarely the systolic murmur is
produced at atrial level when the defect is small and left
atrial pressure is high. It is more often a continuous murmur
(roaring murmur) as LA pressure is higher throughout the
cardiac cycle.
ASD (Large)
In children the pulse is normally palpable. Normal changes
in pulse rate and volume during Valsalva maneuver are
masked due to large shunt. In large ASD (non restrictive),
a and v waves of JVP are equal (left atrial wave forms are
reflected in JVP). As age advances the a-wave becomes
more prominent because LV compliance decreases, so LA
contracts more forcefully. ‘a’ wave also become prominent
with onset of pulmonary vascular disease which increases
force of RA contraction. The mean JVP may be raised in
elderly patients indicating either RV or LV failure. The
precordium is pulsatile and a brief left parasternal heave
(right ventricular thrust) is felt over left parasternal border.
Apical impulse is diffuse (due to RV systolic retraction).
Pulsation may be seen and felt over second and third left
intercostal space (pulmonary area) indicating dilated and
pulsatile pulmonary artery. Systolic thrill is not felt, if
77
present in the left upper sternal border indicates
associated pulmonary stenosis or mitral stenosis or a
very large shunt. Pulmonary second sound (P2) is palpable.
The first sound is wide split and loud because of the
loud tricuspid component (T1) which is well heard over
lower left sternal border. The loudness is due to rapid closure
of large anterior leaflet of tricuspid valve from a distance,
as right ventricular filling continues throughout the diastole.
A tricuspid opening snap may be heard during inspiration
at lower sternal border. It is produced by the sudden opening
of the tricuspid valve due to large amount of blood getting
into right ventricle in diastole. Right ventricular third heart
sound is also audible due to large early diastolic filling.
The hallmark of diagnosis of ASD secundum is wide
and fixed splitting of second heart sound. In normal
individuals, during inspiration, systemic venous return
increases, so RV end-diastolic volume is relatively more
which leads to prolonged RV mechanical systole delaying
closure of pulmonary valve (P2) producing wide splitting
of second heart sound but in expiration, the end-diastolic
volume is relatively less so splitting is narrow (mobile, not
fixed). In cases of large ASD RV end-diastolic volume
remains unaltered in both phases of respiration because RV
gets extra blood from LA through ASD during expiration
so splitting of S2 remains wide and also fixed. In other
words second heart sound is wide split and fixed because
there is no change in right ventricular end-diastolic volume
in both the phases of respiration. Another explanation for
wide and fixed splitting is hangout interval is increased
which remains unchanged. Hangout interval is the distance
between the descending limb of pulmonary artery and right
ventricular pressure pulse which indicates the impedance
of pulmonary vasculature. The interval between A2 and P2
(average 0.04 sec) characteristically remains fixed (variation
is less than 0.01 sec which is not clinically detected) during
both phases of respiration and not altered by postural
changes. In ASD pulmonary component of second heart
sound is loud because of close proximity of the dilated
pulmonary artery to the chest wall and due to brief elastic
recoil of dilated pulmonary trunk. Persistent splitting varies
with length of the cardiac cycle, in setting of ASD with
atrial fibrillation. Splitting is better audible in longer cycles
particularly in young children.
The typical murmur in ASD is an ejection systolic
murmur (2-3/6) over pulmonary area of crescendo-
 78 Clinical Diagnosis of Congenital Heart Disease
decrescendo type that ends well before second heart sound.
It is produced at pulmonary valve level due to rapid ejection
of large right ventricular stroke volume into the dilated
pulmonary artery (venturi effect). Sometimes the loudness
of murmur is increased due to hypertrophy of crista
supraventricularis, which contributes to the higher grade
of murmur, produced at pulmonary valve level.
A mid-diastolic murmur at lower left parasternal border
is audible due to rapid flow of blood through the tricuspid
valve. It is a medium pitched superficial or scratchy
murmur. Its presence clinically indicates a large ASD
secundum. Although the murmur originates at tricuspid
valve, it does not vary with phases of respiration.
The clinical picture starts changing with development
of pulmonary hypertension and pulmonary vascular disease.
The hyperdynamic volume overload pattern is changed to
pressure overload pattern. The clinical pictures of pulmonary
hypertension gradually appear. There occur decreased
exercise tolerance, increased exertional fatigability and
dizziness on accustomed exertion. The precordium becomes
less pulsatile, pulmonary artery pulsation is better palpable
then visible and left parasternal heave becomes sustained.
Pulse remains normal to low volume with low pulse
pressure, mild central cyanosis on exertion may appear (due
to reverse shunt). In JVP a-wave becomes prominent and
mean pressure is raised with onset of heart failure. The
splitting of first heart sound is not appreciable, splitting of
second heart sound narrows but remain fixed with P2 being
very loud. Pulmonary ejection click appears over left sternal
border. Ejection systolic murmur becomes less prominent
(grade 2/6) over pulmonary area. Tricuspid flow murmur
disappears. When pulmonary hypertension progresses a
pansystolic tricuspid regurgitation murmur is audible at
lower parasternal border. This murmur is classically
increased with inspiration known as Carvallo’s sign.
An early diastolic low-pitched murmur appear over
pulmonary area known as Graham Steell murmur due to
pulmonary regurgitation caused by severe pulmonary arterial
hypertension.
INVESTIGATIONS
Electrocardiography
Electrocardiographic pattern is within normal limit in most
of the cases of small ASD secundum except a few cases
Fig. 11.4: ECG of ASD showing sinus rhythm, right axis
deviation and incomplete RBBB pattern Block (rsR’) in V1 with
persistent S in V5 and V6
having incomplete right bundle branch (RBBB) pattern. In
large ASD, sinus rhythm is present. First degree AV block
(prolonged PR interval) is seen in some cases. ‘P’ wave is
peaked indicating right atrial enlargement.
In cases of the large ASD secundum, right axis
deviation and incomplete RBBB (rSr’ or rSR’ in V1)
pattern are the electrocardiographic hallmarks (Fig.
11.4). The mechanism of RBBB pattern is not clear, however
it is ascribed to disproportionate thickness of crista
supraventricularis towards which the terminal forces are
directed. R or R’ waves in V1 rarely exceed 15 mm in height,
if exceeds indicates presence of pulmonary stenosis or
significant increase in pulmonary vascular resistance. When
pulmonary hypertension is significant, rsR’ or qR or
monophasic R-wave pattern in V1 with reciprocal changes
like wide and prominent s-waves in left precordial leads
(V5-V6) appear. Beyond fourth decade atrial arrhythmia
appear mainly in the form of atrial fibrillation.
Radiography
The X-ray picture is within normal limit in cases of small
ASD secundum. In large ASD cardiomegaly is invariably
present with RA and RV enlargement. The main pulmonary
artery is very prominent including its both branches
(Fig. 11.5). The lungs vascularity is increased known as
pulmonary plethora. The vessels are prominent till extreme
peripheral point with multiple end-on-vessels on both lung
fields. The ascending aorta and its knuckle are inconspi-
cuous. Left atrial size is normal, left atrial enlargement may
be seen in adults, particularly with atrial fibrillation.
Summarizing, cardiomegaly with enlarged RA, RV, dilated
 Atrial Septal Defect (Secundum Type)
Fig. 11.5: X-ray chest in ASD showing cardiomegaly, (RA and
RV prominent) white arrow indicates prominent MPA and black
arrow dilated RPA, there is increased vascularity
PA with inconspicuous aorta and its knuckle give a picture
like “jug handle” type of cardiac silhouette. On
fluoroscopic examination, hilar dance sign is well visualized.
It is due to pulsation of central pulmonary arteries. When
pulmonary hypertension develops, the X-ray picture
gradually changes. The increased vascularity becomes less
marked in the outer third of the lung fields (pruned tree like
appearance). The huge dilated pulmonary arterial branches
are abruptly cut off giving rise to “inverted comma” shape.
The right atrium and ventricle become more prominent,
left atrium and ventricle remain inconspicuous in all views.
Echocardiography
Echocardiography is an important tool in diagnosis of ASD.
Using different modes, starting from M-Mode, 2D Echo
with Doppler, color flow, contrast studies and different
approaches like transthoracic and transesophagial, an
accurate diagnosis is made in most of the cases. Besides
visualization of the defects, assessment of hemodynamic
status and detection of associated lesions are important from
management point of view.
By transthoracic 2D echocardiography interatrial septum
(IAS) can be imaged from apical and subcostal four-
chamber view and also from parasternal short axis view.
79
Because of the orientation of IAS vertically to a subcostal
window, subcostal four chambers view is best to visualize
the IAS and ASD if present. Echo dropout in the mid portion
of IAS is seen in secundum type of defect. False echo drop
out in the IAS is not uncommon. However a true echo
dropout often has slightly thickening at the margins
of the defect called ‘T’ sign. Such a sign when present is
very specific for a true defect. Color Doppler imaging shows
directly the flow across the ASD. It helps in differentiating
a false defect, and gives an idea of size of the defect by
measuring the width of flow at the site of the defect
(Fig. 11.6). Moreover color flow imaging can detect small
defects and multiple perforations in the septum. Doppler
imaging has the unique advantage of measuring pulmonary
arterial pressure, derived from the pressure gradient across
tricuspid valve or pulmonary valve determined from tricuspid
regurgitant or pulmonary regurgitant jet, which is commonly
present. By integrating 2D (cross sectional area) and Doppler
data (time velocity integral) at different places quantification
of left to right shunt can be done. Apart from direct
demonstration of large ASD, the related features of a
large ASD are important to demonstrate. Parasternal
short and long axis views not only shows a dilated RA, RV
and main pulmonary artery but also paradoxical motion of
interventricular septum indicating RV volume overload.
Paradoxical septal motion is best seen by M-mode echo at
the level of ventricles in parasternal long axis view. The
other use of echo in ASD is to determine the status of
pulmonary venous return (associated PAPVC) and to look
Fig. 11.6: Echocardiogram showing large ASD secundum.
(A) there is a large echo dropout in the mid portion of atrial
septum (arrow) in 4-chamber view, and (B) color flow seen
from left atrium to right atrium in diastole (RA—right atrium,
LV—left ventricle, RV—right ventricle)
 80 Clinical Diagnosis of Congenital Heart Disease
for mitral valve prolapse or mitral stenosis if present. When
pressure gradient across the pulmonary valve is high,
disproportionate to shunt and a thickened pulmonary valve
with systolic doming is present it virtually confirm associated
valvular pulmonary stenosis.
Transesophageal echocardiography (TEE) is highly
sensitive and specific (100%) to detect ASD. In case of
any diagnostic difficulty or poor transthoracic window, a
TEE should always be performed to confirm presence of
ASD.
Cardiac Catheterization and Angiography
Cardiac catheterization and angiocardiography is no more
a diagnostic procedure, as echocardiography is confir-
matory. But isolated secundum ASD are catheterized now
a days with advent of device closure of ASD. When the
catheter is passed through groin it easily passed from RA
to LA and to pulmonary veins.
a. When the catheter passes to right lung. It indicates
anomalous pulmonary venous connection.
b. When RA pressure tracing is normal with oxygen step
up (more than 10%) it indicates small ASD.
c. If pressure tracings of RA and LA (a and v wave) are
same and the mean pressure difference between both
atria is less than 3 mmHg it indicates large ASD.
d. Pulmonary vascular resistance is calculated. When it is
more than 2.5 to 3 wood units/m2 is taken high for
large ASD (normal PVR is 0.8 to 1 unit/m2 and SVR is
2 units/m2 in large ASD).
e. When oxygen saturation is 15 percent or more in RA
than SVC or IVC in one sample, atrial septal defect is
diagnosed.
f. Increased oxygen saturation above 60 percent in
coronary sinus indicates anomalous connection of
pulmonary veins or persistent left superior vena cava.
g. In absence of ASD the increased oxygen saturation in
RA (samples taken from lower RA site) is due to the
following cardiac lesions:
1. VSD with TR.
2. Gerbode shunt (shunt between LV to RA)
3. Rupture of sinus of Valsalva aneurysm to RA
4. Coronary AV fistula draining to RA/coronary sinus
h. For oxygen saturation estimation of IVC, blood samples
are usually taken from below hepatic vein, because
reflux of blood occurs to IVC in large ASD.
Angiocardiography is no more needed because of
improved echocardiographic techniques, particularly in case
of ASD secundum. But when complex cardiac lesions are
associated with ASD, angiography is necessary to delineate
the exact anatomical defects.
Nuclear angiocardiography has not much role although
first pass radionuclide angiography can quantify the shunt
particularly in children. Equilibrium blood pooled gated
scans are helpful to study LV and RV functions. Magnetic
resonance imaging has no definite role in setting of ASD.
DIAGNOSIS
Patients of small ASD are asymptomatic even up to old
age. Only on routine examination for other reasons, it may
be detected. The salient clinical pictures of small ASD are
wide splitting (may not be fixed) of second heart sound
and an ejection systolic murmur of grade 1 to 2/6 over
upper left sternal border. When precordium is pulsatile with
pulmonary artery pulsation visible and on auscultation
second heart sound is widely split and fixed (P2 > A2) with
loud P2, ejection systolic murmur Grade 3-4/6 is present
over upper left sternal border, with a short mid-diastolic
murmur over lower parasternal border (tricuspid flow
murmur), clinically large ASD secundum is diagnosed. Right
axis and incomplete RBBB pattern in ECG and prominence
of main and both branches of pulmonary artery with
cardiomegaly and pulmonary plethora in X-ray adds to the
diagnosis. 2D echocardiogram with color Doppler showing
echo dropout with T-sign, RV volume overload and left to
right color flow confirm the diagnosis of large ASD with
exact site and size of the defect.
DIFFERENTIAL DIAGNOSIS
Partial Anomalous Pulmonary
Venous Connection (PAPVC)
These patients remain asymptomatic for a long time. The
clinical features, ECG and X-ray findings are almost similar
to ASD depending upon the number of veins that drain
abnormally. The precordium is pulsatile. The second heart
sound is widely split but mobile (not fixed). Ejection systolic
murmur grade 2 to 3 over both sides of sternal border is
audible. It is 2D echocardiography with color Doppler
imaging is helpful, to delineate the course of the pulmonary
veins and also the type of ASD.
 Atrial Septal Defect (Secundum Type)
Mild Valvular Pulmonary Stenosis (Mild PS)
These patients also do not give any significant history related
to cardiovascular system till adulthood. When examined
for some other reason, it is the wide splitting second sound
and ejection systolic murmur grade 2-3/6 over upper left
sternal border that confuse with ASD secundum. The silent
precordium without apparent pulsation, wide but not fixed
splitting of second heart sound, systolic murmur increasing
with inspiration and presence of ejection click go in favor
of mild PS. Ejection click (EC) is rarely present in ASD
secundum without pulmonary vascular disease. Similarly
mid-diastolic flow murmur over lower sternal border goes
in favor of ASD secundum, not for PS. RBBB in ECG
favors ASD whereas monophasic ‘R’ favors PS.
Cardiomegaly with increased vascularity indicate ASD.
Echocardiography showing a thickened domed valve with
a gradient across RVOT confirms pulmonary stenosis.
Rheumatic Mitral Stenosis
History of typical rheumatic fever or arthritis is a feature of
mitral stenosis. Palpitation, exertional dyspnea and
pulmonary artery pulsation with left parasternal heave are
present in both significant MS and large ASD. First heart
sound is loud and second heart sound (P2) is also loud in
both the cases, but wide and fixed splitting with an ejection
systolic murmur grade 2-3/6 is a constant feature of ASD.
An ejection systolic murmur may be audible in MS with
severe pulmonary hypertension but it is less prominent.
The typical mid diastolic rumbling murmur over apex with
opening snap is diagnostic of mitral stenosis. The flow mid-
diastolic murmur, which is audible in large ASD over lower
parasternal border is short and never of rumbling quality.
LA enlargement (ECG and X-ray) is present in MS. It is
the echocardiography (showing mitral orifice size and mitral
valve status), which gives the final diagnosis. The
combination of these two lesions is clinically known as
Lutembacher’s syndrome, which also comes as a differential
diagnosis to either of the cases.
COMPLICATIONS
1. Small ASD: No apparent complications. However small
ASD is a potential route for paradoxical embolism and
for stroke.
81
2. Large ASD: Repeated respiratory tract infection,
congestive heart failure, paradoxical embolism and
arrhythmias (supraventricular arrhythmias, AF, atrial
ectopics, PSVT). Eisenmenger’s syndrome occurs in
late adulthood. Infective endocarditis is a rare compli-
cation.
NATURAL HISTORY
Patients of isolated small ASD secundum mostly remain
asymptomatic from infancy and lead a normal life. Cases
are diagnosed when examined for some other problems.
Complications of isolated small ASD at any stage of life
(even including infective endocarditis) are extremely rare.
Spontaneous closure of large ASD occurs mainly in early
childhood.
Patients of large ASD are symptomatic from late child-
hood or adolescence. Untreated cases survive up to 5th
decade. Complications like pulmonary hypertension,
congestive heart failure with rhythm problems (Atrial fibril-
lation and flutter) occur near about 4th to 5th decade of
life. Early closure of ASD helps the patient to lead a normal
life.
GUIDELINE FOR MANAGEMENT
Patients having small ASD are asymptomatic and go
unnoticed for year together. Device closure of small ASD
is still debatable; it may be done when paradoxical embolism
occurs or done prophylactically to prevent embolism.
Infants developing congestive heart failure, respond very
well to conventional decongestive therapy (Diuretics and
Digoxin).
All patients having large ASD (Qp/Qs > 1.5: 1) are
subjected for early elective closure of ASD preferably below
5 years of age. Closure of ASD is done either by surgery or
by device closure. Nonsurgical closure (catheter closure)
was started since 1976 by Mills and King. Previously cardio-
seal device, Double-Umbrella device and button devices
were used. Presently Amplatzer septal occluder (ASD
Occlusion Device) is used commonly because of its distinct
advantage over other devices.
Surgery by midsternal sternotomy under cardio-
pulmonary bypass is the usual procedure. Recently surgery
is done by partial sternal split with minimal skin incision
(minimally invasive surgical technique) and ASD is closed
by pericardial or Teflon patch.
 82 Clinical Diagnosis of Congenital Heart Disease
COMPLICATED ATRIAL SEPTAL DEFECT (ASD)
ASD is associated in about 20 percent of other congenital
heart diseases. ASD may be a part of defect in anomalies
like TAPVC, tricuspid atresia, and hypoplastic left heart
syndrome. It may be associated with TGA and Ebstein’s
anomaly of the tricuspid valve. But in these conditions the
hemodynamics is determined by the primary anomaly not
by the ASD. These anomalies have been described in their
respective chapters. However ASD secundum may be
associated with multiple level shunts and anomalies of mitral
and pulmonary valves. Some of these are:
1. ASD with mild or moderate pulmonary stenosis (PS)
2. ASD with patent ductus arteriosus (PDA)
3. ASD with ventricular septal defect (VSD)
4. ASD with rheumatic mitral stenosis (Lutembacher
Syndrome).
ASD with VSD and Lutembacher’s syndrome are
described in separate chapters.
ASD with PS
When mild to moderate PS is associated with large ASD
the hemodynamics is that of the large ASD. These patients
are usually asymptomatic in childhood. Exertional dyspnea
and fatigability are usual symptoms. Precordium is not
hyperdynamic as seen in isolated large ASD. Fixed and
wide splitting second heart sound with normal or decrease
P2, pulmonary EC and a louder and longer murmur 3-5/6
over upper sternal border with a systolic thrill clinch the
diagnosis of ASD with PS. ECG shows disproportionate
RVH (incomplete RBBB pattern with tall R’) than lone ASD
secundum. Echocardiography reveals gradient across
RVOT (more than 30 mm Hg), thick pulmonary valve with
systolic doming in addition to other features of ASD. When
associated with pulmonary branch stenosis, there is a
systolic gradient at pulmonary artery and its branch level,
diagnosed by selective angiocardiography or echocardio-
graphy. The management is aimed at closure of ASD and
then follow up of the progress of PS by serial echocardio-
graphy, the decision for pulmonary valvotomy is taken later
according to its severity.
ASD with PDA
These patients are usually symptomatic from infancy with
repeated respiratory infection and congestive heart failure.
On examination pulse is high volume, there is cardiomegaly
with LV apex, S2 is widely split with P2 very loud with a
continuous murmur present over base, which is widely
audible all over precordium. Often the PDA murmur is only
systolic during infancy because pulmonary hypertension
curtails the diastolic part of murmur. If PDA is large, a
flow MDM is audible over apex. 2D echocardiography with
Doppler flow imaging delineates the size and site of ASD
and PDA. Cardiac catheterization gives the information of
oxygen step up at atrial level and another step up at
pulmonary artery level (due to PDA), In pre-echo era the
typical catheter course through the ductus was confirming
the diagnosis of ASD with PDA and it is selective angiogram
for ASD and retrograde aortography for PDA was
necessary to reconfirm the lesions before surgery.
SALIENT FEATURES
Small ASD
1. Small ASD goes unnoticed even up to late adulthood.
Short ESM over left sternal border with ECG findings of
incomplete RBBB draws the attention of a physician.
2. 2-D Echocardiogram showing echo dropout of
interatrial septum with T sign and left to right color flow
with a gradient across the defect confirms the diagnosis
of small ASD. Right sided volume overload is absent.
Large ASD
1. Most of the infants or children are asymptomatic,
recurrent chest infection may be present. Older children
complain of effort dyspnea.
2. Pulsatile precordium, wide and fixed splitting second
heart sound, loud P2 with ejection systolic murmur grade
3-4/6 over left upper sternal border, with ECG showing
right axis and incomplete RBBB pattern clinch the
diagnosis.
3. Roentgenography shows cardiomegaly, RA and RV
enlargement, prominent main pulmonary artery and its
branches with plethoric lung fields.
4. Echo shows large dropout in interatrial septum with T
sign, RA and RV volume overload and color Doppler
shows typical flow pattern that confirms the diagnosis.
5. Percutaneous device closure or surgical patch closure
is the definitive treatment.
 Atrial Septal Defect (Primum Type) 83

Atrial Septal Defect (Primum Type)

Sunita Maheshwari

SYNONYMS
Incomplete or partial endocardial cushion defect (Type I)/
partial atrioventricular septal defect/ostium primum defect/
ASD-I°.

DEFINITION
The septum primum type of atrial septal defect is a large
defect situated at the lower part of interatrial septum with
two separate AV valve rings and commonly associated with
cleft anterior mitral valve leaflet which gives rise to varying
degrees of mitral regurgitation. The interventricular septum
is characteristically intact in septum primum defect
(Fig. 11.7).

EMBRYOLOGY
During fetal development, the rudimentary atrium (primitive
atrium) is divided by the septum primum which has an
opening in the anterior and inferior part known as the ostium
primum. The ostium primum is normally sealed by fusion
of the superior and inferior endocardial cushions around
the fifth week of gestation. Failure to do so results in an
ostium primum ASD. The endocardial cushions contribute
to the complete formation of 2 separate AV valves and the
inlet interventricular septum. For this reason, ostium
primum ASD is commonly associated with malformations
of these structures.
INCIDENCE
This anomaly was first named as ostium primum defect by
Abbott in 1956. Septum primum defect accounts for about
2 percent of all congenital heart disease. Twenty percent
of atrial septal defects belong to septum primum type of
defect. Females predominate with a sex ratio of 2:1.
Spontaneous closure of ASD primum is not reported.
HEMODYNAMICS
There is no significant alteration in fetal circulation. The
only change that occurs is decrease normal oxygen
Fig. 11.7: Schematic diagram of septum primum type of atrial
septal defect, arrow shows a defect of atrial septum in the
lower portion, both AV valves are in the same plane, IVS is
intact (LA—left atrium, RA—right atrium, LV—left ventricle,
RV—right ventricle)
saturation difference between the ascending and descending
aorta, because more unsaturated blood from RA goes to
LA then to LV and to ascending aorta in setting of septum
primum defect. After birth patients of septum primum defect
show hemodynamic pictures almost same as that of large
ASD secundum and in addition left ventricular overload
pattern due to associated mitral regurgitation (MR). Raised
left atrial pressure increases the left to right shunt and also
pulmonary artery pressure which leads to early development
of pulmonary vascular disease. In some infants a significant
LV to RA shunt is established due to defect in atrioventricular
septum which modifies the clinical course, i.e. it increases
right sided volume overload.
CLINICAL FEATURES
The symptoms and signs depend on size of ASD and
severity of MR. With significant mitral regurgitation,
symptoms and signs appear in early life.
 84 Clinical Diagnosis of Congenital Heart Disease

Symptoms axis mostly varies from –20° to -60° range). The reason
for this constant left axis deviation is not yet clear; the
Symptoms vary from individual to individual. It mainly
possible cause suggested is primarily abnormality
depend on degree of MR. Patients with mild MR remain
(conduction abnormality) of development of bundle of His
almost asymptomatic till adulthood whereas those with
and its branches. Depolarization is counterclockwise with
severe MR are symptomatic from early life. Repeated chest
‘q’ in I and avL. Ascending limb of ‘s’ in II, III, avF may
infection, fatigability, exertional dyspnea and poor weight
be notched due to abnormalities in terminal depolarization.
gain are main presenting features in infants with significant
Precordial leads show incomplete RBBB pattern (rsR’ in
MR. They may also present with congestive heart failure.
V1) with qRs in V5-6 (evidence of left ventricular volume
Sometimes features of mongolism are associated but more
overload Fig. 11.8).
often it is seen in cases of complete atrioventricular septal
defect. Radiography

Signs Cardiac silhouette is enlarged in most of the cases. RV, LV

and RA enlargements are seen in different views. LA
These patients are usually underweight. Cyanosis is enlargement may be inconspicuous despite significant MR
uncommon may appear on exertion with onset of pulmo- (because of ASD). MPA and its branches are prominent
nary vascular disease. Pulse is normal. The JVP may have with increased pulmonary vascularity.
a prominent V wave (left atrial V wave) due to mitral regurgi-
tation. Precordium is usually pulsatile, left parasternal heave Echocardiography
grade I-II is present (due to RV hypertrophy). Apex is loca-
Transthoracic 2D echocardiography images the whole
lized, LV type. Liver may be pulsatile because of TR. Systolic
septum adequately for diagnosis of ASD. Subcostal window
thrill may be present over apex due to MR or sometimes
is the best approach to avoid false echo dropout. However
over pulmonary area due to large pulmonary flow.
primum type of ASD which is diagnosed, as echo dropout
On auscultation first heart sound is accentuated. It may
in the most inferior part of the septum is often best imaged
be soft when PR interval is prolonged, the second heart
in apical four chamber views (Fig. 11.9). There is complete
sound is wide split and fixed. A loud LV third heart sound
absence of atrial tissue above the septal leaflet of AV valves
is present over apex with significant MR. Ejection systolic
and below the foramen ovale. Normally the tricuspid septal
murmur over upper left sternal border (due to large RV
leaflets originate more apically compared to anterior mitral
stroke volume) and a pansystolic murmur (PSM) grade 2-
leaflet but in ostium primum ASD, both leaflets arise from
3/6 over apex due to mitral regurgitation conducted to sternal
the same level as a part of endocardial cushion defect. The
border are audible. TR murmur is difficult to differentiate
cleft mitral valve is seen as a defect in the anterior mitral
from MR murmur. Sometimes a superficial scratchy dia-
stolic murmur is audible over lower left sternal border due
to large flow across tricuspid valve and another flow diastolic
murmur of MR over apex is present. In large ASD when
pulmonary hypertension develops the clinical scenario
gradually changes from volume overload pattern to pressure
overload pattern. Flow murmurs disappear, TR murmur
appears or becomes more prominent, MR murmur remains
as such.

INVESTIGATIONS
Electrocardiography
PR interval is prolonged in 50 percent of cases mainly in Fig. 11.8: ECG of ASD primum, showing left axis deviation,
older patients. Left axis deviation is a constant feature (QRS Incomplete RBBB with qRs in V5 and V6
 Atrial Septal Defect (Primum Type)
Fig. 11.9: Echocardiogram in 4-chamber view showing large
defect in the lower part of the interatrial septum (primum type
of ASD), LA—left atrium, RA—right atrium, MV—mitral valve
leaflet in short axis at about 12 o’clock position of the
valve. Color Doppler examination evaluates the shunt
across the defect; it also estimates presence and severity
of MR, TR and excludes VSD. TR and PR Doppler
gradients help in assessment of pulmonary arterial pressure.
Cardiac Catheterization and Angiography
Cardiac catheterization is not required in cases of ostium
primum ASD. But sometimes it is performed when asso-
ciated with other anomalies or to assess pulmonary vascular
resistance particularly in older children and adults. The
catheter assumes nearly horizontal course (characteristically
low course) when passes from right atrium to left ventricle
through femoral approach. Oxygen saturation shows a step-
up particularly from the lower RA and RV inflow. The
pulmonary wedge pressure, LA and RA pressures are
identical and usually higher than isolated large ASD but
less than complete AV canal defect. The average RV and
pulmonary artery pressures are more than that of large
ASD secundum. Arterial oxygen saturation is normal. Left
ventricular angiogram is taken to rule out associated VSD.
The gooseneck like deformity may be delineated due to
deformity of LV out flow tract, but it is not a constant
feature as in complete endocardial cushion defect.
DIAGNOSIS
Patients are symptomatic from early childhood. Signs of
congestive heart failure, i.e. tachypnea, tachycardia,
hepatomegaly and cardiomegaly are usually present. S2 is
85
widely split, ejection systolic murmur (pulmonary flow
murmur due to ASD) over upper sternal border and
pansystolic murmur (MR murmur) over apex conducted
to left sternal border and occasionally tricuspid regurgitation
(TR) murmur are audible. ECG shows left axis deviation,
counterclockwise loop with incomplete RBBB pattern and
left ventricular hypertrophy (sometimes biventricular
hypertrophy), X-ray shows cardiomegaly with all chambers
enlargement except left atrium. The above clinical signs
and ECG findings almost confirms the diagnosis, but
echocardiography reconfirms with severity of the lesions.
DIFFERENT DIAGNOSIS
1. Complete atrioventricular septal defect (AVSD)
2. ASD secundum with rheumatic MR
3. Common atrium.
Complete AVSD
These two clinical entities belong to one basic group of
malformation. The symptoms and signs are almost same,
but vary with severity. The main differentiating features of
complete endocardial cushion defect are:
1. It has common atrioventricular orifice and valves
2. Leaflets attached in more abnormal fashion giving rise
to AV valve regurgitation and
3. Presence of inlet type of ventricular septal defect. Echo-
cardiographic findings differentiate clearly these two
entities.
ASD Secundum with
Rheumatic Mitral Regurgitation
In this entity patients are not usually symptomatic since
infancy or early childhood. History of Rheumatic fever or
arthritis may be present. Older children having previously
undetected ASD, if develop rheumatic MR, confusion arises
with septum primum defect. In presence of rheumatic MR,
the murmur is radiated to axilla not towards sternal border.
Presence of left axis deviation in ECG excludes the diagnosis
of ASD with rheumatic MR. Echocardiography clearly
delineate the type of ASD (primum or secundum) and gives
an indication of rheumatic involvement of mitral valves
(usually thickened valves) giving rise to MR.
 86 Clinical Diagnosis of Congenital Heart Disease
Common Atrium
The clinical features of this anomaly is almost similar to
that of septum primum defect (partial AVSD) because
primarily they belong to one group of malformation. In
general symptoms are more likely to develop in early life in
these patients than those with a primum ASD. Patients with
common atrium have often systemic desaturation because
of intracardiac mixing (clinically mild cyanosis present).
Howel-Jolly bodies found in peripheral smear when
associated with asplenia syndrome, go in favor of common
atrium. Doppler echocardiography confirms the diagnosis.
COMPLICATIONS
1. Supraventricular arrhythmias (atrial fibrillation and atrial
flutter)
2. Congestive heart failure
i. Precipitated by arrhythmias
ii. Due to infective endocarditis (unlike ASD secundum
this complication is common).
iii. Due to rupture of chordae tendinae
3. Eisenmenger’s syndrome due to development of pulmo-
nary vascular disease, which also leads to congestive
heart failure.
NATURAL COURSE
Life expectancy is shorter for these patients then those
who have only large ASD secundum. Patients with ostium
primum defects develop pulmonary vascular disease unless
treated early. Significant MR and arrhythmias when present
the course is progressive, they develop congestive heart
failure and become very symptomatic by 2nd to 3rd decade
of life. These patients without treatment usually die before
3rd to 4th decade (due to CHF). But within last two decade
the natural course of septum primum defect has greatly
changed due to advancement in surgical technique and its
high success rate.
GUIDELINES FOR MANAGEMENT
Medical Management
Cases those who are not symptomatic need no specific
medical attention. When mitral regurgitation is dominant
the infant or young child may develop congestive heart
failure. These patients are treated with conventional
decongestive drugs like digoxin, diuretics besides ACE
inhibitors, which are sometime helpful. Infective endo-
carditis prophylaxis is routinely advised.
Surgical management is the answer for this anomaly.
Because of improved surgical techniques and ICU manage-
ment all cases should be advised surgery early. In most of
the cases corrective surgery is advised during infancy
because of presence of significant MR or congestive heart
failure. Mitral valvoplasty (closure of the cleft, MV repair)
and ASD closure are done in uncomplicated cases under
cardiopulmonary bypass. Recently minimally invasive
surgical techniques are followed. Elective surgery is advised
particularly between 1 to 2 years of age when there is no
cardiomegaly, no significant MR and pulmonary to systemic
flow ratio < 2:1.
However long-term surgical results depend on
preoperative pulmonary vascular disease and residual MR
besides postoperative arrhythmias including AV block.
Surgery improves the quality of life and long-term survival
in these cases of ASD primum.
SALIENT FEATURES
1. In ASD primum, most of the infants are symptomatic
mainly with respiratory tract infection or CHF. Failure to
thrive and growth retardation.
2. Precordium is pulsatile with prominent V wave in JVP
(due to MR).
3. S2 is widely split and fixed, ESM in pulmonary area with
MR murmur over apex conducted mainly towards
sternal border.
4. ECG shows left axis deviation, counterclockwise loop
with incomplete RBBB pattern and good LV forces with
q in lateral leads.
Acyanotic symptomatic Infants or children having
features of ASD with MR murmur and left axis deviation
with RBBB, the clinical diagnosis is ASD primum.
5. Echocardiography showing echo dropout at the most
inferior part of interatrial septum, AV valves take origin
at the same level with MR confirms the diagnosis.
6. Surgery improves quality of life and is the definitive
advice.
 Atrial Septal Defect (Sinus Venous Type)
Atrial Septal Defect (Sinus Venous Type)
SYNONYM
Sub-caval ASD, superior vena caval defect.
CLASSIFICATION
Two types:
i. Superior defect (superior vena caval type)
ii. Inferior defect (inferior vena caval type).
Superior Defect
During normal embryonic development, the right horn of
the sinus venosus encompasses the right SVC and IVC. If
there is abnormal resorption of the sinus venosus, an atrial
septal defect results near the orifice of either SVC or IVC.
This defect is located at the upper part of the atrial septum
(superior to fossa ovalis) and very close to the entrance of
the superior vena cava. The anatomical landmarks of the
defect are the lower border is by well-defined crescentic
edge of atrial septum and upper border is continuous with
upper edge of the left atrium, i.e. the upper margin is devoid
of atrial septal tissue. Partial anomalous pulmonary venous
connection is mostly associated with this type of defect.
The right upper and middle lobes pulmonary veins drain to
superior vena cava (SVC) at the site of SVC and RA junction.
In this situation, SVC overrides the atrial septum and blood
flow is partially directed towards the left atrium. The lower
right pulmonary vein normally drains to LA. The hemo-
dynamic is like that of a small ASD secundum.
Inferior Defect
This defect is situated posterior and inferior to fossa ovalis.
The right pulmonary veins may drain to right atrium through
inferior vena cava (IVC), just at or before it drains to right
atrium. It is uncommon when compared with superior type
(only in 18% of cases).
Clinical Picture
These patients are invariably asymptomatic in early life and
grow normally. The clinical features are almost same as
87
Sunita Maheshwari, M Satpathy
ASD secundum, except a few signs, which help to differen-
tiate this condition. Second heart sound is widely split but
usually not fixed. Ejection systolic murmur grade 2 to 3 is
widely heard over upper precordial area (not localized like
ASD), no flow mid-diastolic murmur at lower parasternal
border due to relatively small shunt.
Electrocardiography
Electrocardiogram may be similar to that of ASD secundum
but an ectopic atrial rhythm may occur with negative p-
wave in II, III and aVF indicating superior ‘p’ axis (less
than 30%), which may be due to abnormalities of sinoatrial
node. Such abnormality of p-wave axis is diagnostic of
sinus venosus defect (Fig. 11.11).
Radiography
X-ray picture is similar to that of a secundum type of ASD.
In addition it may show ampullary dilatation of lower portion
of the superior vena cava in the right hilar area, which is
characteristic indicating presence of anomalous pulmonary
venous drainage.
Echocardiography
Echocardiogram in the subcostal view delineates the exact
site and size of the defect and the overriding superior vena
cava. It is important to image the SVC as it enters the right
atrium. Presence of typical color flow from SVC to RA
helps in its identification as it straddles over the ASD.
Pulmonary veins and their drainage sites should be identified.
Color Doppler helps in identifying particularly the right upper
pulmonary vein, which commonly drains either to RA or to
SVC (Fig. 11.12). Inferior vena caval type of sinus venosus
defect is seen in the lower part of the septum with the
inferior margin being formed by IVC. 2D Echo is also used
to determine the quantity of shunt, PA pressure and function
 88 Clinical Diagnosis of Congenital Heart Disease

Fig. 11.11: ECG in sinus venosus ASD showing rightward

axis, rSr in V1 and inverted ‘P’ in lead III (Courtesy: SR Anil,
Apollo Hospital, Hyderabad)

GUIDELINES FOR MANAGEMENT

Fig. 11.10: Schematic diagram showing a defect of atrial
septum in the superior portion (Arrow), superior vena cava
(SVC) overrides the defect, right upper pulmonary vein (PV)
communicating to right atrium (Associated PAPVC), LA—left
atrium, RA—right atrium, LV—left ventricle, RV—right
ventricle, Ao—aorta, PA—pulmonary artery
There is no specific medical management. Conservative
treatment is done to allay the symptoms temporarily.
Surgical correction of the defect and other defect if
associated are the only definite line of management.
Surgically a tunnel is constructed through the ASD by
pericardial patch to divert blood to LA from anomalous
pulmonary vein draining to RA before ASD is closed. Care
is taken not to injure SA node and the artery supplying to it.

Figs 11.12A to C: Echo showing (A) ASD sinus venosus type (Arrow), (B) right upper pulmonary vein (arrow) draining to SVC
and RA junction, (C) Color Doppler interrogation showing flow from SVC and across the ASD (SV ASD—sinus venosus type of
atrial septal defect, LA—left atrium, RA—right atrium, IVC—inferior vena cava, SVC—superior vena cava)

of both ventricles. TEE is superior to TTE in diagnosis of SALIENT FEATURES

sinus venosus type of defect.
Cardiac catheterization and angiography are not required
for diagnosis, but sometimes needed before surgery. The
catheter course is typical; it takes an acute turn at a higher
plane then the usual site. When the catheter does not pass
to LA, instead passes easily to lung fields, anomalous
pulmonary venous drainage (sinus venosus defect) is
strongly suspected. In superior type of sinus venosus ASD,
O2 content of the SVC is higher than the innominate vein.
1. Asymptomatic infants or children with S2 widely split
not fixed with ejection systolic murmur grade 2-3/6 over
upper left sternal border and ECG showing negative P
wave in II, III or avF with incomplete RBBB pattern leads
the physician to suspect sinus venosus type of ASD.
2. Echo in subcostal view showing defect at the upper
most part of interatrial septum with SVC overriding the
defect frequently associated PAPVC confirms the
diagnosis.
3. Surgery is advised in most of the cases.
 Atrial Septal Defect (Coronary Sinus Type)
Atrial Septal Defect (Coronary Sinus Type)
It is a defect in the atrial septum situated at the position that
is normally occupied by the mouth of the coronary sinus.
It is characterized by absence of a part or all of the common
partition between coronary sinus and left atrium (unroofed
coronary sinus). There is persistent left superior vena cava
(LSVC) which opens to left atrium as there is no partition
between LA and coronary sinus (Fig. 11.13). It is sometimes
a large defect encroaches often the triangle of Koch up to
atrioventricular node with free communication between RA
and LA.
The morphology of unroofed coronary sinus was
described in detail by Raghib, Edwards and his colleague in
1965. The term unroofed coronary sinus syndrome was
given by Helseth and Peterson in 1974. In this unroofed
coronary sinus syndrome with LSVC, the left innominate
vein is absent in about 80 to 90 percent of cases.
Fig. 11.13: Schematic diagram showing defect of atrial septum
(arrow) in the location of opening of coronary sinus, dotted
lines indicate an unroofed coronary sinus, also seen a
persistent left superior vena cava draining to LA
89
Sunita Maheshwari, M Satpathy
Clinical pictures of isolated coronary sinus defect is
almost same as that of ASD secundum with some differen-
tiating points, like cyanosis may be present due to LSVC
draining to LA, second sound normally split or widely split
but not fixed and no flow MDM over lower sternal border.
This defect is usually associated with AV canal type of
defect, heterotaxy syndrome and asplenia syndrome.
Echocardiography
Coronary sinus type of ASD is difficult to image through
transthoracic window. If right ventricular volume overload
is seen without any obvious cause, like an ASD, PAPVC or
TR, then one should suspect presence of coronary sinus
type of ASD. Demonstrating a persistent left superior
vena cava (LSVC) draining to LA is the key to diagnose
such defect. It is easily imaged in infants and young children
through a suprasternal window, as a vertical structure
immediately left to the aorta. Color flow with Doppler
interrogation identifies a venous flow towards heart and
helps in identifying LSVC.
Note: Persistence of LSVC in a setting of RV volume overload
raises a strong suspicion for presence of coronary sinus type
of ASD.
Unroofing of coronary sinus and defect in the interatrial
septum around the opening of coronary sinus is diagnostic
of coronary sinus ASD which is better delineated by trans
esophageal echo (TEE). Contrast study (with saline
injection) in the left arm will demonstrate the saline filling
in the left atrium which is particularly diagnostic of LSVC
draining to LA.
Prior to echocardiography era cardiac catheterization
and angiography were essential to confirm this type of
cardiac anomaly. Oxygen saturation step up, at RA level
 90 Clinical Diagnosis of Congenital Heart Disease
and peculiar catheter course indicates the abnormal venous
connections associated with this defect.
GUIDELINES FOR MANAGEMENT
There is no specific medical management except
symptomatic relief. Surgical correction (similar to
techniques for repair of TAPVC) is the only definite line of
management. Care is taken to protect the AV node during
surgical closure which is very close to the defect.
SALIENT FEATURES
1. It is difficult to diagnose clinically. Mild cyanosis when
associated with features of ASD one can suspect
coronary sinus defect as one of the possibilities.
2. Coronary sinus defect when associated with persistent
LSVC is known as Raghib’s syndrome.
2. Echo findings of unroofed coronary sinus, persistent
LSVC along with features of right sided volume overload
give the diagnosis. TEE may show the defect directly.
3. Surgical correction is the definitive line of management.
 12 Atrial Septal Defect with
Associated Common Anomalies
M Satpathy

LUTEMBACHER’S SYNDROME
Introduction
This syndrome consists of atrial septal defect (ASD) of
secundum type and rheumatic mitral stenosis (MS)
(Fig. 12.1). Rheumatic mitral regurgitation, other mitral
valve lesions and mitral stenosis with patent foramen ovale
are not included in this syndrome.

History
Corvisart first described the association of ASD with rheu-
matic mitral stenosis in 1811. Subsequently Lutembacher
described in detail this combined lesion of ASD secundum
with mitral stenosis in 1916.

Incidence
The incidence varies from country to country depending
upon the incidence of rheumatic mitral stenosis. It is more
prevalent in developing countries with female predominance.
However it is becoming rarer because of early detection
and closure of ASD secundum before rheumatic mitral
stenosis develops and also due to decreasing incidence of
rheumatic heart disease.
Hemodynamics
The hemodynamic effects depend mainly on the severity
of mitral stenosis and size of the atrial septal defect. When
mitral stenosis is severe the hemodynamic changes are,
increased left atrial and pulmonary venous pressures giving
rise to pulmonary arterial hypertension. Subsequently
clinical signs of right ventricular (RV) hypertrophy, tricuspid
regurgitation and congestive heart failure develop. Severe
mitral stenosis also augments left to right shunt through
the ASD thereby increasing RV volume overload and
Fig. 12.1: Schematic diagram showing a large ASD (bold arrow)
with thick and domed stenotic mitral valve (thin arrow) of rheu-
matic origin (LA—left atrium, RA—right atrium, LV—left ven-
tricle, RV—right ventricle, Ao—aorta, PA—pulmonary artery)
pulmonary flow which also contributes to development of
pulmonary arterial hypertension and RV failure. On the other
hand when ASD is large and mitral stenosis is mild to
moderate, pulmonary venous hypertension takes a long-
time to develop because LA pressure is not increased.
Lutembacher syndrome is well tolerated by patients
for a long time because the blood is shunted through
ASD to RA, so pressure is not built up at left atrium.
Pulmonary venous hypertension and pulmonary edema
develop late.
Clinical Features
The symptoms and signs depend on severity of MS because
ASD is generally large. Uncommonly when ASD is restric-
tive, symptoms are determined by MS.
 92 Clinical Diagnosis of Congenital Heart Disease

Symptoms
Patients remain asymptomatic even upto late adulthood,
when mitral stenosis is mild or moderate and ASD is small.
Symptoms like hemoptysis, paroxysmal nocturnal dyspnea
or orthopnea indicate mitral stenosis is the dominant lesion.
Symptoms like exertional dyspnea, palpitation, and fatigability
appear early, if mitral stenosis is severe and/or ASD is large.
Fig. 12.2: ECG of Lutembacher’s syndrome showing
Signs rightward axis, left atrial enlargement, and rSR pattern in V1
The typical signs of mitral stenosis (moderate to severe)
like snappy first heart sound, opening snap, mid-diastolic Radiography
rumbling murmur with presystolic accentuation are not Cardiomegaly occurs due to right atrial and right ventricular
usually present when associated with large ASD, instead dilatation. Main pulmonary artery and its main branches
subtle signs of mitral stenosis like loud first heart sound, are dilated with increased lung vascularity. Pulmonary
short mid diastolic murmur and rarely opening snap are venous congestion is absent despite mitral stenosis because
present. The reason being the left atrial pressure is not of LA decompensation (12.3).
increased, as there is an outlet from left atrium to right
atrium through atrial septal defect. Therefore the gradient Echocardiography
across mitral valve is not high. This low gradient is obtained 2D echocardiography with color Doppler plays an important
at the cost of increased left to right shunt. Signs of large role in diagnosis. The severity of mitral stenosis and size
ASD like S2 wide and fixed split with loud P2 and ejection and type of ASD are accurately estimated. Gradient across
systolic murmur over upper left sternal border are more the mitral valve is less despite severe MS (Fig. 12.4).
prominent. In this situation pulse is low volume because of Planimetric measurement of mitral valve area is more
decreased cardiac output and mean jugular venous pressure
is raised with prominent a-wave (left atrial pressure
transmitted to RA). Presence of a systolic thrill over upper
left sternal border is suggestive of presence of mitral stenosis
(not present in isolated large ASD). Besides, a mild valvular
PS with large ASD is also associated with a thrill. A
continuous high pitched murmur is audible over left sternal
border when ASD is small and mitral stenosis is severe
because there is a sustained turbulent flow across atrial
septal communication throughout the cardiac cycle.

Investigation
Electrocardiography
The specific electrocardiographic findings are P-wave is
tall and peaked in II, avF and a deep prolonged negative
component of P-wave in V1 indicating bi-atrial enlargement.
Fig. 12.3: Chest X-ray of Lutembacher’s syndrome showing
rsR or qR in V1 is present indicating right ventricular hyper- cardiomegaly of RV contour, bi-atrial enlargement, dilated main
trophy which is disproportionately prominent as compared pulmonary artery and right pulmonary artery (Courtesy: Dr P
to isolated ASD (Fig. 12.2). Pati, CMC, Vellore)
 Atrial Septal Defect with Associated Common Anomalies
Figs 12.4A and B: (A) Echo showing a large ASD in left panel
and, thick and domed stenotic mitral valve in right panel.
(B) color flow from left atrium to right atrium through ASD (LA—
left atrium, RA—right atrium, LV—left ventricle, RV—right
ventricle, Ao—aorta, MV—mitral valve)
accurate method to assess severity of MS. Transesophageal
echocardiography clearly outlines the site and size of ASD
with its flow pattern.
Cardiac Catheterization and Angiography
Cardiac catheterization is not required because of accurate
information available from echocardiography. But in recent
years these patients are subjected to catheterization and
angiography for percutaneous interventional procedures.
Diagnosis
Lutembacher syndrome is clinically diagnosed when a
systolic thrill over left upper sternal border is palpable, first
93
heart sound is loud, second heart sound is widely split and
fixed, mid-diastolic murmur over apex, and ejection systolic
murmur grade 4-5/6 present over left upper sternal border
with ECG findings of bi-atrial and right ventricular
enlargement are present. However echocardiography
confirms the diagnosis.
Differential Diagnosis
Isolated large ASD secundum and isolated mitral stenosis
are to be differentiated from Lutembacher syndrome.
A large ASD secundum alone have many findings similar
to MS. Loud first sound may be due to loud tricuspid
component, wide split loud P2 may be confused with
opening snap, a mid diastolic murmur of tricuspid origin
may also occur. But presence of a systolic thrill at pulmonary
area, mid diastolic murmur in mitral area, LA enlargement,
disproportionate RVH in ECG and echocardiographic
findings differentiate Lutembacher’s syndrome from isolated
ASD. Isolated MS is not confused with Lutembacher’s
syndrome because of the typical snapping first heart sound,
opening snap, rough rumbling mid diastolic murmur and
absence of wide fixed splitting of S2 and absence of a
prominent ejection systolic murmur over upper left sternal
border.
Guidelines for Management
Patients of Lutembacher syndrome become symptomatic
during adolescence because of progressive nature of mitral
stenosis. Patients without surgery develop congestive heart
failure and arrhythmias in subsequent years and managed
with conventional antifailure and antiarrhythmic drugs.
Recently interventional catheter therapy like balloon mitral
valvotomy for severe mitral stenosis and subsequently device
closure for ASD is considered. However, until now surgical
intervention by closure of ASD under cardiopulmonary
bypass and simultaneous correction of mitral stenosis by
open mitral valvotomy is the standard procedure.
SALIENT FEATURES
1. When ASD is associated with rheumatic mitral stenosis
(not with other lesions) the clinical condition is known
as Lutembacher’s syndrome.
2. The hemodynamics depends upon which lesion is a
dominant one.
 94 Clinical Diagnosis of Congenital Heart Disease
3. Patients having mild to moderate lesions of both ASD
and MS remain asymptomatic even upto late adulthood.
4. In setting of large ASD if a systolic thrill is palpable over
upper left sternal border, clinically associated MS is
highly suspected. A continuous murmur may be audible
when ASD is small and MS is severe.
5. Echocardiography well demonstrates the site and size
of ASD and severity of MS.
6. Surgery is the definite way of management.
PARTIAL ANOMALOUS PULMONARY
VENOUS CONNECTION
Definition
Partial anomalous pulmonary venous connection (PAPVC)
is an anomaly where one or more but not all the four
pulmonary veins are connected to the morphologic right
atrium or systemic veins (Fig. 12.5).
History
The earliest report of anomalous pulmonary venous drainage
was a case of partial anomalous one described by Winslow
in 1739. The first clinical, cardiac catheterization and
angiocardiographic diagnosis was by Dotterin 1949. The
term anomalous venous connection was given by Edwards
in 1953.
Incidence
The incidence of PAPVC is 0.7 percent amongst all conge-
nital heart disease. It is present in about 9 percent of cases
of atrial septal defect (ASD), but present with almost all
cases of sinus venosus type of ASD. The sex ratio is equal
(1:1). Some other anomalies commonly associated with
PAPVC are:
1. Asplenia and polysplenia syndromes
2. Turner syndrome
3. Noonan syndrome
4. TOF.
Embryology
Early partial obliteration of common pulmonary vein is
responsible for giving rise to PAPVC type of defects. It
represents persistence of embryonic anastomosis between
systemic and pulmonary venous plexus. In other words
when one or both pulmonary veins enter into primitive atria
on the wrong side of the growing septum that is into right
atrium instead of left atrium, partial anomalous pulmonary
venous connections develop in postnatal life.
Types of PAPVC
a. Simple/uncomplicated
No cardiac anomaly is associated with PAPVC
b. Complicated
Associated with cardiac lesions like TOF, Single ventri-
cle, Tricuspid atresia and ASD secundum type besides sinus
venosus ASD.
Anatomical Types of Connections
Anomalous pulmonary venous connection can persist in
many possible ways. This usually involves one or both the
right pulmonary veins. The most common one is one or
more right pulmonary vein draining to superior vena cava
(SVC), next is to right atrium (RA) and only in a few cases
to inferior vena cava (IVC) (Fig. 12.5). The cases draining
to SVC or RA are usually associated with sinus venosus
type of ASD. PAPVC can also occur with intact atrial
septum or secundum type of ASD. The abnormal pulmonary
venous connection from right lung to IVC is a component
of Scimitar syndrome. The other components are
hypoplasia of right lung and right pulmonary artery with
dextroposition of heart. There may occur abnormal systemic
Fig. 12.5: Schematic diagram of PAPVC, both right pulmonary
veins drain to right atrium (RA) and both left pulmonary veins
drain to left atrium (LA), PV—Pulmonary vein, LPA—left
pulmonary artery, RPA—right pulmonary artery, RV—right
ventricle, LV—left ventricle, Ao—aorta, PA—pulmonary artery
 Atrial Septal Defect with Associated Common Anomalies 95

arterial supply to the right lung. PAPVC may also involve Electrocardiography
the left pulmonary veins coming from left lung where they
The ECG findings are same as that of small ASD secundum
join a persistent left SVC which connects to RA through
(incomplete RBBB pattern, rSR in V1-V2 and occasionally
coronary sinus.
right axis). Associated sinus venosus ASD is suspected
when abnormality of sinus node are detected like superior
Hemodynamics
‘P’ axis.
The hemodynamic changes mainly depend on (a) the number
of veins draining anomalously into right side, (b) presence Radiography
or absence of ASD and (c) size of ASD. In case of PAPVC Cardiomegaly is uncommon (left to right shunt is not large)
with intact atrial septum only when all but one pulmonary when present; it is due to right ventricular dilatation. As the
vein drain to RA significant hemodynamic effect occur, RA pressure is less than that of LA, pulmonary vascularity
because about 80 percent of pulmonary venous drainage is increased and more marked in the part of lung that drain
occur to this chamber. The hemodynamic effect of PAPVC anomalously to RA. The most important radiological feature,
is like that of ASD as it acts as a left to right shunt at pre- which helps in correct clinical diagnosis of PAPVC, is
tricuspid level. Right sided volume overload depends on Scimitar sign. It is due to the anomalous right pulmonary
amount of pulmonary venous blood shunted to RA. When veins which together form a large vessel and descends down
PAPVC involves only one or two veins and is associated to drain to IVC below diaphragm. The large vessel gives
with small ASD, there is no extrahemodynamic burden. the appearance of a Turkish sword (Scimitar) in frontal
When one anomalous pulmonary vein is connected to RA view, which is known as Scimitar sign (Fig. 12.6). Other
only 20 percent of total pulmonary venous output comes associated radiological features like hypoplasia of right lung
to right side. In presence of large ASD the hemodynamics and dextroposition of heart are also seen.
of ASD predominates. PAPVC adds to the RA and RV
volume overload produced by ASD. Echocardiography
Apical, subcoastal and suprasternal views are used to
Clinical Features delineate all four pulmonary veins and their point of drainage
The clinical features depend on the hemodynamic changes
of PAPVC. Majority of these cases are asymptomatic and
grow normally even upto late adulthood (like small ASD),
No definite abnormal findings are detected on physical
examination. Heart sounds are normally heard. Usually no
murmur except in a few cases, a short ejection systolic
murmur grade 2/6 may be audible over left upper sternal
border.
When all pulmonary veins except one drain to right
atrium, volume overload occurs even if atrial septum is
intact. Patients belonging to this group behave like a large
ASD. Second heart sound is widely split, but mobile (varies
with respiration) and ejection systolic murmur (grade 3-4)
over left upper sternal border is present.
In scimitar syndrome when all pulmonary veins of right
side join together and drain to IVC below the diaphragram
(infradiaphragmatic type), the clinical situation becomes
Fig. 12.6: X-ray chest arrows showing the course of anomalous
different. These infants are quite symptomatic with mainly right pulmonary veins draining to IVC below diaphragm
respiratory problem, because right lung parenchyma is (Scimitar sign) (Courtesy: Dr SR Anil, Apollo Hospital,
involved. The physical findings are like that of ASD. Hyderabad)
 96 Clinical Diagnosis of Congenital Heart Disease

by color Doppler imaging. Sinus venosus ASD is well imaged

in subcostal view. Transesophageal echo (TEE) is superior
then transthoracic echo in diagnosis of sinus venosus ASD
and PAPVC. When right ventricular volume overload pattern
is seen in presence of intact atrial septum the diagnosis of
PAPVC is a possibility.

Magnetic Resonance Imaging (MRI) and

Computed Tomography (CT)
These non-invasive methods help in definite diagnosis of
PAPVC. All pulmonary veins draining in normal or abnormal
ways can be screened till their point of drainage by the help
of cine MRI. Missing these anomalous veins before surgery
is hazardous. Magnetic resonance angiography has become
popular because it has made the diagnosis of PAPVC easy Fig. 12.7: Right pulmonary artery angio in venous phase
showing anomalous right pulmonary venous drainage to IVC.
in recent years.
(Courtesy: Dr SR Anil, Apollo Hospital, Hyderabad)

Cardiac Catheterization and Angiography

Diagnostic cardiac catheterization is not necessary now a
day; only in complicated cases (associated with cyanotic
anomalies) it is indicated. With intact interatrial septum the
catheter cannot be passed from RA to LA and when there
is no difference between RA pressure and pulmonary wedge
pressure, PAPVC is the diagnosis. High oxygen content in
SVC, IVC and in RA arose the suspicion of PAPVC. When
the catheter passes through IVC and goes towards lungs
field instead of entering RA, PAPVC (infra diaphragmatic
type) is diagnosed. Selective angiography in pulmonary trunk
in levophase delineates the course of the pulmonary veins
till their points of drainage (Fig. 12.7).
Diagnosis
Clinically PAPVC and ASD is difficult to be differentiated.
These cases are relatively asymptomatic, may present with
palpitation and dyspnea on exertion. On examination there
is RV dominance, S2 widely split, varies with respiration
(fixed when associated with large ASD) and ejection systolic
murmur of 2-3/6 over left sternal border favor the diagnosis
of PAPVC. ECG is not helpful. It is the radiological feature
of an abnormal vascular shadow almost parallel to the right
cardiac border piercing the diaphragm (Scimitar shaped) if
present; it is highly suggestive of PAPVC. Unequal vascu-
larity of portions of lungs also arose suspicion of PAPVC.
Direct proof of presence of PAPVC is, if the course of
catheter from IVC or SVC passes towards lungs fields.
Selective pulmonary angiogram also delineates the course
of anomalous veins.
Differential Diagnosis
Clinical conditions, which are asymptomatic with presence
of an ejection systolic murmur over precordium, come
under differential diagnosis. These conditions are
1. ASD secundum (small)
2. Pulmonary stenosis (mild)
3. Innocent murmurs.
Some cases of PAPVC of infradiaphragmatic type
(Scimitar syndrome) and those involving all, but one
pulmonary vein may clinically confuse with TAPVC or large
ASD (secundum or primum).
ASD Secundum (Small)
PAPVC and small ASD have near similar clinical features
and difficult to differentiate clinically.
Pulmonary Stenosis (Mild)
Mild pulmonary stenosis is differentiated by harsh ejection
systolic murmur, S 2 widely split with diminished P2,
presence of ejection click and post stenotic dilatation of
MPA in chest X-ray which differentiates it from PAPVC.
 Atrial Septal Defect with Associated Common Anomalies
Innocent Murmur
In cases of innocent or functional murmur there is no
cardiomegaly, heart sounds are normally heard, change of
intensity of murmur on change of posture or on pressure
(over the area where murmur is audible), favors presence
of innocent or inorganic murmurs.
However, it is 2-D echocardiogram with color Doppler
imaging that gives the final diagnosis.
Complications
Complications usually occur with complicated type of
PAPVC.
They are:
1. Congestive heart failure
2. Eisenmenger’s syndrome and arrhythmias particularly
supraventricular type at late age.
Prognosis
Most of the patients of isolated PAPVC lead normal life
with normal life expectancy. Only a few cases having
features of Scimitar syndrome develop repeated chest
infection in early life and subsequently develop pulmonary
vascular disease and become very symptomatic by the 3rd
to 4th decade. Corrective surgery has changed the outlook
of this small group of patients.
GUIDELINES FOR MANAGEMENT
Medical Management
Infants having infradiaphragmatic type (Scimitar
syndromes) become very sick due to respiratory problem
97
and sometimes develop congestive heart failure. These
children should ideally be treated in a tertiary hospital.
Surgical Management
Surgery is the only definitive way of management. The
main indication for surgery is if the shunt is more than 2:1
and/or patient is diagnosed as scimitar syndrome. The
surgical approach and techniques defer as per types of
anomalous venous connections and also associated cardiac
anomalies. The surgery is carried out between 2 to 5 years
of age under cardiopulmonary bypass, before pulmonary
vascular disease occurs. Postoperative complication like
SVC obstruction and arrhythmias are to be managed. Now
a days surgery is rewarding, because the surgical mortality
rate is less than 1 percent.
SALIENT FEATURES
1. When one or more but not all four pulmonary veins are
connected to RA or systemic veins the condition is
known as partial anomalous pulmonary venous
connection (PAPVC).
2. The right pulmonary vein (superior) draining to SVC or
RA is the most common abnormality.
3. Majority of patients are asymptomatic, behave like small
ASD.
4. Symptomatic infants having features of ASD with
radiological evidence of Scimitar sign belong to
infradiaphragmatic type of PAPVC.
5. Echocardiography, particularly TEE showing the
abnormal venous connection confirms the diagnosis.
Cardiac catheterization and angiography are done
before surgery.
6. Surgery is the definitive way of management.
 13 Ventricular Septal Defect
DEFINITION
Ventricular septal defect (VSD) is a congenital opening
(hole) in the interventricular septum, which connects both
ventricles of the heart.
HISTORY
Henri Roger described the clinical findings of VSD in 1879
and subsequently small VSDs were named as Maladie de
Roger. The first classification of VSD was mentioned by
Taussig in 1947.
INCIDENCE
Incidence of VSD is about 12 percent amongst all congenital
heart diseases in adults. Lower prevalence of VSD in adults
is due to spontaneous closure of many VSD’s during
infancy and early childhood. Therefore the incidence
reported in different series varies and sometimes
underestimated. It is the most common lesion associated
with many chromosomal disorders like Trisomy 13, 18
and 21. Incidence in premature infants is twice than that of
termed ones. Incidence in all live births is 1.5 to 3.5/1000
in full term infants and 4.5 to 7.0/1000 in premature infants.
Higher incidence of VSD in recent years is largely attributed
to the increasing diagnostic facilities particularly color
Doppler mapping. On the other hand it is also observed
(due to Doppler mapping) that there is increase in rate of
spontaneous closure of VSD. VSD is more common in
females than males.
EMBRYOLOGY
The interventricular septum starts developing between the
5th and 7th week of intrauterine life from interventricular
groove formed during the process of expansion of primitive
PR Gupta, M Satpathy
ventricle into two ventricles. This interventricular septum
is a muscular partition, which grows towards the endocardial
bar formed by medial portion of both ventricles. The septum
which is derived from the aortic growth of the endocardial
bar that joins with the muscular septum to complete the
interventricular septum is membranous in nature (known
as membranous septum). Its upper portion which is situated
in the space of Peacock, separates left ventricle (LV) from
right atrium (RA). The closure of the membranous inter-
ventricular septum occurs in such a way that pulmonary
artery continue to remain with right ventricle (RV) and aorta
with LV. VSD results due to maldevelopment or non-
development of membranous septum or deficiency in mus-
cular septum during the process of normal development.
ABNORMAL ANATOMY
The normal anatomy of intraventricular septum is not that
simple as it appears from its outside morphology rather it is
quite complex. It is connected to both ventricles and atrial
chambers besides both great vessels in different ways.
Therefore, its abnormal anatomy is sometimes very difficult
to understand.
The ventricular septum is formed by union of four septa
from different directions:
1. Bulbar septum
2. The ventricular sinus septum
3. The retrocristal septum and
4. The atrioventricular septum.
In other words, the components of ventricular septum
when viewed from right ventricular side (Fig. 13.2) are:
1. Membranous septum: septal leaflets of tricuspid valve
is attached to it, dividing it into upper atrioventricular
and lower ventricular component. It is continuous with
the central fibrous body, which is the area of attachment
between tricuspid, aortic and mitral valves.
 Ventricular Septal Defect
Figs 13.1A to D: Schematic diagrams of different types of
VSDs. Arrow showing (A) Sub-aortic (Perimembranous),
(B) Muscular, (C) Subpulmonic (supracristal), and (D) Inlet
type
2. Muscular septum, it is again of three types:
a. Inlet septum: It is close to RV inflow tract and atrio-
ventricular valve.
b. Trabecular septum: It is in between the inlet and
outlet septum.
c. Outlet septum: It is close to RV outflow tract. A
defect in the ventricular septum can occur in any of
the above part of septum with variable extension to
other parts.
CLASSIFICATION
For all practical purposes VSD is of congenital origin. Within
the last 5 decades VSD has been classified in various ways.
More than a dozen of classifications are seen in literature,
but what is needed in a classification, which will give better
99
Fig. 13.2: Schematic diagram of ventricular septum
showing its different parts from right ventricular aspect
understanding of clinical presentation and an accurate way
to decide for surgery is lacking. Among these, modified
Soto’s classification of VSD is the most popular and
acceptable one. The important classifications are as follows.
1. Edward classification: Four types of VSD
a. Outflow VSD
b. Inflow VSD
c. Outflow and inflow VSD
d. Left ventricle to right atrial communication.
2. Clinical classification postulated by Kirklin.
Type I: Supracristal (about 5% of cases, more in Asian
countries particularly in Japan).
Type II: Infracristal or membranous (about 80% of
cases).
Type III: AV canal type of defect (about 10% of cases).
Type IV: Muscular septum defect (about 20% of cases).
3. Modified Soto’s classification (1989). He classified VSD
into four groups (Fig. 13.1).
I. Peri-membranous VSD (infra-cristal, sub-aortic or
membranous): It is the most common type and
occurs in about 80 percent of cases.
II. Outlet VSD (doubly committed, Juxta arterial defect,
supracristal, sub-pulmonic, infundibular or conal):
It occurs in about 5 to 7 percent of cases. But in
Asian countries the incidence is as high as 20 to
25 percent.
 100 Clinical Diagnosis of Congenital Heart Disease
III.Inlet VSD (non peri-membranous, Juxta tricuspid):
It occurs in about 5 to 8 percent of cases.
IV. Muscular VSD (central, apical, marginal and multi-
ple): It occurs in about 5 to 10 percent of cases.
VSD may be acquired: Causes are.
a. Perforation of an infarcted intraventricular septum, due
to acute myocardial infarction.
b. Perforation of ventricular septum as a complication of
infective endocarditis.
c. Rupture of ventricular septum as a result of trauma.
d. Rarely, septal perforation occurs during diagnostic
cardiac catheterization.
HEMODYNAMICS
During Fetal Life
Isolated VSD usually does not produce any hemodynamic
disturbance in fetal circulation. The RV and LV systolic
pressure is equal in fetus. Therefore there is no flow across
VSD. The fetal organs grow normally. However in some
fetus supra-cristal type of VSD gives rise to sub-valvular
muscular hypertrophic narrowing of the LV outflow tract,
so the pulmonary circulation is exposed to higher oxygen
saturation, which retard the normal development of pulmo-
nary arteriolar smooth muscles. This, in postnatal period
gives rise to increased pulmonary vascular resistance known
as persistence of fetal pattern in postnatal circulation.
Postnatal Life
The hemodynamic disturbances mainly depend on the size
of the defect and the relative systemic and pulmonary
vascular resistance. During postnatal period the systemic
vascular resistance (SVR) increases as the low resistance
umbilical placental circulation is cut off and as lungs starts
expanding, the pulmonary vascular resistance (PVR) falls.
The systemic resistance becomes higher than pulmonary
resistance so preferential flow occurs from LV to RV and
then into pulmonary circulation. In premature infants PVR
drops rapidly establishing a large pulmonary flow, therefore
pulmonary edema develops early. The pulmonary arteriolar
smooth muscle layers are not formed at the time of
premature birth, so it gives rise to pulmonary edema. The
other reasons for CHF in neonates are immature sympathetic
innervations of cardiac muscle and that of contractile
system, so that LV is unable to handle the increased amount
of blood coming from pulmonary circulation. Physiological
anemia also contributes to CHF.
The size of VSD may be small or moderate known as
restrictive VSD or large one, is known as nonrestrictive
VSD.
Hemodynamically VSD is classified as per the size of
the defect and pulmonary arterial pressure known as
physiological classification of VSD.
1. Small defects: Normal pulmonary artery systolic
pressure.
2. Moderate defects: Pulmonary artery systolic pressure
is raised but less than LV pressure.
3. Large defects: Pulmonary artery systolic pressure equals
to LV pressure.
In other words restrictive VSD (small or moderate
defect) is defined when RV systolic pressure is less than
LV pressure and shunt is left to right (less than 2 to 1) and
nonrestrictive VSD (large defect) when RV, LV and
pulmonary artery systolic pressures are same and the shunt
is dependant on relative pulmonary vascular resistance
(PVR) and systemic vascular resistance (SVR). With low
pulmonary vascular resistance the shunt is usually more
than 2 to 1.
a. Hemodynamic of Small VSD
In small VSD there is normal involution of pulmonary
vasculature. A left to right shunt is established (pulmonary
flow is less than 1.5:1), which does not produce volume
overload of LV. The defect varies from 2-8 mm (average
6 mm) and when compared with aortic root it is less than
or equal to 1/3rd of its size. Multiple small VSDs in muscular
septum (sieve-like fenestration) are called Swiss cheese
VSD. They do not have significant hemodynamic effect.
There is significant pressure difference between the two
ventricles, so there is no tendency to develop increased
pulmonary hypertension and pulmonary vascular disease
in this setting of small VSD.
b. Hemodynamic of Moderate VSD
The size of the defect is about 10 to 15 mm and the diameter
is more than ½ but less than that of the aortic root. In other
words, the size is about 0.5 to 1 cm2 / m2 of body surface
in absolute term. Shunt flow is less than 2 to 1, but sufficient
to produce left sided volume overload. Right ventricular
 Ventricular Septal Defect
pressure is 3/4th of the aortic systolic pressure (peak
systolic pressure difference ≥ 20 mmHg, between the two
ventricles). Pulmonary vascular resistance is normal.
c. Hemodynamic of Large VSD
These nonrestrictive or large defects are about 15 to 30
mm in size. It is more or equal to that of aortic orifice,
usually more than 1 cm2/m2 of body surface in absolute
term. The systolic pressure of the two ventricles and
pulmonary artery are equal. However, the degree of shunt
depends on the relative resistance of the pulmonary and
systemic circulation. The rate of decline of high fetal PVR
is slow in patients of large VSD. In initial period increased
PVR acts as a protective mechanism against massive
shunting of blood through the lungs. A gradual decline in
PVR in first month of life in patients with large VSD, result
in augmentation of left to right shunt. When pulmonary
vascular resistance becomes low, i.e. less than half of SVR
it produces large left to right shunt (more than 2 to 1).
Large pulmonary flow returns to left side of heart causing
enlargement of LA and LV. This volume overload of LV
causes congestive heart failure in infants when other
compensatory mechanisms like myocardial hypertrophy,
increased sympathetic stimulation and Frank–Starling
effects fail. If the infant survives the crisis, gradually the
LV compensate by the above mechanism with symptomatic
improvement. As the RV pressure is equal to that of LV,
RV work is also increased producing RV hypertrophy. With
continued high pulmonary flow, gradually pulmonary
vascular disease sets in, curtailing left to right shunt. Volume
overload of LA and LV diminish, but at the same time RV
pressure load increases. Shunt becomes right to left when
PVR is more than SVR which gives rise to classic
Eisenmenger’s complex.
In some cases PVR is not decreased (fetal histology
pattern persists), in spite of large VSD, no shunt occurs
(no left sided volume overload), so no LA or LV enlargement
or no LV failure. Fetal histological pattern persist which
means the pulmonary arterioles do not involute and thick
smooth medial layer persists, therefore PVR remains high
after birth. With increasing PVR gradually right to left shunt
occurs and clinical pictures of Eisenmenger’s complex
become apparent even in late infancy or early childhood
period.
101
CLINICAL FEATURES
The clinical symptoms and signs are broadly divided into
two groups one group having small VSD and the other one
having moderate to large VSD.
Symptoms
Small VSD (Roger’s Disease)
These patients are asymptomatic. The clinical course is
benign throughout the infancy even upto old age, but they
are at risk for infective endocarditis, which is again rare
before age 2 years. Patients with small VSD have normal
growth, normal physical activities and lead a normal life.
Moderate to Large VSD
These patients may be symptomatic from very birth. Infant
is dyspneic irritable but becomes comfortable while held in
sitting posture. Dyspnea and diaphoresis occur during
feeding indicating presence of congestive heart failure. If
untreated some infants may succumb due to heart failure
and/or pneumonia but most of the infants gradually feel
better with medical management and grow with retarded
growth. Though symptoms of heart failure improves
beyond infancy some children develop dyspnea on effort
and recurrent respiratory infection, where as some become
almost asymptomatic during childhood. The possible
reasons for this asymptomatic group are either VSD has
closed or in closing stage or pulmonary vascular disease
has developed restricting pulmonary flow. Rarely pulmonary
flow may decrease giving rise to symptomatic improvement
secondary to acquired stenosis of RV infundibulum (Gasul
phenomena).
Signs
Small VSD (Roger’s disease)
These patients are often referred to a cardiologist for a
murmur (systolic) detected on routine examination or at
the time of an incidental illness. The murmur most often is
detected when the patient is between 2 to 6 weeks of age.
A murmur that is heard in the first 18 hours of life is seldom
due to VSD, but if the murmur persists after 4 months of
life it is commonly thought to be a VSD murmur.
 102 Clinical Diagnosis of Congenital Heart Disease
Patient’s growth and development is normal. Peripheral
pulses and blood pressure are within normal limit. Apical
impulse is normally felt. Normal precordial activity but a
systolic thrill over left upper sternal border is felt. First and
second heart sounds are normally heard. The normal
splitting of second sound is difficult to appreciate, because
of loud pansystolic murmur. Harsh pansystolic murmur
(grade 3-5/6), either plateau or crescendo-decrescendo type
is heard, over 3rd and 4th intercostal space on left sternal
border. It is also audible all over the precordium. When the
murmur and thrill is maximal at second intercostal space
on left sternal border and audible upto suprasternal notch,
sub-pulmonic VSD is clinically suspected. Muscular VSD
is suspected when a short early systolic murmur is audible
over left 4th intercostal space on parasternal border. This
murmur is not necessarily pansystolic due to closure of
the defect by interventricular muscular contraction in later
systole. Pansystolic murmur audible during infancy if
gradually disappears in later age there is high likelihood of
closure of VSD (in about 80% of cases).
Moderate to Large VSD
Patients with large VSD are usually symptomatic from
infancy. Some of them develop signs of congestive heart
failure. Some patients have typical appearance when trisomy
18 or 8, Down syndrome or Klippel-Feil syndrome is
associated. On examination pulse and blood pressure are
within normal limit, apical impulse is mostly of LV type
(forceful and localized). Systolic thrill is uncommon. First
heart sound is normally heard or increased. Second heart
sound is well split with P2 louder than A2. LV S3 is audible.
A pansystolic murmur of grade 2-3/6 is audible over left
second and third intercostal space on parasternal border.
Mid-diastolic murmur is audible over apical area, due to
large flow through a normal mitral valve.
Large VSD with Severe
Pulmonary Hypertension (Increased PVR)
The clinical scenario in this group is quite different from
that of large VSD without high PVR. Cyanosis develops
from early childhood and subsequently variable degree of
cyanosis is present depending on the magnitude of right to
left shunt. Clubbing appears when cyanosis persists for a
long time. These children complain of effort intolerance
without history of repeated chest infections. On examination
apex is of RV type, there is no thrill, precordium is silent.
First heart sound is loud, second heart sound is closely
split and P2 component is very loud (booming character); a
diastolic tap is felt (corresponds to loud P2). An ejection
click (pulmonary, related to dilatation of pulmonary artery)
is present all over the precordium. A short ejection systolic
murmur (not pansystolic) or sometimes no systolic murmur
is audible. Early diastolic murmur (due to pulmonary
regurgitation) over second, third intercostal space in left
sternal border may be present.
Spontaneous Closure of VSD
The precise mechanism of closure is not well understood.
Incidence of spontaneous closure varies. However, 25
percent of all perimembranous and trabecular VSD close
spontaneously by one year. Majority close by late infancy
and early childhood. Ultimately 70 percent of small
perimembranous and muscular VSDs close in due course.
When followed from birth the restrictive VSD closure is
about 50 percent or more before 2 years of age. About 5-
10 percent of large VSD also close by the same period.
Note: The Swiss-cheese VSD’s although small in size do not
close. Outlet and inlet VSDs rarely close spontaneously.
The mechanisms of spontaneous closure are:
1. Fibrosis of margins of defect with ultimate closure.
2. Adherent tricuspid valve cusp or aneurysm formation
that seals the defect.
3. Fistulus tract surrounded by reactive fibrosis.
4. Defects in the muscular portion of the septum close by
muscular hypertrophy.
5. Prolapse of an aortic cusp may close the sub-aortic
VSD.
INVESTIGATIONS
Electrocardiography
Small VSDs usually have normal ECG picture. Sometimes
a slightly deep S-wave in V1 or mildly increased R-wave in
V5, V6 is present, which indicate good LV force.
Large VSD—Electrocardiogram shows (i) QRS axis
usually inferiorly directed, (ii) left ventricular hypertrophy
(LVH) in most of the cases (iii) evidence of RV hypertrophy
 Ventricular Septal Defect
Fig. 13.3: ECG picture of VSD showing left axis, left atrial
enlargement (biphasic with broad negative component P) in
V1 and deep S waves in V1, V2 indicating left ventricular
hypertrophy
(RVH) may be present depending on pulmonary artery
pressure (tall R in V4R, V1 or V2), giving rise to combined
ventricular hypertrophy in form of large equiphasic
complexes in mid-precordial leads (Katz Watchtel pheno-
menon) and LA enlargement may be present (due to large
pulmonary blood flow) (Fig. 13.3). With development of
significant pulmonary vascular disease, left ventricular
hypertrophy regress and right ventricular hypertrophy
becomes more prominent.
In Eisenmenger’s complex—electrocardiographic
features are: (i) right axis deviation, (ii) RVH and (iii) in
some cases RA enlargement.
Radiography
The radiographic findings of VSD depend entirely on the
magnitude of the shunt. In small VSD cardiac size and
pulmonary vascularity are within normal limit. In moderate
to large VSD the features are (i) cardiomegaly of varying
grade with LV contour and evidence of LA enlargement,
(ii) RV and RA are enlarged when pulmonary hypertension
is significant, (iii) pulmonary vascularity is increased
suggestive of increased pulmonary blood flow. Vascular
markings extend upto outer third of the lung field, (iv)
budding of pulmonary artery segment seen due to dilatation
of MPA, (v) aortic shadow appears narrow and aorta looks
hypoplastic when compared to PA (Fig. 13.4).
Note: It is to be remembered that all four chambers and
pulmonary artery are enlarged but aortic shadow although
normal appears relatively narrow. When aortic arch is on right
side, it indicates VSD is associated with other congenital
cardiac anomalies.
103
Fig. 13.4: Chest X-ray showing cardiomegaly with LV contour,
left atrial enlargement and prominent main pulmonary artery
with increased vascularity
Features of Eisenmenger’s complex are: (i) heart size is
normal, (ii) RV and RA enlargement present (no LA or LV
enlargement), (iii) main pulmonary artery and its branches
are dilated, (iv) pulmonary vascularity in outer 1/3rd of
lung field is diminished called peripheral pruning (sudden
narrowing of dilated central pulmonary arteries).
Echocardiography
Echocardiography particularly, 2D echocardiography with
color Doppler mapping has almost replaced cardiac
catheterization and angiocardiography for routine diagnosis
of VSD. The main aim is to detect: (i) size and location of
the VSD, (ii) estimation of shunt flow (relative flow to
pulmonary and systemic circulation), (iii) pressure gradient
estimation across VSD to know interventricular pressure
difference, (iv) estimation of RV and PA pressure, (v) to
measure LA and LV diameter (vi) to determine ventricular
function and (vii) to ascertain associated defects.
M-mode echocardiography although not very
informative, LA and LV dimensions and function are often
measured by M-mode, sometime systolic fluttering of
tricuspid valve seen in m-mode is a very helpful clue for
presence of supracristal VSD. 2D echocardiogram is the
most important tool for measuring VSD size.
 104 Clinical Diagnosis of Congenital Heart Disease

The echocardiographic criteria to determine the size

of VSD are:
i. Large VSD is present when the size is approximately
same as diameter of aortic root
ii. The moderate size VSD, when the defect size is one-
third to two-third of the diameter of aorta
iii. The small VSD is diagnosed when the size of the defect
is less than 1/3rd of the diameter of aortic root
iv. Very small VSD is diagnosed usually by color Doppler
and the defect size is less than 5 mm in diameter.
Whole of the interventricular septum cannot be visualized
from a single window. Therefore it is necessary to examine
in multiple views. Parasternal long axis and basal short axis
demonstrate perimembranous defects adjacent to the aortic
valve and tricuspid valve respectively (Fig. 13.5A). Inlet
defects lie below both the AV valves which are best seen in
four chamber views either from apical or from subcostal
window. Outlet defects are seen in basal short axis view
adjacent to the aortic and pulmonary valves (Fig. 13.5C).
Depending on the location, trabecular VSD’s can be seen
in any of the long axis, short axis or four chamber views
(Fig. 13.5B). These trabecular or muscular defects are away
from semilunar or AV valves and usually surrounded by a
rim of septal muscle. Estimation of pulmonary and systemic
flows can be derived from the product of time velocity
integral obtained by pulse wave Doppler and cross sectional
areas at the site of flow (aorta or pulmonary artery).
Interventricular pressure gradient is measured by modified
Bernoulli equation from the velocity of flow across the VSD
(Fig. 13.6). The interventricular gradient is inversely
proportional to the size of the VSD and pulmonary arterial
pressure.

Magnetic Resonance Imaging (MRI)

Gated MRI provides excellent anatomical diagnosis of VSD
as well as other associated cardiac malformations. Cine
MRI gives functional assessment of wall motion and shunt
flow.
Radionuclide studies help in detecting left to right shunt
and magnitude of the pulmonary to systemic flow ratio.
Figs 13.5A to C: Echocardiogram showing (A) Arrow
Cardiac Catheterization and indicating a large perimembranous VSD in short axis.
Angiocardiography (B) Arrow indicates large muscular VSD in 4-chamber
view. C–short axis showing large outlet VSD (A and B)
Now a days catheterization is not advised routinely, only in Courtesy—Dr PK Dash, SSSIHMS, Bangalore,
ill-defined echocardiographic information it is necessary. C—Dr BK Mahala, Narayana Hrudayalaya, Bangalore)
 Ventricular Septal Defect
Fig. 13.6: Echocardiogram of a perimembranous VSD left panel
shows color flow from LV to RV in parasternal long axis with
CW Doppler interrogation below showing the gradient across
VSD, right panel shows similar findings in short axis (Courtesy:
Dr SK Sahoo, Cuttack)
Small VSD’s do not require catheterization. The main
purposes of this invasive procedure are: (i) to delineate
clearly the number and location of VSD’s present, (ii)
estimation of magnitude of shunt, (iii) estimation of PVR
for surgical risk assessment and for ultimate prognosis,
(iv) to estimate ventricular function, (v) to document the
presence or absence of associated defects, mainly persistent
left superior vena cava which is important before surgical
procedure. The most important information obtained by
catheterization is estimation of pulmonary vascular
resistance. The right and left heart catheterization helps in
estimation of oxygen saturation in all chambers. Oxygen
step up (10%) in RV indicates presence of VSD.
Note: Conditions giving rise to increased oxygen saturation
in RV in presence of an intact interventricular septum are: (i)
PDA with PR, (ii) coronary AV fistula communicating to RV,
(iii) aorto RV fistula and (iv) rupture of sinus of Valsalva
aneurysm into RV.
In case of elevated pulmonary vascular resistance
100 percent oxygen inhalation is given (injection of tolazoline
or isoproterenol are also used) into pulmonary artery
thereafter repeated measurement of flow and pressures taken
to determine any change in PVR (decreased or not). If it
decrease less than 7 U/m2 surgery is indicated.
LV angiocardiography documents the number and
location of VSD’s and help in intraoperative localization of
105
all defects. Aortogram is required for detection and esti-
mation of degree of aortic regurgitation when present. Axial
cine angiography sometimes better delineate anatomy of
the septum which is helpful for the surgeon.
DIAGNOSIS
Relatively asymptomatic patients having no cyanosis, a well
palpable systolic thrill and a harsh pansystolic murmur
maximally heard over third and fourth left sternal border,
lead the physician to make a bedside diagnosis of small
ventricular septal defect. When a patient is symptomatic
from early infancy and on examination findings of LV apex,
loud S2 with P2 more than A2, a long systolic murmur grade
3-4/6 over third and fourth left sternal border and with a
flow mid diastolic murmur over apex, the physician thinks
of a large VSD. ECG showing LVH or biventricular
hypertrophy, radiological features of cardiomegaly with LA
and LV enlargement, increased pulmonary vascularity and
prominent MPA go in flavor of large VSD. 2D echocardio-
graphy with Doppler confirms the type and hemodynamic
status of all types of VSD.
DIFFERENTIAL DIAGNOSIS
In Infants
Anomalies presenting with features of large shunt without
cyanosis, signs of CHF and a systolic murmur come under
differential diagnosis. They are complete AV canal defect,
AP window, single ventricle without PS, DORV without
PS, persistent truncus arteriosus and large PDA. Presence
of definite cyanosis exclude condition like single ventricle
and truncus arteriosus. All these anomalies usually masque-
rade the symptoms and signs of VSD, making it difficult to
diagnose clinically without the help of investigations,
particularly 2D echocardiography with color Doppler.
Sometimes cardiac catheterization and angiocardiography
are necessary to pin point the diagnosis.
In Children and Adults
The following common conditions come as differential
diagnosis.
1. Pulmonary stenosis (mild to moderate)
2. Aortic stenosis (mild to moderate)
3. Functional (innocent) systolic murmurs.
Pulmonary stenosis is clinically differentiated by the
presence of ejection click and ejection systolic murmur
 106 Clinical Diagnosis of Congenital Heart Disease
over pulmonary area, ECG shows RA and RV enlargement,
X-ray shows post-stenotic dilatation of pulmonary artery
with normal vascularity. In aortic stenosis presence of ejec-
tion systolic murmur over aortic area which is also audible
over left parasternal border (second aortic area) upto apex
confuse with VSD. But ejection click (aortic) and ejection
systolic murmur heard over aortic area that is conducted
to neck vessels give the diagnosis of valvular aortic stenosis.
Functional murmurs are vibratory ejection systolic murmurs
having no thrill and usually the intensity of the murmur is
within grade 2-3/6. These murmurs change with posture,
so easily differentiated from organic murmurs. However
2D echo with color flow Doppler give the final diagnosis.
COMPLICATIONS
Small VSD
The only complication in small VSD is infective endocarditis,
mainly beyond 2 years of age.
Large VSD
Complications in Large VSD are (i) CHF, (ii) arrhythmias,
(iii) infective endocarditis, (iv) Eisenmenger’s complex.
Because of Eisenmenger’s complex hemoptysis, anginal
pain, paradoxical embolism and brain abscess are other
complications.
NATURAL HISTORY
1. Patients may remain asymptomatic throughout their lives
with small or moderate defect.
2. The defect may close or decrease in size. The clinical
evidence of decrease in size is associated by relief of
symptoms, decrease cardiac size in roentgenography
and regression of LVH in ECG.
3. During infancy or childhood about 5 percent of patients
of moderate to large VSD may develop RV infundibular
stenosis resembling TOF in later life, which is known
as Gasul’s phenomenon.
4. CHF occurs with large defect, common in infancy.
5. In some cases the VSD size may increase as the child
grows, leading to worsening of hemodynamic para-
meters.
6. Pulmonary hypertension and pulmonary vascular disease
may develop leading to Eisenmenger’s complex.
7. Aortic regurgitation may occur between 2 to 10 years
of age in about 5 percent of cases particularly in a setting
of high VSD (outlet type), due to improper support of
one or more of the aortic cusps (usually right coronary
cusp).
8. Some patients of large VSD develop different types of
arrhythmias in course of time.
9. Infective endocarditis is one of the principal hazards
and life threatening complication for all types of VSD.
PROGNOSIS
Most of the patients of small VSD are asymptomatic with
normal growth and normal physical activities. They do not
develop pulmonary hypertension or pulmonary vascular
disease. There is no hemodynamic burden at any age group.
They lead a normal life barring the risk of infective
endocarditis. Isolated VSD are infrequently seen in adults
as most of the small VSD’s close spontaneously in early
childhood. The multiple small defects in the muscular septum
termed as Swiss cheese VSD, although belong to this group
ordinarily they do not close. The amount of left to right
shunt in Swiss cheese defect is small, so there is no
hemodynamic burden.
Patients of large VSD are symptomatic from infancy
with congestive heart failure and repeated chest infection.
Significant numbers of infants do not respond to medical
management and 4/5th of them die within 1st year unless
surgical or device closure of VSD is performed. Those
who survive the crisis show clinical improvement. If closure
(device or surgical) is not possible latest by 1st decade
(preferably within 2 years) many of these survivors develop
progressive pulmonary vascular disease leading to
Eisenmenger’s complex and die by 4th decade.
GUIDELINES FOR MANAGEMENT
Medical Management
Patients having small VSD remain asymptomatic and no
specific medical care or surgical intervention is necessary.
They lead almost a normal life only they need infective endo-
carditis prophylaxis. Recently in some centers device closure
(Clamshell double Umbrella, Amplatzer device) has started
in order to prevent the deadly complication, infective
endocarditis. Otherwise surgery is not indicated in small
VSD with Qp/Qs<1.5:1.
 Ventricular Septal Defect
Patients having large VSD require general medical advice
to take adequate calories to gain weight. If mild congestive
heart failure is present domiciliary treatment may be advised.
Infants with severe or persistent congestive heart failure
are advised hospital care, particularly ICU care is necessary.
Respiratory distress is managed with endotracheal intuba-
tions and mechanical ventilators if necessary. Conventional
decongestive therapy is advised mainly with digoxin, and
diuretics, besides ACE inhibitors are also used. Electrolyte
imbalance is corrected and inotropic agents (dopamine and
dobutamine) are used in cases of persistent hypotension.
Oxygen inhalation is advised judiciously in order to prevent
its own adverse effect. Infants and children presenting with
Eisenmenger’s syndrome need only palliative treatment for
relief of symptoms.
Surgical Management
Surgery is indicated in all large VSD and symptomatic
moderate VSD. Serial ECG and echocardiogram may help
in measuring hemodynamic progression and decide timing
of surgery. RV and LV systolic pressures decide the line of
management, if RV pressure is 50 percent or less than
systemic pressure, medical therapy may be continued till
the patient is stable for surgery. Infants weighing more
than 2 kg are suitable for surgery. Pulmonary artery banding
is advised only in selected cases when the infant is critically
ill or presents with gross CHF. Persistent CHF in spite of
medical management is also an indication for surgery.
Surgery is denied in patients with a pulmonary to systemic
resistance ratio of > 0.5 or when there is Eisenmenger’s
situation (right to left shunt). Closure of VSD under
cardiopulmonary bypass is carried out preferably through
atrial approach. There is growing trend in different centers
107
for catheter device closure of all types of VSDs with
collaboration of both cardiologist and cardiac surgeon.
SALIENT FEATURES
Small VSD
1. These patients are asymptomatic. Majority of
perimembranous and muscular VSD close
spontaneously.
2. Loud pansystolic murmur with thrill at left sternal border
(third and fourth intercostal space) with normal heart
sound without cardiomegaly clinically indicate small
VSD.
3. Echocardiography confirms the diagnosis by
delineating the site, size and type of VSD with a very
high gradient across the defect.
Large VSD
1. Infants are symptomatic because of high pulmonary
flow, in the form of CHF and respiratory infection.
2. Second sound is closely split with loud P2 and LV S3,
pansystolic murmur 2-3/6 over left sternal border (third
and fourth space) are present with a mitral diastolic
flow murmur.
3. ECG shows LVH or biventricular hypertrophy.
4. X-ray shows cardiomegaly with LV contour, LA
enlargement and pulmonary plethora.
5. Echocardiogram with color Doppler delineates the site,
size, type of VSD with flow across the defect (peak
gradient is inversely proportional to the size), and it
also assess PA pressure.
6. Complicated VSDs require cardiac catheterization and
angiocardiography before surgery.
7. Uncorrected cases develop CHF, if survive go for
Eisenmenger’s syndrome. In a minority spontaneous
closure, development of RVOT obstruction or AR is
seen.
8. Besides decongestive therapy early closure (surgical
or nonsurgical) is advised.
 108 Clinical Diagnosis of Congenital Heart Disease
Ventricular Septal Defect with Aortic Regurgitation
INTRODUCTION
Ventricular septal defect (VSD) with aortic regurgitation
(AR) is a well-known entity. In a pre-existing VSD, AR
develops in early childhood, usually after two years of age
due to prolapse of one or more aortic leaflet.
HISTORY
It was first described by Breccia in 1906 in Italian literature.
Subsequently Laubry and Pezzi described it in detail in 1921.
INCIDENCE
The incidence of AR is 5 to 8 percent among patients with
all types of VSD. But the incidence is much higher in outlet
type of VSD. Recently there is an increased incidence of
AR with VSD, which is most probably because of improved
method of early diagnosis. In Asian countries particularly
in Japan incidence of AR with VSD is as high as 30 percent,
because outlet VSDs are relatively common. Male
predominance is seen with 2:1 ratio.
ABNORMAL ANATOMY
VSD with AR was classified by Van Praagh and
Mc-Nammara into two types according to autopsy findings:
I. Subcristal type (perimembranous)
II. Supracristal type (outlet).
The perimembranous VSD’s are located immediately
below the commissure in between the non-coronary cusp
(NCC) and the right coronary cusp (RCC) of aortic valve.
Herniation or prolapse of one or both cusp occurs in course
of time because of lack of support (Fig. 13.7). In outlet
type of VSD, both aortic and pulmonary valves form the
roof of the defect, due to lack of support right as well as
left coronary cusp prolapse to right ventricular outflow
tract (RVOT) causing AR and occasionally RVOT
obstruction. These cusps are usually anatomically normal.
But when remain in prolapsed stage gradually become
BR Mishra
Fig. 13.7: Schematic diagram of VSD with AR, right coronary
cusp of aortic valve is prolapsing to RVOT through a sub-
aortic VSD (thin arrow), bold arrow indicates aortic regurgitation
(Ao—aorta, PA—pulmonary artery, RA—right atrium, LA—left
atrium, LV—left ventricle, RV—right ventricle)
thickened and deformed, subsequently rolling of valve
margins results in progressive AR.
HEMODYNAMICS
AR gradually progresses in severity over a period of years
so the hemodynamic burden increases on left ventricle. In
setting of VSD, volume overload due to AR adds to the
extra hemodynamic burden. When the prolapsed cusp is
herniated into VSD, the defect becomes smaller but it
occurs at the cost of increasing AR. In case of
perimembranous VSD only a small left to right shunt may
persist in presence of significant AR. Pulmonary flow varies
depending on the size of the shunt and the degree of RVOT
obstruction.
CLINICAL FEATURES
Children having mild to moderate VSD with AR remain
almost asymptomatic till late teenage. They become
symptomatic with gradual awareness of pulsation over neck
area, palpitation, exertional dyspnea and fatigability.
 Ventricular Septal Defect with Aortic Regurgitation 109

SIGNS
On examination apical impulse is LV type (forceful and
localized), left parasternal heave may be present because
of RV force when there is RVOT obstruction and a systolic
thrill is present due to VSD. Peripheral signs (Quincke’s
sign, Traube’s sign, de Musset’s sign, Corrigen’s sign,
Hill’s sign and Duroziez’s sign) of high pulse pressure
indicate significant AR. The pulse may be bisferiens type.
On auscultation first sound is normally heard, second sound
is normally split with loud P2, pansystolic murmur grade 4
– 5/6 is audible over left sternal border and an early diastolic,
high frequency, decrescendo murmur (length of the
murmur proportional to severity of AR) is also audible over Fig. 13.8: Echocardiogram in VSD and AR, left panel shows
left sternal border. Although these two murmur appear as mosaic jet of color flow from left ventricle (LV) to right ventricle
continuous but it is a systolic and diastolic (to and fro) (RV) below aorta in parasternal long axis indicating a
perimembranous VSD (arrow). In right panel arrow shows
murmur, not continuous one. A mid diastolic murmur may
presence of aortic regurgitation (AR). Ao—aorta, LA—left
be present over apex due to increased blood flow through atrium (Courtesy: Dr SK Sahoo, Cuttack)
a normal mitral valve or an Austin Flint murmur may be
heard secondary to AR. Cardiac Catheterization
Diagnostic cardiac catheterization is not required, it is mainly
INVESTIGATIONS indicated prior to surgery to know coronary arterial
anomalies and other associated defects if suspected. Oxygen
Electrocardiography
saturation is increased at RVOT level. Systemic saturation
Electrocardiogram shows deep S in V1 and tall R with deep is normal. A gradient may exist between RV and pulmonary
and narrow q in left precordial leads (V5, V6) indicating artery due to RVOT obstruction. LA pressure or pulmonary
significant LVH (volume overload pattern) disproportionate wedge pressure is increased in late stage of chronic severe
to shunt which indirectly suggest presence of AR besides AR but pulmonary vascular resistance is normal. Retrograde
VSD. aortography indicates the severity of AR and LV angio
delineate the site and the size of VSD.
Radiography
DIAGNOSIS
Radiological pictures are normal when both VSD and AR
These children remain asymptomatic for long period.
are mild. Disproportionate degree of LV enlargement due
Palpitation and dyspnea occurs with moderate exertion. On
to AR with only mild increase in pulmonary vascularity
examination systolic thrill, second heart sound normally
(left to right shunt is not significant) usually present in cases
split and pansystolic murmur with an early high pitched
of AR with VSD. Ascending aorta is dilated in contrast to
decrescendo diastolic murmur over left sternal border, give
similar sized VSD alone.
the clinical diagnosis of VSD with AR. ECG shows LVH
with left atrial enlargement. However the diagnosis is
Echocardiography confirmed by 2D echo with color Doppler imaging.
It clearly delineates the site and the size of the VSD
(perimembranous or outlet VSD) with prolapse or herniation DIFFERENTIAL DIAGNOSIS
of the cusp or cusps involved. The presence and degree of Diseases having continuous or to and fro murmurs
AR is accurately estimated by color Doppler flow imaging particularly with high pulse pressure come under differential
(Fig. 13.8). diagnosis. They are PDA, rupture of sinus of Valsalva
 110 Clinical Diagnosis of Congenital Heart Disease
aneurysm, A-P window, coronary AV fistula and aortico
LV tunnel.
PDA is characterized by continuous murmur which
peaks around P2 with eddies sounds. It is better audible
over left first intercostal space and left infraclavicular area.
Rupture of sinus of Valsalva aneurysm is suspected
from the history of sudden onset of symptoms, following
physical exertion usually in a young adult. The murmur is
continuous, rough and superficial, which is easily
differentiated from that of VSD with AR
Aortico-LV tunnel patients are early symptomatic. The
physical finding are like VSD with AR with a, to and fro
murmur but the diastolic component is longer, louder as
compared to the systolic murmur which is ejection systolic
type unlike VSD. However 2D echocardiography with
Doppler flow imaging confirm the diagnosis in all these
conditions.
COMPLICATIONS
The common complications are congestive heart failure
and infective endocarditis. Infective endocarditis is a deadly
complication that occurs at any age groups.
NATURAL HISTORY
Aortic regurgitation is not present with VSD from infancy.
VSD is present from birth while AR develops at a later age
and progresses gradually. After about 2 years of age it
becomes clinically evident. In a few cases AR may develop
rapidly during early childhood giving rise to congestive heart
failure. In these cases prognosis is poor without surgery.
Follow up ECG and echocardiography are mandatory
to assess the progress of AR and pulmonary arterial
pressure. The patient is subjected to surgery before
development of severe AR and increased pulmonary vascular
resistance.
GUIDELINES FOR MANAGEMENT
Medical Management
There is no specific medical management. If congestive
heart failure is present is managed with conventional anti
failure drugs (digoxin and diuretics). Infective endocarditis
prophylaxis is advised. Repeated chest infection is treated
with suitable antibiotics.
Surgical Management
The first surgical correction was done by Gyramella in
1960. Infants with persistent congestive heart failure and
or prolapse of aortic cusp are advised early surgery. Once
AR develops even if the shunt at VSD level is less than 2:1
early surgical closure of VSD is advised, to prevent further
prolapse. If AR is moderate to severe either valvuloplasty
(aortic valve repair) or valve replacement is advised besides
closure of VSD.
SALIENT FEATURES
1. Asymptomatic elderly children or adolescents with
known small to moderate VSD when develop well
visible neck pulsation indicate appearance of significant
AR.
2. AR is caused by prolapse of one or more cusps through
the VSD. It is more common in outlet VSD and is also
progressive. It is diagnosed by presence of an early
decrescendo diastolic murmur over LPSB along with a
pansystolic murmur of VSD.
3. Echocardiogram with color Doppler confirms the
diagnosis showing prolapse of aortic cusp or cusps
into VSD and assessing the degree of AR.
4. These patients are advised early surgery.
 Ventricular Septal Defect with Pulmonary Stenosis 111

Ventricular Septal Defect with Pulmonary Stenosis

M Satpathy

INTRODUCTION amyl nitrate inhalation was used to differentiate this

Large ventricular septal defect (VSD) with mild to moderate
pulmonary stenosis (PS) and predominant left to right shunt
is not an uncommon congenital anomaly. It is distinctly
different from that of tetralogy of Fallot (TOF).
It occurs in about 1 to 2 percent of all congenital heart
diseases.
condition from isolated valvular pulmonary stenosis. VSD
with PS murmur does not increase whereas PS murmur is
significantly increased during amyl nitrite inhalation.
Note: Although a prominent systolic thrill and systolic murmur
are present from infancy, the infants may remain absolutely
asymptomatic and grow normally upto adulthood.

ABNORMAL ANATOMY INVESTIGATIONS

Usually there is perimembranous type of VSD of varying
Electrocardiogram shows evidence of biventricular enlarge-
size (0.5-1.5 cm). The obstruction to RV outflow is mainly
ment (Fig. 13.9) or in some cases only right ventricular
at infundibular level. As embryologically it is not a
hypertrophy. Radiological features show cardiomegaly (LV
malalignment type of VSD, there is no overriding of
and RV are enlarged). Main pulmonary artery is normal
aorta which differentiates it from TOF (acyanotic or
(13.10). In some cases right-sided aortic arch is present.
cyanotic).
2D echocardiography with color Doppler mapping gives
There is a significant gradient at RVOT level, right
the exact site and size of VSD and the type and severity of
ventricular pressure increases but does not exceed that of
pulmonary stenosis (Fig. 13.11). Cardiac catheterization is
left ventricle. The obstruction is not progressive unlike TOF
no more a routine procedure. However cardiac
and acyanotic TOF. A left to right shunt always persists
catheterization is indicated before surgery. It shows oxygen
giving rise to LV volume overload pattern.
step up in RV with pressure gradient across RVOT. Selective
CLINICAL FEATURES
Clinical features resemble that of small VSD (not of large
VSD) because pulmonary flow is curtailed by RVOT
obstruction or sometimes like acyanotic TOF. These
patients remain asymptomatic for a long time. There may
be growth retardation with some kind of chest deformity.
Symptoms of repeated chest infection, exertional dyspnea
and fatigability may be present when left to right shunt is
large. Cardiac impulse is felt at lower left sternal border
(RV type). A systolic thrill may be palpable over third and
fourth left sternal border (due to VSD).
On auscultation first heart sound is normally heard,
second heart sound very often widely split with P2 is
decreased in intensity. Ejection click is unusual as PS is
infundibular. Ejection systolic murmur (3-4/6) is audible Fig. 13.9: ECG of VSD with PS showing evidence of
all over precordium. In some cases apical diastolic flow biventricular hypertrophy (tall R in V1 with good LV force in V5,
murmur is also audible (when VSD is large). In the past, V6)
 112 Clinical Diagnosis of Congenital Heart Disease
Fig. 13.10: X-ray of VSD with PS showing cardiomegaly, RV
contour, MPA not prominent with decreased vascularity
angiocardiogram of RV shows infundibular chamber
narrowing and LV angio outlines the size and site of VSD.
DIAGNOSIS
Asymptomatic acyanotic infants grow normally to
adulthood with very prominent signs of systolic thrill and a
harsh ejection systolic murmur over third and fourth sternal
border. Wide splitting second heart sound and no ejection
click with ECG evidence of biventricular hypertrophy
(mainly RVH) go in favor of VSD with PS. Echo showing
evidence of large VSD with infundibular stenosis gives the
final diagnosis.
DIFFERENTIAL DIAGNOSIS
The following conditions come under differential diagnosis
of VSD with PS, they are small VSD, pure infundibular
stenosis, acyanotic TOF.
Small VSD (Roger’s disease) present with systolic thrill
and pansystolic murmur but S2 not widely split. No ejection
click is audible unlike VSD with PS. No chamber
enlargement occurs in ECG, as it is seen in this condition.
Pure infundibular stenosis: It is an extremely rare clinical
condition. Murmur of RVOT stenosis is heard little lower
(3rd space in left sternal border). No post stenotic dilatation
is seen in X-ray.
B
Figs 13.11A and B: Echocardiography of VSD with PS
(A) Showing perimembranous VSD (arrow) in parasternal long
axis on left panel, right panel shows color flow across VSD,
(B) CW Doppler across RVOT shows significant gradient
indicating pulmonary stenosis
Acyanotic TOF: Although cyanosis is not apparent it
does occur on exertion. No systolic thrill is present unlike
VSD with PS. Pulmonary second sound is diminished.
Biventricular enlargement is not present. 2D echocardio-
graphy with Doppler clearly differentiates these conditions.
GUIDELINES FOR MANAGEMENT
When both lesions are mild these patients remain
asymptomatic. Infective endocarditis prophylaxis is advised.
They require only symptomatic treatment.
Surgery is advised during early childhood period even
the patient is asymptomatic. Closure of VSD and correction
of RVOT obstruction is done. The surgical procedure
depends on the type and severity of obstructions. Many
times the type of surgery for pulmonary stenosis is decided
on the operation table.
 Left Ventricle to Right Atrial Communication 113

Left Ventricle to Right Atrial Communication

M Satpathy

SYNONYM
Gerbode shunt, left ventricular—right atrial canal.

DEFINITION
It is characterized by a defect in the atrioventricular portion
of the membranous septum resulting in direct communi-
cation between left ventricle (LV) and right atrium (RA).
This anomaly differs from endocardial cushion defect or
AV canal defect although there is LV to RA shunt.
Perry classified this anomaly into four groups as per
anatomical situation of communication between LV and
RA. But commonly two types of communications are seen
Fig. 13.12: Schematic diagram of LV to RA shunt. Arrow
in clinical practice:
indicates defect in the atrioventricular part of membranous
a. Shunt occurs at the upper portion of the membranous septum
part of the interventricular septal defect, which is at the
level of the right atrium (because anatomically tricuspid overload of all chambers occur. The hemodynamic changes
valve is lower than mitral valve) (Fig. 13.12). depend on the size of the shunt.
b. The communication is established through peri-
membranous VSD and a cleft in the septal leaflet of CLINICAL FEATURES
tricuspid valve. When the shunt is significant, the infant is symptomatic in
form of tachycardia and tachypnea.
HISTORY On auscultation second heart sound is consistently split,
Thurnman first mentioned LV to RA communication in P2 is not loud because pulmonary arterial pressure is usually
1838. Gerbode in 1958 described it in detail and this defect normal. A pansystolic murmur is present on both sides
goes by his name as “Gerbode Shunt”. of the sternal border (even audible in utero). A
prominent systolic murmur is present from birth, because
INCIDENCE the pressure difference between LV and RA is significant
unlike VSD. The murmur of VSD is absent at birth, which
It is a rare anomaly, having equal sex distribution.
appear later with fall of neonatal pulmonary vascular
HEMODYNAMICS resistance. In some cases diastolic murmur over apex is
audible due to increased flow through normal mitral valve.
The hemodynamic picture resembles partly as VSD and
partly as ASD. Saturated blood in systole pushed from LV INVESTIGATIONS
to low pressure RA chamber then to right ventricle (RV)
Electrocardiography
and pulmonary artery (PA). Increased pulmonary circulation
leads to increased pulmonary venous return, giving rise to Biatrial enlargement and biventricular hypertrophy is present.
left atrial (LA) and LV volume overload. In this way, volume Right axis deviation, right atrial enlargement (tall peaked P
 114 Clinical Diagnosis of Congenital Heart Disease
in lead II), Incomplete RBBB pattern (rsR in V1, V2) and
tall R in V5 and V6 are present.
Radiography
Radiological finding of huge RA combined with LV
enlargement give ball shaped appearance, which is a very
striking feature of this anomaly (confused with Ebstein’s
anomaly).
Echocardiography
Echocardiography with color Doppler imaging detect the
peri-membranous VSD and a shunt from LV to RA in apical
four chamber view. In addition it detects volume overload
of all four cardiac chambers.
Cardiac Catheterization
Hemodynamic findings of increased oxygen saturation in
RA (without ASD), increased PA pressure with normal
PVR and a gradient between LA and RA, indicate presence
of LV to RA shunt. The catheter cannot be passed from
RA to LA, but easily enters to LV. LV angio shows early
opacification of RA.
DIAGNOSIS
Acyanotic neonates or infants having prominent systolic
murmur over precordium from birth (even audible in utero)
better heard on right side of the sternum with RV and LV
overload pattern, ECG showing RA enlargement and LVH
and radiological findings of huge RA give the clinical
diagnosis of LV to RA shunt (Gerbode shunt). Echocardio-
graphy confirms the diagnosis.
DIFFERENTIAL DIAGNOSIS
The clinical conditions come under differential diagnosis
of LV to RA shunt, are:
1. VSD with TR
2. Aneurysm of sinus of Valsalva rupturing into RA.
Clinically difficult to distinguish VSD with TR from LV
to RA shunt. Typical history of rupture sinus Valsalva and
the characteristics harsh, superficial and continuous murmur
easily distinguishes it from LV to RA shunt. It is echo-
cardiography with color Doppler imaging settles the
diagnosis.
GUIDELINES FOR MANAGEMENT
There is no specific medical management except sympto-
matic treatment and infective endocarditis prophylaxis.
Congestive heart failure may occur in adult if the lesion is
not surgically corrected. In these cases decongestive therapy
is advised. Surgery is the only remedy. Surgical repair is
advised as soon as the defect is detected irrespective of
age.
 14 Patent Ductus Arteriosus
M Jayarajah, M Satpathy

DEFINITION
Patent ductus arteriosus (PDA) is the most common type
of extra cardiac shunt seen in clinical practice. It represents
persistent patency of the vessel that normally connects the
pulmonary artery and the aorta in fetus (Fig. 14.1). When
the ductus remains patent even after three months of birth
in an infant born at term, is called persistent or patent ductus
arteriosus.

HISTORY
Galen, the second century physician, was aware of presence
of a connecting vascular channel, which was later on
thought to be a ductus. The postnatal closure was first
described by Highmore in 1651, a close friend of William
Harvey, who demonstrated the importance of ductus in
fetal life. Gibson in 1900 described for the first time the
typical continuous murmur of PDA. First PDA ligation
surgery was done by Robert E. Gross at Boston in 1938
and first catheter closure of PDA was by Rashkind and
Cuaso in 1971.
INCIDENCE
PDA accounts for 10 to 12 percent of all varieties of
congenital heart diseases, excluding in premature infants.
The incidence of PDA is high in infants born with low
birth weight; with rubella syndrome and at high altitude.
Two third cases of premature infants weighing less than
1.5 kg and almost all weighing less than 1 kg have PDA,
which persists for days to months. Female preponderance
is seen with ratio of 2:1.
EMBRYOLOGY
The ductus arteriosus is derived from the sixth aortic arch.
On the left side of the sixth aortic arch, the connection
Fig. 14.1: Schematic diagram, arrow showing a large patent
ductus arteriosus communicating from aorta to pulmonary
artery with left atrial (LA) and left ventricular (LV) enlargement
(AO—aorta, RA—right atrium, RV—right ventricle, PA—pulmo-
nary artery)
between the pulmonary artery and aorta persists, which is
known as ductus arteriosus, but on the right side this
connection to dorsal aorta regresses and disappear in fetal
life. The ductus is interposed between the proximal portion
of the left pulmonary artery and the beginning of the
descending aorta, just distal to the left subclavian artery.
This vascular channel starts functioning from 6th week
and remains open throughout the fetal life, which plays an
important role by providing a communication between the
pulmonary and systemic circulation. The ductus connects
with aorta in an acute angle (about 35 degrees) in the fetal
life, which persists till neonatal period. If the aortic arch is
 116 Clinical Diagnosis of Congenital Heart Disease
right sided, the ductus may also persists on the right side.
In this situation, it connects the right pulmonary artery to
right aortic arch just distal to right subclavian artery.
ABNORMAL ANATOMY
In the neonatal period, the duct size and shape varies greatly
from case to case. It may be long and narrow or short and
wide. Usually the ductus is conical in shape because closure
starts from the pulmonary end, the aortic end is dilated
known as ductus ampulla or ductus “bump”. The average
length of the ductus is about one centimeter (1 cm) and the
width varies from 0.2 cm to 2 cm. In fetal life, the diameter
of the duct is almost equal to the diameter of the descending
aorta and in neonatal period it is approximately one-half of
it. Anatomical variations of the duct are, it may be on right
side, the duct may be absent or there may be two ducti,
one on each side or both may be on one side. The aortic
end which is as wide as descending aorta, if persists after
birth is known as “Window ductus”.
MECHANISM OF DUCTAL CLOSURE
Once the baby is born at full term starts crying and takes
breath, the collapsed fetal lungs expand and pulmonary
circulation starts functioning. The venous blood from right
atrium goes to right ventricle, passes through pulmonary
arteries to lungs, where it get saturated and return to left
atrium through pulmonary veins and subsequently go to
systemic circulation. Ductus arteriosus which was an
essential channel in fetal life, because it was carrying all
most all venous blood from the main pulmonary artery to
descending aorta, then to lower limbs and to placental
circulation, is no more needed. In normal course the ductus
starts closing from the very first day of life. Functional
closure starts by 12 hours and becomes complete in most
of the cases within 24 hours. In some cases it may be
delayed for, 2-3 days more and on occasional cases closure
may take up to 3 months. In premature infants, it is delayed
for some weeks to 3 months and in some premature infants
it may take one year for closure of ductus.
When ductus starts closing the thickened internal layer
is being pressed by contraction of the smooth muscles of
the medial layer. Then in folding of the endothelium occurs
due to migration of medial smooth muscles into the thickened
intima. This leads to necrosis of the inner wall, caused by
anoxia. This process is completed by dense fibrosis, causing
complete closure and converting the duct to a ligamentus
structure.
Note: The histology of medial layer of the ductus arteriosus is
different as compared to other arteries including aorta and
pulmonary artery. The media of ductal artery consists of spirally
arranged smooth muscles and increased content of hyaluronic
acid; where as media of other arteries consist of elastic fibers.
The closure of ductus arteriosus mainly involves a
complex interaction of increased oxygen tension in the
blood and reduction in circulating and locally produced
vasodilating prostaglandin. The prostaglandin inhibitors play
important role for constriction of the ductus. Increased
level of acetylcholine, bradykinin and endogenous
catecholamines also play some role for constriction of the
duct.
The underlying mechanism of delayed closure of ductus
are decreased PO2 due to any cause mainly respiratory
disease and increased concentration of circulating PGE2.
For this reason, the incidence of ductus is about three times
greater at high altitude and also high in premature or low
birth weight infants. After birth to keep a prematured baby
alive, the fluid balance, ventilator support, drugs, photo-
therapy indirectly help to keep the duct patent. Intrauterine
closure of ductus is mainly due to inhibition of prostaglandin,
which cause fetal congestive cardiac failure and intrauterine
death.
HEMODYNAMICS
The magnitude of the shunt across the ductus is determined
by three parameters (1) pressure relation between the aorta
and pulmonary artery (2) the size (cross sectional area)
and length of the duct, (3) difference in resistance between
the systemic and pulmonary circulation.
Hemodynamic Classification of PDA
PDA is classified according to the degree of pulmonary
arterial hypertension (PAH).
1. PDA with PAH
2. PDA with severe PAH but no reversal of shunt
3. PDA with PAH and reversal of shunt
According to amount of left to right shunt PDA is
classified as small, moderate or large. When pulmonary to
systemic flow ratio is less than 1.5:1, it is small shunt, flow
 Patent Ductus Arteriosus
ratio of 1.5 to 2.5 is moderate and more than 2.5 to 1 is
called large shunt. Duct diameter less than 3 mm is
considered as small one.
Normally after birth the pulmonary vascular resistance
falls due to expansion of both lungs but systemic vascular
resistance is increased due to elimination of low resistance
placental circulation. The fetal blood flow from pulmonary
artery to aorta is reversed in neonatal period, so a left to
right shunt starts functioning across the ductus that is from
aorta to pulmonary artery. As the aortic pressure remains
higher than pulmonary artery pressure throughout the
cardiac cycle, a continuous left to right shunt is established.
Excess blood through the ductus goes to pulmonary arteries
and then to lungs, then comes to PV to LA to LV and then
to aorta and from aorta again goes to the ductus. When
PDA is small, a continuous left to right shunt is present but
there is no PAH and there is no hemodynamic burden, LA
and LV size remains normal. With moderate shunt and no
PAH, there occurs significant shunt, LA and LV are volume
loaded with enlargement of both chambers. With a large
PDA, aorta and pulmonary arterial pressure are equal. In
addition to left sided volume overload, there occur pressure
overload of RV. Infants with moderate to large PDA may
develop heart failure. Gradually the LV compensates with
dilatation and hypertrophy leading to disappearance of
features of heart failure. However with increased flow there
occurs gradually progressive pulmonary vascular disease.
As the pulmonary vascular resistance goes on increasing
the left to right shunt gradually decreases and with
development of suprasystemic pressure right to left shunt
is established. Left sided volume overload is replaced by
right-sided pressure overload.
The hemodynamic changes that occur in premature
infants of PDA are different from that of mature infants
(full term baby) with similar size ducts. Premature infants
weighing less than 1.5 kg are not able to tolerate any extra
volume; even though the ductus is a relatively small one,
the left atrium and ventricle start dilating and give rise to
left ventricular failure and subsequently congestive heart
failure, as because the compensatory mechanisms are not
well developed. The sympathetic innervation of myocardium
is not adequate and the premature infants have, low calcium
level with increased amount of fetal hemoglobin. Because
of low oxygen content, subendocardial ischemia occurs.
117
In premature infants of birth weight less than 1.0 kg, acute
respiratory distress syndrome is a common presenting
feature and persistence of ductus arteriosus give rise to
added cardiovascular and hemodynamic (volume overload)
burden. These very sick infants need intensive care
management for their survival.
In some premature infants with patent duct, pulmonary
hypertension remains equal with systemic one, and the
pulmonary vascular resistance regresses very slowly
because the fetal pattern persists for a long time for which
a left to right shunt is not established early.
CLINICAL FEATURES
The clinical manifestations of PDA (small or large) vary
significantly in different age groups. Again to emphasize,
clinical course of premature infants differ from infants born
with full term.
Small PDA
These infants are normally asymptomatic, and have normal
growth, they lead a normal life. Cases may remain
undetected until examined for some other problem. Pulse
is normal with pulse pressure within normal limit. Precordial
activity is normal with apex beat of left ventricular type. A
systolic thrill or a continuous thrill is palpable over left upper
sternal border or infraclavicular area. First and second heart
sounds are normally heard. No third heart sound is
appreciated. A continuous murmur is audible over left first
and second intercostal space and also over left
infraclavicular area which is the hallmark of diagnosis of
PDA. This murmur is known as Gibson’s murmur and
typically there occurs a late accentuation of systolic murmur
which spills over the second sound and continues as diastolic
murmur. It is relatively soft high pitched murmur, heard
better on supine position and more prominent after exercise.
In infants a short crescendo systolic murmur, just spilling
over to diastole or even only a short crescendo systolic
murmur is enough to diagnose small PDA. But in children
with a similar sized PDA, it gives rise to a classical
continuous murmur with a longer diastolic component.
Sometimes a small duct, which is narrow but have a patent
lumen may not produce audible murmur, it is only detected
by colored Doppler echocardiogram (Doppler PDA).
 118 Clinical Diagnosis of Congenital Heart Disease
Large PDA
Infants born full term with a large PDA are symptomatic
either by minor or major forms from early infancy.
Tachypnea, tachycardia, feeding difficulty are main
symptoms. In later days repeated respiratory infections
occur and the infant may develop congestive heart failure.
CHF is uncommon in 1st week of life. Usually most of
these infants thrive the crisis (repeated chest infection and
CHF) but their growth is retarded. In childhood and
adolescent period they complain of easy fatigability, effort
intolerance and palpitation on mild to moderate exertion.
High volume (water-hammer or bounding) radial pulse,
wide pulse pressure, hopping carotid pulsation,
hyperdynamic precordium with forceful left ventricular apex
are usual features of large PDA. A continuous thrill over
left second space and sometimes left infraclavicular area
up to axillary region may be palpable in children, but in
infants usually only a systolic thrill is felt.
First heart sound is normally heard, second sound (both
components) is usually not audible as buried within the
continuous murmur and a left ventricular S3 is present over
the apex. In case of adult the S2 is loud. Paradoxical splitting
of S2 occurs in some elderly patients because the pulmonary
valve closes prematurely due to pressure of blood shunted
into pulmonary artery from aorta. Eddies sounds (multiple
sounds) heard within the continuous murmur is
another typical finding in cases of large PDA. These
sounds are produced by turbulent flow inside the duct.
This turbulence is caused by front-to-front collision of
directionally opposite flow from the ductus and at the same
time from right ventricle to pulmonary artery. The hallmark
of PDA is the continuous murmur audible better over left
upper sternal border and infraclavicular area; sometimes
heard up to upper axillary region. In some cases murmur is
also audible over para vertebral area on the back. It is a
high pitched, harsh or rasping murmur better heard on
supine position with crescendo and decrescendo quality.
The continuous murmur is increased during inspiration,
due to fall in pulmonary vascular resistance. The diastolic
part of the murmur is usually short not long as in small
PDA. This continuous murmur has several names,
commonly known as Gibsons murmur or machinery
murmur. The other names are cartwheel, humming top,
churning, mill wheel and train in tunnel murmur. In infants
and children up to three years of age commonly an ejection
systolic murmur is audible, the diastolic portion of murmur
is not appreciable or very short. A mid-diastolic low
frequency murmur is heard over the apex, due to increase
flow through the normal mitral valve in children and
adolescents.
In due course of time, when a patient attains adulthood,
the clinical picture of large duct usually is manifested in
two ways (1) Large duct with pulmonary hypertension but
no shunt reversal (2) Large duct with pulmonary
hypertension with shunt reversal. With increase in age, some
patients of first group change over to the second group
when pulmonary vascular resistance increases causing shunt
reversal. The second sound becomes prominent with P2
louder than A2 and closely split. The ejection click is better
audible over upper left sternal border and in expiration. The
hyperdynamic precordium becomes quiet, left parasternal
heave is felt and LV apex becomes RV type. Cyanosis
appears in lower limb (differential cyanosis) and rarely
cyanosis on left upper limb is also noticed when left sub-
clavian artery originates distal to ductus. The diastolic part
of continuous murmur disappears. The long systolic mur-
mur becomes a short ejection systolic murmur. No flow
MDM is audible over apex. In this setting in some cases an
early diastolic murmur of pulmonary regurgitation over
upper left sternal border and pansystolic murmur of tricuspid
regurgitation over lower left sternal border are audible. In
other words florid signs of severe pulmonary hypertension
with shunt reversal (Eisenmenger’s syndrome) occur.
Premature Infants
Premature infants commonly develop respiratory distress
syndrome. As the infant recover from respiratory problem,
the clinical evidence of the ductus becomes apparent by
high volume pulse, loud second sound and a systolic murmur
heard over left upper sternal border. Initially this systolic
murmur varies with intensity or may be absent, only after
some weeks of birth it is persistently audible. If the ductus
remains patent gradually the murmur extends into diastole
overlapping the second sound, giving rise to a continuous
murmur.
 Patent Ductus Arteriosus
Note: The early manifestations of congestive cardiac failure
in premature infants (not in matured ones) are episodes of
apnea, bradycardia and raised arterial PCO2. Hepatomegaly
usually occurs after some weeks of CHF.
INVESTIGATION
Electrocardiography
The ECG is normal when the PDA is small. With a moderate
or a large PDA left atrial enlargement (LAE) and left
ventricular hypertrophy (LVH) are common (Fig. 14.2).
Narrow deep ‘q’ waves are present in V5 and V6 with upright
‘T’ wave indicating volume overload of LV. This pattern
regresses to normal after surgical closure of PDA. The
ECG changes like P-Pulmonale (RAE), QRS axis towards
right (more than +110°) and RVH are present, when
pulmonary hypertension is severe with reversed shunt
occurs.
Radiography
The chest X-ray is normal when the shunt is small. Cardio-
megaly with LV contour, LA enlargement and increased
pulmonary vascularity (Plethora) (Fig. 14.3) are usual
features of large PDA. The dilatation of main pulmonary
artery (MPA) is the earliest radiological sign known
as the cap of Zinn. Sometimes plethora is more on right
side. Aortic knuckle is prominent. Pruning of peripheral
pulmonary vessels with prominent MPA indicate severe
Fig. 14.2: ECG of large PDA showing left ventricular hypertrophy (Chest leads taken with half standardization)
119
pulmonary hypertension. Calcification of ductus is seen in
elderly patients. In infants with large duct the ductal bump
is seen in X-ray as a distinct shadow between the aortic
knuckle and main pulmonary artery.
Echocardiography
Direct imaging of a patent ductus is difficult from
transthoracic window. In infants subcostal and suprasternal
windows can visualize a ductus and estimate its size and
length. Color Doppler imaging has overcome all the limitation
of 2D echo and is highly sensitive in picking of a ductal
flow. In a parasternal short axis view near the base color
flow detects a continuous mosaic jet entering the pulmonary
artery near the origin of left branch and passing proximally
along the left margin of the pulmonary artery. Width of
the jet at its origin gives an idea about the size of the
ductus. CW Doppler signal by aligning the cursor along
the jet gives a continuous high velocity Doppler spectrum
(Fig. 14.4). Pressure gradient can be obtained by Bernoulli
equation from peak velocities in systole and diastole.
Presences of pulmonary and tricuspid regurgitation also
help in estimating PA pressure. Moderate to large PDA with
significant left to right shunt shows features of left sided
volume overload like LA and LV enlargement. Ratio of LA
to aorta dimension is directly proportional to the amount of
shunt. Color flow also helps in detecting the direction of
shunt whether left to right, bidirectional or right to left.
Calculation of quantity of flow at different sites by integrating
2-D (cross sectional area) and Doppler data (time velocity
integral) measures the amount of shunt (Qp/Qs).
 120 Clinical Diagnosis of Congenital Heart Disease
Fig. 14.3: Chest X-ray of PDA showing cardiomegaly, LV
contour, left atrial enlargement and plethoric lung fields
Magnetic Resonance Imaging
In unusual situation like ductal aneurysm or endarteritis,
MRI may be helpful in diagnosis.
Cardiac Catheterization and Angiography
Because echocardiography is a non-invasive and an accurate
diagnostic procedure, cardiac catheterization is not
necessary in most of the cases. It is necessary in cases of
premature infants with cardiomegaly to exclude other
associated lesions. The right heart catheterization is
performed to measure PA pressure, pulmonary vascular
resistance and the ratio of pulmonary to systemic flow.
The Catheter can pass from RA to RV to PA and through
ductus to descending aorta. Sometimes the catheter can
pass from RA to RV then through VSD (if present) to aorta
and then to descending aorta. However LV angiogram or
retrograde aortogram differentiate VSD from PDA. Selective
angiography is done for definite diagnosis of ductus. Oxygen
step up by 5 percent at pulmonary artery level over RV is
suggestive of presence of ductus. When oxygen step up
occurs at RV or RA level, other lesions like VSD or ASD
are suspected and need to be excluded. Oxygen saturation
if less on lower limbs than upper limbs, the reversal of
shunt may be considered. Depending on angiographic
Fig. 14.4: Echocardiography of PDA, left panel showing color
flow from descending aorta to pulmonary artery along its left
margin and right panel showing continuous turbulence
obtained from the same site
profile, to facilitate percutaneous catheter closure PDA is
classified into five groups (Group A to Group E).
DIAGNOSIS
Small PDA
Patients are asymptomatic. General examination reveals no
abnormality. The hallmark of diagnosis is a continuous
murmur with longer diastolic component audible over upper
left sternal border and infraclavicular area. Second sound
is normally audible (not buried within murmur) and there
are no eddies sounds. ECG findings and radiological pictures
are not contributory. Echocardiography confirms the
presence of ductus with its size and flow pattern.
Large PDA
These patients may have history of heart failure in infancy
and repeated chest infection from early childhood. High
volume pulse; precordial pulsation, cardiomegaly with left
ventricular apex, a continuous thrill over left base, are the
usual findings. The hallmark of diagnosis is again the conti-
nuous murmur, rough and high frequency in character
(machinery murmur) audible over left base or left infra-
clavicular area and may extend up to left axillary area. It is
a crescendo—decrescendo murmur with longer systolic
and shorter diastolic component. The second sound is not
audible, as it is buried in-between the continuous murmur.
 Patent Ductus Arteriosus
Prominent eddies sounds are heard within the murmur. Left
ventricular S3 and a mid-diastolic flow murmur over apex
are often present. ECG shows LAE and LVH. In adults
evidence of right ventricular hypertrophy if noticed indicates
severe PAH and reversal of shunt. Radiological signs of
cardiomegaly with evidence of left atrial enlargement and
LV contour; prominent main pulmonary artery and
increased pulmonary vascularity are very helpful for
diagnosis of large PDA. Echocardiography confirms the
site, size and the flow pattern of large PDA.
DIFFERENTIAL DIAGNOSIS
Conditions producing congestive heart failure in early
infancy come as differential diagnosis. On clinical grounds
it is difficult to differentiate conditions like large VSD,
complete AV septal defects and persistence truncus
arteriosus who present with heart failure in infancy.
However, subtle clinical finding combined with ECG, X-
ray and finally echocardiography can easily differentiate
them.
Later age when these patients present with continuous
murmur, other clinical conditions giving rise to continuous
murmur are to be differentiated. They are (a) venous hum
(b) ruptured sinus of Valsalva aneurysm (c) aorto-pulmonary
septal defect and (d) coronary arteriovenous fistula.
Venous hum
Venous hum commonly comes as a differential diagnosis
for PDA but also most easily eliminated out. The continuous
murmur (venous hum) is present over supra or infra-
clavicular areas due to functional narrowing of the veins.
The character and intensity of which is significantly changed
on pressure (or change of posture), whereas it is not altered
in case of PDA. On clinical examination no other abnormal
cardiac findings are detected in case of venous hum.
Rupture of Sinus of Valsalva Aneurysm
Sinus of Valsalva aneurysm usually ruptures into right
ventricle and sometimes into right atrium producing a
continuous murmur. History of sudden onset of chest pain,
dyspnea and congestive heart failure following unusual
exertion in young adults, arose suspicions of rupture of
sinus of Valsalva aneurysm. The murmur produced is a
rough and continuous but superficial in character without
121
eddies sounds. The long diastolic component of continuous
murmur over upper sternal border goes in favor of PDA
not for sinus rupture of Valsalva. It is echocardiography
give the final diagnosis.
Aorto–Pulmonary Window (AP Window)
AP window may rarely have a continuous murmur. When
present it is difficult to differentiate from PDA. This murmur
is better heard at one space lower than the usual site of
PDA murmur. Pulmonary arterial hypertension develops
early in AP widow with ECG evidence of right ventricular
hypertrophy along with LV volume overload pattern.
However it is echocardiogram and in some cases
angiography particularly retrograde aortography that
establish the diagnosis.
Coronary Arteriovenous Fistula
(Coronary AV Fistula)
Relatively asymptomatic (sometimes complains of chest
pain on exertion), acyanotic child with a superficial
continuous murmur audible over lower sternal border (both
left and right side) arose the suspicion of coronary
arteriovenous fistula, which is differentiated from PDA by
its characteristic murmur and eddies sounds.
For academic interest causes of continuous murmurs
are: (a) acyanotic group—rupture of sinus Valsalva,
coronary AV fistula, systemic AV fistula, AP window,
ALCAPA and coarctation of aorta. (b) Cyanotic group—
pulmonary arteriovenous fistula, TAPVC, TOF or TOF like
physiology with PDA, surgically created shunts and PA-
VSD with aorto-pulmonary collaterals. Conditions producing
systolic murmur and early diastolic murmur (to and fro
murmur) are also confused with continuous murmur,
mainly VSD with AR, AS with AR and absent pulmonary
valve.
COMPLICATIONS
1. Repeated chest infection
• Severe form (Bronchopneumonia) in infants,
particularly in premature infants.
• Mild to moderate form (in children and adolescents).
2. Congestive heart failure (CHF)
• In premature infants with large PDA congestive
failure develops in 1st week of life.
 122 Clinical Diagnosis of Congenital Heart Disease
• CHF develops in later age if duct is large one.
• CHF may occur due to infective endarteritis.
• CHF develops in elderly patients having reverse shunt
due to chronic RV pressure overload and polycy-
themia.
3. Infective endarteritis: It is more common in adolescence
and adults. Vegetations form at the pulmonary end of
ductus, rarely at aortic end and over aortic valve. Small
ducts are more prone for vegetations. It gives rise to
CHF, pulmonary embolism, pulmonary infarction,
pulmonary abscess and systemic embolization.
4. Pulmonary hypertension and pulmonary vascular
disease: It is due to increased blood flow through large
duct.
5. Aneurysm of ductus arteriosus: It is common in infancy
and childhood. It develops at aortic end as an aortic
diverticulum. Falcon and Perloff classification states
four types of aneurysmal dilatation: (i) ductus patent at
both ends, (ii) non-patent pulmonary end, (iii) post-
operative, (iv) spontaneous rupture of aneurysm. This
aneurysmal dilatation of duct on chest x-ray gives an
impression of mediastinal mass.
LESIONS ASSOCIATED WITH DUCTUS
1. Desirable lesions (ductus dependent lesions) when
survival depends upon patency of ductus.
a. Partially dependent—pulmonary atresia with VSD,
tricuspid atresia, TOF with severe PS and TGA with
PS.
b. Totally dependent—mitral atresia, aortic atresia,
pulmonary atresia with intact septum, complete
interruption of aortic arch.
2. Undesirable lesions—VSD, ASD, and AV canal defect.
In these conditions the duct should close early because
it adds to the hemodynamic burden.
PROGNOSIS
In general patients having small duct lead normal life till late
adulthood. Infective endarteritis is the only serious
complication of a small duct which may shortens the life
span. Patients having large duct are usually symptomatic
from infancy. However most of them live up to adulthood.
A few infants having large PDA with congestive heart failure
die during infancy. The average age of death is 24 years in
Abbotts group and 36 years in Shapiro and Key group
(1943) in pre-surgical era. The downhill course occurs
when these patients develop reversal of shunt due to
pulmonary vascular disease. Those who suffer infective
endarteritis also have poor prognosis at any stage of life.
Surgery has changed the prognosis in these patients of large
PDA.
GUIDELINES FOR MANAGEMENT
Medical Management
Patients having small PDA are asymptomatic and lead a
normal life except the risk of developing infective
endarteritis. Previously it was left as such but now a days
PDA is closed either by catheter closure (device or coil
closure) or by surgical ligation mainly to prevent the deadly
complication of infective endarteritis. Infants with CHF are
treated with decongestive therapy before closure of ductus.
Catheter Intervention
For patient having large PDA dictum is to advice for catheter
closure or surgical ligation as soon as it is diagnosed mainly
to prevent complications. Catheter closure (occluding by
stainless steel coils or plugs or umbrella devices) is the
method of choice in infants and young children where the
duct size is less than 6 mm diameter. It is a very safe and
successful procedure, in spite of its potential complication
like coil embolization and femoral vessels occlusion.
Rashkind and Cuaso did the first percutaneous repair by
catheter closure of PDA in neonate in 1977.
Surgical Management
Surgery is done irrespective of size of PDA, particularly
for large PDA (more than 8 mm diameter). Robert E. Gross
in 1957 did the first successful surgical ligation of PDA.
Surgery (ligation and division of ductus under
cardiopulmonary bypass) still has it own importance and it
is indicated in cases of CHF, pulmonary hypertension and
repeated chest infection. Recently mini thoracoscopic
closure and video assistant endoscopic surgery are emerging
procedures for PDA closure. Surgery is rewarding and the
mortality rate is less than 1 percent.
 Patent Ductus Arteriosus
SALIENT FEATURES
1. The ductus arteriosus connects normally the pulmonary
artery to aorta in fetal life through which major portion
of RV output goes to descending aorta bypassing
collapsed nonfunctional lungs.
2. In postnatal period functional closure of ductus starts
by 10-15 hours and complete anatomical closure occur
subsequently.
3. Most of the premature infants have PDA even up to
three months. PDA is essential in some patients having
complex heart disease for their survival (duct dependant
lesions), whereas PDA becomes hazardous in some
forms of congenital heart disease because it adds to
the hemodynamic burden (LV failure in VSD and AV
canal defect).
123
4. Small PDA remains asymptomatic, it is suspected when
a continuous murmur is heard over left infraclavicular
area.
5. Large PDA is diagnosed by high volume pulse, LV apex,
S2 not audible as because berried within the continuous
murmur with eddies sounds.
6. ECG and X-ray show LA and LV enlargement with
pulmonary plethora on X-ray. Echocardiogram with
Doppler detects the continuous flow from aorta to
pulmonary artery. It also demonstrates the size of the
duct, PA pressure and LV function.
7. Infective endarteritis is a potential life threatening
complication at any age irrespective of size of the duct.
8. Early nonsurgical (device/coil closure) and surgical
closure for all types of PDA is advised.
 15 Aorto-pulmonary Window

CG Bahuleyan

SYNONYMS aorto-pulmonary septum and truncal septum during

Aorto-pulmonary septal defect/aorto-pulmonary fenes-
tration/aorto-pulmonary fistula.
DEFINITION
Aorto-pulmonary window (AP window) is a rare congenital
cardiac malformation resulting from a deficiency in the
aorto-pulmonary septum. It is a large single defect present
between the ascending aorta and the main pulmonary artery,
just above the semilunar valves (Fig. 15.1).
HISTORY
John Elliotson first reported this communication between
pulmonary artery and aorta as a malformation of great
arteries in 1830. The first detailed description was made
by Cotton in 1899 in the American Literature.
embryonic stage may give rise to aorto-pulmonary defect
in fetal life.
ANATOMICAL ABNORMALITIES
Size of the aorto-pulmonary defect varies from 5 mm to
3 cm or greater. It usually involves left side of the ascending
aorta and right wall of pulmonary trunk with the inferior
edge of the defect 1 to 2 cm above the coronary ostia. In
other words it is situated mid way between aortic valve
and bifurcation of pulmonary artery. The defect is nearly
always single and large ovale shaped one. Ventricular septum
is intact in the great majority of cases. In contrast to truncus
arteriosus, both great arteries arise from separate outflow

INCIDENCE
Available informations on this condition are based on
individual case reports, hence incidence and prevalence is
not well established. One study estimated the incidence as
0.1 to 0.2 percent of all congenital heart disease. Male predo-
minance is observed. This defect has no tendency to close
spontaneously.

EMBRYOLOGY
When the embryo has a crown-rump length of 9 to 13 mm,
the spiral aorto-pulmonary septum normally fuse and finally
it separates truncus arteriosus into two vascular channels,
aorta and pulmonary artery which are separated from each
other. Failure of this process (non fusion or absence of Fig. 15.1: Schematic diagram of AP-Window. Arrow showing
embryonic aorto-pulmonary septum) will result in a localized a large communication between aorta and pulmonary artery
defect between the two great arteries just above the level (LA—left atrium, RA—right atrium, LV—left ventricle, RV—right
of valves. It is also postulated that malalignment of the ventricle, Ao—aorta, PA—pulmonary artery)
 Aorto-pulmonary Window
tracts in this anomaly and each has an arterial valve at its
origin.
COMMON ANOMALIES
ASSOCIATED WITH AP WINDOWS
AP window occurs as an isolated anomaly in 50 percent of
cases and rest have associated defects. These include patent
ductus arteriosus (commonest), aortic origin of the right
pulmonary artery, anomalous origin of the right coronary
artery from pulmonary artery, interrupted aortic arch type
A or severe coarctation of the thoracic aorta, right aortic
arch, ventricular septal defect, tetralogy of Fallot, trans-
position of great arteries and tricuspid atresia.
CLASSIFICATION
There are several classifications of AP window reported in
the literature, out of which the following two classifications
are important.
1. Mori’s classification
Type I: A proximal defect midway between the semi-
lunar valves and the bifurcation of the pulmonary
arteries.
Type II: A distal defect with ill defined or absent posterior
border and anomalous origin of the right pulmonary
artery from the aorta.
Type III: A large defect combination of the first two
types.
2. Morphological classification (Kutsche and Van Mierop)
a. Circular and localized detect midway between the
semilunar valves and the bifurcation of the pulmonary
arteries.
b. A helical-shaped in a similar position.
c. A large defect that has no posterior or distal border.
HEMODYNAMICS
AP Window represents the physiology of a large left to
right shunt. The degree of the left to right shunt and pulmo-
nary hypertension are related to the size of the defect,
associated lesions and the relative resistance between the
systemic and pulmonary vascular bed. Within a few weeks
of birth large left to right shunt is established with near
systemic pressure in RV and PA. The aortic pulse pressure
becomes wide. By the end of infancy usually there is
evidence of high pulmonary vascular resistance and these
infants develop Eisenmenger’s physiology. In the case of
125
small communication which is very uncommon, the left to
right shunt is small, with normal RV and PA pressures.
Note: The hemodynamic effects of aorto-pulmonary septal
defects are volume overload of the left sided chambers and
pressure overload of the right-sided chambers.
CLINICAL FEATURES
Symptoms
Generally the presentation is similar to that of a large VSD
or PDA but these patients become very early symptomatic.
Congestive heart failure, dyspnea, diaphoresis, feeding diffi-
culty and failure to thrive are common presenting symp-
toms. When aortic arch anomalies are present, the symp-
toms may occur in the newborn period with circulatory
collapse and severe congestive heart failure. Cyanosis is
not usually present but may be seen when associated with
transposition of the great vessels, tetralogy of Fallot or aortic
atresia. Those who survive to their teenage, signs and
symptoms of Eisenmenger’s physiology develop in about
one third of cases.
Signs
Clinical findings include tachypnea, tachycardia, high
volume pulse with wide pulse pressure, a forceful apical
impulse (due to LV volume overload) and left parasternal
lift (indicating RV pressure overload). The second heart
sound is narrowly split (sometimes single), with accentuation
of pulmonary component suggesting pulmonary hyper-
tension. A pulmonary ejection click may be heard. Usually
a harsh long systolic murmur grade (3-4/6) is audible over
left upper parasternal border. This systolic murmur does
not spill over to diastole as in the case of PDA. A conti-
nuous murmur is uncommon and may be present when the
window is small. A mid diastolic murmur is audible at the
apex due to increase flow through mitral valve. PDA or
VSD may be associated with this defect and often mask
the findings of AP Window.
INVESTIGATIONS
Electrocardiography
Electrocardiography generally shows combined ventricular
hypertrophy. Left ventricular forces dominate in patients
 126 Clinical Diagnosis of Congenital Heart Disease
Fig. 15.2: ECG of aorto-pulmonary window showing normal
axis, right atrial enlargement and biventricular hypertrophy
(note: ECG taken in half standardization, 5 mm/mV)
with large pulmonary blood flow. In patients with
pulmonary hypertension right ventricular forces is
dominant. Left ventricular hypertrophy is indicated by tall
qR or qRS in III, avF and qR in V5-6 (with deep q), RV
hypertrophy is indicated by rSr or rsR in V1 and V2 (Fig.
15.2). Left atrial enlargement (biphasic P in V1) is present
in patients with large pulmonary blood flow.
Radiography
There are no specific features. Cardiomegaly with LV
contour and prominent pulmonary vascular markings are
usually seen. Main pulmonary arterial segment is prominent
due to dilatation of pulmonary trunks. Left atrial enlargement
may be seen in cases with large pulmonary blood flow.
Chest X-ray may be normal in those with small windows.
The aortic knuckle is usually not prominent. Right-sided
aortic arch is very uncommon.
Echocardiography
High parasternal short axis view at the level of arterial valves
demonstrates the walls of the two great arteries, and when
scan is extended superiorly the communication between
aorta and pulmonary trunk can be seen (Fig. 15.3). False
dropout is often seen in the aorto-pulmonary septal area. A
T-artifact at the edges of the defect help to differentiate
between a false dropout and true defect. Identification of
the two arterial valves helps to exclude the possibility of a
common arterial trunk. The left atrium and left ventricle
are dilated due to the large left to right shunt. Right
ventricular hypertrophy may be present. The pulmonary
arteries are significantly enlarged. Color Doppler
demonstrates flow through the defect. Forward direction
of color flow coming from the right border of pulmonary
Fig. 15.3: 3D Echocardiogram of AP-Window with TGA. Arrow
showing communication between aorta and pulmonary artery.
Ao—aorta, PA—pulmonary artery (Courtesy: Dr BK Mahala,
Narayana Hrudayalaya, Bangalore)
artery differentiates this condition from PDA, where
the flow in pulmonary artery is retrograde along the
left border. Conventional Doppler echocardiography also
demonstrates the abnormal continuous forward flow in the
pulmonary arteries. Significant aortic diastolic retrograde
flow is found in both the proximal aortic arch and the
descending aorta. This is in contrast to a patent ductus
where the proximal arch has no diastolic retrograde flow.
Cardiac Catheterization and Angiocardiography
If adequate echocardiographic images are obtained cardiac
catheterization is often not indicated. But certain associated
defects such as coronary anomalies and origin of right
pulmonary artery from aorta may be better detected by
angiography. Catheterization should be done in patients with
pulmonary hypertension to determine operability.
Catheterization indicates a large left to right shunt at the
pulmonary artery level. The right ventricular and pulmonary
artery pressures are usually at systemic level. The left atrial
pressure and left ventricular end diastolic pressure may be
elevated in infants with heart failure. Aortic pulse pressure
may be widened. Oxygen saturation and pressures in
different vessels and cardiac chambers in a patient with AP
window are as follows. Vena cava (62%, 75/45 mm of
Hg) RA (62%, mean pressure 4) RV (63%, 75/10 mm of
Hg) PA (90%, 75/45 mm of Hg) PV (97%) LA (97%, mean
 Aorto-pulmonary Window
Figs 15.4A and B: Aortic root angio showing simultaneous opacification of Ao and PA indicating (Aorto-pulmonary
communication. (A) in LAO view, (B) in RAO view (AO—aorta, PA—pulmonary artery, RPA—right pulmonary artery)
pressure 10 mm of Hg) LV (97%, 90/10 mm of Hg) aorta
(97%, 90/50 mm of Hg). When oxygen saturation is
increased significantly in RV over RA associated pulmonary
valve incompetence may be considered. The catheter
course is very typical. When passed from RA catheter
enters into RV then MPA and then towards ascending aorta,
which gives the diagnosis of AP window.
Angiography demonstrates the aorto-pulmonary defect
(Fig. 15.4) and also delineates clearly the associated lesions
if present. The main associated lesions are PDA, aortic
arch anomaly, anomalous origins of coronary arteries and
right pulmonary artery, which are easily demonstrated.
DIAGNOSIS
It is difficult to diagnose clinically AP window. Delayed
development, repeated respiratory infection, exertional
dyspnea, signs of CHF, cardiomegaly, loud and closely split
S2, a harsh systolic murmur over left mid sternal border
and in some cases continuous murmur clinically arose the
suspicion of AP window. ECG evidence of bi-ventricular
hypertrophy (RVH with LV volmeoverload pattern) is
present. 2-D echocardiography with Doppler will establish
the diagnosis delineating the large defect directly in majority
of cases. Some cases may require cardiac catheterization
and angiography.
127
DIFFERENTIAL DIAGNOSIS
The symptoms and signs of large VSD, PDA and Truncus
arteriosus (Type I) closely simulate AP window. The main
points to differentiate them are follows:
Large VSD
Cardiomegaly, loud S2 (loud P2), pansystolic murmur,
increased vascularity with biventricular and left atrial
enlargements go in flavor of large VSD. Early onset of
severe symptoms and early development of PAH combined
with a bonding pulse flavor AP window. Echocardiography
easily differentiates between VSD and AP window. During
catheterization the catheter can be passed from aorta to the
MPA in both the conditions, but if RV pressure wave is
obtained during withdrawal, it is diagnostic of VSD.
PDA
Symptoms and most of the signs of large PDA are same as
AP window. Patients of AP window become symptomatic
early and run a more stormy course with congestive heart
failure during infancy. Typical continuous murmur with
eddies sounds over upper left sternal border and
infraclavicular areas are suggestive of PDA. When PDA is
associated with AP window it is very difficult to differentiate
 128 Clinical Diagnosis of Congenital Heart Disease
merely on clinical grounds. 2-D echocardiography with
Doppler confirms the diagnosis.
Truncus Arteriosus (Type I)
The clinical pictures are closely similar to AP window. An
early diastolic murmur of truncal regurgitation over left
second and third sternal border and presence of mild central
cyanosis arose the suspicion of truncus arteriosus.
Echocardiography and angiocardiography help in the final
diagnosis. A solitary trunk arises from both ventricles
overriding a VSD in truncus but in AP window two trunks
arise separately with separate semilunar valves. The catheter
tip preferentially enters aorta from RV in truncus whereas
in AP Window the catheter enters pulmonary artery easily.
Patients with truncus usually show more arterial desaturation
than AP window.
Note: In truncus, VSD is always associated and right-sided
aortic arch is very common whereas in AP window, VSD and
right-sided aortic arch are not associated (extremely rare).
COMPLICATIONS
• Congestive heart failure
• Pulmonary hypertension; Eisenmenger’s syndrome
• Infective endocarditis (rare)
NATURAL HISTORY AND PROGNOSIS
An infant presenting with a large aorto-pulmonary window
with congestive heart failure, survival is poor. Only a
minority survive up to childhood. Approximately 20 to 30
percent of cases die in first year out of which more than
half die during neonatal period due to congestive heart failure
and chest infection. Favorable survival or improvement in
symptoms is due either to a restrictive aorto-pulmonary
window or to a rise in pulmonary vascular resistance with
a reciprocal decrease in left to right shunt. Those who
survive, they grow with retarded growth and reach adulthood
with Eisenmenger’s syndrome. Subsequently these patients
develop congestive heart failure and die by about fourth
decade. The prognosis has changed greatly because of rapid
advancement in the field of surgery. It is excellent if surgical
correction is performed early in life, before irreversible
pulmonary vascular changes appear.
GUIDELINES FOR MANAGEMENT
There is no specific medical treatment. Those infants develop
congestive heart failure and frequent chest infection, are
treated with conventional anti failure drugs (digoxin and
diuretics) and suitable antibiotics.
Transcatheter closure of AP window is under trial in
many centers, particularly for smaller defects.
Early surgical closure (with a patch of Dacron or
pericardium) of the defect is the currently accepted
treatment. As soon as the diagnosis is made the neonate or
infants are referred to a surgical unit. Elective surgical repair
is advised before 3 month of age. Surgery is done on priority
basis when abnormal origin of coronary artery and
pulmonary artery being detected by echocardiography and/
or by angiocardiography. The surgery should be done before
development of significant pulmonary vascular disease.
SALIENT FEATURES
1. A large defect between the ascending aorta and main
pulmonary artery above the semilunar valves is known
as AP window.
2. Basically it is a large left to right shunt lesion giving rise
to CHF and early pulmonary vascular disease.
3. The infants are symptomatic from infancy. On
examination no cyanosis, bounding pulse, S2 is closely
split with loud P2, pulmonary EC present and long
systolic murmur 2-3/6 over left upper sternal border are
common clinical findings.
4. Echo dropout between aorta and pulmonary artery in
short axis with T- artifact and continuous forward flow in
pulmonary artery coming from aorta is diagnostic of AP
window.
5. Patients are advised for early surgery.
 16 Complete Atrioventricular Septal Defect
Complete atrioventricular septal defect (AVSD) is also
known as complete atrioventricular canal defect or
endocardial cushion defect. The term endocardial cushion
defect is no longer preferred because the morphology
cannot be considered to arise solely from a defect in the
endocardial cushions. The term atrioventricular canal defect
can be used interchangeably with the understanding that
the canal in question is the common AV junction and not
associated with the embryologic development.
INTRODUCTION
The essence of the group of hearts described as atrioventri-
cular septal defects is the presence of common atrio-
ventricular junction and a trifoliate left atrioventricular (AV)
valve that bears no resemblance to the normal mitral valve.
This basic anomaly is uniform to all these hearts and all the
other morphologic alterations in an AVSD can be explained
by simply understanding the nature of the AV junction. In
other words complete AVSD consists of a common AV
orifice with a common fibrous ring and partially shared
valve leaflets, a large primum atrial septal defect (ASD)
and in general a large ventricular septal defect (VSD) (though
this deficiency maybe variable as discussed later). We do
not intend to discuss in detail the associations of AVSD in
this chapter, e.g. AVSD with double outlet right ventricle
or the heterotaxy syndromes often seen with AVSD.
INCIDENCE
AVSD is responsible for 0.19 per 1000 live births and
2.9 percent of congenital heart diseases. About three-fifth
of all defects are only partial. Some seasonal variation is
known with a higher incidence in March, July and October
and the defect is more prevalent in industrial areas.
R Juneja, S Shah
The association of AVSD with Down’s syndrome
deserves special mention as almost 33-50 percent of all
AVSD’s have Down’s syndrome and similarly a third of all
Down’s would have a complete AVSD. This makes it
mandatory to do an echocardiogram in all children with
Down’s syndrome irrespective of the clinical findings.
Down’s syndrome is uncommonly associated with partial
atrioventricular septal defect.
There is a 10 percent recurrence risk in first degree
relatives and a similar risk in off springs of parents with an
AVSD (this would be almost double if the mother has an
AVSD). This puts the recurrence rates to be much higher
than other congenital heart defects. There is no specific
sex predilection.
EMBRYOLOGY
A complete understanding of the morphogenesis of the
defect is still not present. The widely prevalent theory
emphasizes lack of fusion of the endocardial cushions as
the predominant problem and is outlined below. At day 28
the common atrium is dorsal to the ventricle. The two
communicate through a narrow passage, the atrioventricular
canal. About day 35 two thickenings on the dorsal and
ventral sides of the AV canal (endocardial cushion) grow
and meet, thus dividing the AV canal into a left and right
orifices, this is complete at about day 40. The mesenchyme
around each orifice proliferates to form the valve leaflets.
In atrioventricular septal defect, the superior and inferior
cushions do not close completely and therefore cannot fuse
with the septum primum. These patients thus develop an
atrial septal defect in the lower portion of interatrial septum.
Failure of fusion of the endocardial cushions results in an
abnormally low position of atrioventricular valves and high
position of aortic valve that gives rise to characteristic
gooseneck deformity on angiography.
 130 Clinical Diagnosis of Congenital Heart Disease

Small portions of atrioventricular valves also originate

from endocardial cushions. As cushions do not properly
fuse, most patients have an anterior and posterior
component to the anterior mitral valve leaflet (cleft mitral
valve).
The anatomy of AVSD (as outlined below) has far too
many associations to be explained by a simple lack of fusion
of the cushions and a hole in the mitral leaflet. The focal
point may still be the lack of fusion of the superior and
inferior cushions and therefore the lack of a central point
for the AV junctions. This leads to the common AV junction,
an abnormal valve formation from the ventricular mass that
is totally different from an isolated cleft.

PATHOLOGY
Atrioventricular Junction
A common atrioventricular junction is the hallmark of
atrioventricular septal defect. The normal apically displaced
septal leaflet of the tricuspid valve leaves an area of
atrioventricular septum (Figs 16.1A and B) that is partly
formed by membranous tissue and partly by atrial tissue
overlapping the ventricular septal crest. This overlap in the
posteroinferior area is insulated by an extension of fibro
fatty tissue and therefore is not truly septal; hence the term
atrioventricular muscular sandwich (Figs 16.1 and 16.2). Figs 16.1A and B: Four chamber section of a normal heart
Figure 16.2 shows the anatomy of this area in a normal showing the lower edge of the muscular atrial septum
heart while Figures 16.1, 16.3 and 16.4 provide a compa- overlapping the crest of the ventricular septum. This muscular
rison vis a vis a complete AVSD. The absent atrioventricular sandwich can also be appreciated in Figure 16.1A.
muscular sandwich along with the atrioventricular fibrous Figure 16.1B is a sketch diagram showing separate right and
left atrioventricular junctions in a normal heart along with the
septum is a near universal phenomenon.
atrioventricular muscular sandwich extending forward to the
site of fibrous atrioventricular septum (the atrioventricular
Position sandwich). Reproduced with permission from Greenwich
In both partial and complete forms of atrioventricular septal Medical Media Ltd.

defect, the atrioventricular valves lie in the same plane with

respect to the base of the ventricular septum. By contrast,
in the normal heart there is a small displacement of the
plane of the tricuspid valve toward the apex. Additionally,
the annulus of the normal atrioventricular valves lies in one
plane but in patients with complete AVSD is convex towards
the cardiac apex.
By virtue of the common atrioventricular junction the
normal wedging of the subaortic area between the two AV
annuli cannot occur (Figs 16.3 and 16.4). This leads to an
anteriorly displaced left ventricular outflow tract that gets
squeezed between the superior leaflet of the atrioventricular
valve and the parietal ventricular wall.
AV Valves
The common AV valve has five leaflets (Figs 16.3 to 16.5)
out of which two are found exclusively within the right
ventricle occupying inferior (mural) and anterosuperior
positions. One is exclusive to the left ventricle and is found
murally. The other two leaflets bridge the ventricular septum
and are positioned superiorly and inferiorly. The papillary
 Complete Atrioventricular Septal Defect 131

Figs 16.2 A and B: Transverse section from a normal heart

shows the atrioventricular junctions. (A) from the atrial aspect,
(B) from the ventricular aspect. It also shows the subaortic
outflow tract wedged between the two atrioventricular valves.
Reproduced with permission from Greenwich Medical Media
Ltd.
muscles are also aligned differently with the left side having
a superior and inferior papillary muscle and the right side
having a medial, anterior and inferior papillary muscle.
The cleft mitral valve is therefore not a hole in the mitral
valve but is formed due to incomplete apposition of the
two bridging leaflets on the septal side thus leading to
regurgitation into either atria (red arrow in Fig. 16.3). The
dilated AV ring by itself may also lead to incomplete Fig. 16.3: Schematic diagram showing the common atrio-
coaptation of the AV valves that appears like a prolapsing ventricular junction with five leaflets, the formation of the cleft
“anterior” leaflet and a central jet of mitral regurgitation. and the difference between a complete and partial canal. The
The cleft regurgitation is always seen kissing the arrow shows the cleft that is the incomplete apposition of the
two bridging leaflets. Reproduced with permission from
interventricular and atrial septal wall.
Greenwich Medical Media Ltd.

Atrial Septum
present. The inferior bridging leaflet is often fused with the
The interatrial communication is seen in the lower and
ventricular crest and it is the attachment of the superior
anterior part of the atrial septum and has been traditionally
bridging leaflet (SBL) that determines the VSD size. In
called ostium primum atrial septal defect. In general these
hearts with exclusive atrial shunting, the two bridging leaflets
defects are large but may vary in size and are concave
are joined together by a tongue of tissue running along the
anteriorly/inferiorly. The rest of the septum may be normal
ventricular septal crest. This fusion may be incomplete
or occasionally has a typical additional ostium secundum
leading to a single inlet type of VSD whose size would
ASD and in extreme cases there may be no septum at all
depend entirely on the degree of the SBL attachment. Such
(common atrium, variant of AVSD).
defects have been variously termed as intermediate or
transitional defects but such terms are best avoided as they
Ventricular Septum
do not convey a uniform meaning. The inlet septum is
The manner of attachment of the atrioventricular valve tissue concave towards the atrium. Invariably, in all cases the
determines whether a ventricular septal defect (VSD) is outlet dimension of the left ventricular aspect of the septum
 132 Clinical Diagnosis of Congenital Heart Disease

Fig. 16.5: Dissection of the common atrioventricular valve as

seen from the atrial aspect showing basic five leaflets of the
common AV valve from the atrial aspect. BL: Bridging leaflet,
ASL: Anterosuperior leaflet. Reproduced with permission from
Greenwich Medical Media Ltd.

Figs 16.4 A and B: Dissection of the common atrioventricular

junction from the atrial aspect revealing: (A) a common orifice
in complete atrioventricular septal defect, (B) common AV
junction but separate orifices in primum variant. Notice the
atrioventricular junction (or the atrioventricular canal) has the
same arrangement. It is only the fusion of the valvar tissue that
determines the type of the atrioventricular septal defect. The
unwedged (or unsprung) aorta is also obvious because of the
lack of the normal space between the two atrioventricular valves
Reproduced with permission from Greenwich Medical Media
Ltd.

is appreciably longer than the inlet by the same proportion
in all these defects that is pathognomonic of an AVSD
(Fig. 16.6).
Additional perimembranous or muscular ventricular
septal defects may coexist or the defect could be large
enough to involve the perimembranous septum also. The
VSD in an AVSD is typically inlet as it lies in relation
to the inlet portions of the heart, i.e. the AV valves. It is
possible to have only the VSD component with no ASD
when the bridging leaflets get attached to the atrial septum.
Fig. 16.6: Schematic diagram showing the disproportion in
the dimension of the left ventricular aspect of the septum, the
outlet dimension being appreciably longer than the inlet, a
hallmark of AVSD. Reproduced with permission from
Greenwich Medical Media Ltd.
Such isolated inlet VSD (in an AVSD) can be differentiated
from a usual inlet VSD by seeing the other typical features
of an AVSD, i.e. the trifoliate left AV valve and the common
AV junction with an unsprung aorta.
 Complete Atrioventricular Septal Defect
The Rastelli Classification
AVSD’s have traditionally been classified into three types
based on the attachment of the SBL to the right side in an
otherwise normal (S,D,S) heart in situs solitus. If the SBL
is mostly contained in the left ventricle and is firmly tethered
by tendinous chords to the septal crest, there is no VSD.
However, small VSD’s can coexist between the interchordal
spaces or when part of the tendinous chords get attached
to a normally positioned medial papillary muscle; these
defects are called as Rastelli type A. The ventricular septal
defect does not extend to the aortic cusps. Left ventricular
outflow obstruction is most prevalent in these patients.
Type A commonly occurs alone or in association with
Down’s syndrome.
In Rastelli type B, the right ventricular papillary muscle
is displaced down the septum or occupies an anomalous
position from the septomarginal trabeculation. Because of
this, the degree of bridging is greater and the superior bridg-
ing leaflet is less well attached to the crest of the septum.
The ventricular septal defect extends up to the aortic cusps.
In Rastelli type C, the free floating SBL extends even
further into the right ventricle and the medial papillary
muscle is increasingly displaced and fused with the anterior
papillary muscle at the apex of the right ventricle. This
type is common in patients with associated cardiac or
extracardiac anomalies (Tetralogy of Fallot, Double outlet
right ventricle, asplenia, polysplenia, Down’s syndrome).
The inferior bridging leaflet almost always extends
equally into both ventricles but can show all the variations
similar to the SBL.
An unbalanced atrioventricular septal defect is a
condition in which one ventricle is hypoplastic and the other
receives most of the atrioventricular valve. It is rare to
have ventricular size discrepancy in children with AV canal
and Down’s syndrome in comparison to other children with
AV canal defect.
Left Ventricular Outflow Tract (LVOT)
By virtue of its abnormal position the LVOT is particularly
vulnerable to obstruction. The tract is almost always
narrowed; the degree of narrowing is greater in the primum
defects. Hemodynamically significant obstructions are
however uncommon and usually not due to the anatomical
arrangement but occur more often post surgically or due
133
to associated anomalies. Thus fibrous tissue tags, anomalous
insertion of LV papillary muscles, fibrous shelves can
reduce the already compromised LVOT.
Conduction System
The fundamental lack of atrioventricular septal structures
and the central fibrous body lead to abnormal AV conduction.
In AVSD, only the inferior limb of the atrial septum comes
in contact with the ventricular septum at the crux. It is
therefore at the crux that the AV conduction axis penetrates
and consequentially the entire nodal axis gets displaced
posteroinferiorly. This leads to an elongated non branching
bundle that runs either on the crest or to its left and is
covered by the inferior bridging leaflet. The bundle branches
are thus more posteriorly located and only the right bundle
goes along the crest. The LVOT is thus nowhere near the
conduction axis unlike normal hearts.
Associated Anomalies
Presence of an AVSD does not exclude other lesions from
coexisting. Common AV valves may be present with double
inlet ventricles or discordant AV connections. Such hearts
may further have discordant ventriculoarterial connections
or double outlet right ventricle. The latter subset is in parti-
cular associated with situs ambiguous and asplenic/poly-
splenic syndromes. Pulmonic stenosis or TOF with under-
lying AVSD may be seen in up to 10 percent although in
our own experience it is definitely less common. Presence
of LVOT obstruction may predispose to right ventricular
dominance, coarctation of aorta and aortic arch interruption.
This is also an unusual association. A particularly important
association is the presence of a left superior vena cava to
LA where the coronary sinus may be unroofed in up to 50
percent of cases and a coronary sinus type of ASD is the
rule, contrast echocardiography from the left arm should
be done in these patients. Merely checking for desaturation
maybe fallacious as the large pulmonary venous blood flow
dilutes this small R→L shunt.
Differential diagnoses: Lesions that may resemble AVSD
are Gerbode type shunts, Inlet VSD’s with tricuspid valve
tissue allowing an LV-RA shunt, isolated clefts in the anterior
mitral leaflet and straddling of AV valves. The distinction is
made clearly by remembering that a common AV junction
is the hallmark of an AVSD.
 134 Clinical Diagnosis of Congenital Heart Disease

PHYSIOLOGY
Intrauterine Life
Because of the proximity of the ostium primum atrial septal
defect to the tricuspid valve, it is possible that superior
vena caval blood flow, which is usually directed through
the tricuspid valve, will shunt across the atrial septal defect
to the left ventricle, decreasing the oxygen saturation
difference between the ascending and descending aorta in
the fetus. If this were to happen, there would be a conco-
mitant increase in the saturation of blood ejected by the
right ventricle, increasing the PO2 in the blood flowing to
the pulmonary vessels and possibly affecting their develop-
ment. If a large ventricular septal defect is present, shunting
of additional right ventricular blood across the defect in to
the aorta could occur. This effect would further decrease
the PO2 in the ascending aorta and increase the PO2 of
blood perfusing the lungs.
Due to atrioventricular regurgitation, blood gets shunted
from left ventricle to right atrium through the cleft mitral
valve (this is an obligatory shunt from a high pressure to
low pressure chamber and is not influenced by pulmonary
and systemic vascular resistance). This decreases left
ventricular stroke volume and adds on the decreased aortic
blood flow.
Postnatal
This is dictated by the type of the defect as seen in
Figure 16.7.
A. Partial AVSD: When the interatrial shunt is large and
left atrioventricular valve regurgitation is mild or absent,
the hemodynamic state is nearly identical to that in
isolated secundum atrial septal defect. When important
left atrioventricular valve regurgitation is present, the
left to right shunt becomes larger and causes volume
overload of right (and may be left) ventricle and may
produce cardiac failure early in life. Atrial level shunting
in common atrium is due to venous admixture and
saturations typically range around 90 percent in absence
of PAH.
B. Complete AVSD: In presence of large ventricular septal
defect, systolic pulmonary artery pressures are equal
to aortic pressures. Left AV valve regurgitation will
increase the left ventricular volume overload. Such
patients have typical findings of an increased pulmonary
blood flow early in life, with CHF and frequent respi-
ratory infections. These patients will develop irreversible
pulmonary vascular disease early in life, usually by
6-12 months of age (earlier if child has Down’s syn-
drome). Once pulmonary vascular disease (PVD) sets

Fig. 16.7: The potential of shunting across the atrioventricular septal defect is determined by the relationship of the bridging
leaflets to the underside of the atrial septum and to the crest of the muscular ventricular septum. It is usually the superior bridging
leaflet that defines this distinction. Reproduced with permission from Greenwich Medical Media Ltd.
 Complete Atrioventricular Septal Defect
in, symptoms of failure will improve. Later, when
advanced PVD develops, physiology is same as in
patients with Eisenmenger’s syndrome with an additional
volume overload due to mitral regurgitation. The cardio-
megaly in such patients cannot be taken as a marker of
a large left to right atrial shunt as this may be due to
mitral regurgitation.
CLINICAL FEATURES
Presentation will vary depending on the size of the VSD
and the severity of AV valve regurgitation. Either of these
can lead to early onset of CHF or lower respiratory infections
in the neonate. Primum ASD’s can also present in early
infancy, especially when associated with significant AV
valve regurgitation. The large blood flow in most primum
ASD’s may lead to symptoms early in infancy even without
regurgitation. Most primum ASD’s are large defects and
have a small right to left shunt at the atrial level that is
returned back and hence does not contribute towards
cyanosis. Significant shunting from the ventricle to right
atrium is seen in < 20 percent, but may also contribute to
the large flow. Uncommonly, especially in Down’s babies
there may not be any symptoms suggestive of high flow
and they might be detected to have an AVSD after
Eisenmenger syndrome has occurred. Infants with
common atrium also have a large pulmonary blood flow
and may be mildly cyanosed. Despite a persistent left SVC
joining LA the cyanosis remains mild because the percentage
of blood from left SVC is much less compared to the fully
saturated pulmonary venous return.
Physical Examination
General examination: Look for features of Down’s
syndrome. There may be growth failure (more common in
primum ASD and common atrium than secundum ASD),
hyperinflated chest, bulging precordium, respiratory tract
infection and features of CHF. Mild/intermittent cyanosis
can be due to common atrium, pulmonary vascular disease,
persistent LSVC or simply due to a large primum ASD
especially in a neonate. If no signs of failure are seen in a
known case of complete AVSD, one should suspect
pulmonary vascular disease or severe pulmonary stenosis/
atresia.
135
Cardiovascular Examination
Peripheral Pulse: Severe mitral regurgitation may give rise
to a so called water hammer like pulse (due to shortened
ejection time for a large volume ejection out of the LV).
However, this is not to be in any way confused with the
classic pulse of an aortic regurgitation wherein the diastolic
fall produces the classic water-hammer. In presence of
congestive cardiac failure, there is a small volume pulse.
JVP is mostly difficult to visualize and comment upon
in neonates, infants and small children. In older child a
prominent X and Y descent suggest the presence of equal
and elevated A and V waves. The simplest way to time is
by feeling the carotid pulse that corresponds with the x
descent. A dominant V wave is further evidence for
prominent VSD or AV regurgitation. Only children above 6
years old probably will be cooperative enough to give some
useful information.
On inspection, there is hyperdynamic precordium,
precordial bulge and Harrison’s sulcus and on palpation,
left parasternal lift, palpable S2, apical systolic thrill due to
mitral regurgitation are felt.
Auscultation reveals S1 is single and loud or may be
soft when atrioventricular conduction is prolonged, S2 is
fixed and widely split with loud P2 or a narrow split in
severe pulmonary artery hypertension in Eisenmenger
syndrome with complete AVSD. P2 may be loud even in
the absence of significant PAH because of the PA dilatation,
as in any large ASD. RV S3 and LV S3 may be heard in
primum defects and complete AVSD respectively as long
as there is no significant PAH cutting off the shunt.
A pulmonary ejection click may be present because of
the dilated PA secondary to the large flow or PAH or rarely
due to valvular PS with primum ASD (a rather rare
combination). Long pansystolic murmur of mitral
regurgitation is heard at the apex radiating towards the
sternum (if the jet is predominantly LV to RA). Separate
VSD murmur may be heard at the left lower sternal border
because of high flow across the VSD or with a restrictive
VSD. Clinically it may not be possible to differentiate
between the two although the MR murmur is more likely to
be of high frequency.
An ejection systolic murmur in the pulmonary area is
found in children with primum ASD with or without a VSD
 136 Clinical Diagnosis of Congenital Heart Disease

due to increased blood flow from a dilated right ventricle

across the normal pulmonary valve into dilated pulmonary
artery. A mid diastolic flow murmur is heard widely over
the lower left precordium and at the apex secondary to the
large diastolic flow across the atrioventricular valve leaflets.
Onset of severe irreversible PAH is heralded by cyanosis,
lack of flow murmurs, less than 3/6 ejection murmur with
a single second sound.
Complete AVSD with severe PS would have clinical
findings quite similar to a TOF.

INVESTIGATIONS
Radiography
Situs should be judged based on the gastric air bubble/bron-
chial pattern and the position of the heart in the thorax
assessed. Cardiomegaly is usually because of the increased
pulmonary blood flow and CHF. The apex may be of right
or less commonly left ventricular type (Fig. 16.8). Right
atrium is the predominant chamber that is enlarged. The
Fig. 16.8: Chest X-ray in a patient with partial atrioventricular
left atrium may also be enlarged in the presence of a VSD septal defect. There is the cardiomegaly, right atrial enlarge-
with significant shunt or because of left AV valve regurgi- ment and increased pulmonary vascularity. The X-ray cannot
tation. Some of these children with severe AV valve regurgi- help in distinguishing a primum form a secundum ASD and
tation can have massive cardiomegaly and have to be dealt neither a complete from incomplete variety
with extreme care during catheterization. It should be
cautioned that lack of cardiomegaly on a PA film does not
Increased P wave amplitude/width is seen (right/left
exclude an AVSD especially in children with Down’s
atrial enlargement). Right atrial rather than left atrial
syndrome.
enlargement may be apparent as the mitral insufficiency jet
Main pulmonary artery is prominent and there are signs
is often directed into the right atrium; furthermore the ASD
of increased pulmonary blood flow (PBF). Peripheral
tends to lead to a right atrial overload even in the presence
pruning with lack of cardiomegaly is seen if PVD is present.
of a complete AVSD.
Dilated main or left pulmonary artery compressing the left
Right ventricular volume overload results in right
main bronchus may lead to collapse of a part of the left
ventricular dilatation and an incomplete RBBB pattern with
lower lobe seen as a shadow within the cardiac silhouette.
an rsR’ or RSR’ pattern in the right precordial leads and a
Electrocardiography slurred small S in V6. Left or biventricular dilatation is seen
AVSD has a classical ECG pattern and can be suspected in if mitral regurgitation is severe and in compete AVSD
the presence of a superior axis in the frontal plane (Fig. 16.9) (Fig. 16.9). Assessment of left ventricular enlargement is
(usually between –30o and –90o) with counterclockwise difficult because of the displacement by the enlarged right
depolarization (simply suggests that the initial left to right ventricle.
septal depolarization does not occur in the usual way because
Peripheral Smear and
of the posteriorly displaced AV conduction axis).
Ultrasonography Abdomen
Prolonged PR is seen in 18-70 percent of patients
(secondary to delay in interatrial activation rather than in Asplenia may be suspected by the presence of Howell-Jolly
atrioventricular nodal conduction). bodies in the red blood cells in the peripheral smear.
 Complete Atrioventricular Septal Defect
Fig. 16.9: ECG in complete AVSD, in a 6 by 2 format. The
initial part shows limb leads at full standardization and the
subsequent part shows limb and chest leads in half voltages.
There is left axis deviation (if one sees the initial QRS) and
marked biventricular hypertrophy. There is also evidence for
biatrial enlargement as the peaking in I and aVL is in the initial
part and V1 shows a late negativity. Note half standardization.
Confirmation of asplenia is usually via ultrasonography or
blood pool scan. Testing for asplenia is necessary when
AVSD is seen in combination with DORV that is often
associated with an ambiguous situs.
Echocardiography
Transthoracic echocardiogram is diagnostic and provides
detailed anatomic and functional information. Situs should
be carefully examined as well as pulmonary vein ostia on
2D. Doppler velocities should be interrogated because of
the known associations of AVSD with TAPVC, pulmonary
vein stenosis, etc.
Most AVSD have a situs solitus. When associated with
situs ambiguous it is generally associated with other complex
malformations.
Venous connections are usually normal but AVSD can
be associated with persistent left superior vena cava draining
to CS or to LA and interrupted inferior vena cava. These
can be easily picked up from the suprasternal and subcostal
views respectively. Pulmonary venous drainage should be
confirmed; although in common atrium one may think how
137
does it matter? The drainage through a single vertical vein
is always akin to a large left to right shunt if the veins are
not inspected.
RA and RV are dilated in incomplete AVSD while all 4
chambers would be enlarged in a complete AVSD with a
large shunt and the LA, LV would again decrease in size
once severe PAH sets in.
Associated secundum ASD can be easily seen in the
subcostal view and are quite common. It is unusual to have
an additional muscular VSD and the VSD is typically seen
along with the AV valves (Fig. 16.10) thus telling its location
to be typically inlet. The chordal attachments, papillary
muscle arrangements and the sizes of the ventricles should
be noted along with the insertion of the SBL to decide about
surgical closure. A typical AVSD has normally related great
arteries and in most cases is surgical closure is possible
giving a near normal anatomy.
The morphology of the common AV valve can be very
clearly delineated. After having examined the situs and
venoatrial relationship, an apical 4 chamber view shows a
classical picture. The absence of the central hinge point
(aortomitraltricuspid continuity) is lacking. One sees a
large single AV orifice that is opening into the ventricles
(Fig. 16.10) (that may be concordant, discordant, hypo-
plastic, etc.) and the central coaptation in systole reveals
the primum ASD and the VSD clearly (Fig. 16.11). A more
diligent search would reveal the third leaflet in the LA (mural,
Fig. 16.12). A color Doppler examination will show the
ASD and VSD jets and also show the jet of left AV
valve regurgitation that is seen kissing the ventricular
septum (Figs 16.11 and 16.13) unlike the jet of a
rheumatic MR that in 4 chamber view is typically seen to
occur between the two leaflets. An additional central left
AV regurgitation jet may also be seen going through the left
AV valve and that is usually due to the dilated annulus and
incomplete coaptation. Also, obligatory shunting, which is
a form of valve regurgitation, can occur from the left
ventricle to the right atrium (Fig. 16.13) and from the right
ventricle to the left atrium.
The foregoing description has been deliberately kept
unorthodox as I feel this information can be easily picked
up by people not routinely doing pediatric echocardio-
graphy. The details of the common atrioventricular valve
are more difficult to understand and are often not required.
 138 Clinical Diagnosis of Congenital Heart Disease

Fig. 16.10: Apical 4 chamber view in diastole from a patient

with complete atrioventricular septal defect showing a common
atrium. Notice the common atrioventricular junction and the
absence of any crural tissue

Transesophageal echocardiography is mandatory at the time

of coming off bypass (during surgery) as it allows detection
of residual shunts/atrioventricular valve leakage and left
ventricular outflow tract obstruction.

Cardiac Catheterization
Current echocardiographic techniques are usually adequate
for a complete anatomic and physiologic diagnosis based
upon which decision regarding surgical repair can be done.
Catheterization is indicated when there is a clinical
concern regarding the presence of pulmonary vascular
disease or when multiple associated cardiac defects are
seen and a univentricular pathway is being contemplated.
Right and left heart catheterization is performed through
the venous and arterial retrograde approach. It is often
difficult to enter the right ventricle and PA because of the
tendency for the catheter to enter into the LA through the
anteriorly and inferiorly located primum ASD. Left
ventricular angiogram is usually done in LAO and RAO
views (Fig. 16.14); the former helps in showing the VSD
and the latter shows the classical goose neck deformity
of the outflow tract of the left ventricle and also the
presence of AV valve regurgitation.
The hemodynamic assessment of children with Down’s
syndrome must take into account the fact that these patients
may have chronic nasopharyngeal obstruction, relative
Figs 16.11A and B: (A) Apical four chamber view in systole
from a patient with the so-called intermediate/transitional
variety of atrioventricular septal defect. In this patient, separate
right and left sided orifices of common atrioventricular valve
are seen with an ostium primum defect and a small
interventricular connection. (B) Four chamber view in another
patient, in systole showing a large deficiency in the inlet
ventricular septum and also a jet of mitral regurgitation that
hugs the interventricular and atrial septum that is quite typical
of a jet through a cleft
hypoventilation, carbon dioxide retention as well as sleep
apnea. Hypoxia may falsely elevate PA pressure and lead to
a wrong decision regarding operability. We generally under
sedate children with Down’s syndrome to get proper
hemodynamic data. It is always useful to take a pulmonary
 Complete Atrioventricular Septal Defect 139

Figs 16.12A and B: Modified parasternal short axis views in

systole and diastole showing the SBL, the right anterosuperior
leaflet and the left mural leaflet (arrow). This arrangement is
diagnostic of an AVSD

Fig. 16.13: Apical four chamber view in systole where high

velocity jet is seen (blue color) representing mitral regurgitation
and a LV to RA communication. A subcostal view is very useful
in outlining the LV-RA communication and distinguishing it
from a VSD or TR flow

venous saturation to avoid erroneous calculations of

pulmonary vascular resistance.

DIAGNOSIS
The infant presenting with mongoloid features, symptoms
of CHF and on auscultation found to have pansystolic
murmur due to MR and a separate VSD murmur, with an
ECG showing left axis deviation and biventricular
hypertrophy has an over 90 percent chances of having a
Figs 16.14 A and B: Angiocardiograms in partial AVSD in left
and right anterior oblique views (a-LAO and b-RAO). Notice
the abnormal protrusions on the septal aspect (arrow) in LAO
and the gooseneck deformity along with concavity of the AV
Valve. Cleft can be seen in RAO (arrow) but has no
regurgitation
 140 Clinical Diagnosis of Congenital Heart Disease
complete AVSD. A chest X-ray helps in determining the
overall CT Ratio, associated lung status and the chambers
enlarged and should always form an integral part of the
diagnostic formulary. Echocardiography outlines the
anatomy and physiology while cardiac catheterization and
angiocardiographic study maybe needed in borderline or
complex cases with malpositions.
DIFFERENTIAL DIAGNOSIS
The differential diagnosis is mainly confined to a group of
diseases presenting with repeated respiratory tract infection,
and congestive heart failure in early infancy indicating
increased pulmonary flow. The main anomalies considered
here are large VSD, TGA with large VSD, TAPVC.
Ventricular Septal Defect (Large VSD)
There is not much to distinguish between the two clinically.
An early age of presentation, significant RA and RV volume
overload with an ECG of LAD and incomplete RBBB points
towards an AVSD.
TGA with VSD
These patients are symptomatic with mild cyanosis and
congestive heart failure in early infancy, if the VSD is
adequate. The differentiating clinical features that may be
useful are a classical X-ray, ECG findings of right axis
deviation and RVH and presence of cyanosis or heart failure
more than expected. Echocardiography is diagnostic of
either condition, though one should ensure that the structure
from LV is not branching typically like a PA normally.
Total Anomalous Pulmonary Venous
Connection (TAPVC)
These patients are also symptomatic from early childhood.
Left parasternal lift; failure to thrive wide split second sound
with loud P2 and ejection systolic murmur grade 3-4/6 over
left parasternal border are features of TAPVC.
Roentgenographic picture maybe useful if it shows the
typical pattern and the ECG is far more useful as it never
shows a left axis deviation and mostly shows significant q
in inferior leads. A most useful clue to TAPVC on echo is
the R →L flow across the ASD.
COMPLICATIONS
Complications of a complete AVSD are
• Congestive Heart Failure and failure to thrive.
• Repeated respiratory tract infection, pneumonia/
bronchopneumonia.
• Eisenmenger’s syndrome due to early development of
pulmonary vascular disease.
• Infective endocarditis.
• Rhythm problems—persistent supraventricular tachy-
cardia (atrial flutter or recurrent PSVT and prolonged
PR).
NATURAL HISTORY
In complete AVSD severe congestive cardiac failure
develops in early infancy often in the first month of life and
significant pulmonary vascular disease (PVD) is generally
apparent by 6 months of age in the majority with a large
VSD. Irreversible PVD in complete AVSD would be seen
in > 90 percent of such patients by age of 3-5 years. Overall
a complete AVSD is much more malignant in its course
than a large VSD. 80 percent of patients who do not undergo
surgical correction/palliation die by 2 years of age. Apart
from PAH, such children frequently develop severe
pneumonias in early infancy that may lead to respiratory
failure requiring ventilatory support and death due to
superadded nosocomial infections.
An important aspect of the natural history of patients
with AVSD’s is the tendency of their offsprings to have
similar defects or other congenital cardiac malformations.
14 percent of children of mothers with AVSD have
congenital heart disease, half have tetralogy of Fallot and
half have AVSD’s. This prevalence is much higher than
the 2-4 percent among children of parents with other type
of congenital heart diseases.
PROGNOSIS
Recent data of complete AVSD from Western centers is
summarized below. Pulmonary artery band carries
 Complete Atrioventricular Septal Defect
4.7 percent in hospital mortality. Age was not found to be
a risk factor for corrective surgery. Severity of
atrioventricular valve regurgitation, preoperative functional
status, associated major cardiac anomalies, hypoplasia of
one ventricle were major risk factors. The incidence of
surgically induced complete heart block is 1.6 percent.
The actuarial risk for corrective surgery without VSD
was found to be 0.6-4 percent and that with VSD was
5-13 percent . The actuarial survival at 12 years after surgery
with mild atrioventricular valve regurgitation was 95% and
that with moderate/severe atrioventricular valve
regurgitation was 88 percent.
Late reoperations following repair of AVSD’s may be
for left/right atrioventricular valve regurgitation/stenosis,
residual ASD/VSDs or left ventricular outflow tract
obstruction.
GUIDELINES FOR MANAGEMENT
Medical Treatment
Anticongestive measures like diuretics and digoxin are given
if clinically indicated, that is often not the case in isolated
primum defects. The role of ACE Inhibitors for control of
failure is unclear but is often used with a view to decrease
the afterload and preload.
Surgical Treatment
Presence of an AVSD indicates need for operation, because
an important hemodynamic derangement is nearly always
present, and spontaneous closure does not occur. The
urgency of the repair is decided based upon the exact lesion.
An infant in good general condition can wait for the
repair till 2-4 months of age especially in an imperfect
scenario where we live. In the interval period a risk of
severe life threatening pneumonia remains and therefore
centers with excellent results would prefer to operate as
soon as detected. If the child has refractory heart failure or
severe growth failure at an earlier age, repair at that time is
indicated.
Pulmonary artery banding has been used only sparingly
in the recent years. It is done to decrease the distal
pulmonary artery pressures and relieve congestive cardiac
failure when there is high pulmonary blood flow from a
141
large left to right shunt and when corrective surgery is not
feasible (particularly in presence of anatomic variants such
as single left ventricle papillary muscle, relative hypoplasia
of left or right ventricle, etc. and often where the results of
primary repair in smaller children are not predictable).
However, patients with atrioventricular valve regurgitation
may worsen by increasing the ventricular afterload.
Furthermore, the band may distort the branch pulmonary
arteries and complicate subsequent corrective surgery. PA
band is not an innocuous operation as the critical balance
between decreasing distal pressure, cyanosis and decreased
pulmonary blood flow is rarely achieved and per-operative
and perioperative morbidity and mortality remains a concern.
Given our circumstances wherein the children are often
admitted with severe pneumonia complicated further by
nosocomial infections banding has been used in children
on prolonged ventilatory support to help in weaning off the
ventilator. Corrective surgery in the presence of active
infection in such sick neonates hardly succeeds because of
the added insult of cardiopulmonary bypass on the lung.
The approaches of banding has also not been an ideal one
because these children are already hypoxic because of the
lung infection and are unable to tolerate further hypoxemia
due to the band; extubation therefore remains a difficult
process and so does future behavior.
With increasing awareness, early operation and
predictable results in the future most complete AVSD’s
should survive with normal life expectancy. The objective
of complete repair includes closure of interatrial and
interventricular communications and construction of two
separate and competent atrioventricular valves from
available leaflet tissue with no AV regurgitation and no left
ventricular outflow obstruction.
Genetic Counseling and prenatal echocardiography may
help decreasing the incidence of this disease.
Acknowledgment
We are grateful to the publishers of Cardiology in the Young
(Greenwich Medical Media Ltd) for their kind permission
to reproduce figures from the article by Prof RH Anderson
wherein this article was published at the first instance
(Cardiol in the Young 1998;8:33-49).
142 Clinical Diagnosis of Congenital Heart Disease
SALIENT FEATURES
1. Complete atrioventricular septal defect (AVSD) has a
common atrioventricular junction with a common AV
orifice, a trifoliate left AV valve with a common fibrous
ring, partially shared valve leaflets, a large primum ASD
and in general a large inlet VSD (though this deficiency
may be variable).
2. The common AV valve has five leaflets, Attachment of
the superior bridging leaflet to the right side forms the
basis of Rastelli classification.
3. LVOT is vulnerable to obstruction. Lack of atrio-
ventricular septal structures and the central fibrous body
lead to abnormal AV conduction.
4. Clinical features depend upon size of VSD and severity
of AV valve regurgitation. Common presentations are
CHF and frequent respiratory infections. On
auscultation S1 is loud and single, S2 is widely split with
loud P2, S3 (LV or RV) is present with a pulmonary
ejection click and pan-systolic murmur over apex
conducted to left sternal border. Down’s syndrome is a
common association.
5. Irreversible pulmonary vascular disease develops early
in life, usually by 6-12 months of age (earlier in Down’s
syndrome).
6. ECG shows a superior axis with counterclockwise
depolarization, prolonged PR interval, left and/or right
atrial enlargement, incomplete RBBB pattern and LVH.
7. Chest X-ray shows cardiomegaly and increased
pulmonary vascularity. RA, LA and LV are enlarged.
8. Echocardiographic features are a large single AV orifice,
four chamber view shows primum ASD, inlet VSD and
the AV valve regurgitation.
9. Catheterization is indicated to assess reversibility in
presence of pulmonary vascular disease, when asso-
ciated defects are present and when a univentricular
pathway is being contemplated. LV angio shows the
typical gooseneck deformity of the LVOT.
10. Besides supportive therapy, early corrective surgery is
the definitive way of management.
 17 Congenital Aortic Stenosis
S Guha, M Satpathy

Definition
Congenital obstruction to blood flow from left ventricular
outflow tract to aorta is known as congenital aortic stenosis
(AS). This obstruction occurs at aortic valve level (valvular
type) in 75 percent of cases, subvalvular level (discrete
subvalvular type) in 23 percent of cases and supravalvular
level (supravalvular type) in 2 percent of cases (Fig. 17.1).
Hypertrophic obstructive cardiomyopathy causing dynamic
obstruction of left ventricular outflow tract belongs to
subvalvular type of obstruction which is considered as a
type of primary myocardial disease.

VALVULAR AORTIC STENOSIS

Fig. 17.1: Graphic presentation showing occurrence of
History different types of aortic stenosis

Campbell in 1968 mentioned that the physician of 16th

century were aware of aortic valve disease. Osler in 1886
described the bicuspid aortic valve in detail. First successful
valvotomy by using cardiopulmonary bypass was done by
Spencer in 1958. Balloon valvotomy was first performed
by Lababidi et al in 1984.
Incidence
Congenital aortic stenosis constitutes about 5 percent of all
congenital heart disease. Bicuspid aortic valve is estimated
to occur in 1 to 2 percent of general population. Valvular
aortic stenosis due to bicuspid aortic valve is the most
common cause (about 75% of cases) amongst all cases of
congenital aortic stenosis. Male predominance is observed
with sex ratio of 4:1. In pediatric age group aortic stenosis
is mostly congenital one, because rheumatic aortic stenosis
takes time to develop. Congenital aortic stenosis runs a
benign course till adulthood except in very few cases (about
10%) who are quite symptomatic in infancy (infantile or
critical form of aortic stenosis). It is sometimes familial
and appears to be of multifactorial cause. Incidence of
calcific aortic stenosis due to bicuspid aortic valve is high
in late adulthood.
Embryology
The aortic valve develops from swelling appearing from
left side of cono-truncus called bulbar chshion which
hollows out to form aortic cusps. Due to abnormal
development of bulbar cushions the aortic valve may be
deformed and the commissure may be absent. Some
authorities postulate the abnormal valve is due to localized
fibroelastosis of aortic valve. The other cause of aortic
stenosis is myxoid dysplasia of tricuspid or bicuspid valves
indicating remnants of embryonic myxomatus tissue that
could not be converted to connective tissue of the valve.
Abnormal Anatomy
The aortic valves are mostly tricuspid (seen in normal
individuals), next common is bicuspid aortic valve and then
 144 Clinical Diagnosis of Congenital Heart Disease

Figs 17.2A to C: Schematic diagram showing (A) normal

tricuspid valve, (B) bicuspid valve, (C) unicuspid valve (RCC—
right coronary cusp, LCC—left coronary cusp, NCC—non-
coronary cusp)
Fig. 17.3 A and B: Schematic diagram of aortic valve (arrow)
unicuspid valve which is uncommon (Fig. 17.2). (A) normal aortic valve, (B) thickened and domed stenotic
Quadricuspid and six cusps valve are extremely rare, though aortic valve (Ao—aorta, RA—right atrium, LA—left atrium, LV—
described in literature. Contrary to the common belief all left ventricle, RV—right ventricle)
bicuspid valves do not develop aortic stenosis (majority are
compatible with normal life), only 20 to 30 percent develop
stenosis. The two leaflets of bicuspid valves are unequal size, irrespective of site of obstruction. Normal aortic orifice
and a false commissure is seen in one of the leaflets. In area is 2.6 to 3.7 cm2. When the orifice size is reduced to
course of time due to high turbulent flow, aortic valve is 50% of its area, clinically systolic murmur is audible (not
thickened, fusion of cusps and commissures occur, which that the patient is symptomatic).
give rise to aortic stenosis. The valves appear dome shaped,
The Hemodynamic Classifications
the orifice in systole is slit like and eccentric, instead of
centrally placed round or oval shaped opening as seen in A. According to peak trans-valvular pressure gradient:
normal individuals (Fig. 17.3). Unicuspid valves having no 1. Trivial stenosis less than 25 mm of Hg
commissures are always pathological. They give rise to 2. Mild stenosis 25 to 50 mm of Hg
severe stenosis (critical stenosis) from intrauterine life. 3. Moderate stenosis 50 to 75 mm of Hg
Unicuspid aortic stenosis is also associated with other 4. Severe stenosis more than 75 mm of Hg
anomalies like hypoplastic left heart syndrome, coarctation B. According to the valve area (sq cm per sq m of body
of aorta and interrupted aortic arch. surface area) the classification of aortic stenosis is as
Calcifications do develop in course of time over normal follows:
tricuspid aortic valves in late adulthood or old age. In this 1. Normal valve area more than 2.6 (2.6 to 3.7)
age group aortic stenosis is due to calcification over normal 2. Mild stenosis 0.7 to 1.2
valve or over sclerosed valves causing aortic stenosis. 3. Moderate stenosis 0.5 to 0.7
Calcification develops in later life due to constant trauma to 4. Severe stenosis less than 0.5
aortic cusps, which causes sclerosis and calcification of
these cusps. Forgotten Hemodynamic
Criteria for Assessing Severity of AS
Common Associated Lesions
It is of historical interest for young physicians to know
1. Coarctation of aorta that only 3-decade back, the following criteria were taken
2. PDA to assess the severity of AS and accordingly patients were
3. Peripheral pulmonary arterial stenosis (rubella syndrome) subjected for cardiac catheterization and angiocardiography
(in pre-echocardiographic period) for further management.
Hemodynamics
1. Left ventricular ejection time index—more than 0.42 sec.
Hemodynamically significant obstruction occurs when the 2. Rate of rise of maximum systolic carotid arterial pulse
orifice size is reduced to less than one third of its normal less than 500 mm of Hg per sec.
 Congenital Aortic Stenosis
3. Time from q-wave of ECG to peak of R more than
0.19 sec.
If these criteria were satisfied aortic stenosis was said
to be severe.
In aortic stenosis the systolic pressure in left ventricle
is increased (because LV contract with greater force against
resistance at the LV outflow) but systolic pressure in aorta
and systemic arteries remains normal or low. This pressure
gradient varies between 10 to 200 mm of Hg according to
the severity of stenosis. Significant aortic outflow
obstruction leads to increase LV work that leads to LV
hypertrophy. Left atrium has to contract forcefully to fill
the hypertrophied non-compliant LV; increasing left atrial
a-wave. The duration of LV systole and ejection phases
are prolonged, so aortic valve closure is delayed and in
severe cases it closes later than pulmonary valve closure.
This causes paradoxical splitting of S2. Hypertrophied LV
causes more oxygen consumption for its metabolic activity.
On the other hand aortic obstruction leads to decreased
cardiac output, thereby coronary perfusion is decreased
(due to low aortic pressure and suction effect of aortic
sinuses, less blood enter through the coronary ostia).
Therefore, there is disparity in oxygen supply and demand,
which leads to myocardial ischemia and anginal pain. In
other words, coronary blood supply is disproportionately
decreased to meet the increased demand of hypertrophied
LV causing subendocardial ischemia or infarction.
Tachycardia due to any cause reduces the diastolic filling
period thereby coronary flow becomes less, which again
precipitates ischemia or infarction or rhythm problem in
severe AS. Therefore strenuous exercise in any form is
not advisable in severe AS.
Clinical Features
Clinical features depend on the severity of the aortic
stenosis. Accordingly cases are divided into two groups.
One, infantile type (having critical aortic stenosis), which
needs real emergency care and the other type is simple
aortic stenosis which is seen in any age group, run a
relatively benign course. Simple aortic stenosis is of three
types. They are mild, moderate and severe types.
Mild and Moderate AS
Symptoms
These patients are born with normal birth weight, milestones
of development are normal and they are usually
145
asymptomatic till adulthood. Patients having moderate AS
may complain of fatigability and dyspnea on exertion and
on examination if a systolic murmur over aortic area is
detected, one thinks of congenital aortic stenosis. Otherwise
healthy individuals having short ejection systolic murmur
over upper sternal border (both sides), if no symptoms are
present many times ignored as functional systolic murmur,
but they may have mild or moderate aortic stenosis. Dictum
is not to ignore any murmur and it is to be investigated,
until proved otherwise.
Signs
Pulse, blood pressure and pulse pressure are all within
normal limit. Apical impulse is normally felt. First heart
sound normally heard and second heart sound (S2) is
normally split. The prominent sound is an ejection click
(EC) audible over aortic area, also heard over apex. It is
due to sudden opening of thickened aortic valve and another
factor responsible for its production is sudden distension
of dilated aortic wall. This ejection click does not change
with respiration (constant). It is a high-pitched sound even
sometimes better heard than S1 over apex. A low-pitched
ejection systolic murmur 2-3/6 over aortic area (sometime
also heard over left upper second space) is audible which
is conducted to the carotids and also heard up to apex. An
early diastolic murmur of aortic regurgitation is present in
a significant number of children having AS.
Severe AS
Symptoms
These patients are usually symptomatic, on rare occasion a
few children having severe AS may remain asymptomatic
for some years. Some of these asymptomatic patients are
vulnerable to meet severe catastrophic episode like sudden
death when exposed to physical exertion. Symptoms
become apparent in adulthood in form of anginal pain (due
to decreased coronary perfusion), dyspnea (due to pulmo-
nary congestion) and syncopal attack (due to decreased
cerebral circulation) on mild to moderate exertion. Symp-
toms like dyspnea and fatigability indicate early LV
dysfunction.
Signs
Low volume pulse and low pulse pressure (usually less
than 20 mm of Hg) are usual findings. Sometimes anacrotic
pulse (slow rise) is also palpable (Fig.17.4B). In some cases
 146 Clinical Diagnosis of Congenital Heart Disease
Figs 17.4A and B: Carotid pulse tracing (A) normal, (B) slow
rising upstroke of of severe aortic stenosis. Arrow indicates
anacrotic notch
pulse in right arm and right carotid is better felt than left
hand or left carotid. It occurs due to powerful jet that is
directed straight into the right innominate artery so as to
build high pressure in right carotid and subclavian, this is
known as Coanda effect. Some patients with severe AS
may have normal blood pressure or occasionally high
systolic pressure, the exact cause being not known.
JVP shows prominent a-wave. It coincides with 4th heart
sounds (S4) and possible explanation for prominent a-wave
is decreased compliance of RV, because of gross LV
hypertrophy.
Note: This is one of the clinical conditions where a-wave is
very prominent without pulmonary hypertension.
Apical impulse is heaving type (that is forceful and
sustained due to severe LV hypertrophy). Systolic thrill is
felt over aortic area (both right and left side), which is also
well felt over carotids and suprasternal area.
First heart sound is normally heard, second heart sound
is normally split, sometimes single (A2 absent) and in some
cases reverse splitting (paradoxical splitting) occurs. In
severe AS aortic closure occurs later than pulmonary
closure so during expiration (not inspiration) the splitting
becomes apparent. This is known as paradoxical splitting
of second sound. It is commonly audible when severe AS
is associated with AR. Other causes of paradoxical splitting
are hypertension, coronary artery disease (CAD) and PDA.
Splitting of S2 may be heard in expiration in cases of pulmo-
nary stenosis and ASD, which may be falsely interpreted
as paradoxical splitting known as pseudo-paradoxical
splitting. Ejection click (EC) may be absent due to severely
deformed and immobile aortic valve. Severe the aortic
stenosis, closer the S1 ejection click (EC) gap, EC when
very close to first heart sound, may not be clinically audible
as a distinct sound. This is another cause of absent EC in
severe AS. S4 is commonly audible (due to decreased
distensibility of LV). Typical rough diamond shaped murmur
of grade 3-6/6 over aortic area and also over suprasternal
notch is audible, which is well conducted to carotid arteries
and also towards apex. This systolic murmur starts with
ejection click and ends with or just before second sound.
The severe the stenosis the longer and louder is the murmur
(as in case of severe PS with intact septum), but this, systolic
murmur may be faintly audible, when decreased cardiac
output or congestive heart failure occur. Short early diastolic
murmur of aortic regurgitation may be present in about
half of the cases over aortic area or second aortic area (left
third intercostal space) due to deformed valve or dilatation
of aortic ring.
There is an apparent correlation between hemodynamic
parameters with clinical symptoms and signs.
Clinical symptoms and signs Transvalvular
gradient in mm Hg
Symptoms
Easy fatigability more than 25
Anginal pain more than 50
Syncopal attack more than 80
Signs
Systolic thrill over aortic area More than 50
Paradoxical splitting (in children) More than 100
Paradoxical splitting (in adults) More than 75
Presence of S4 more than 50
Presence of Grade 2 murmur Less than 50 (mild)
Presence of Grade 5 murmur More than 50
Such correlation of symptoms and clinical signs with
pressure gradient has lost mush of its importance over last
two decades due to easily available echocardiographic
information.
Investigations
Electrocardiography
Electrocardiogram is normal in mild cases and also in about
half of the cases of moderate aortic stenosis. Left ventricular
hypertrophy (deep S in V1, V2 with tall R in V5, V6) is the
main feature in almost all severe cases. LVH with strain
pattern (LVH with ST-T changes like ST depression and T
inversion in V5, V6) indicate gradient more than 50 mm of
Hg (Fig. 17.5). Upright T in lateral leads indicate mild to
moderate stenosis. P-wave abnormality like left atrial P in
V1 is often seen in severe AS. Conduction defects are noticed
mainly as LBBB pattern, rarely as incomplete RBBB,
 Congenital Aortic Stenosis
Fig. 17.5: ECG of severe aortic stenosis showing left ventricular
hypertrophy with strain pattern (tall R with ST depression and
T inversion in I, aVL, V5 and V6)
depending on affection of conducting system by calcium
deposition. It is particularly seen in adulthood or late
adulthood.
Progressive changes in ECG warrant further study
and indicate increasing severity of the lesion.
Radiography
Cardiac silhouette is not enlarged in mild, moderate and
even most of the cases of severe AS. The shape of the LV
is usually changed in severe AS rather than the size.
Cardiomegaly is seen when congestive heart failure is
present in infants. Cardiomegaly in adults do not correlate
with severity of AS rather it indicates presence of AR.
Ascending aortic prominence due to post-stenotic
dilatation is an important finding of valvular AS in
adult patient (Fig. 17.6) and old age but not seen in young
children. Peculiarly, the post-stenotic dilatation does not
correlate with severity of AS. Presence of LA and LV
enlargement indicates LV dysfunction in long standing
severe aortic stenosis (may be associated with CHF).
Evidence of pulmonary congestion and enlargement of RV
and PA also indicate severe AS with LV dysfunction.
Calcification of different grades is seen in adulthood more
so in late adulthood and its incidence is age related.
147
Fig. 17.6: Chest X-ray of valvular aortic stenosis. Arrow
showing post-stenotic dilatation of aorta
Echocardiography
In m-mode echo the eccentric closure line, cuspal sepa-
ration, valve thickening and calcification are noted but this
method has become redundant due to diagnostic superiority
of 2D and Doppler echo.
In 2D echo, parasternal long axis gives accurate
information regarding thickening, calcification and mobility
of valve. Doming of leaflets is also characteristically seen
in this view. Parasternal long axis is useful for assessment
of aortic annulus, supravalvular part of ascending aorta,
the subaortic area and to see vegetation if present. Short
axis view helps in determining the number of cusps.
Presence of raphe in a bicuspid valve may be confusing in
diastole, but in systole while the valve opens, the bicuspid
valve can easily be diagnosed. Valve area can be planimetered
in short axis. Transeosophageal echo is more accurate for
obtaining valve area by planimetry.
In apical view CW Doppler is used to estimate pressure
gradient across the aortic valve. Both peak instantaneous
gradient and mean systolic gradient are calculated. In some
cases Doppler gradient is best obtained in right parasternal
view and occasionally in suprasternal view. Valve area may
also be calculated by combining 2D and Doppler data as in
continuity equation. In low cardiac output state valve area
calculation is more accurate than gradient estimation.
 148 Clinical Diagnosis of Congenital Heart Disease
A mean gradient more than 50 mm of Hg and a
peak gradient more than 60 mm of Hg across the aortic
valve is taken as severe AS. The other way of assessing
the severity of stenosis is measuring peak velocity of
flow in ascending aorta. Mild stenosis less than 3 m/s,
moderate 3 to 4.5 m/s and severe more than 4.5 m/s, a
valve area of < 0.75 cm2 is also taken as severe AS.
Transesophageal echocardiography is more accurate in
defining aortic valve anatomy and assessing severity then
transthoracic echocardiography.
Cardiac Catheterization and Angiocardiography
Only right heart catheterization was the routine procedure
till about 1960, then left heart studies with aortogram and
Figs 17.7A and B: Echocardiogram of aortic stenosis (A) short
axis showing bicuspid aortic valve (arrow) left panel in diastole
right panel in systole, (B) CW Doppler recording across aortic
valve showing high velocity flow with significant gradient
(A—Courtesy: Dr SK Sahoo, Cuttack)
pressure studies were mandatory till 1980. Since last two
decades advancement in echocardiography has replaced
cardiac catheterization and angiocardiography. However in
complicated cases when other congenital anomalies are
associated and in certain specific conditions before surgery
cardiac catheterization and angiocardiography are done.
Cases where balloon dilatation is indicated angiocardiography
is routinely done. LV angio and retrograde aortography well
delineate the aortic valve doming in systole with fused
leaflets. Pressure study shows the LV systolic pressure is
increased (in infants about 125 mm of Hg and in children
up to 280 to 300 mm of Hg in severe AS). Pressure gradient
is taken either simultaneously by placing separate catheters
in LV and ascending aorta or by pullback tracing from LV
to aorta (Fig. 17.8). Aortic valve area less than 0.75 cm2/
m2 and mean pressure gradient more than 50 mm of Hg
indicates severe AS. With presence of significant AR if
pressure gradient is more than 70 mm of Hg and with CHF
more than 30 mm of Hg, they are taken as severe AS. LV
angio and aortic root angio are also done to study LV
function to know LV hypertrophy pattern and AR. In infants
Balloon valvoplasty is indicated when peak to peak
systolic gradient exceeds 60 mm of Hg, valve area is
less than 0.5 cm2 /m2, ECG shows LVH with strain
pattern and mean systolic gradient by echo-
cardiography is more than 50 mm of Hg.
Fig. 17.8: Continuous withdrawal tracing
in various types of aortic stenosis
 Congenital Aortic Stenosis
Diagnosis
These patients are acyanotic, develop normally and on
examination have low volume and anacrotic type of pulse
(mainly in severe AS), LV apex, systolic thrill over aortic
area conducted to carotids are usual findings. On
auscultation A2 is diminished, sometimes S2 is paradoxically
split, prominent ejection click over aortic area well heard
up to apex and harsh ejection systolic murmur of grade 3-
5/6 over aortic area conducted to carotid vessels are salient
clinical features. X-ray shows post-stenotic dilation of
ascending aorta, ECG findings of LVH with strain pattern,
echocardiography showing doming of thick aortic valve
with restrictive opening in systole in the parasternal long
axis view, typical bicuspid valve in short axis and Doppler
confirming the gradient across left ventricular outflow tract
give the final diagnosis of valvular aortic stenosis with its
severity.
Differential Diagnosis
Common anomalies considered for differential diagnosis
of valvular aortic stenosis are:
1. Aortic stenosis of rheumatic origin: History of rheumatic
fever in childhood favors diagnosis of rheumatic AS.
Rheumatic aortic stenosis develops in late childhood or
in adulthood. So ejection systolic murmur over aortic
area appear late not from infancy or early childhood. It
is usually associated with mitral valve lesions. Ejection
click is not usually present (common in congenital AS)
and calcification of aortic valve is not seen before
adulthood.
2. Pulmonary stenosis: The systolic murmur over pre-
cordium during infancy and early childhood confuse
with valvular aortic stenosis. Pulmonary stenosis gives
rise to features of RV dominance (RV apical impulse,
left parasternal heave), diminished P2. In ECG right axis
and RVH present, whereas in aortic stenosis features
of LV dominance are present.
3. VSD: In infants and in early childhood VSD murmur
confuse with aortic stenosis murmur. A systolic thrill
over left sternal border (not on right side) with a
pansystolic murmur goes in flavor of VSD. Chest X-
ray showing increased pulmonary vascularity and ECG
with biventricular hypertrophy favors large VSD, but it
is 2D echo with Doppler easily differentiates these
conditions.
149
Complications
1. Congestive heart failure (in infancy and in late adulthood).
2. Infective endocarditis: It is the most common and deadly
complication occurring at any age group.
3. Sudden death (due to arrhythmias like VT and VF).
4. Cerebrovascular accident particularly in elderly patients.
Prognosis
Mild lesions are compatible with normal life. Calcification
may develop in adulthood or late adulthood and life
expectancy may be shortened. In moderate or severe cases
prognosis is guarded. In about 2 to 3 percent of
asymptomatic cases having moderate or severe AS, death
may occur suddenly. Overall life expectancy as stated by
Campbell in untreated cases is “60 percent die by the time
they reach age 40 years”. The obstruction is progressive;
the aortic valve area decreases gradually by an average of
0.12 cm2 per year. When symptoms occur, the valve area
is usually less than 0.75 cm2. The average longevity of a
patient having anginal pain is 5 years, with syncope 3 years
and with features of congestive heart failure, it is 1.5 years,
without surgery. Death in children is due to arrhythmias
(VT and VF triggered by myocardial ischemia), not due to
congestive heart failure. In contrast Infants having severe
(critical) aortic stenosis die mainly due to congestive heart
failure.
CRITICAL AORTIC STENOSIS
Critical aortic stenosis is defined when in an infant the peak
systolic gradient is more than 80 mm of Hg, mean systolic
gradient is more than 60 mm of Hg and valve area is less
than 0.5 cm2/m2 of body surface area (Nadas criteria).
Approximately 10 to 15 percent of patients of congenital
AS belong to this infantile group.
The clinical profile is totally different from infants and
younger children having no critical aortic stenosis. For
example—patients having severe but not critical aortic
stenosis have loud systolic murmur but infants having critical
AS may not have significant murmur. Patients having severe
congenital aortic stenosis usually run a relatively benign
course (not very symptomatic), whereas patients with
critical aortic stenosis, present a real emergency situation.
It is a common cause of intractable CHF in neonates
and infants (mainly due to infarction of papillary muscles
causing MR). It can be diagnosed during intrauterine life
 150 Clinical Diagnosis of Congenital Heart Disease

by fetal echocardiography. During fetal life no significant

hemodynamic changes occur as aortic flow is maintained
by ductus. A full term baby with normal birth weight
becomes symptomatic after some hours or a day of birth
due to closure of ductus arteriosus, which produce a low
output state.

Pathology
The aortic valve is usually unicuspid and thick with a small
eccentric opening. The LV cavity is small and associated
with endocardial fibroelastosis. In some cases LV cavity is
dilated secondary to MR (due to papillary muscle infarction).
This anomaly may be associated with hypoplastic left heart
syndrome. Persistence of ductus is essential to sustain life
after birth.
Clinical Features
Symptoms and signs of florid CHF are present after some
days to weeks of birth (depending on ductal closure). Even
on first day of life the neonate may be very symptomatic.
Pulse is of very low volume because of low output state.
The infant remains in a shock stage. Ejection systolic mur-
mur may not be audible over the precordium. Ejection click
is not present. In a few cases a faint systolic murmur over
right upper sternal border may be audible.
Investigations
Infants with critical AS show right axis deviation and RVH.
Radiological findings show cardiomegaly with inconspi-
cuous aortic shadow. 2D echocardiography with Doppler
is very specific and accurate way of showing the aortic
valve, severity of aortic stenosis and degree of MR, if present
(Fig. 17.9). Further, 2D echocardiography with Doppler
helps to differentiate HLHS from critical AS. It also helps
to detect extra cardiac lesions like aortic arch obstruction
and other anomalies. It has replaced cardiac catheterization
except in a few selective cases.
Differential Diagnosis
Anomalies having CHF in neonatal period come under
differential diagnosis of critical AS. They are: (i) hypoplastic
left heart syndrome (HLHS), (ii) primary endocardial
fibroelastosis, (iii) large VSD/PDA, and (iv) coarctation of
aorta.
Fig. 17.9: Echocardiogram in a patient with critical aortic
stenosis, short axis showing unicuspid aortic valve (arrow)
(Courtesy: Dr BK Mahala, Narayana Hrudayalaya, Bangalore)
1. HLHS: These infants usually have aortic stenosis/aortic
atresia with mitral stenosis/atresia. The main differen-
tiating features are huge cardiomegaly even on the first
day of birth and no evidence of LVH in ECG. 2D
echocardiography with Doppler confirms the diagnosis.
2. Primary endocardial fibroelastosis: Congestive heart
failure, very weak pulse, feeble heart sounds and no
murmur confuse the physician to diagnose clinically
between endocardial fibroelastosis and critical AS. 2D
echocardiography delineates the typical bright echogenic
area in endocardium and a normal aortic valve. Critical
AS may be associated with endocardial fibroelastosis
which has to be again differentiated.
3. Large VSD/PDA: Infants having large VSD or large
PDA may be confused with critical AS. Left ventricular
enlargement in ECG, cardiomegaly and increased
vascularity in X-ray go in flavor of large VSD or PDA.
In critical AS ECG shows right axis with RVH and
roentgenography does not show increased vascularity.
2D echocardiography with Doppler confirms the
diagnosis.
4. Coarctation of aorta: Although clinical presentation may
be similar, absent or diminished lower limb pulses
differentiate coarctation of aorta from critical AS. 2D
echocardiography with Doppler, confirms the diagnosis
by delineating the coarctation site and gradient across
it.
 Congenital Aortic Stenosis
SALIENT FEATURES
1. Valvular aortic stenosis due to bicuspid aortic valve is
the commonest cause of aortic stenosis, comprising 75
percent of total cases of congenital AS.
2. Patients of aortic stenosis are usually asymptomatic,
once symptomatic they have severe AS.
3. Syncope and anginal pain indicate severe AS.
4. Diminished A2, paradoxical splitting, Ejection Click (EC),
harsh ESM (3-5/6) over aortic area conducted to neck
vessels and ECG showing LVH with strain pattern are
characteristic findings of severe valvular AS.
5. Echocardiogram delineates thickening, doming and
number of cusps present, and the severity of aortic
stenosis is determined by the gradient across the valve.
6. In infants balloon dilatation is preferred, otherwise
surgical valvotomy is advised.
Critical AS
1. Neonates and infants become critically ill within a day
or two due to ductal closure.
2. Shock like features are present, hypotension (low
volume pulse) and cold periphery (low output state).
3. No murmur or no ejection click are audible (functional
aortic atresia).
4. Diagnosis is made by echocardiography showing the
severity of narrowing of aortic valve orifice, sometimes
pinhead size. RA and RV are enlarged with small
hypoplastic LA and LV.
5. Early transfer to a specialized care unit and immediate
catheter intervention is necessary to save the life.
SUPRAVALVULAR AORTIC STENOSIS
It is a localized or diffuse narrowing of ascending aorta
present over sinuses of Valsalva, just above the level of
coronary arteries. This anomaly is the least common type
occurring in 2-4 percent of cases of aortic stenosis but is
very often (20% of cases) associated with abnormal calcium
metabolism and infantile hypercalcemia (Williams
syndrome). It may occur in sporadic manner, with normal
facies and normal mental development or may be seen as a
familial autosomal dominant lesion. Supravalvular aortic
stenosis may be due to abnormal development of infolding
of aortic wall, which cause narrowing above the aortic
valve.
Cheevers in 1842 first described the abnormal anatomy
involved in this entity. Subsequently William described it in
detail in 1961.
151
Anatomical Types (Fig. 17.10)
1. Hourglass type (most common): It occurs as a localized
segmental hourglass narrowing above the aortic sinus
with thickening of media and fibrous intimal prolifiration.
2. Diffuse narrowing of ascending aorta.
3. Diaphragmatic or membranous type: Some patients have
localized fibrous membrane like structure, which causes
obstruction. It is very rare.
Pathology
In the diffuse type the main pathology is just above the
aortic sinus of Valsalva with diffuse narrowing involving
entire length and circumference of ascending aorta. There
may be aortic valve thickening. The same etiopathological
process may involve arteries at different sites producing
cerebral artery stenosis (causing cerebral infarction), renal
artery stenosis (causing hypertension), iliac and innominate
artery stenosis. Coronary arteries that remain proximal to
stenosis are dilated. Abnormal attachment of supravalvular
ridge to coronary ostia may cause ostial narrowing giving
rise to myocardial infarction. In infancy when Williams or
Rubella syndromes are associated diffuse involvement of
ascending aorta and pulmonary arteries are seen. Wall
thickening and luminal narrowing with diffuse arterial
changes are specific pathological changes of this syndrome.
Histopathological findings of aorta are described as mosaic
pattern by Edward. The lumen of the aorta may be reduced
to half of the size but clinically does not manifest, unless
more than half is obstructed.
In the membranous type a diaphragm like membrane
containing fibrous structure is seen. In hourglass type there
is an infolding of aortic wall containing all the three layers.
Clinical Features
Children with Williams syndrome present with mental
retardation and typical elfin facies. They are sometimes
symptomatic due to constipation or repeated vomiting (may
be due to abnormal calcium metabolism). Otherwise most
of the patients in pediatric age group come for evaluation
of a systolic murmur. Adult patients are often symptomatic
in form of exertional dyspnea and anginal pain.
Right arm pulse is better felt than left arm and blood
pressure over right arm is also higher then left arm
due to preferential flow of blood into right innominate artery,
 152 Clinical Diagnosis of Congenital Heart Disease
Figs 17.10A to C: Schematic diagrams of supravalvular aortic stenosis, arrows indicate
(A) hour glass type, (B) diffuse hypoplastic type, (C) membranous type
which is transmitted to right brachial (difference exceeds
more than 25 mm of Hg).
Note: This preferential flow or jet phenomena is known as
Coanda effect.
Systolic thrill over supra sternal notch and over carotids
are well felt. Apex is LV type, first heart sound is normally
heard, second sound in normally split with loud A2. No
ejection click is audible. Ejection systolic murmur 2-3/6 is
heard over right upper sternal border conducted to carotids.
In some cases early diastolic murmur is also audible due to
aortic regurgitation (aortic valve closure is inadequate or
cusp is deformed). When systolic murmur is widely audible
on both sides of sternal border pulmonary artery branch
stenosis is suspected. Clinical presentation and findings are
changed when associated with valvular or discrete sub-
aortic membrane (seen in about one third of cases) or when
associated with coarctation of aorta or pulmonary artery
branch stenosis.
Investigations
Electrocardiogram is within normal limit in the majority; in
some cases mainly in adults LVH is seen. Main radiological
feature is absence of post-stenotic dilatation of ascending
aorta. Echocardiography outlines the narrowing (obstruc-
tion) segment of aorta in parasternal long axis view and
also in suprasternal view. Pulse Doppler localizes the site
of obstruction and continuous wave Doppler assesses the
severity of the gradient across the obstruction. Peak instanta-
neous gradient above 60 mm of Hg when present across
the obstruction, surgery is advised. MRI is helpful to
diagnose in a better way than echocardiography particularly
in defining the anatomy and obstruction site. It also helps
for follow-up in postoperative cases.
Cardiac Catheterization and
Angiocardiography
LV is entered mainly through retrograde approach. No
pressure difference is noted between LV and ascending
aorta proximal to obstruction but with further withdrawal
of catheter a drop in pressure is observed. LV angio clearly
localizes the obstructing segment and assesses the severity
of supravalvular stenosis. VSD and other anomalies like
RV muscle bundle, which are suspected by echocardio-
graphy diagnosed clearly by LV and RV angio. Retrograde
aortography is helpful to assess aortic regurgitation and
confirm supravalvular aortic chamber and coronary artery
status. Coronary arteries are usually dilated and in children
its tortuosity is well delineated. A peak to peak gradient of
40 mm of Hg between LV and distal ascending aorta
indicates surgical intervention.
Diagnosis
Supravalvular AS is strongly suspected in a child with mental
retardation, peculiar Elfin facies. On examination there is
unequal pulse and blood pressure in both arms, loud A2, no
 Congenital Aortic Stenosis
ejection click and ejection systolic murmur 2-3/6 (not loud
murmur) over right upper sternal border. Diagnosis is
confirmed when there is pressure gradient between
immediate supravalvular area and the ascending aorta by
pulse Doppler echocardiography, catheterization and
retrograde aortography. In adults pulmonary stenosis,
pulmonary branch stenosis and rheumatic AS come under
differential diagnosis.
Associated Lesions
Coarctation of aorta, pulmonary stenosis, ASD and VSD.
Natural Course
Although these patients remain symptomatic for a long
period, sudden death is rarely reported. Surgery is the treat-
ment of choice but carries high mortality rate. Resection
of supravalvular obstruction and closure by Dacron patch
over aortotomy is the standard procedure.
SALIENT FEATURES
1. The child present with elfin facies, mental retardation
with unequal upper limb pulses (right more than left).
2. Loud A2, no EC and ESM 2-3/6 over right upper sternal
border conducted towards neck are the usual features.
3. Diagnosis is confirmed when there is pressure gradient
between immediate supravalvular area and the
ascending aorta by pulse Doppler echo.
4. Cardiac catheterization and angiocardiography is
required before surgery.
SUB-VALVULAR AORTIC STENOSIS
When the obstruction lies immediately within a few
millimeters below the aortic valve in the LV outflow tract it
is known as subvalvular type of obstruction or sub-aortic
stenosis. It is a complex condition whose etiology is not
clear but can be attributed to both congenital and acquired
elements. The obstruction caused by fibrous ring below
the aortic valve is attributed to persistence of a part of
bulbus cordis (congenital one) but the progressive nature
of the lesion is attributed to acquired one. It occurs in about
20 to 25 percent cases of aortic stenosis. Usually there is
male dominance with a ratio of 2:1. The prevalence of fixed
form of subaortic stenosis alone or in association with other
congenital anomalies is about 5 to 10 percent among all
congenital heart lesions. Familial inheritance is seen in some
153
cases. The first description of subvalvular aortic stenosis
dates back to 1842 by Chevers and first surgery for sub-
aortic stenosis was performed by Brock in 1956.
Types of Sub-aortic Stenosis (Fig. 17.11)
1. Fixed type
a. Discrete fibrous membrane. It is most common (80
to 85% of cases)
b. Fibro muscular type (tunnel form)
2. Dynamic type hypertrophic obstructive cardiomyopathy
(HOCM)/idiopathic hypertrophic sub-aortic stenosis
(IHSS).
Embryology
Discrete sub-aortic stenosis is due to incomplete evolution
of bulbus cordis. Persistence of embryonic bulbus cordis
gives rise to development of fibromuscular ridge at left
ventricular outflow tract. As it is familial, it may be related
to Mendelian inheritance pattern. Some postulate, it is due
to aberrant persistence of bulbus cordis and circular muscle
fibres in the outflow tract, which cause obstruction during
systole. Muscular hypertrophic sub-aortic stenosis is due
to localized hypertrophy of septal portion of LV outflow
tract.
Pathology
It is a progressive lesion mainly observed in cases of infants
and children. The membranous diaphragm encircles LV
outflow tract. Left ventricular outflow tract is short and in
its posterior border there is fibrous continuity between aortic
and mitral valves. This area of continuity is variable in length
and later becomes muscularized and separation of valves
occurs. Sometimes tissues derived from membranous septa,
tricuspid or mitral valve or cardiac tumors (Rhabdomyoma)
cause sub-aortic obstruction. Obstruction below the valve
results in high velocity jet producing constant trauma to
the valve that produces progressive aortic regurgitation in
about 30-40 percent of cases.
Clinical Features
Pulse and blood pressure are within normal limit. Apical
impulse is normally felt or LV type. Heart sounds are
normally heard, sometimes A2 may be diminished or absent.
No ejection click is audible. Ejection systolic murmur over
 154 Clinical Diagnosis of Congenital Heart Disease

Figs 17.11A and B: Schematic diagrams of subvalvular aortic stenosis, arrows indicate
(A) Discrete membranous type (B) Asymmetrically thickened ventricular septum, (IHSS)

right sternal border in second and third intercoastal space

and over second aortic area are audible. This murmur is
not conducted to neck vessels. However in discrete memb-
ranes type, due to very close proximity of membrane to
aortic valve, the murmur is often conducted to the carotids.
Mitral regurgitation is present in some cases. Early dias-
tolic murmur due to AR is also audible over aortic or second
aortic area due to deformed aortic valve in about 50 percent
of cases.

Investigations
Electrocardiogram is normal in the majority, only in severe
cases evidence of LVH is seen. Roentgenogram is often
Fig. 17.12: Echocardiogram in parasternal long axis, left panel
normal. In late cases left atrial and left ventricular shows sub-aortic discrete membrane (arrow), Ao—aorta,
enlargement is seen. Post-stenotic dilatation of ascending LA—left atrium, right panel shows an associated peri-
aorta is not a feature of discrete sub-aortic stenosis. membranous VSD on color Doppler interrogation (Courtesy:
Dr SK Sahoo, Cuttack)
Echocardiography
Echocardiography can differentiate a fixed form of sub-
It is the best non-invasive investigation to diagnose this
aortic stenosis from HOCM, where asymmetrical septal
condition with certainty. It demonstrates the discrete
hypertrophy and systolic anterior motion of mitral valve
membrane or long segment of narrowing of outflow tract
are characteristic findings.
in parasternal long axis view (Fig. 17.12). Transesophageal
echocardiography clearly delineates the discrete ridge
Cardiac Catheterization and
or the membrane in a better way. Cross-sectional
Angiocardiography
echocardiography in different views shows persistent and
prominent echoes in subvalvular area of left ventricular On left heart cardiac catheterization withdrawal tracing
cavity in both systole and diastole. Doppler helps to quantify shows characteristic low-pressure zone (Infundibular
stenosis and detect AR if present. Peak systolic gradient of chamber) between aortic valve and LV cavity and a systolic
40-50 mm of Hg is an indication for surgery. pressure gradient is demonstrated between the subvalvular
 Congenital Aortic Stenosis
Fig. 17.13: Withdrawal pressure tracing of sub-aortic stenosis
from LV to aorta. Arrow indicates pressure gradient in the sub-
valvular chamber
area and LV cavity (Fig. 17.13). Sub-aortic tunnel and
discrete membrane are well delineated in LV angiogram.
Aortic root angio shows presence of AR.
Diagnosis
When an previously asymptomatic patient presents with
complains of giddiness or exertional dyspnea and on
examination pulse is normally felt (not low volume) and
blood pressure is normal in both arms (no disparity), LV
apex, normally heard heart sounds, no ejection click and
ejection systolic murmur 2-3/4 is heard over aortic area
and also over left parasternal border and there is no post-
stenotic dilatation of ascending aorta on roentgenography,
clinical diagnosis of discrete sub-aortic stenosis is suspected.
There is no change in intensity of murmur on dynamic
auscultation. It is confirmed by 2D echocardiography with
Doppler study.
Associated Lesions
VSD (commonly peri-membranous type), coarctation of
aorta, interruption of aortic arch, AV septal defect, single
ventricle, TGA and Shones complex.
Differential Diagnosis
Subvalvular AS is to be differentiated from valvular AS.
Absence of ejection click and absence of post-stenotic
aortic dilatation flavor subvalvular AS.
Prognosis
Sub-aortic stenosis is a progressive lesion, so early surgery
is indicated. Recurrence is high due to proliferation of sub-
155
aortic tissue. Surgery is advised when gradient is more than
35 mm of Hg or when AR is present. Balloon dilatation is
not very successful because of inadequate relief and high
recurrence.
Guidelines for Management
Medical Management
Patients of congenital valvular aortic stenosis of mild to
moderate severity remain asymptomatic and grow normally
up to even late adulthood. These patients need no specific
treatment until they are symptomatic. The only advice is
infective endocarditis prophylaxis. Once a patient of aortic
stenosis is symptomatic it means aortic stenosis is severe.
These patients may develop arrhythmias or left ventricular
failure which need immediate medical management before
interventional procedure or surgery.
In infants and children, nowadays interventional
procedure, balloon valvuloplasty has replaced surgery for
all practical purposes. It was first tried by Lababidi in 1984
and subsequently it became a routine procedure in most of
the cardiac centers.
Surgical Management
Surgery is indicated when balloon dilatation fails, valvotomy
could not be done and if aortic regurgitation is moderate to
severe degree. Aortic valve replacement is done by a
mechanical valve (Starr Edwards), disc valve (Bjork-shiley),
homograft, aortic allograft or pulmonary autograft.
Surgery is mainly indicated in case of discrete sub-aortic
stenosis. It is done by resection of localize subvalvular aortic
tissue and repair of tunnel stenosis (if present) by Konno
operation. Similarly for supravalvular stenosis surgery is
done by classical repair or modified classical repair.
Management of critical AS in newborns and infants is
done on emergency basis in an advanced cardiac center.
Infants should be put in intensive care unit. Mechanical
ventilator; inotropic agents are used to improve hypo-
perfusion and combat shock like stage. When the anomaly
is duct dependent, prostaglandin E1 infusion is used to keep
the duct patent till surgery is done (Norwood procedure).
Sometimes immediate balloon valvotomy (balloon dilation
using coronary balloon catheter) or open valvotomy is
 156 Clinical Diagnosis of Congenital Heart Disease

advised knowing well, the high mortality rate. In some cases

2. No ejection click and ESM 2-3/6 may be better audible
a limited valvotomy is done to improve the clinical condition
over right parasternal border and second aortic area.
in a critically ill infant. EDM is often heard due to associated AR.
SALIENT FEATURES 3. 2D echo with Doppler confirms the diagnosis,
1. These patients remain asymptomatic for a long time delineating presence of subvalvular membrane or rarely
until the obstruction is severe. a long narrow segment of LVOT.

Congenital Aortic Regurgitation

M Satpathy

INTRODUCTION 3. Absent aortic valve where severe AR occurs even in

fetus, giving rise to non-immune hydrops.
Congenital Aortic Regurgitation (AR) occurs due to back
4. Quadricuspid aortic valve giving rise to AR. Acute AR
flow of blood from aorta to left ventricle during diastole
is commonly seen due to infective endocarditis involving
because of improper closure of deformed aortic valve and/
the aortic valve.
or due to dilatation of aortic root. Isolated AR is very rare.
Aortic regurgitation that develops slowly is known as ABNORMAL ANATOMY
chronic aortic regurgitation and if the onset is rapid, is known
The main pathology in bicuspid aortic valve is fusion of
as acute aortic regurgitation.
commissures, which restrict the mobility of cusps and also
prevents normal closure of aortic orifice during diastole.
ETIOLOGY AR associated with coarctation of aorta is due to associated
congenital bicuspid aortic valve. The other secondary
The causes of congenital chronic AR are:
changes that occur in chronic AR are LV dilatation and
1. Bicuspid aortic valve, it is the most common cause.
hypertrophy, ascending aortic dilatation and in late stages
2. Congenital aneurysm of sinus of Valsalva.
LA enlargement.
3. Aortic root dilatation.
4. VSD causing AR (aortic valve prolapse). HEMODYNAMICS
5. Rarely quadricuspid aortic valves give rise to AR.
The main hemodynamic change is LV volume overload.
6. Subaortic obstruction due to subvalvular discrete
LV receives its normal quota from left atrium and extra
membrane producing deformity of aortic valve causes
blood from aorta (due to back flow) during diastole. Because
AR.
large quantity of blood is received by LV, its behavior
7. Supravalvular AS behaves like hypertension and may
depends on its compliance and adaptive response. This is
cause AR.
controlled by the severity of AR and its mode of onset
8. Coronary artery to LV fistula.
(rapid or gradual). In chronic AR LV end diastolic volume
The main causes of severe AR are: is increased to accommodate large quantity of blood but
1. Large left coronary artery to LV fistula. end diastolic pressure remains normal until very late stage.
2. Aortico LV tunnel. In acute AR, LV end diastolic pressure increases rapidly
 Congenital Aortic Regurgitation
giving rise to increased pulmonary capillary pressure and
acute pulmonary edema. In chronic AR large volume of
blood is ejected by LV into aorta part of which again
regurgitates back (depending on severity) and part of it
only moves towards dilated peripheral vessels. This rapid
decline of pressure in peripheral vessels is the cause of low
diastolic pressure and so also wide pulse pressure.
CLINICAL FEATURES
Symptoms
Patients of chronic AR remain asymptomatic for a long-
time; dyspnea and palpitation on mild to moderate exercise
are many times ignored by the patients. Neck vein pulsation
and/or awareness of cardiac pulsation draw the attention
of the patient. Orthopnea, features of left ventricular failure
and anginal pain are late features occurring in chronic AR.
But in acute AR patient becomes symptomatic in a short
period in form of breathlessness (dyspnea), tachypnea and
sense of suffocation leading to orthopnea and pulmonary
edema. Anginal pain, neck pulsations are not usual
complaints in acute AR.
Signs
In case of chronic severe AR, on examination high volume
pulse with peripheral signs like water-hammer pulse,
Corrigan sign, Muller sign, Quinckes pulse, De Mussets
sign, Duroziez murmur, Pistol shot sound and Hills sign
are present. Pulse pressure is wide (systolic high and
diastolic very low). Apical impulse is LV type and forceful,
precordium is hyperdynamic. On auscultation first heart
sound is normally heard, aortic component of second heart
sound (A2) is diminished in intensity. Left ventricular S3 is
present in late stages. The characteristic murmur is long
blowing decrescendo diastolic murmur just after second
heart sound over left third intercostal space but well
audible all over the precordium up to the apex. An
ejection systolic murmur (2-3/6) is also audible over aortic
area due to increased flow across aortic valve. A short
mid diastolic flow murmur (Austin Flint murmur) is
present over apex in cases of chronic severe AR without
mitral valve abnormalities.
In case of acute AR pulse rate is increased, pulse volume
is normal to decreased, there are no peripheral signs, pulse
pressure is decreased (normal systolic with high diastolic
157
pressure), apical impulse is normally felt and precordium is
not pulsatile. On auscultation first heart sound is decreased
in intensity, aortic component of second heart sound is
normally heard and there is no left ventricular S3. A short
early diastolic murmur is audible. No ejection systolic
murmur or no flow MDM over apex (no Austin Flint
murmur) is heard.
INVESTIGATIONS
Electrocardiography
In case of chronic severe AR, QRS axis is normal or may
be towards left. Left ventricular hypertrophy (LVH) of
volume overload pattern (deep S in V1, deep narrow q with
tall R in V5-V6 and upright ‘T’ waves) is a constant feature.
In acute AR, there is sinus tachycardia and no evidence of
left ventricular hypertrophy present.
Radiography
Cardiomegaly (huge cardiomegaly in long standing cases)
with LV contour and prominent ascending aorta are main
features of chronic severe AR, whereas no cardiomegaly
with evidence of pulmonary venous congestion are features
of acute AR.
Echocardiography
Parasternal and apical long axis views give detail about LV
morphology and its function. In chronic AR, LV dimensions
are increased significantly. Diastolic flutter of anterior mitral
leaflet in M mode is a characteristic finding. Color Doppler
mapping shows severity of aortic regurgitation (Fig. 17.14).
In acute AR early closure of mitral valve is seen. LV
dimension is relatively normal in acute AR. Increased LV
end diastolic pressure is estimated from the AR Doppler
spectrum and sometimes from diastolic MR if present.
Cardiac Catheterization
Catheterization and angiography is necessary to exclude
other associated conditions before surgical intervention.
Retrograde aortography showing reflux of contrast from
aorta to LV in diastole establishes the diagnosis of AR and
also determines its severity.
DIAGNOSIS
Clinically AR is diagnosed with certainty by presence of
high volume pulse, wide pulse pressure, forceful apical
 158 Clinical Diagnosis of Congenital Heart Disease
Fig. 17.14: Echocardiogram of congenital aortic regurgitation,
left panel shows a regurgitant jet (arrow) in parasternal long
axis view, right panel shows a bicuspid aortic valve in short
axis, arrows indicate both leaflets of a bicuspid valve in open
position (Ao—aorta, LA—left atrium, LV—left ventricle)
impulse, hyperdynamic precordium and a characteristic long
blowing early diastolic murmur present over left third
intercostal space. When these findings are present from
infancy or in early childhood it is taken as congenital aortic
regurgitation (not of rheumatic origin). Echocardiography
confirms the diagnosis with its cause and severity and also
associated lesion if any.
DIFFERENTIAL DIAGNOSIS
Cardiac anomalies having prominent early diastolic murmur
over parasternal area come under differential diagnosis.
They are rheumatic aortic regurgitation and Pulmonary
Regurgitation (PR).
History of rheumatic fever with AR murmur usually
appears after five to six years of age. Associated mitral
valve lesions strongly flavors AR of rheumatic origin. PR
due to severe pulmonary arterial hypertension mimics AR
murmur. But the murmur following P2, absence of peri-
pheral signs and RV dominance differentiate PR from AR.
GUIDELINES FOR MANAGEMENT
Infants suffering from congestive heart failure are treated
with conventional decongestive therapy (Digoxin and
Diuretics). ACE inhibitors and vasodilators are used in mild
to moderate cases to reduce LV after load. Infective
endocarditis prophylaxis is also advised.
Fig. 17.15: Schematic diagram showing aortic-LV tunnel
(arrows) connecting the aorta (Ao) to left ventricle (LV), which
is dilated (LA—left atrium, RV—right ventricle, RA—right
atrium)
Symptomatic cases are advised for surgery. In asympto-
matic cases surgery is deferred until non-invasive parti-
cularly echocardiographic assessment dictate for surgical
intervention. When the lesion is progressive, valve replace-
ment is advised rather than repair of aortic valve. The type
of prosthesis and anticoagulants are important factors for
long-term result of the surgery.
Aortic Left Ventricular Tunnel
Synonym Aortic-left ventricular defect, aortico-left
ventricular tunnel.
Introduction
It is an abnormal tunnel communicating between the aorta
and LV cavity. It is an endothelized small communication
that begins above right coronary sinus, courses along
posterior aspect of right ventricular infundibulum to connect
with LV cavity (Fig. 17.15). The aortic sinus of Valsalva,
coronary arteries and aortic valves are not involved. This
anomaly was described in details by Levy in 1963. There is
male predominance with sex ratio of 3:1 (some series
reported even up to 10:1).
CLINICAL FEATURES
The symptoms and signs depend on the size of the tunnel
and degree of aortic regurgitation (AR) through the tunnel
(not valvular AR). It is one of the causes giving rise to
severe AR in infants. Infants present with congestive
heart failure, hyperdynamic precordium, LV impulse, loud
 Congenital Aortic Regurgitation
aortic second sound and a to and fro murmur over both
sides of upper precordium. The systolic murmur is due to
large volume of blood ejected through normal aortic valve
and the diastolic murmur which is loud, harsh and blowing
in nature is due to flow through the tunnel, so much so that
the murmur is audible during fetal auscultation. This aortic
regurgitation is diagnosed before birth by fetal
echocardiography.
INVESTIGATIONS
Chest X-ray shows cardiomegaly and dilated ascending
aorta. ECG shows left atrial enlargement and left ventricular
hypertrophy of volume overload pattern. Color Doppler
delineate the route of flow from aorta thereby differentiates
from congenital valvular AR. No retrograde systolic flow
occurs through the tunnel.
DIFFERENTIAL DIAGNOSIS
Neonates, infants or young children presenting with
significant AR one should think of aortico-LV tunnel.
159
Clinically coronary artery to LV fistula, VSD with AR and
rarely Quadricuspid aortic valve with severe AR come under
differential diagnosis of aortico-LV tunnel and can be
differentiated very well by echocardiography.
Echocardiography differentiate coronary artery to LV
fistula showing presence of abnormal coronary artery (in
aortico-LV tunnel coronary arteries are normal). VSD with
AR is differentiated by absence of left to right shunt,
Quadricuspid valve is identified by four cusps in short axis
view. LV angiocardiography and retrograde aortography is
done before surgery to delineate the exact anatomical
abnormalities.
GUIDELINES FOR MANAGEMENT
Congestive heart failure is treated with conventional
decongestive therapy and if hypotension is present with
inotropic supports. CHF itself is an indication for surgery.
Surgical closure of the defect and repair of the tunnel are
usual procedures.
 18 Coarctation of the Aorta
DEFINITION
Coarctation of aorta is an obstruction in the descending
aorta, located typically near the aortic attachment of the
ductus arteriosus or ligamentum arteriosum (Fig. 18.1). It
is basically a discrete localized constriction having a ridge
or shelf like structure arising from ductal end of the aorta.
HISTORY
Coarctation of aorta was first described by Johann Freidrich
Meckel in 1750. Morgagni in 1760 while conducting a
postmortem noticed constriction of the aorta a short distance
from the heart. Bonnett in 1903 identified two types of
coarctation, which he called infantile and adult types. First
repair of coarctation was done by Craford in 1945.
INCIDENCE
It is the fourth commonest congenital heart disease
occurring with a male to female ratio of 3 :1. 9 percent of
the children with congenital heart disease have coarctation
of aorta as a dominant lesion. It occurs in 0.2-0.6/1000
live births. Among the critically ill infants with congenital
heart disease, coarctation aorta accounts for 7.5 percent.
It shows multifactorial inheritance, where genetic factors
play important role. It is often seen in twins and first-degree
relations of affected children. Turner syndrome is
commonly associated with aortic coarctation. Environmental
factors (more seasonal occurrence) also play some role.
There is high incidence of coarctation of aorta in children
born from the mother suffering from Rubella syndrome.
EMBRYOLOGY
Abnormal development of the embryonic left fourth and
sixth aortic arches during sixth to eighth week of gestational
N Sudhayakumar, BSJ Nair, M Satpathy
Fig. 18.1: Schematic diagram of coarctation of aorta, thin arrow
shows the coarct segment, thick arrow points to a bicuspid
aortic valve, there is dilatation of left subclavian artery (LSA)
and left ventricular (LV) hypertrophy (Ao—aorta, RA—right
atrium, PA—pulmonary artery, DA—descending aorta, LA—
left ventricle, RV—right ventricle)
period give rise to coarctation of aorta. Two theories have
been proposed for the genesis of coarctation, one is ectopic
ductal tissue theory (Skodaic theory) and the other is
hemodynamic theory (Flow theory). Ectopic ductal tissue
theory proposes that coarctation develops as a result of
migration of ductal smooth muscle cells into the peri-ductal
aorta with subsequent constriction and narrowing of the
aortic lumen. Hemodynamic theory proposes that
hemodynamic disturbances that lead to reduction of volume
of blood flow through fetal aortic arch will produce
coarctation. In fetus the region of aortic isthmus (site of
future coarctation) separates aorta into two segments, a
proximal one receiving blood from left ventricle and a distal
one receiving blood from pulmonary artery through the
ductus arteriosus. The hemodynamic theory is more
acceptable since intra cardiac lesions, which reduce left
 Coarctation of the Aorta 161

ventricular outflow, like ventricular septal defect and left

ventricular outflow tract obstruction are more commonly
associated with coarctation.

CLASSIFICATION AND TYPES OF

COARCTATION OF AORTA
Classification
1. Bonnet classified coarctation of aorta into two groups
in 1903.
a. Infantile type: Proximal to aorto ductal junction with
patency of the duct.
b. Adult type: Distal to insertion of the arterial ligament
(ligamentum arteriosum), associated with collaterals.
2. Lev classified into two groups
a. Fetal coarctation: It is elongated, narrow and pre-
ductal.
b. Adult coarctation: It is localized and post ductal.
3. Recent classification: Three types of coarctation of aorta
are seen (Fig. 18.2).
a. Pre-ductal
Figs 18.2A to C: Schematic diagram showing different types
b. Para-ductal or juxta-ductal
of coarctation (arrow). (A) Pre-ductal, A-I. Waist lesion with
c. Post-ductal. closed duct, A-II. Discrete ductal shelf with isthmal hypoplasia,
This above classification is based on the site of A-III. Isthmal hypoplasia. (B) Juxta-ductal and (C) Post-ductal
coarctation in relation to the ductus arteriosus: pre ductal coarctation
when coarctation is proximal to ductus, juxta ductal when
coarctation is opposite to ductus and post ductal when
coarctation is distal to ductus. Pre-ductal coarctation is the and dilatation of distal aortic arch and proximal
commonest type. There are three types of constriction occur descending aorta. The condition is rare and also by itself
in this main pre-ductal lesion. (i) Isthmal hypoplasia. (ii) is a benign one. There is no significant gradient across
Discrete ductal shelf with Isthmal hypoplasia. (iii) Waist the kinking and there is no collaterals. Rarely it can be
lesions with closed duct (ligamentum). Juxta-ductal type is associated with aneurysm of distal aortic segment,
a rare condition. The isthmus joins end to side at the junction bicuspid aortic valve and dissection of ascending aorta.
of ductus and descending aorta. Contrary to the common 4. Reverse coarctation: In this condition upper limb pulses
traditional statement there are some reports that coarctation are not palpable but lower limb pulses are well palpable
of aorta is mainly juxta ductal (not pre-ductal or post-ductal). with lower limb hypertension. This is one form of
Takayasu’s arteritis where there is diffuse aortic
Types of Coarctation involvement including renal arteries but femoral arteries
1. Simple coarctation: Coarctation occurs without intra- are spared.
cardiac lesions with or without patent ductus arteriosus. 5. Functional coarctation: This occurs due to external
2. Complex coarctation: Coarctation associated with pressure on aorta either by mediastinal mass or tumor.
intracardiac lesions (like VSD/PDA/MR), it is seen 6. Multiple coarctations: When transverse arch is involved,
commonly in infantile or pre-ductal type. isthmic coarctation occurs and coarctation of descen-
3. Pseudo coarctation: Pseudo coarctation is kinking of ding aorta is also associated, multiple coarctations is
aorta near the ligamentum arteriosum due to elongation said to be present.
 162 Clinical Diagnosis of Congenital Heart Disease
7. Residual coarctation: Presence of an gradient across
coarct segment after repair is known as residual
coarctation. It may be due to inadequate surgical repair
or hypoplasia of isthmus of aorta.
8. Recurrent coarctation: When restenosis develops after
a successful repair.
9. Abdominal coarctation: It may be congenital due to
hypoplasia of abdominal aortic intima or acquired
secondary to either Takayasu’s arteritis or fibromuscular
dysplasia of abdominal aorta.
Common Associations of Coarctation
a. In infancy, lesions such as patent ductus arteriosus and
patent foramen ovale are considered as a part of
coarctation.
b. Common associated acyanotic lesions: Ventricular septal
defect, aortic stenosis (valvular), congenital mitral
stenosis and bicuspid aortic valve. Bicuspid aortic valve
is the commonest association seen in 23-85 percent of
cases. The valve may be stenotic in about 7 percent of
cases or the annulus may be hypoplastic. The peculiar
morphology of the valve is that often both the leaflets
are equal in size (unlike isolated congenital bicuspid
aortic valve). Congenital anomalies of mitral valve
apparatus are seen in 16-58 percent of cases of
coarctation. Endocardial fibroelastosis is a rare
association.
c. Associated cyanotic heart diseases: D-transposition of
great vessels with or without tricuspid atresia, Taussig-
Bing anomaly, AV Canal defects and truncus arteriosus.
Note: Coarctation is uncommon in tetralogy type of lesions
because of increased aortic flow.
d. Shone’s syndrome or complex: Shone’s complex is the
association of multiple left sided obstructive lesions
including coarctation of aorta. The other left sided
obstructive lesions are subaortic stenosis and congenital
mitral stenosis of supra valvular mitral rings and
‘parachute” mitral valve.
Extra cardiac associations of coarctation include
aneurysms involving aortic root, circle of Willis and
intercostal arteries, besides other lesions like dissection of
proximal aorta, retinal artery anomalies (like cork screw
tortuosity producing ‘U’ shaped arterioles with serpentine
pulsations synchronous with arterial pulse) and reverse
vertebral artery flow to a subclavian artery producing
subclavian steal syndrome (when subclavian artery
originates distal to coarctation).
HEMODYNAMICS
Fetal Life
During fetal life descending aorta gets a large amount of
blood from RV (through the ductus arteriosus) and
ascending aorta receives a relative small amount of blood
from LV. Fetal circulation is not much altered by presence
of coarctation.
After Birth
After birth with closure of ductus and foramen ovale, the
entire cardiac output has to cross the coarctation segment;
so it hemodynamic effect depends on severity of
obstruction at the site of coarctation and also its associated
lesions. When there is significant obstruction, LV has to
work more to push the blood to circulation to maintain the
cardiac output. LV pressure and aortic systolic pressure
increases. The pressure gradient between the ascending
aorta and descending aorta indicates the severity of
coarctation. This may be less than 20 mm of Hg (which is
mild) to as high as 60-70 mm of Hg (severe). The pressure
gradient persists during both the phases of cardiac cycle.
When coarctation is severe with closure of PDA, the infant
develops severe congestive heart failure. Because of
increased LV systolic and also LV end diastolic pressure,
LA pressure increases, this leads to pulmonary congestion.
The neonatal myocardium lacks the normal sympathetic
innervation and has decreased sympathetic beta-receptor
density, which again leads to decreased compensatory
mechanism resulting in early LV dysfunction. Additional
lesions like large VSD, PDA or mitral regurgitation will
increase the left ventricular end diastolic volume and end
diastolic pressure, which precipitate congestive heart failure
and lead to pulmonary arterial hypertension. Association of
any of these lesions with coarctation is known as complex
coarctation. Patients with post ductal coarctation and
hypoplasia of aortic arch, when associated with systemic
RV pressure with right to left shunt through PDA, this
clinical condition is known as coarctation syndrome.
Infants who survive the early crisis develop left ventri-
cular hypertrophy (LV compensate for the obstruction) and
 Coarctation of the Aorta
blood flow to the lower limb increases by development of
collaterals. Therefore the hemodynamic changes are not
significant in childhood and adolescent period, for this reason
these patients remain relatively asymptomatic.
CLINICAL FEATURES
Neonates and infants
Symptoms
Some neonates present with symptoms of tachypnea,
sweating particularly during feeding and irritability, all these
indicate that the neonate has developed congestive heart
failure even in the first week of birth. Most of these infants
die due to shock, renal failure or necrotizing enterocolitis.
Survivals of these infants have been revolutionalized by
resuscitation and management with prostaglandin E1 to keep
the duct patent. Those who survive early crisis, they become
gradually asymptomatic and attend adulthood.
Signs
Pulses in the upper limb are palpable and lower limb pulses
are diminished, so long antegrade flow from ductus
continues, once the ductus closes lower limb pulses are
absent. Blood pressure is measured by flush method or
Doppler method.
Note: Absent lower limb pulses and palpable upper limb
pulses with marked blood pressure difference is the hallmark
of diagnosis of coarctation of aorta.
Tachypnea, mottling skin, peripheral cyanosis and
hepatomegaly are common features (all due to low cardiac
output and congestive heart failure). In infants, RV impulse
is felt and on auscultation, a gallop sound and a short systolic
murmur over left upper sternal border and over back is
audible. If ejection click is heard it indicates presence of
associated bicuspid aortic valve. From late infancy a
continuous murmur may develop and audible over areas
underlying coarct segment. When coarctation is severe no
murmur is audible, because cardiac output is decreased.
Children and Adults
About two-third cases of coarctation are free from symp-
toms and grow normally up to adulthood. The general
163
appearance may be of Turner phenotype or athletic
appearance with muscular nature of upper half of body
and relative thinning of lower half. The reason being the
coarct segment is not severe or PDA persists for a long
period which gives scope to develop adequate collaterals.
COLLATERALS IN COARCTATION
Coarctation of aorta leads to the development of the collateral
channels between the pre and post coarct segment of the
aorta, designed to flavor near normal flow to the lower half
of the body. They may be seen on inspection around
scapulae, shoulders and sternal borders. The important once
are (Fig. 18.3):
1. Superior intercostal artery arising from subclavian artery
gives collaterals to posterior intercostal branches of
descending thoracic aorta.
2. Intercostal arteries arising from internal mammary
arteries communicate with intercostal arteries arising
from the post coarct segment of aorta.
3. Superior epigastric branch of internal thoracic artery
communicates with inferior epigastric branch of
femoral artery.
4. Communications between axillary arterial system and
descending aorta and communications between anterior
spinal artery and intercostal arteries are also present.
Upper limb hypertension of varying degrees occur in
coarctation of aorta. There are three theories for the genesis
of hypertension—mechanical, neural and renal. Mechanical
theory proposes that resistance to circulation at the zone of
coarctation leads to disproportionate upper limb
hypertension. Neural theory focuses on the distensibility of
precoarct segment of aorta. Elevated driving pressure in
the proximal aorta during early infancy will reset the
baroreceptors to a higher basal rate, which leads to
hypertension. A third mechanism advanced to explain
hypertension is of renal origin; which states that renal arteries
originating from the lower pressure postcoarct aorta will
lead to reduced renal blood flow with subsequent activation
of rennin angiotensin aldosterone system. The hypertension
in coarctation is associated with a low incidence of other
vascular diseases. Hypertension may persist or appear
later after a successful surgery because changes in
vascular reactivity, arterial wall compliance and abnormal
barorecepter reflex function persists even after the
obstruction is corrected.
 164 Clinical Diagnosis of Congenital Heart Disease
Fig. 18.3: Schematic diagram of coarctation of aorta, bold arrow
points to the coarctation segment, thin arrow shows a bicuspid
aortic valve. Different sites of collateral circulation are depicted
(1—spinal artery, 2—vertebral artery, 3—transverse cervical
artery, 4—transverse scapular artery, 5—intercostal arteries,
6—right internal mammary artery, 7—left internal mammary
artery, 8—lumbar artery, 9—inferior epigastric artery, LS—left
subclavian artery, Ao—aorta, LA—left atrium, LV—left ventricle,
RA—right atrium, RV—right ventricle)
Note: Hypertension due to coarctation has certain exceptions.
Although hypertension is very common, the incidence of
hypertensive retinopathy or papilledema is rare. Retinal
arteries show corkscrew appearance and serpentine
pulsation. Similarly the incidence of toxemia of pregnancy is
also less in coarctation of aorta. Pregnancy has a dual effect
on coarctation. The risk of congestive heart failure is reduced
where as risk of infective endocarditis; intracranial hemorrhage
and aortic rupture are increased.
Symptoms
Minor symptoms are epistaxis, headache (both due to
hypertension), leg fatigue, intermittent claudication and cold
lower limbs. Some children are aware of their neck
pulsations. In some cases hematemesis occur due to rupture
of post coarctation aneurysm to esophagus. Dysphagia is
a rare symptom, caused by abnormal origin and course of
right subclavian artery behind the esophagus. Major
symptoms are usually due to the complications of long
standing hypertension. Intra cranial hemorrhage may occur
due to rupture of aneurysm of circle of Willis. The
dissection or rupture of proximal ascending aorta leads to
hemopericardium or bleeding into esophagus, presenting
as hematemesis. Premature coronary artery disease due to
facilitated atherosclerosis of coronaries is also observed in
coarctation of aorta.
Signs
Abnormal difference between upper and lower limb pulse
is the hallmark of diagnosis. Normal sequence of pulse
appearance is brachial followed by femoral and then radial.
Any delay of femoral pulse is abnormal indicating
coarctation. In fact it is not delayed arrival of pulse in
femorals, instead a slow rate of rise with a delayed peak is
the cause. Pulsations over second and third sternal space
on right side if present, signifies, dilated ascending aortic
pulsation. Visible pulsation associated with systolic thrill
over suprasternal area and over carotids may occur due to
aortic coarctation. Again visible and palpable pulses over
infraclavicular and interscapular areas (both sides) are seen
due to collaterals.
Coexisting aortic regurgitation, patent ductus arteriosus
and other hyperdynamic circulatory states, reinforce lower
limb pulse leading to apparent normal nature so the
difference between upper and lower limb pulse is not felt.
On the other hand coexisting aortic stenosis or congestive
heart failure decrease ascending aortic systolic pressure
there by evidence of coarctation is obscured.
Note: Coarctation of aorta amplifies brachial pulse and
obscures signs of aortic stenosis whereas; aortic regurgitation
amplifies femoral pulse and obscures signs of coarctation.
Diminished left brachial pulse should raise the suspicion
of pre subclavian coarctation whereas diminished right
brachial pulse suggest an aberrant origin of right subclavian
artery distal to coarctation. When both brachial pulses are
diminished, anomalous origin of right subclavian artery distal
to coarct along with obstruction to the origin of left
subclavian artery has to be considered. In setting of
coarctation, if the femorals appear normal, pseudo
coarctation can be suspected. Forceful carotid and
suprasternal pulsations increasing with exercise is another
 Coarctation of the Aorta
important feature of coarctation. Low volume and weak
pulses and low blood pressure in all four limbs suggest
coarctation is proximal to both subclavians but it becomes
difficult to diagnose coarctation on clinical grounds without
investigation like aortogram, which confirms the diagnosis.
On examination in children apical impulse is normally
felt but as age advances apical impulse becomes left
ventricular and heaving in nature. Pulsation over second
and third interspaces on the right side if present indicates
presence of a dilated ascending aorta. Suprasternal or carotid
pulsations are present in isolated coarctation but the presence
of a systolic thrill is unusual and when present indicates
associated aortic stenosis. Prominent collateral pulsations
may be palpable in the intercostal or interscapular areas.
On auscultation first heart sound is normal, S2 is normally
split. A2 is often prominent and ringing quality (because of
hypertension). An aortic ejection click when audible over
the apex or aortic area indicates presence of bicuspid aortic
valve. Presence of a fourth heart sound indicates left
ventricular hypertrophy. An ejection systolic murmur (2-
3/6) may be heard at the upper left sternal border radiating
to inter scapular area posteriorly. It indicates flow across
the coarct segment. Ejection systolic murmur at base may
be heard due to associated bicuspid aortic valve. Collaterals
may also produce ejection systolic murmur or continuous
murmur over the chest anteriorly, laterally and posteriorly
(known as Suzmann’s sign). A ventricular septal defect
or mitral regurgitation when present produces a
characteristic pansystolic murmur at the lower left sternal
border. A soft high frequency continuous murmur may be
heard over the upper thoracic and mid thoracic spines which
indicates well developed collaterals due to significant
coarctation of aorta. In the presence of bicuspid aortic valve
a soft blowing decrescendo early diastolic murmur may be
heard over left third and fourth sternal border due to aortic
regurgitation. A murmur over the lumbar spine indicates
abdominal coarctation.
INVESTIGATIONS
Electrocardiography
Infants usually have normal ECG (normal right ventricular
dominance pattern). If findings of left ventricular
hypertrophy with strain pattern are observed, it suggests
presence of associated aortic stenosis or endocardial
165
fibroelastosis. In older children and adults features of left
ventricular hypertrophy may be evident (Fig. 18.4).
Note: Left axis deviation in coarctation indicates presence of
associated anomalies like AV canal defect, double outlet right
ventricle or primary myocardial disease. In neonates and
infants RVH or RBBB pattern is common in isolated coarctation.
A persistent right ventricular hypertrophy beyond infancy may
suggest associated lesions like ventricular septal defect or
mitral stenosis producing pulmonary hypertension.
Radiography
In asymptomatic infants and young children chest X-ray is
usually normal. In infants with congestive heart failure
moderate cardiomegaly and pulmonary venous hypertension
may be evident. Vascularity may be increased if associated
with left to right shunts. Later in the course of disease, a
dilated left subclavian artery and the coarct segment with a
dilated descending aorta gives the classical radiological
appearance of ‘figure of 3’ due to pre and post stenotic
dilation (Fig. 18.5).
Rib notching may be found in older patients, but
uncommon in children less than 5 years of age. This is
seen on the inferior border of posterior ribs (common from
third to eighth ribs) as scalloped areas known as “Dock’s
sign”, it is due to collateral flow through dilated tortuous
posterior intercostal arteries. It is classically bilateral but
rarely unilateral if one subclavian artery is stenotic or arises
Fig. 18.4: ECG of coarctation of aorta showing left
ventricular hypertrophy with strain pattern
 166 Clinical Diagnosis of Congenital Heart Disease

Echocardiography
Suprasternal long axis view delineates coarctation as a
localized narrowing of thoracic aorta beyond the origin of
left subclavian artery. The posterior shelf appears as a thin
fibrous membrane protruding from the posterior aspect of
the aorta. Diminished systolic pulsation of descending aorta
and post stenotic dilatation confirm the presence of
significant coarctation. Doppler study in continuous wave
mode will detect high velocity across the coarct. High
velocity flow persists in diastole which is called diastolic
tail depending upon the severity of coarctation. CW spectral
flow helps in determining gradient across the coarct segment
(Fig. 18.6). However the expanded Bernoulli’s equation is
used without ignoring the proximal velocity. The mitral and
aortic valves should be examined thoroughly and LV function
Fig. 18.5: X-ray chest of coarctation of aorta, vertical arrows
indicate bilateral rib notching, horizontal arrow indicate figure
of ‘3’ appearance (Courtesy: Dr V Gouthami, NIMS,
Hyderabad)

distal to coarctation. This unilateral rib notching is to be

differentiated from notching due to classical Blalock-Taussig
shunt. Barium swallow film may be helpful if chest X-ray
does not show a classical ‘3 sign’. The barium filled
esophagus may be visualized as an “E sign’ in a LAO
projection. This is also called a ‘reverse 3 sign’, caused
by indentation of the esophagus by the dilated aorta proximal
and distal to coarctation.

Note: For academic interest other causes of rib notching are

(a) collateral intercostal venous dilatation secondary to
superior venacaval obstruction (b) intercostal nerve tumors
associated neurofibromatosis (c) notching of lower ribs may
be rarely seen in thrombosis of abdominal aorta (d) severe
aortic regurgitation with aortic arch syndrome.

Unilateral rib notching in left side and weak pulse in the

right upper limb is present when right subclavian takes origin
from descending aorta distal to the coarctation. Similarly,
rib notching only on right side and presence of weak pulse
on left upper limb, indicate coarctation is proximal to or at
the site of left subclavian artery.
Fig. 18.6: Echocardiogram of coarctation of aorta, left panel—
arrow shows coarct segment in suprasternal view, right panel
Note: Rib notching is not found in upper three and last three shows pressure gradient across coarct segment by CW—
ribs, because these intercostal arteries do not form Doppler interrogation (Courtesy: Dr BK Mahala, Narayana
anastomosis with internal mammary artery. Hrudayalaya, Bangalore)
 Coarctation of the Aorta 167

to be assessed accurately because prestenotic lesions (mitral

or aortic stenotic lesions) may be underestimated. It is
necessary to assess the size of transverse aortic arch
because it is often stenotic or hypoplastic.

Magnetic Resonance Imaging

Images in sagittal and parasagittal planes clearly detect
coarctation, anatomy of aorta, any other associated ano-
malies, presence or absence of patent ductus arteriosus
and collaterals (Fig. 18.7). It has definite place in follow up
of cases mainly after balloon dilatation and to visualize any
aneurysm, if developing in course of time.

Cardiac Catheterization and Angiography

Cardiac Catheterization is indicated to define anatomy
(location and extent), severity of coarctation, functional
status of patent ductus arteriosus (patency and flow
pattern), extent of collaterals and other intracardiac lesions.
It is also helpful in assessing left ventricular function,
Fig. 18.7: MRI picture of coarctation, black arrow shows coarct
pulmonary artery pressure and resistance. Angiography segment and white arrows indicate collateral vessels
(particularly selective angiography and aortography) is useful
for evaluating coarctation and aortic arch anatomy
(Fig. 18.8). Left ventricular angiography will assess LV
function, status of mitral valve; inter ventricular septum,
left ventricular outflow tract and aortic valve. When aortic
stenosis is present there is systolic pressure gradient between
LV and ascending aorta and further gradient also present
between ascending aorta and descending aorta.

DIAGNOSIS
In an acyanotic neonate with symptoms and signs of
congestive heart failure a physician should suspect
coarctation of aorta (pre-ductal type) and in this setting if
upper limb pulses are palpable and lower limb pulses are
diminished or absent it confirms the diagnosis. The diagnosis
of adult type of coarctation of aorta is more easy. It is the
well palpable upper limb pulses and increased blood pressure
in contrast to not palpable or weaker lower limb pulse Fig. 18.8: Aortogram showing classical coarctation, arrow
without recordable blood pressure or with a lower blood shows narrowing of aorta distal to a dilated left subclavian
artery
pressure suggest coarctation of aorta. The carotid pulse is
well felt, apex is LV type and forceful, second heart sound
is loud, ejection systolic murmur over left base and left hypertension in infants and in adults bilateral notching of
interscapular area suggestive of presence of coarctation ribs with ECG showing LVH further strengthen the
besides associated bicuspid aortic stenosis. Radiological diagnosis. Echocardiography, cardiac catheterization and
features of cardiomegaly with pulmonary venous angiography confirm severity and extent of coarct segment.
 168 Clinical Diagnosis of Congenital Heart Disease
DIFFERENTIAL DIAGNOSIS
The following clinical conditions come as differential
diagnosis for coarctation of aorta.
1. Infants presenting with large VSD and Large PDA.
2. Adults having essential hypertension with peripheral
vascular disease and ‘nonspecific aorto arteritis’ are to
be differentiated.
In infants when congestive heart failure is present it is
difficult to differentiate coarctation of aorta from large VSD
as both radial and femoral pulses are weak. Radiological
feature of increased vascularity in infants go in favor of
large VSD.
Similarly large PDA with congestive heart failure in
infancy may be confused with coarctation. But bounding
pulse in both upper and lower limbs favors PDA.
It is echocardiography that differentiates between VSD,
PDA and coarctation of aorta.
Conditions having hypertension with asymmetrical
peripheral pulse may be confused with coarctation of aorta.
Presence of peripheral vascular disease with hypertension
of other etiology may cause weak pulse in one or more
limbs. However age of the patient, the characteristics
brachio-femoral delay and other investigations easily
differentiate between coarctation of aorta and peripheral
vascular disease.
‘Nonspecific aorto-arteritis’ is often confused with
coarctation. But weakness of upper limb pulses including
carotid arteries, presence of bruit over carotids or
subclavian or abdominal aorta and other systemic manifes-
tations help in differentiating these two conditions.
COMPLICATIONS
The complications are:
1. Congestive heart failure mainly develops during infancy,
if the baby survives the crisis, gradually improves as
age advances. If coarctation remains uncorrected,
congestive heart failure may develop in later age.
2. Rupture or dissection of aorta, mainly ascending aorta
usually occurs on an average age of 25 years.
3. Infective endocarditis or infective endarteritis. It can
occur at any age and may give rise to saccular
aneurysm.
4. Cerebral hemorrhage, due to hypertension causing
rupture of aneurysm of circle of Willis or rupture of
berry aneurysm (sub-arachnoids hemorrhage). Preg-
nancy increases the risk of aortic rupture and also
intracranial hemorrhage.
5. Premature coronary artery disease.
PROGNOSIS
Long-term prognosis of coarctation is adversely affected
by systemic hypertension and premature atherosclerosis
of coronaries. An aortic aneurysm developing at the site of
coarctation may progress rapidly and may be responsible
for rupture and sudden cardiac death. The mean age of
death is 31 years in those who have completed their infancy
and continuing without surgery. Three fourth of the cases
die by 46 years of age. In infants with congestive heart
failure survival rate at one year is only 16 percent. The
common causes of death in infants is congestive heart failure
and in adults hypertension causing rupture and dissection
of aorta. This is more commonly seen following prosthetic
patch aortoplasty. Other conditions affecting long-term
outcome include intracranial aneurysms, aortic dissection
and subclavian steal syndrome. Infective endocarditis may
occur in the bicuspid aortic valve or associated cardiac
lesions or just distal to the coarctation segment. Long-term
mortality and morbidity are influenced largely by presence
of other associated intracardiac lesions.
GUIDELINE OF MANAGEMENT
Medical Management
Medical management of congestive heart failure with
decongestive therapy (digoxin and diuretics) and inotropic
supports if necessary are advised to stabilize most of the
sick infants. A critically ill infant may require prostaglandin
E1 infusion to maintain ductal patency. Associated metabolic
derangements are corrected. Once the infant is stabilized,
surgical repair can be contemplated.
Catheter Intervention
Percutaneous balloon angioplastic procedure was started
in 1982. The role of balloon angioplasty as a primary proce-
dure for coarctation is controversial but accepted as a
management strategy in recurrent coarctation. However
 Coarctation of the Aorta
gradually in many centers it is being accepted as an
alternative procedure to surgery. The accepted general
criteria for angioplasty is discrete lesion, upper limb
hypertension and resting gradient across coarct segment
more than 20 mmHg. Advantage of this procedure is to
avoid thoracotomy but if carefully not done complications
may create further problem.
Surgical Management
The first surgical repair was done in 1945 by Crawford.
Elective repair of coarctation (when systolic pressure
gradient > 20 mmHg between arms and legs) is usually
done at 2-3 years of age. If repair is done below 2 years of
age the chance of recurrence of coarctation is more. On
the other hand if surgery is done in older children
complication like CNS bleeding and endarteritis are more.
Various surgical procedures like end-to-end
anastomosis, prosthetic patch aortoplasty, subclavian flap
aortoplasty, bypass grafts between ascending and
descending aorta are followed in different institutions.
Mortality from surgery is about 5-15 percent. Morbidity
includes postoperative paradoxical hypertension, spinal cord
paralysis, recurrent laryngeal or phrenic nerve injury,
bleeding and infection. Prognosis after successful repair is
excellent. Normal growth and development of child occurs.
A residual gradient of about 10 mm of Hg across the coarct
is usual and in such situations, heavy isometric exercises
are to be avoided by patients.
169
Note: Paradoxical hypertension usually occurs by 2nd or 3rd
postoperative day and is related to rebound activation of RAA
system. This can be prevented by beta-blocker therapy.
SALIENT FEATURES
1. Coarctation of aorta is classified into three types: (i)
pre-ductal, (ii) juxta-ductal and (iii) post-ductal.
2. Acyanotic neonates with CHF when pulses are not felt
or are of very low volume, infantile CoA is strongly
suspected.
3. Patients having absent pulses in lower limb and high
volume pulses in upper limb are diagnosed clinically
as CoA. Brachio-femoral delay if present, coarctation
of aorta is also strongly suspected till otherwise
disproved.
4. ESM 2-3/6 over right base and interscapular area is
audible due to bicuspid aortic valve or due to the coarct
segment, but presence of ejection click indicates
associated bicuspid aortic valve.
5. Chest X-ray showing bilateral rib notching in older
children and adults (mainly 3rd, 4th and 5th) and ‘fig-3’
sign suggest CoA.
6. ECG shows RVH in neonates, but in children and adults
LVH is present.
7. 2D echo with Doppler demonstrate the site and the
degree of narrowing of coarct segment.
8. Cardiac catheterization and angiocardiography is
routinely done before surgery.
9. Severe CoA is managed by surgery. Nonsurgical
balloon angioplasty is still to prove its place in routine
management.
 19 Aneurysms of Sinuses of Valsalva
UA Kaul, J Yusuf

DEFINITION detail by Thurnam in 1840, who designated the sinuses as

The three sinuses of Valsalva are located in the most proximal
portion of the aorta, just above the cusps of the aortic valve.
These are pocket like spaces constructed from the three
aortic cusps and the adjacent aortic wall which is somewhat
dilated, forming three bulges. These are anatomically
designated as the aortic sinuses of Valsalva (Fig. 19.1).
The end of the sinuses, that is the most distal portion is
called the sinotubular junction from where the tubular
portion of the aorta begins.
The aneurysm may be formed in one or more of the
sinuses of Valsalva, when it ruptures to a cardiac chamber,
the clinical condition produced is known as ‘rupture of
sinus of Valsalva aneurysm’ (RSOV).
HISTORY
The first case of sinus of Valsalva aneurysm was described
by James Hope in 1839. This anomaly was described in
right coronary , non-coronary and left coronary respectively
corresponding to the origin of coronary artery from the
sinuses.
INCIDENCE
Sinus of Valsalva aneurysm is a rare congenital cardiac
defect. It comprises approximately 0.1 to 3.5 percent of all
congenital cardiac anomalies. It is five times more prevalent
in Asians because of the higher incidence of supracristal
(subpulmonic) ventricular septal defects. Detection in the
pediatric age group is unusual. Males outnumber females
with ratio 4:1.
EMBRYOLOGY
Sinus of Valsalva aneurysms occur when there is a
congenital defect in the aortic media and an incomplete
fusion of distal bulbar septum (primitive bulbus cordis) with

Figs 19.1A to C: (A) Schematic diagram of the normal aortic root showing the locations of the sinuses of valsalva, (B) Rupture
of right sinus to RA, (C) Rupture of right sinus to RVOT (RCS—right coronary sinus, NCS—noncoronary sinus, LCS—left
coronary sinus, Ao—aorta, LA-left atrium, RA—right atrium, LV—left ventricle, RV—right ventricle)
 Aneurysms of Sinuses of Valsalva 171

truncal ridges resulting in mal-fusion of the aortic media Type III: Aneurysm arises from the posterior portion of
and annulus fibrosus of the aortic valve. There is also a the right sinus.
relative deficiency of elastic fibres in the affected sinus
Type IIIa: When aneurysm ruptures into right atrium.
that under the strain of aortic pressure gradually weakens
and dilates, causing the formation of an aneurysm. Type III b: When aneurysm ruptures into right ventricle.
Congenital sinus of Valsalva aneurysms arise from Type IV: Aneurysm arises from the right portion of the
the right sinus of Valsalva in 80-85 percent of cases, non coronary sinus.
from the non coronary sinus in 5 to 15 percent, and rarely
from the left sinus, as the left coronary cusp embryologically When a VSD is associated, then the types are coded as
is not derived from bulbar septum. I-VSD, II-VSD, III-VSD and IV-VSD.
Type I-VSD: VSD is present immediately below the
AETIOLOGY commissure of the left and right semilunar cusps of the
Primary pulmonary valves. Aneurysm ruptures into the right
ventricular outflow tract forming aortico-right ventricular
Congenital aneurysm of sinus of Valsalva is the most
fistula.
common form of such defect. It is presumed to be caused
by a spontaneous genetic mutation. Although the defect is Type II-VSD: Rare; VSD rests on the crista supraventri-
inherited, no distinct pattern of inheritance has been noted. cularis. It is not in contact with the tricuspid or pulmonary
valves.
Secondary
Type III-VSD: The VSD lies just below the crista supra-
Aneurysm of sinus of Valsalva may be formed due to ventricularis and the corresponding sinus of Valsalva.
atherosclerosis, syphilis, rarely tuberculosis, cystic medial
Type IV-VSD: The VSD rests on the paramembranacea in
necrosis (e.g. Marfan’s syndrome), blunt or penetrating
this type.
chest injury and infective endocarditis. Acquired sinus of
Valsalva aneurysms are more diffuse, involve more of the
sinus, may involve multiple sinuses, often involve the
ascending aorta, therefore project into the pericardium
outside the heart.
Congenital aneurysms have been associated with other
congenital defects including ventricular septal defects (30-
60%), bicuspid aortic valve (15-20%), aortic regurgitation
(40-50%) and persistent left superior vena cava.

CLASSIFICATION
Sakakibara and Konno
Classification (1962) (Fig. 19.2)
This classification is for congenital sinus of Valsalva
aneurysms based on their site of origin and is used as the
standard nomenclature.
Type I: Aneurysm arises from the left part of the right
sinus. Most common in Japan. Fig. 19.2: Schematic diagram showing sites and types of sinus
of Valsalva aneurysms, arrows indicate the sites of rupture
Type II: Aneurysm arises from the central portion of the (RCS—right coronary sinus, NCS—non coronary sinus, LCS—
right sinus. left coronary sinus, RV—right ventricle, RA—right atrium)
 172 Clinical Diagnosis of Congenital Heart Disease
SITES OF RUPTURE OF SINUS OF VALSALVA
Aneurysms are potential threats to life, because of their
inherent tendency to rupture. Congenital aneurysms usually
rupture to cardiac chambers and acquired ones rupture to
cardiac chamber and also to extra cardiac sites like
pericardial cavity, pulmonary trunk and to pleural cavity.
Note: 80 to 85 percent of the aneurysms originate from the
right coronary sinus, which are usually associated with VSD.
Rupture occurs to RV mainly and in some cases to RA.
Aneurysms arising in the non coronary sinus, almost
all rupture into the right atrium. Rarely, congenital sinus of
Valsalva aneurysms burrow into the interventricular septum
and remain unruptured or subsequently rupture into either
the left or right ventricle. Average age of patients of rupture
of sinus Valsalva aneurysm is approximately 30 years with
a range from 11 to 67 years.
PATHOLOGY
Edward and Burchell postulated that the lack of fusion
between the aortic media and the annulus fibrosus of aortic
valve results in a congenital weak area in the aortic wall,
which gradually becomes thinned out and distended as it is
subjected to high ejectile force of LV. In some cases, the
aneurysm may start developing from fetal life.
HEMODYNAMICS
Unruptured Congenital Aortic Sinus Aneurysm
Unruptured aneurysm usually causes no significant
hemodynamic changes. If any circulatory disturbances
occur it is due to associated cardiac lesions. Rarely unrup-
tured aneurysms may cause distortion and obstruction in
the right ventricular outflow tract. This distortion and pro-
lapse of the sinus and aortic valve tissue can lead to pro-
gressive aortic valve insufficiency. Compression by
unruptured aneurysm may cause myocardial ischemia (by
coronary artery compression) and, possibly, heart block
(by compressing the conduction system). Rupture most
commonly occurs into the right ventricle followed by right
atrium.
Ruptured Aortic Aneurysms
Hemodynamics depend upon the amount of shunt, the
cardiac chamber to which the aneurysm ruptures and the
progression of rupture whether it develops acutely or
subacutely over a prolonged period. The chamber receiving
the extra amount of blood through ruptured aneurysm and
the chambers distal to it are volume overloaded.
Note: Features of volume overload on left side is obligatory
irrespective of site of rupture.
The magnitude of the shunt depends on the size of the
fistulus opening as already mentioned. Pulmonary arterial
(PA) flow is increased → increased pulmonary venous
return→increased left atrial volume and flow→LV volume
overload → congestive heart failure (CHF). In cases of
acute rupture, sudden onset of CHF leading to acute
pulmonary edema which may be fatal. If the patient survives
the acute insult the heart gradually compensates which result
in symptomatic improvement, but if it remains uncorrected
eventually heart failure occurs which is progressive and
fatal. In subacute rupture, CHF develops slowly which is
better tolerated and goes unnoticed for some period.
CLINICAL FEATURES
The clinical features of sinus of Valsalva aneurysm present
mainly in three different ways: (i) aneurysm of sinus of
Valsalva can rupture causing heart failure or other
catastrophic events, (ii) when rupture occurs in a subacute
form (slowly develop) and (iii) when aneurysm remains
unruptured, it may compress the adjacent cardiac structures.
Acute rupture usually occurs after an unaccustomed
exercise or trauma to the chest wall. Patient usually
complains of chest pain followed by dyspnea and orthopnea
due to heart failure. Chest pain is commonly due to rupture
itself or may be due to coronary insufficiency. Symptoms
of heart failure gradually improves within some days
because of compensatory mechanisms. Hence, patient
improves symptomatically. After a latent phase of variable
duration again dyspnea, orthopnea and PND reappears
reason being the heart cannot compensate to the continuing
hemodynamic burden. There occurs relentless progression
of CHF leading to death unless the rupture is not corrected.
About one third of patients do not give history of any acute
events. They gradually become symptomatic with dyspnea
and develop CHF due to subacute rupture (small perfo-
ration). Ultimately, it leads to intractable heart failure (terminal
phase) unless treated early.
 Aneurysms of Sinuses of Valsalva
Patients with unruptured aneurysms may be asympto-
matic. It is discovered as a chance finding during routine
examination by 2-D echocardiography for other cardiac
complaints. Angina may occur secondary to coronary
compression which may rarely precipitate myocardial
infarction. Syncope or dizziness may be caused due to
compression of the conduction system by the aneurysm.
It may produce obstruction to RV outflow tract and can
cause tricuspid regurgitation. Rarely unruptured aneurysm
protruding into LV cavity can cause aortic regurgitation.
Signs
Physical signs of a ruptured aneurysm vary, depending on
the location of the shunt and may mimic signs present in a
patient with a sizeable coronary arteriovenous (AV) fistula.
Aortic runoff through the aneurysm into low pressure
chambers cause high volume or water hammer type of
pulse. In acute rupture, the pulse pressure may not be
significantly increased; but after some days the pulse
pressure is increased. Jugular venous pressure (JVP) is
elevated with the onset of congestive heart failure. The V-
wave may be prominent because of TR. In a rare occurrence
of complete heart block, intermittent cannon waves are
seen.
Apex beat is LV type and forceful (volume overload of
LV). A brisk parasternal heave is also palpated due to RV
volume overload. An unruptured aneurysm that results in
obstruction to right ventricular outflow is accompanied by
an isolated right ventricular impulse. A thrill is sometimes
felt in a large rupture which is usually continuous and the
location of the thrill varies with rupture sites. This
continuous thrill is very superficial and well palpable
on slightest touch.
The most characteristic finding of rupture of sinus of
Valsalva aneurysm is a continuous murmur. When the
rupture occur to right atrium, the continuous murmur is
maximal, along the right or left lower sternal border and is
louder in systole. When the rupture enters the body of the
right ventricle, the continuous murmur is maximal at the
mid to lower left sternal border. When rupture is to RV, the
systolic part of murmur may be diminished due to
compression of the fistulous tract by the myocardium. The
diastolic part of murmur is longer and louder because
pressure difference is more in diastole between aorta and
RV. Rupture into the right ventricle near the tricuspid orifice
173
may be associated with a continuous murmur over the right
sternal edge. Rupture into the RV outflow result in a murmur
in the upper left sternal border. The systolic component of
the continuous murmur usually heard better over upper
while the diastolic component heard better over the lower
left sternal border. The character of this continuous
murmur is peculiar in sense that it does not peak
around S 2 as does the murmur of patent ductus
arteriosus.
Rupture into the left ventricle produces an early diastolic
murmur similar to aortic regurgitation. To and fro murmur
can be heard from unruptured aneurysm owing to flow in
and out of the intact aneurysmal pouch.
INVESTIGATIONS
Electrocardiography
ECG shows sinus rhythm, left atrial or biatrial enlargement.
Occasionally AV conduction defect is present. Usually LVH
is present due to volume overload of LV irrespective of the
chamber receiving the perforation (Fig. 19.3). Rupture to
right side produces biventricular hypertrophy. In acute
rupture sinus tachycardia with nonspecific ST/T changes
may be the only features. In a few cases due to compression
of AV nodes II or III degree AV block may be present.
Radiography
Acute rupture is manifested by signs of pulmonary venous
hypertension and pulmonary edema without cardiomegaly.
In subacute rupture there is cardiomegaly. Depending upon
the site of rupture all cardiac chambers may be enlarged
(Fig. 19.4). Pulmonary plethora is an important sign. In
subacute rupture pulmonary venous hypertension
(prominent upper lobe veins) is also present.
Fig. 19.3: ECG of RSOV showing biventricular hypertrophy
with volume overload of LV manifested by deep and narrow Q
waves in leads V5, V6 and upright T waves
 174 Clinical Diagnosis of Congenital Heart Disease

Fig. 19.4: Chest X-ray of rupture of sinus of Valsalva aneurysm

to RA showing cardiomegaly with RA, LA, LV enlargement
and increased pulmonary arterial blood

Imaging with both CT and MRI are used to diagnose

sinus of Valsalva aneurysms, but these diagnostic tools have
not been standardized against echocardiography.

Echocardiography
Echocardiographic criteria for a sinus of Valsalva aneurysm
are (a) the root of the aneurysm be superior to the aortic
annulus (b) the aneurysm be saccular in appearance and
(c) the aortic root is of normal size. Aneurysmal dilatation
of the sinus of Valsalva gives “Windsock” appearance
in more than 50 percent of cases (Fig. 19.5). 2D Echo
alone can delineate the walls of a sinus of Valsalva aneurysm
in 58 percent of cases. Using echo-contrast with 2D imaging,
there is a sensitivity of 75 percent for diagnosis, while the
addition of color Doppler increases the sensitivity to 83
percent.

Doppler and Color Flow Study Shows

a. Continuous turbulence detected by pulsed wave Doppler
just distal to the area of rupture.
b. Continuous turbulence at high velocities detected by
continuous wave Doppler.
c. Color flow imaging show mosaic pattern indicating
turbulence across the ruptured aneurysm in real time
(Fig. 19.5C).
Figs 19.5A to C: 2D echo of rupture of sinus of Valsalva
aneurysm (arrows), (A) Parasternal short axis view showing
“windsock” aneurysm of the right aortic sinus rupturing into
RVOT, (B) Parasternal short axis view showing aneurysm of
right coronary sinus rupturing into RA, (C) Apical 5 chamber
view showing aneurysm of non-coronary sinus rupturing into
LV (A and B Courtesy: Dr BK Mahala, Narayana Hrudayalaya,
Bangalore (C) Dr SK Sahoo, Cuttack)
 Aneurysms of Sinuses of Valsalva 175

All these features can be more clearly seen on trans-

eosophageal echocardiography. Spectral Doppler interro-
gation helps in assessing RV outflow obstruction, VSD,
TR and severity of AR if present.

Cardiac Catheterization and

Angiography
Catheter study shows presence of a step up in oxygen
saturation in the right heart and filling of the right heart
chambers by contrast medium from the ascending aorta.
The evolution in echocardiography has obviated the need
for cardiac catheterization in diagnosing and planning for
the management of rupture of sinus of Valsalva aneurysms.
With the recent advances in interventional cardiology and
case reports of transcatheter closure of ruptured aneurysms
by occlusive devices, again the cardiac catheterization has
become a routine procedure in patients who are planned
for transcatheter closure. This group includes patients of
ruptured aneurysms with no associated VSD and no severe
aortic regurgitation. Prior to transcatheter closure, cardiac
catheterization is done not only to assess hemodynamics,
but also to know the profile of the ruptured aneurysm and
its relationship with the coronary arteries.
Coronary angiography can help to asses the presence
of coronary artery compression. Retrograde aortography
is essential for the diagnosis. The aortogram clearly demons-
trate abnormal dilatation of one or more aortic sinuses and
a fistula leading to either RV or to RA (Fig. 19.6).

Diagnosis
When a young adult who was previously healthy develops
chest pain and dyspnea particularly after a heavy physical
exertion and on examination found to have collapsing pulse,
features of CHF with a superficial continuous murmur
(whose location varies with site of rupture) is clinically
diagnosed as rupture of sinus of Valsalva. In some cases
CHF regresses for a short period after which again becomes
progressive, unless surgery is done. ECG shows biatrial
and biventricular hypertrophy. X-ray shows cardiomegaly
with features of pulmonary venous hypertension.
Echocardiography confirms the diagnosis and some cases
angiocardiography is necessary before surgery.
Note: The classical clinical triad: (1) sudden onset of pulsating
neck vein, (2) collapsing pulse, and (3) continuous murmur
over left parasternal border are helpful for clinical diagnosis.
Figs 19.6A and B: (A) Aortic root angiocardiogram showing
rupture of congenital non-coronary sinus of Valsalva aneurysm
(arrow) into the right atrium (B) Aortic root angiocardiogram
showing rupture of congenital right sinus of Valsalva aneurysm
(arrow) into the right ventricular outflow tract
DIFFERENTIAL DIAGNOSIS
The clinical entities, which produce continuous murmur,
come as differential diagnosis of rupture of aortic sinus
aneurysm.
Patent Ductus Arteriosus
Patients (more so females) with continuous murmur which
peaks around second heart sound with eddies sounds over
first and second left intercostal space, prominent ascending
 176 Clinical Diagnosis of Congenital Heart Disease
aorta on roentgenography and echo reveals turbulent flow
in pulmonary artery with no saccular aneurysm of the aortic
sinus, are diagnosed as PDA. Typical history of RSOV like
chest pain and CHF in a young adult who was previously
healthy, with a new onset continuous murmur are important
clinical features that differentiates it from PDA.
VSD with Aortic Regurgitation
In a child with murmur of VSD which is present since
infancy if a new early diastolic murmur appear after 5 years
of age or more with high volume pulse, clinically VSD with
AR is diagnosed. But it is difficult to differentiate from the
murmur of rupture of sinus Valsalva without background
records. However, echocardiography easily differentiate
these two lesions.
Coronary Arteriovenous Fistula
The murmur of coronary arteriovenous fistula dates from
birth and may remain asymptomatic. But in rupture of aortic
sinus of Valsalva the murmur appears at a later age and the
patient become very symptomatic after rupture. Coronary
AV fistulae from the right coronary artery are usually tubular
rather than saccular and often protrudes in a cephalad
direction and to the right whose course is normal but the
portion proximal to fistula is dilated. In contrast, a ruptured
aneurysm of the sinus of Valsalva protrudes caudally and
to the left. 2D echocardiography with spectral Doppler
imaging clearly delineates these findings and confirms the
diagnosis. Angiocardiography demonstrates dilated and
tortuous coronary artery emptying to cardiac chambers.
But in rupture of sinus Valsalva the coronary arteries are
normal.
COMPLICATIONS
The main complications are:
a. Congestive heart failure which is acute or progressive
nature
b. Aortic valve insufficiency
c. Infective endocarditis
d. Angina and myocardial ischemia
e. Heart block resulting from compression of the conduc-
tion system
f. Aorto-bronchial fistula or aorto pulmonary artery fistula
g. Right ventricular outflow tract obstruction
h. Sudden cardiac death
i. Cardiac tamponade
j. Rarely, a potential source of cerebrovascular embo-
lization.
NATURAL HISTORY AND PROGNOSIS
It is estimated that 40 to 76 percent of sinus of Valsalva
aneurysms rupture; in Asian populations, this typically seen
in the third or fourth decade, while in non Asian population
rupture of sinus Valsalva aneurysms occur across all the
age spectrum, including infancy. Data on the natural history
of unruptured aneurysm is scarce as unruptured aneurysms
are often clinically silent. In the past, these aneurysms have
been repaired prophylactically prior to rupture.
Prognosis is poor with progressive aneurysmal dilatation
or rupture, unless early surgical repair is performed. Actuarial
survival rate for patients with congenital sinus of Valsalva
aneurysms is 95 percent at 20 years, since most of these
aneurysms do not rupture prior to age 20 years. Unruptured
aneurysms have been observed in serial monitoring up to
several years after initial diagnosis. Most of these unruptured
aneurysms have been found to progress and ultimately
rupture and the patients with ruptured aneurysms die of
heart failure or endocarditis within 1 year after onset of
symptoms.
GUIDELINES FOR MANAGEMENT
The medical care is directed towards hemodynamic
stabilization (management of CHF), prevention or treatment
of endocarditis and management of arrhythmias and
myocardial ischemia.
But surgery remains the mainstay of treatment of
aneurysm of sinus Valsalva since 1956. Now a days due to
improved and advanced surgical technique the operative
mortality rate is less than 2 percent. Surgical repair is carried
out through the aorta or the cardiac chamber affected by
the aneurysm or a combination of both. The fistulous tract
from RA is closed and associated VSD is repaired. Aorta is
reconstructed with valve annulus either by direct
anastomosis or interposed graft. Recently, percutaneous
closure of ruptured aneurysm of sinus of Valsalva has
become possible using Amplatzer duct occluder and
 Aneurysms of Sinuses of Valsalva
Amplatzer septal occluder. Thus the need for both sterno-
tomy and cardiopulmonary bypass can be avoided. Patients
for transcatheter closure should not have VSD or severe
aortic regurgitation.
SALIENT FEATURES
1. The typical history of RSOV is that a healthy young
adult suddenly becomes symptomatic with chest
discomfort, dyspnea and palpitation following
unaccustomed physical exertion.
2. A period of symptomatic improvement occurs in-
between initial symptoms and subsequent symptoms
of progressive heart failure.
3. High volume pulse, presence of CHF with a typical
continuous murmur over left sternal border (site of
177
murmur depends on to which cardiac chamber, rupture
occurs) is suggestive of RSOV.
4. This continuous murmur is superficial and does not
peak around S2 unlike murmur of PDA. The diastolic
component varies in length and intensity.
5. ECG shows biventricular hypertrophy, conduction
defect and X-ray shows cardiomegaly and increased
pulmonary vascularity with evidence of pulmonary
venous hypertension.
6. 2D echo with Doppler confirms the diagnosis by
delineating the wall of the sinus Valsalva aneurysm
and color Doppler shows the flow pattern with
continuous turbulence.
7. Early surgery is advised in most of the patients besides
trans-catheter closure by Amplatzer device in selected
cases.
20 Congenital Coronary Artery Anomalies
INTRODUCTION
The term coronary is derived from the Latin literature
meaning “crown”. The name is very befitting in sense coro-
nary arteries not only lie over the epicardial surface like a
crown but also carries importance amongst all cardiac
lesions (congenital or acquired). Abnormalities of coronary
artery (or arteries) even if minor may be life threatening
during surgical repair of congenital heart diseases if not
detected earlier.
This chapter deals with common anomalies of coronary
arteries, which are seen in clinical practice; although
anomalies of coronary artery itself are uncommon.
NORMAL CORONARY ARTERIES
It will be helpful to describe the embryology, normal ana-
tomy and physiology of coronary arteries in brief before
going for congenital coronary artery anomalies.
EMBRYOLOGY
The vascular system (veins, arteries and capillaries)
develops from primitive cardiac sinusoids during the process
of myocardial compaction. The human heart starts beating
as early as 22nd days after conception. The very primitive
blood islands present over epicardial surface form small
vascular channels without any connection with ventricular
cavity. Gradually a vascular channel is established between
the small epicardial capillary (forming vascular channel)
with the outgrowth or buds of aortic sinus. This vascular
channel is almost completed by 7th week of gestation and
blood starts flowing from aorta to myocardial surface
through these vascular channels known as coronary
arteries. Coronary sinus is formed from the distal part of
the sinus venosus in the embryonic life. Ultimately the
venous blood of the myocardium drains through coronary
sinus to right atrium.
BR Mishra
ANATOMY
Coronary arteries take origin from right and left aortic sinus
of Valsalva as right coronary artery (RCA) and left main
coronary artery (LMCA) respectively. The third sinus that
is posterior sinus is known as non-coronary sinus of
Valsalva which does not give origin to any coronary artery.
Left Coronary Artery
The left main coronary artery (LMCA) runs for a few
millimeters before it divides into two (Fig. 20.1A). The
first one is the left anterior descending artery (LAD), which
is almost the direct continuation of left coronary artery. It
runs in the anterior interventricular groove. During its
course through the interventricular groove it gives rise to
diagonal arteries, which supply the left ventricular
myocardium and septal perforator arteries which run inside
the interventricular septum and end by anastomosing with
branches of posterior descending artery. Septal perforator
arteries supply blood to interventricular septum. The second
one from LMCA is left circumflex artery (LCx). It runs in
the atrioventricular groove, goes left laterally and then
posteriorly giving rise to branches called obtuse marginal
arteries. It varies in size and length depending on origin of
posterior descending coronary artery (PD). When PD
descends as a branch of circumflex in the posterior
interventricular groove it is known as left dominant coronary
artery system (occurs in about 10% of cases). In the
majority (90%) the posterior descending takes origin from
right coronary artery. A normal coronary angiogram is
shown in Figure 20.2A and B in two conventional views.
Right Coronary Artery
It arises from right aortic sinus, courses behind pulmonary
artery in the right atrioventricular groove (Fig. 20.1B). First
it gives rise to right conal branch, then artery to sinus node
 Congenital Coronary Artery Anomalies 179

Figs 20.1A and B: Schematic diagram showing (A) normal left coronary artery, (B) normal right coronary artery. With the
branching patterns (Ao—aorta, LM—left main coronary artery, LCx—left circumflex coronary artery, LAD—left anterior descending
artery)

Figs 20.2A and B: Normal left coronary angiogram, (A) RAO view, (B) LAO view
(LM—left main coronary artery, LAD—left anterior descending artery, LCx—left circumflex artery)

and atrial branches, subsequently give rise to acute marginal
branches which supply blood to right ventricular
myocardium and continues as posterior descending artery.
In 90 percent of cases right dominant system persists as
the posterior descending artery courses through posterior
interventricular groove. Before it continues as posterior
descending artery it gives a branch to AV node and during
its course it gives septal branches.
RCA gives a branch to sinus node in 90 percent of
cases (another 10% from LCx). The Kugel’s artery is a
branch of left circumflex usually courses through
interventricular septum and anastomose with AV nodal
artery. The left conus artery which is the first branch of
left anterior descending anastomose with conal branch of
right coronary artery forming the “circle of Vieussens”. A
normal right coronary angiogram is shown is Figure 20.3.
 180 Clinical Diagnosis of Congenital Heart Disease
Fig. 20.3: Normal right coronary angiogram (RCA—right
coronary artery, PD—posterior descending artery)
PHYSIOLOGY
The whole purpose of the coronary arterial system is to
supply oxygenated blood to completely aerobic myo-
cardium. The left coronary arterial flow occurs in diastole
to LV and flow in RCA occurs in both systole and diastole
to RV. The major determinants of coronary flow are systolic
wall tension, contractility and heart rate. Flow depends on
coronary perfusion pressure (pressure difference between
the aorta in diastole and coronary sinus/RA) and coronary
vascular resistance. The coronary flow reserve is the
difference between resting and maximal coronary flow,
when it is decreased myocardial ischemia precipitates.
CLASSIFICATION
1. Major coronary anomalies: It includes congenital
coronary arterial fistula and aberrant origin of one or
both coronary arteries from pulmonary arteries.
2. Minor coronary anomalies: Coronary arteries arise from
aortic sinus but their number, origin, course and
termination may vary.
3. Coronary anomalies commonly associated with specific
congenital heart diseases such as pulmonary atresia with
intact ventricular septum, hypoplastic left heart syndrome
(HLHS), tetralogy of Fallot (TOF), transposition of great
arteries (TGA), single ventricle and truncus arteriosus.
Major coronary arterial anomalies are discussed in
separate chapters. Minor coronary arterial anomalies as such
are harmless but needs to be delineated before all types of
surgery, as inadvertent closure of any branch may be
catastrophic.
Note: It is a dictum to delineate the origin, course and its
termination of coronary arteries (normal and abnormal) in all
congenital heart diseases planned for surgery. 2D
echocardiograph with color Doppler helps to identify the origin,
proximal part of coronary arteries and at times the site of
abnormal termination. Cardiac catheterization and
angiography is the gold standard to clearly identify coronary
arterial anatomy, that is very important for the surgeon in
planning for the surgery.
CORONARY ANOMALIES ASSOCIATED WITH
SPECIFIC CONGENITAL HEART DISEASES
Pulmonary Atresia with Intact
Interventricular Septum
Communication between right ventricle and coronary
arteries occurs via myocardial sinusoids. Bidirectional flow
is observed in angiogram. In diastole blood flows to RV
from coronary artery through the sinusoids and a reverse
flow is seen in systole.
HLHS
In this anomaly coronary artery fistula (left coronary to
LV cavity) is very often present. The coronary circulation
is said to be ‘right ventricular dependent coronary
circulation’ as the hypoplastic LV is supplied by branches
from right coronary artery.
TOF
Various types of coronary artery anomalies are present in
about 2-10 percent of cases. Right coronary artery is dilated
and supplies RV. Conus artery may take origin directly from
right aortic sinus of Valsalva. Aberrant origin of left anterior
descending from right coronary and single coronary artery
are very often present. Small communications may exist
between coronary arteries and bronchial arteries and also
between coronary artery and right-sided cardiac chambers.
TGA
Here the origin and course of coronary arteries are often
variable. The commonest pattern is the coronary arteries
arise from sinuses adjacent to or facing the pulmonary valve.
 Congenital Coronary Artery Anomalies
Sinus away from the pulmonary valve is the non-coronary
sinus. In some cases left circumflex arises from right
coronary artery. Sometimes single coronary artery and
anterior course of left coronary artery poses problem for
surgical correction.
cTGA
In congenitally corrected transposition of great arteries the
coronaries are inverted, left coronary arises from right sinus
to supply the LV and right coronary from left sinus to supply
the RV. The location of left anterior descending artery in
angiography identifies the interventricular septum.
Single Ventricle
The coronary arterial course varies according to the position
of the rudimentary ventricle. When rudimentary RV is
inverted, coronary arteries resemble corrected transposition
pattern. Major branches of each coronary artery outline
the rudimentary chamber.
Truncus Arteriosus
The origin of coronary artery corresponds to the number
of truncal cusps. Right coronary artery arises from right
anterior sinus and left coronary from a left posterior sinus.
When there are four or more cusps the origins are variable.
In this setting frequently high origin of coronary arteries
are seen.
The rarer coronary artery anomalies are:
1. Left coronary artery arising from pulmonary artery.
2. Anterior descending artery taking origin from pulmonary
artery.
3. Both coronary arteries arising from pulmonary artery.
4. Single coronary artery, left coronary artery arising from
right coronary artery or right coronary arising from left
coronary artery.
5. Congenital coronary arterial aneurysm.
6. Congenital coronary artery obstruction.
External compression: Due to aberrant course between
RVOT and aorta, may cause angina or sudden death.
Intrinsic obstruction: Atresia of the ostium, occlusive
fibroelastosis, arterio-hepatic dysplasia.
7. Coronary arterial dilatation due to stenosis distal to its
origin like supravalvular AS and coarctation of aorta.
181
The first three are extremely rare conditions. Usually
the neonates or the infants die of congestive heart failure.
If at all the patients survive, develop repeated syncopal
attacks, chest pain and may develop sudden death during
physical exertion.
When both coronary arteries arise from a common
orifice it is known as single coronary artery. It takes origin
mainly from right aortic sinus of Valsalva and thereafter
follows different course. Patients belonging to this group
are usually asymptomatic and lead almost normal life.
Diagnosis is made when coronary angiography is done for
some other purpose. It is mainly associated with TOF, TGA
and coronary-cameral fistula.
Infantile Arterial Calcification
Arteriopathies in infancy involve coronary arteries. The
infant develops severe congestive heart failure and die within
six months of life. In this process the other arteries like
retinal, carotid and renal arteries are also involved. The infant
who survives develops anginal pain, arrhythmias and
congestive heart failure. ECG shows evidence of myocardial
ischemia or infarction. Radiological features show
calcification of coronary arteries.
Kawasaki Disease
It is a systemic inflammatory condition of unknown etio-
logy. It is called mucocutaneous lymph node syndrome
because of exanthema involving skin, mucus membrane
and associated cervical lymphadenopathy. The infants suffer
from myocarditis or pericarditis. Subsequently coronary
arterial aneurysm formation occurs. Echocardiography and
angiocardiography delineates the exact size and extents of
aneurysm formation.
ANOMALIES OF CORONARY SINUS
Coronary sinus (CS) is the major coronary vein present in
AV groove through which the coronary venous drainage
occurs to RA. The anomalies are:
Enlargement
• Systemic veins (LSVC/IVC/hepatic vein) drainage to
coronary sinus
 182 Clinical Diagnosis of Congenital Heart Disease

• Coronary artery to coronary sinus fistula

• Conditions increasing RA pressure.
Absence
• Coronary sinus ASD
• Unroofed coronary sinus.
Hypoplastic
Some cardiac veins fails to drain to CS instead directly
drain to RA through thebesian veins.
Atresia or Ostial Stenosis
Obstruction at the site of entry to RA causes coronary
sinus blood to pass retrogradely through persistent LSVC
to innominate vein and finally to RA.
SALIENT FEATURES
1. Coronary artery anomalies carry all importance
amongst cardiac lesions because any significant
abnormal course may be life threatening particularly
during or after surgical repair.
2. Coronary artery anomalies mainly are classified as
major, minor and anomalies associated with specific
cardiac lesions.
3. It is a dictum to delineate the origin, course and
termination of coronary arteries, normal or abnormal in
all congenital heart disease before planning for surgery.
4. Echocardiography demonstrates mainly the proximal
coronary arterial abnormalities. Cardiac catheterization
and coronary angiography are the gold standard for
diagnosis of these anomalies.

Congenital Coronary Arterial Fistula

CG Bahuleyan

INTRODUCTION
Direct communication between a coronary artery and a
cardiac chamber or pulmonary artery without inter position
of capillary system is known as congenital coronary arterial
fistula. Most commonly the coronary artery directly
communicates to a right sided cardiac chamber, vena cava
or pulmonary artery and hence the name coronary
arteriovenous fistula is often used. However rarely it may
communicate with a left sided chamber, then the term
coronary arterio-systemic fistula is more appropriate. When
the fistula joins a cardiac chamber directly it is called
coronary-cameral fistula. Most commonly the anomaly is
known as congenital coronary arteriovenous fistula (CAVF).
Fig. 20.4: Schematic diagram of coronary arteriovenous fistula,
HISTORY arrow shows a dilated tortuous proximal right coronary artery
communicating to right atrium (RA) through abnormal fistulous
It was first described by Krause in 1865 and Trevor in channel, coronary artery distal to fistulous connection is normal
1912 gave a detailed description of coronary-cameral fistula, (Ao—aorta, LA—left atrium)
 Congenital Coronary Arterial Fistula
in which the abnormal fistulous connection was between a
coronary artery and a cardiac chamber.
INCIDENCE
It is one of the most common congenital anomalies of the
coronary arteries. This entity accounts for 0.2 to 0.4 percent
of congenital cardiac anomalies and roughly half of
congenital anomalies of the coronary arteries. The sex
incidence is equal.
EMBRYOLOGY
The embryologic basis for CAVF is generally postulated to
be persistence of portions of the embryonic coronary
sinusoids that connect the primitive coronary arteries to
the cardiac chambers. But the embryogenesis is not uniform.
This varies according the draining site of the fistula. Those
entering the right ventricle (most common variety) have
been related to persistence of primitive intramyocardial
sinusoids. Coronary arterial to left ventricular fistula results
from direct flow through well-developed intramyocardial
thebesian venous channels. A coronary artery to pulmonary
arterial fistula may result from persistence of communi-
cation between primitive coronary arteries and mediastinal
plexus of vessels. When coronary arterial branches join
with myocardial veins, the primitive sinusoidal space give
rise to fistulous communication.
ANATOMICAL ABNORMALITIES
Approximately 60 percent of the fistulas originate from the
right coronary artery and 40 percent originate from the left
coronary artery and a minority (5%) can arise from both
coronaries. In about 90 percent of cases it terminates in
the right side of the heart. Of these, the majority enters the
right ventricle (40 %). Next common is right atrium (25%)
and then pulmonary artery (15%). It can also connect to
the coronary sinus or superior vena cava (rare). Only
5 percent of the fistulas drain into left atrium and 3 percent
into the left ventricle.
The coronary artery that gives rise to the fistula is
characteristically dilated, elongated and tortuous proximal
to the fistulous connection. It commonly contains saccular
aneurysms. The site of termination of the fistula may vary.
It may form a single entry site, multiple entry sites, or form
a plexiform communication between the coronary artery
and a cardiac chamber, or a side-to-side communication
between the coronary artery and a cardiac chamber.
183
HEMODYNAMIC ABNORMALITY
The physiological disturbances caused by CAVF depend
on three factors: The volume of blood flow through the
fistula, the draining chamber or vessel, and the myocardial
ischemia that occur due to “coronary steal”. Blood is “stolen”
from the coronary arterial bed distal to the insertion of the
fistula because the fistula is connected to a low pressure
site resulting in runoff of coronary arterial blood into the
recipient site. Therefore less blood passes to distal coronary
artery, resulting in myocardial ischemia. The larger the
volume of blood flowing through the fistula and the longer
the existence of the fistula, the greater the hemodynamic
disturbance. Normally about 10 percent of aortic blood
flows into the coronary arteries, but in the presence of a
coronary arterial fistula much larger volume enter the
coronary bed.
Note: CAVF that terminate in the right atrium has the physiology
of a pre-tricuspid left-to-right shunt, whereas those that
terminate in the right ventricle or pulmonary artery have the
physiology of a post tricuspid left-to-right shunt. Those that
terminate in the left atrium have a physiology similar to mitral
regurgitation, and those that terminate in the left ventricle have
a physiology similar to aortic regurgitation.
CLINICAL FEATURES
The vast majority of patients under 20 years of age are
asymptomatic, whereas more than half of patients over 20
are symptomatic. Symptoms include exertional dyspnea,
fatigue, anginal pain and palpitation. Physical appearance is
normal. Growth and development is not affected because
of small shunt (relatively small amount of blood from aorta
enter the recipient chamber). All these patients are acyanotic.
Arterial pulse is normal unless the fistula is large when it
gives rise to high volume and collapsing pulse, because of
aortic run off. Precordial examination is generally
unremarkable except in case of large fistulas when the left
ventricular impulse is hyperdynamic and well felt over apical
area. A right ventricular impulse may be felt when the fistula
drains to RA or RV.
On auscultation first heart sound is normal, second heart
sound is normally split even when the right atrium receives
the fistula (because of small shunt). Rarely if the right-
sided chambers receive large amount of blood, the second
sound is widely split but not fixed (respiratory variation
 184 Clinical Diagnosis of Congenital Heart Disease
present). A continuous murmur is the hallmark of coronary
arterial fistula. The location of this murmur depends upon
the chamber or vessel that receives the fistulous communi-
cation, not on the coronary artery origin. When the fistula
connects to right atrium, the continuous superficial murmur
is maximal at either the upper or lower right sternal border
and the systolic component is louder. When communication
is to right ventricular cavity, the murmur is maximal along
the mid to lower left sternal border or over the sub-xiphoid
area and the continuous murmur is loud either in systole or
in diastole and intensity of murmur varies from cycle to
cycle. In communication to right ventricular outflow tract,
the murmur is maximal along the upper to mid left sternal
border. When pulmonary trunk receives the fistula the
continuous murmur is most prominent at the upper left
sternal border.
Note: The characteristic of this continuous murmur is that it
peaks either in systole or in diastole, not around second heart
sound as in the case of patent ductus arteriosus.
A coronary artery to left ventricular fistula can result in
a diastolic murmur alone or it may be preceded by a mid
systolic murmur due to augmented flow across the aortic
valve. The intensity of murmur decreases by Valsalva
maneuver.
INVESTIGATIONS
Electrocardiography
It is usually normal. In older patients, nonspecific changes
may be seen. Findings depend on the size and location of
the shunt and the presence or absence of coronary steal.
In case of significant shunts, chamber enlargement occur
typical of the physiology dictated by the site of entry of the
fistula. In patients with coronary steal, ECG changes of
ischemia may be seen, but myocardial infarction is not a
feature of uncomplicated coronary arterial fistula.
Radiography
Like the electrocardiogram, here also the radiological
findings depend on the site of communication and its
magnitude. As a rule the vascular markings and pulmonary
trunk are normal or only moderately increased, and the
chambers enlargement vary depending on the site of
drainage of fistula.
Echocardiography
Two-dimensional echocardiogram in basal short axis view
can accurately demonstrate the dilated proximal portion of
coronary artery that feeds the fistula. Color Doppler helps
in identifying the site of entry of fistula (Fig. 20.5).
Demonstration of entire course of arteriovenous fistula from
proximal coronary artery to the drainage site is difficult. A
coronary arterial fistula that drains into the pulmonary artery
can be distinguished from a patent ductus arteriosus and
from anomalous origin of the left coronary artery from the
pulmonary trunk. When a CAVF drains into the pulmonary
trunk, it does so adjacent to the pulmonary valve but ductal
flow enters the pulmonary trunk at the level of the left
pulmonary artery. The coronary arterial fistula draining to
LV via thebesian venous channel is only detected by
echocardiography or angiocardiography as clinically, it is
silent (no murmur audible).
Cardiac Catheterization and Angiocardiography
At cardiac catheterization, a step-up in oxygen saturation
may be noted in the right heart chamber in which the fistula
terminates, provided flow through the fistula is not small.
No saturation differences are there if the fistula is draining
into the left heart. Flow through the fistula varies from 0.6
to 8.7 L/minute/m2 of BSA.
The fistula often identified by aortic root angiography,
but small fistulas may be missed. Such small fistulas are
identified by selective coronary arteriography (Fig. 20.6).
Magnetic Resonance Imaging (MRI)
Magnetic resonance imaging has been used to identify
coronary arterial fistulas.
DIAGNOSIS
Asymptomatic infant or child with normal cardiac size,
normal heart sounds and a continuous superficial murmur,
which is louder either in systole or in diastole may arose
the suspicion of CAVF. ECG and X-ray are usually not
helpful. 2D echocardiography is suggestive of the diagnosis
by demonstrating dilated proximal coronary artery and color
Doppler study is diagnostic if the entry site is demonstrated.
Selective coronary arteriography confirms the diagnosis.
 Congenital Coronary Arterial Fistula 185

Figs 20.5A to C: Echocardiogram of coronary arteriovenous

fistula, (A) left panel shows aorta (Ao) and pulmonary artery
(PA) in short axis, color Doppler interrogation on right panel
reveals a mosaic jet (Arrow) from proximal coronary artery
entering pulmonary artery. (B) Short axis view in another
patient showing communication (arrows) between proximal
left coronary artery (LCA) and right atrium (RA). (C) Color
Doppler interrogation shows flow from LCA to RA in the same Figs 20.6A to C: Coronary angiography of coronary arterio-
patient (A—Courtesy: Dr P Pati, CMC, Vellore, B and C— venous fistula (A) to left atrium, (B) to right ventricle, (C) to
Dr BK Mahala, Narayana Hrudayalaya, Bangalore) pulmonary artery
 186 Clinical Diagnosis of Congenital Heart Disease
DIFFERENTIAL DIAGNOSIS
Clinical conditions having continuous or to and fro murmur
over left upper sternal border in an asymptomatic acyanotic
child raise the suspicion of the following heart diseases.
1. Patent ductus arteriosus (PDA).
2. Ventricular septal defect with aortic regurgitation (VSD
with AR).
3. Anomalous origin of left coronary artery from
pulmonary artery (ALCAPA).
Although they have their own typical findings like PDA
having characteristics continuous murmur and eddies
sounds, VSD with AR having to and fro murmur (not
continuous), ALCAPA having typical history, MR murmur
and typical ECG findings, the final diagnosis can only be
established in these above conditions by 2D echocardio-
graphy with color Doppler imaging and sometime by
angiocardiography.
COMPLICATIONS
The complications of coronary arterial fistula are: Conges-
tive heart failure, rupture of the fistula, infective endocarditis,
embolism and myocardial infarction.
NATURAL HISTORY AND PROGNOSIS
Survival into adult life is expected, although the life span is
not normal. The majority of patients are asymptomatic when
first seen and many a time the diagnosis is made accidentally.
In exceptional cases cardiac failure is overt in infancy.
Symptoms and especially complications appreciably
increase with age. Complications related to fistula are present
in 11 percent of patients under the age of 20 and in
35 percent of patients above that age. Spontaneous closures
of coronary arteriovenous fistula have been rarely reported.
In adults it may close due to development of atherosclerotic
occlusion proximal to the site of fistula.
GUIDELINES FOR MANAGEMENT
There is no specific medical management. Once coronary
arteriovenous fistula is diagnosed the patient is advised for
closure of fistula, even if he is asymptomatic (to prevent
complication like infective endocarditis and fistula rupture).
Recently percutaneous transcatheter embolization
(Gianturco steel coils) is advocated as safe and reliable
procedure to close the fistula as an alternative to surgery.
The fistulous point is closed nearest to the entry into the
cardiac chamber to avoid compromise to the coronary
circulation.
SALIENT FEATURES
1. When there is a direct communication (without
interposition of capillary system) between coronary
artery and a cardiac chamber or with pulmonary artery
the clinical condition is known as congenital coronary
arteriovenous fistula.
2. When the coronary artery directly opens into a cardiac
chamber it is known as coronary cameral fistula.
3. This coronary fistula takes origin from right coronary
artery in 60 percent and from left coronary in 40 percent
of cases. In 90 percent of cases, these abnormal
coronaries terminate in the right-sided chambers.
4. Majority of cases are asymptomatic. A superficial
continuous murmur is audible whose site and nature
varies according to the chamber it terminates.
5. 2D echo with Doppler imaging identify the dilated and
tortuous proximal coronary artery with the site of entry
of the fistula.
6. Cardiac catheterization and angiocardiography is
mandatory because it delineates clearly the site of origin
to the site of termination.
7. Closure of the fistula is the definitive treatment either
by percutaneous transcatheter embolization or by
surgery.
 Anomalous Left Main Coronary Artery from the Pulmonary Artery
Anomalous Left Main Coronary Artery
from the Pulmonary Artery
SYNONYM
Bland-White-Garland syndrome.
DEFINITION
When the left coronary artery originates from the pulmonary
artery and then run a normal course the clinical condition is
known as anomalous left coronary artery from the
pulmonary artery (ALCAPA). It behaves as a distinct
important entity amongst all types of anomalous origin of
coronary arteries.
HISTORY
The pulmonary arterial origin of coronary arteries was first
described by Brooks in 1886. It was further described in
detail by Abbott in 1908. The first clinical description of
this anomaly was given by Bland, White and Garland in
1933.
INCIDENCE
This anomaly is a rare one. It occurs approximately one
per 300,000 live births and represents 0.5 percent of cases
of congenital heart disease. It is generally seen as an isolated
anomaly, can also be associated with PDA, VSD, TOF and
coarctation of aorta. Male to female ratio is 3 to 1.
EMBRYOLOGY
There are several theories or postulations as regards the
development of left coronary artery arising from pulmonary
trunk. Briefly summarizing this anomaly may result from
either abnormal septation of the cono-truncus into aorta
and pulmonary artery (Abrikossoff’s theory), or from
persistence of the pulmonary buds together with involution
of the aortic buds, that will eventually form the coronary
arteries (Hackensellner’s theory).
ANATOMICAL ABNORMALITIES
The anomalous left coronary artery arises from the main
pulmonary artery and then runs a normal course but is
187
Naveen Garg
thinner than a normal left coronary artery. The right coro-
nary artery arises normally from the aorta and runs normal
course but it becomes dilated and gives number of collateral
branches particularly in older children and adults. In infants
commonly the left atrium and left ventricle are dilated and
endocardial fibroelastosis present. The blood supply to the
anterolateral part of the left ventricle is diminished as it is
supplied by this anomalous left coronary artery, so the
anterolateral part of LV remains vulnerable for ischemia
and infarction. Subsequently it becomes thinned out due to
scar formation.
HEMODYNAMICS
In fetal life no abnormal hemodynamic changes occur as
left ventricular myocardium gets adequate blood supply
from anomalous left coronary artery arising from main
pulmonary artery. After birth hemodynamics mainly
depends on the left coronary arterial blood flow. In the
neonatal period (initial stage) the left ventricular
myocardium gets adequate blood from pulmonary artery
causing no ischemia. But as the neonatal pulmonary arterial
pressure falls (second stage) flow through the anomalous
left coronary artery decreases. Left ventricular perfusion
which depends upon collaterals from the right coronary
artery (RCA), are not adequate, therefore the infant develops
myocardial ischemia or infarction. But later on (third stage)
adequate collaterals develop. These patients usually survive
to adulthood. As time passes (stage four) in these children
left coronary artery behaves as a conduit between RCA
and PA (Fig. 20.7) (systolic pressure in RCA is more than
PA) so coronary steal occurs. Left ventricle is not perfused
with adequate oxygenated blood which leads to myocardial
infarction or rarely sudden death. A left to right shunt is
established (coronary pulmonary shunt). LV contractility
is decreased, therefore, LV end-diastolic and LA pressure
is increased which gives rise to passive pulmonary venous
congestion. Papillary muscle dysfunction due to ischemia
gives rise to mitral regurgitation which produces volume
 188 Clinical Diagnosis of Congenital Heart Disease
Fig. 20.7: Schematic diagram showing origin of left coronary
artery (LCA) from pulmonary artery (PA). Arrows showing
direction of blood flow from right coronary artery (RCA) through
anastomotic channels to left coronary artery (LCA) with
retrograde flow to PA, RCA is dilated. Ao-aorta
overload of the LV. In some cases, presence of VSD is
beneficial, by increasing PA pressure it prevents ischemia.
CLINICAL FEATURES
Symptoms
The presenting features are broadly divided into three
categories.
1. The infant suffering from ALCAPA is born healthy
and remains asymptomatic for about 6 to 8 weeks,
subsequently become critically ill. They present with
dyspnea, tachypnea and chest pain (restlessness and
cry) during feeding or nursing care or during
defecation. These infants develop congestive heart
failure, and then pass on to resistant CHF and ultimately
85 percent die within first year of life.
2. A few infants (about 10%) improve dramatically
without any special effort and lead almost asympto-
matic life only with restricted physical activity till late
childhood. The reason is not very clear, may be due
to adequate collaterals. Later they may present with
angina or with mitral regurgitation. These patients are
vulnerable for sudden death.
3. Infants belonging to this category (about 5%) are
fortunate because they are asymptomatic from very
beginning and grow normally and attain adulthood. The
possible cause is again early development of collaterals
giving rise to adequate blood supply to left ventricular
myocardium. The diagnosis is made because of a MR
murmur or a continuous murmur or sometime due to
history of syncopal attacks or chest pain following
exertion. They are also prone for sudden cardiac death.
When ALCAPA is associated with other congenital heart
lesions, it may remain silent till fully investigated. In these
cases large VSD plays an important protective role by
supplying adequate oxygenated blood to LV myocardium,
so closure of VSD (without ALCAPA surgery) can be
catastrophic.
Signs
On examination tachycardia, raised JVP (very difficult to
observe the wave patterns in sick infants), Cardiomegaly
with LV apex and hepatomegaly indicate CHF which are
common signs in infants beyond five weeks of age. On
auscultation first heart sound is normal or diminished (due
to MR), second heart sound is normally or closely split
with P2 being loud (due to pulmonary hypertension) and
third heart sound (S3 gallop) is often present (due to LV
failure or MR). In majority of infants, initially no murmur
but subsequently a short ejection systolic murmur or
pansystolic murmur (due to MR) over apex conducted to
axilla is audible. Those who survive and attend adolescence
or adulthood may develop continuous murmur audible over
upper left sternal border due to coronary arteriovenous
fistula (retrograde blood flow through inter-coronary
communication). This continuous murmur does not
peak around second heart sound, moreover diastolic
part is louder unlike PDA. When pulmonary hypertension
becomes prominent a short systolic murmur, instead of
continuous murmur is audible with very loud P2.
INVESTIGATIONS
Electrocardiography
The ECG is very typical and diagnostic of ALCAPA. When,
in a sick infant or in a toddler; the ECG shows
myocardial ischaemia or infarction pattern (patho-
 Anomalous Left Main Coronary Artery from the Pulmonary Artery
Fig. 20.8: Electrocardiogram of an infant with ALCAPA showing
pathological ‘Q’ waves in lead I, aVL, V3 to V5 indicating
infarction in the territory of LAD
logical ‘Q’ and ST/T changes) one must suspect
ALCAPA (Fig. 20.8). In some infants ECG may be normal
(because of early adequate myocardial perfusion), but when
the infant attains childhood or adulthood, the ECG changes
of ischemia again appear. Appearance of abnormal q
(increased duration and amplitude) and ST segment deviation
(more than 2 mm) and T-wave inversion suggest
myocardial infarction. In most of the adult cases LVH is a
usual feature.
Radiography
The radiographic features of ALCAPA are those of
congestive heart failure (Fig. 20.9). There is cardiomegaly
with enlargement of the left atrium and left ventricle. Features
of pulmonary venous hypertension or pulmonary edema
may be present. These findings are neither sensitive nor
specific for ALCAPA.
Echocardiography
Echocardiography with Doppler color-flow mapping has
replaced cardiac catheterization. Left ventricular
hypertrophy, diffuse or regional hypokinesia and decreased
LV function with left atrial dilation are important
echocardiographic findings. In some cases bright
endocardial echo are observed indicating presence of
endocardial fibroelastosis. These findings are also seen in
infants suffering from dilated cardiomyopathy or
myocarditis. The main diagnostic features for ALCAPA
are to delineate the origin of coronary arteries (right and
left) and particularly to show the flow pattern by color
189
Fig. 20.9: X-ray chest of ALCAPA showing cardiomegaly, LA
enlargement, pulmonary venous hypertension
Doppler imaging. Short axis view demonstrates the origin
of both coronary arteries. In ALCAPA left coronary arterial
origin is absent from aorta, but it can be traced from the
pulmonary artery (Fig. 20.10A). Right coronary artery
shows normal origin. Demonstration of retrograde flow
from left coronary artery towards pulmonary artery is
diagnostic of ALCAPA (Fig. 20.10B).
Nuclear Myocardial Perfusion Imaging
Thallium-201 myocardial perfusion imaging is quite
sensitive, it shows reduced tracer uptake in the anterolateral
region, but not specific because it is seen in cardio-
myopathies. Nowadays gallium scanning and contrast
echocardiography is helpful giving additional information
about coronary artery perfusion.
Cardiac Catheterization and Angiocardiography
Cardiac catheterization with angiography remains the gold
standard for the diagnosis of the ALCAPA. These
procedures are mandatory before surgery in this
anomaly even if 2D echo with Doppler give full information.
RV, PA, pulmonary wedge pressures and LV endiastolic
pressures are increased. Clear delineation of coronary
 190 Clinical Diagnosis of Congenital Heart Disease
Figs 20.10A and B: Echocardiogram of ALCAPA, (A) Short
axis showing origin (Arrow) of left coronary artery (LCA) from
pulmonary artery (PA). (B) Color flow showing retrograde flow
from left coronary artery to pulmonary artery.
arteries (left, right and collaterals) is necessary before
surgical procedure. Aortic root angio shows origin of RCA
only (not the origin of left coronary artery) which is dilated.
Blood flow from RCA through collaterals go to left coronary
artery then to pulmonary trunk which is well visualized
(Fig. 20.11). Sometimes pulmonary trunk angio and selective
angiography of RCA are also performed.
DIAGNOSIS
Neonates doing well if become symptomatic during their
early infancy in form of congestive heart failure with ECG
Fig. 20.11: Right coronary angiography of ALCAPA showing
dilated right coronary artery, retrograde flow is seen to left
coronary artery through collaterals which is entering
pulmonary artery (Courtesy: Dr SR Anil, Apollo Hospital,
Hyderabad)
findings of myocardial ischemia or infarction, the physician
should strongly suspect the diagnosis of ALCAPA. It is 2D
echo demonstrating the abnormal origin of left coronary
artery from pulmonary artery with color flow imaging
(retrograde flow from coronary artery to pulmonary artery)
almost confirms the diagnosis. But angiography (delineation
of origin of left and right coronary artery) is mandatory for
reconfirmation of the diagnosis particularly before
subjecting the patient for surgery. Those infants who survive
or remain asymptomatic, may present with MR, or a
continuous murmur.
DIFFERENTIAL DIAGNOSIS
The following conditions are considered as differential
diagnosis of ALCAPA.
a. In infants, dilated cardiomyopathy and myocarditis.
b. In children and adolescents mitral regurgitation due to
myocarditis or cardiomyopathy comes as differential
diagnosis.
c. Cases having continuous murmur are also considered
under differential diagnosis, they are PDA, Coronary
arterio venous fistula (CAVF), rupture of sinus Valsalva
aneurysm into right side chamber, arterio venous fistula
of internal mammary or inter costal vessels.
 Anomalous Left Main Coronary Artery from the Pulmonary Artery
ECG evidence of myocardial infarction pattern in infants
having CHF strongly favors ALCAPA. Those patients
present with MR, with ECG features of myocardial
infarction or ischemia, are differentiated from ALCAPA by
demonstration of anomalous origin of coronary artery.
Anomalies producing continuous murmur as already
mentioned are differentiated by history, physical examination
and investigations mainly by 2D echo with Doppler.
COMPLICATIONS
Common complications, which can occur in these patients
are (a) Myocardial infarction, (b) Mitral regurgitation, (c)
Left ventricular aneurysm, (d) Left ventricular fibroelastosis,
(e) Congestive heart failure, (f) Sudden cardiac death.
NATURAL HISTORY
The vast majority (more than 85%) of patients with ALCAPA
during infancy are critically ill and almost all of them die in
the first year of life, due to sever congestive heart failure if
left untreated. The 15 percent of patients who present
beyond infancy have an average life expectancy of 30 to
40 years and subsequently die of congestive heart failure
or sudden cardiac death. Thus, all patients with this anomaly
if untreated have a reduced life expectancy and they die of
various complications related to inadequate perfusion of
the left ventricle. But early diagnosis, intensive care during
infancy and surgery has changed the prognosis of ALCAPA.
GUIDELINES FOR MANAGEMENT
Infants suffering from congestive heart failure are treated
with caution, preferable in ICU with conventional deconges-
tive therapy with inotropic and supportive measures, till
191
they are stable for surgery. Digoxin should be avoided as
far as possible in postoperative period. Surgical skill and
procedure have changed a lot within last two decades.
Initially for ill infants ligation of anomalous origin of left
coronary artery was performed. Subsequently direct re-
implantation of the origin of left coronary into aorta is the
procedure. Recently early surgery establishing two coronary
vessels system (intrapulmonary tunnel operation, Takeuchi
repair) and left coronary artery implantation into aortic root
is rewarding and has improved the morbidity and mortality
rate.
SALIENT FEATURES
1. The anatomical abnormality is left coronary artery arises
from main pulmonary artery, and then runs a normal
course. Blood flow occurs from RCA through
anastomotic channels to LCA and then to a low resistant
pulmonary artery.
2. Infants after two to three months of age become sympto-
matic (restlessness and unusual cry) during feeding
and nursing care. Ultimately they go to resistant CHF.
3. A few infants may remain completely asymptomatic.
They later present with heart failure, MR or a continuous
murmur, the diastolic part of which is louder and longer
(unlike PDA) over the left sternal border.
4. ECG is characteristic, showing myocardial infarction
pattern.
5. 2D echo with Doppler confirms the diagnosis by
demonstrating the abnormal origin of left coronary artery
from pulmonary artery and showing retrograde flow from
left coronary artery to pulmonary artery. However
cardiac catheterization and angiography is mandatory
before surgery.
6. In recent years surgery (two coronary systems) is very
rewarding.
21 Aortic Arch Anomalies and Vascular Rings
BR Mishra, M Satpathy

INTRODUCTION respective side. Echocardiography and angiocardiography

are diagnostic by delineating the branching pattern of
Aortic arch anomalies basically belong to vascular
brachiocephalic vessels. CT and Magnetic Resonance
malformations. Vascular ring is a broad term, which refers
Imaging (MRI) also help by showing the relationship of the
to several arterial anomalies having common features of
arch and its vessels with the trachea and bronchus.
tracheal and/or esophageal compression by surrounding
blood vessels, part of which may or may not be patent
(atretic). In other words the aortic arch anomalies, which CLASSIFICATIONS
encircle and compress trachea or esophagus or both are
Edward’s Classification
known as vascular ring malformations. The ductus
arteriosus (patent or ligamentous) is an integral part of The first classification of aortic arch anomaly by Edward
vascular anomalies. Cardiac lesions are not included in this is as follows
anomaly, may occur as an associated lesion. I. Double aortic arch
II. Left aortic arch
HISTORY III. Right aortic arch
Reports of anomalous origin of right subclavian artery dates IV. Other rare anomalies.
back to 1735 by Hunault. Hommel in 1737 first described
Anatomical Classification
double aortic arch. Fioratti in 1763 described right aortic
arch. Dysphagia caused by anomalous right subclavian I. Abnormal branching
artery in neonates was first noticed by Bayford in 1789. II. Abnormal arch: right aortic arch, double aortic arch,
However, clinical diagnosis of aortic arch anomaly was cervical arch and supernumerary arch
made in 1930s with advent of barium swallow X-ray. III. Interrupted aortic arch
Schematic diagrams and hypothetical postulations of IV. Anomalous origin of pulmonary artery from ascending
possible aortic arch anomalies by Edwards made the aorta.
understanding of such anomalies easier.
Clinical Classification
SIDEDNESS OR LATERALITY
Vascular ring malformations are broadly divided into two
OF AORTIC ARCH
functional groups.
Left or right aortic arch is determined by which bronchus
it crosses, left aortic arch crosses over the left bronchus Group A
and right aortic arch crosses the right bronchus. The Those who produce clinical symptoms (known as complete
sidedness is determined from roentgenography pictures vascular ring). They are: double aortic arch, right aortic
(penetrating view), bronchogram and esophagogram, which arch with left ductus arteriosus, anomalous innominate artery
shows indentation of the trachea or the esophagus on and left aortic arch with right ductus arteriosus.
 Aortic Arch Anomalies and Vascular Rings
Group B
Those do not produce symptoms (known as incomplete
vascular ring). They are anomalous right subclavian from
descending aorta, right aortic arch with left descending
aorta and left aortic arch with right descending aorta. They
produce symptoms only when associated with other cardiac
lesions.
CLINICAL FEATURES
It is important for a physician to diagnose this anomaly
with accuracy (by clinical and non-invasive procedures)
as early as possible, so that early surgery can be performed
even in a sick neonate or infant, which may be life saving.
The main common features are respiratory distress
symptoms like dyspnea, stridor, cough and occasional
wheezing. There may occur typical respiratory sounds like
crowing or chocking. Brassy cough may be found some
times due to compression of recurrent laryngeal nerve by
the vascular ring. Difficulty in swallowing is rarely a
presenting feature, which may or may not be associated
with breathing difficulty in relatively older babies.
It should be kept in mind that respiratory distress with
stridor in neonate is commonly due to other causes like
laryngomalacia, tracheomalcia and several other noncardiac
conditions.
It is not possible to diagnose individual vascular lesions
clinically because these anomalies present with similar
symptoms and signs during infancy. In some cases,
symptoms appear very early and in other cases may appear
at later age and even in late childhood depending on the
severity of compression (tightness or looseness) of the
vascular ring.
INVESTIGATIONS
As these anomalies have common clinical symptoms and
signs, they have common investigatory procedures. Barium
esophagogram was the most useful non-invasive tool for
diagnosis in the past which shows indentation from behind
(retroesophageal compression). Now it has been replaced
by echocardiographic study to establish the diagnosis of
vascular ring malformations by delineating these vascular
structures. Aortography is mandatory in these anomalies
to confirm the diagnosis and to prepare the patient for
193
surgery. Lastly diagnostic procedures like tracheography
and bronchoscopy although give useful information but these
are hazardous for a sick infant. Digital subtraction
angiography and recently MRI and spiral CT give better
information than echocardiography.
LEFT AORTIC ARCH
Normal Left Aortic Arch
Left aortic arch is formed due to regression of the right
dorsal root (segment between the right subclavian and
descending aorta) and right ductus arteriosus. It is the
normal aortic arch (Fig. 21.1), which curves over the left
main stem bronchus at the level of the 5th thoracic vertebrae,
then becomes descending aorta which remains left to the
midline till it enters the diaphragm. The normal branching
pattern is that the first branch is right brachiocephalic (right
innominate) which courses to right and then bifurcates to
right subclavian and right common carotid artery. The
second branch is left common carotid and the third is left
subclavian. The ductus (ligamentum) joins distal to the left
subclavian. Minor variation in branching pattern is common
which has no clinical significance. Right innominate and
left carotid may arise from a common trunk in about
10 percent of normal population; this clinical condition
is known as “bitruncus”. In addition, in another 10 percent
of normal individuals, the left vertebral artery may arise
separately from the arch proximal to the left subclavian
artery.
Aberrant Right Subclavian Artery
Aberrant right subclavian artery from a normally placed
left aortic arch is the commonest arch anomaly occurring
in about 0.5 percent of the general population. It occurs in
about 20 percent of cases of vascular ring malformations.
In this anomaly the right subclavian artery does not arise
from the right innominate artery but it arises independently
from the descending aorta and courses behind the esophagus
in the majority of cases, in about 15 percent it may run
between trachea and esophagus and exceptionally it may
run anterior to trachea. The aberrant right subclavian artery
may compress esophagus from posterior side, producing
dysphagia (Bayford in 1789 termed it “Dysphagia lusoria”)
but in vast majority no compression or mild compression
is produced, hence there is no symptom. This anomaly is
 194 Clinical Diagnosis of Congenital Heart Disease
Fig. 21.1: Schematic diagram showing normal left aortic arch,
the first branch is right innominate which divides to right
subclavian (RS) and right carotid (RC), second branch is left
carotid (LC) and the third branch is left subclavian (LS), dark
line represents normally positioned ligamentum arteriosum
(Ao—aorta, PA—pulmonary artery, LPA—left pulmonary artery,
RPA—right pulmonary artery, LB—left bronchus, RB—right
bronchus, T—trachea and E—esophagus)
mainly associated with TOF, VSD, coarctation of aorta
and Down’s syndrome. Although this has no clinical signi-
ficance, but in coarctation of aorta when aberrant right
subclavian artery arises distal to coarct segment, the blood
pressure is less in right arm with a low volume pulse and
there is absence of rib notching on the right side. In
coarctation of aorta, origin of left subclavian or both
subclavian arteries may occur distal to coarct segment.
On barium esophagography a fixed filling defect is
detected, which is better appreciated by fluoroscopic
examination. Echocardiography helps in diagnosis but CT
and MRI delineates clearly the branching pattern and shows
the retro-esophageal course of the right subclavian artery.
RIGHT AORTIC ARCH
The aortic arch that crosses over the right mainstem
bronchus and passes on the right side of the trachea is
termed as right aortic arch. It occurs from persistence of
Fig. 21.2: Schematic diagram showing right aortic arch with
mirror image branching, the first branch is left innominate which
divides to left carotid (LC) and left subclavian (LS), second
branch is right carotid (RC) and the third branch is right
subclavian (RS), Arrow shows a left sided ligamentum
arteriosum (Ao—Aorta, PA—pulmonary artery, T—trachea, and
E—esophagus)
the right fourth branchial arch and right dorsal aorta, forming
the right aortic arch.
Note: In certain congenital heart diseases the incidence of
right aortic arch is very high. Right aortic arch has been reported
in TOF (13-34%), truncus arteriosus (30-40% of cases), dTGA
(8% of cases), tricuspid atresia (7.7% of cases), cTGA (10% of
cases) and pulmonary atresia with VSD in 20 percent of cases.
Several anomalies of branching of right aortic arch are
seen, the commonest being the right aortic arch with mirror
image branching (47%) followed by retroesophageal left
subclavian artery. Retroesophageal diverticulum is less
common and other abnormality of branching from a right
arch, like an aberrant innominate artery is also uncommon.
Right Aortic Arch with Mirror Image Branching
In this anomaly the pattern of branching of the right aortic
arch is like mirror image of the branching from a normal
left aortic arch (Fig. 21.2). It results from regression of
 Aortic Arch Anomalies and Vascular Rings 195

the left dorsal aortic root between the left ductus arteriosus
and descending aorta. The aortic arch crosses over the
right mainstem bronchus. Upper part of descending aorta
remains right to midline, but after a short distance it deviates
to left to enter a normally placed left sided diaphragmatic
hiatus. First branch is left innominate artery which divides
to left subclavian and left carotid artery, second branch is
right common carotid and third branch is right subclavian.
The ductus arteriosus or ligamentum arteriosum is usually
left sided bur right sided or bilateral ductus are also reported
which do not produce a vascular ring. Rarely the ductus
may connect the left pulmonary artery and upper descending
aorta forming a vascular ring. Right aortic arch with mirror
image branching is usually associated with cyanotic
congenital heart diseases (98% of cases).
Clinical Features
Right aortic arch with mirror image branching does not
produce symptom as there is no vascular ring. Symptoms
are due to associated cardiac anomalies. Rare exception is
an abnormal connection of left ductus joining left pulmonary
artery and right descending aorta forming a vascular ring
which produces symptoms as described earlier.
branch is right subclavian arteries. Left subclavian artery is
a continuation from a large diverticulum from the arch
behind the esophagus (retro-esophageal diverticulum of
Kommerell) (Fig. 21.3). The diverticulum is equal to the
diameter of descending aorta at its origin that abruptly tapers
to form the subclavian artery. This arrangement of vessels
with a left sided ductus produces complete vascular ring
malformation. Rarely in right aortic arch with mirror image
branching, the ductus may arise from the retroesophageal
diverticulum connecting the left pulmonary artery and thus
producing a vascular ring.
The clinical signs and symptoms are common to
vascular ring compression of trachea and esophagus as
described earlier. Plain chest X-ray shows right-sided aortic
arch (right sided indentation of trachea) and barium
esophagogram shows a large posterior indentation of eso-
phagus. It is difficult to image the diverticulum of Kommerell
by echocardiography due to intervening trachea and lung.
Angiography is mandatory to delineate the abnormal vessels.

Investigations
Right-sided indentation of trachea and esophagus are seen
on plain X-ray and esophagogram respectively without
posterior impression. However, echocardiography and
angiography confirms the diagnosis. In echocardiography,
suprasternal window images the arch, by rotating the
transducer the first branch can be traced to its bifurcation,
in right aortic arch the first branch courses to left instead
of normal rightward course and then divides to left carotid
and left subclavian. In addition, from a high parasternal
window, the upper descending aorta can be seen to the
right of trachea. These two echocardiographic features are
diagnostic of right aortic arch with mirror image branching.
Angiographic diagnosis also depends upon the sequence of
brachiocephalic branching from the arch to confirm all these
abnormalities. Fig. 21.3: Schematic diagram showing right aortic arch, left
subclavian (LS) originates from a large diverticulum (arrow)
Right Aortic Arch with Retro-esophageal from aorta behind the esophagus (diverticulum of Kommerell),
Diverticulum of Kommerell the first branch is left carotid (LC), second branch is right carotid
(RC), the third branch is right subclavian (RS), dark line
In this condition there is no innominate artery, the first indicates a left sided ligamentum arteriosum (Ao—aorta, PA—
branch is left carotid, second branch right carotid and third pulmonary artery, T—trachea, and E—esophagus)
 196 Clinical Diagnosis of Congenital Heart Disease
Right Aortic arch with Retro-esophageal
Left Subclavian Artery
Here the sequence of brachiocephalic branching from the
arch is similar to the above type but the proximal part of
the left subclavian is not larger in caliber as in diverticulum
of Kommerell. Presence of left sided ductus produces a
vascular ring. When ductus is right sided, no vascular ring
is formed. It is diagnosed from barium esophagography
showing smaller posterior indentation from behind as
compared to a retro-esophageal diverticulum. It may be
suspected by echocardiography when the first branch of
aortic arch courses to left but does not branch. CT, MRI
and angiocardiography help in the final diagnosis.
Right Aortic Arch with
Aberrant Innominate Artery
It occurs in about 10 percent of patients with vascular ring
malformations. Left innominate artery takes off too far to
the left from the right aortic arch or posteriorly after the
right carotid and right subclavian artery, then courses behind
the esophagus. Together with ductus arteriosus or
ligamentum arteriosum it completes the vascular ring and
may produce symptoms of tracheoesophageal compression.
It is usually associated with VSD.
DOUBLE AORTIC ARCH
It was first described by Hommel in 1937. Arkin first
described its roentgenographic findings and Wolmar
described typical clinical features.
It is the most common vascular ring seen in about
40 percent of cases. The right arch gives rise to right
common carotid and the right subclavian whereas the left
arch gives up the left common carotid and left subclavians
arteries. Right aortic arch is usually larger than the left one
(right aortic arch is the dominant one). The smaller left
arch lies anterior to trachea. Double aortic arch is
commonly an isolated anomaly (Fig. 21.4), however
occasionally it may be associated with TGA, VSD, PDA,
TOF and coarctation of aorta.
Embryology and Abnormal Anatomy
It represents persistence of both right and left fourth aortic
arch. The left arch passes infront of the trachea and crosses
over the left main stem bronchus (behaves as normal left
Fig. 21.4: Schematic diagram showing double aortic arch with
its branching pattern. Left arch (LA) and right arch (RA) encircle
the trachea (T) and esophagus (E) forming a vascular ring
(RS—right subclavian, RC—right carotid, LC—left carotid,
LS—left subclavian, Ao—aorta, PA—pulmonary artery, RPA—
right pulmonary artery, LPA—left pulmonary artery)
sided aortic arch) while the right sided one passes over the
right main stem bronchus and proceeds behind the trachea
and esophagus to join the descending aorta. These two
arches are known as double aortic arch. There is almost
always a left sided ductus arteriosus or ligamentum
arteriosum, which is not a part of vascular ring as in other
anomalies. Both arch join to form the descending aorta which
remain left to the spine, if it descends on right side of the
spine, then invariably left arch is dominant. Dominant arch
is contralateral to the side of descending aorta. There may
be atresia of one arch in part or in total or severe stenosis
of one arch may be seen.
Incidence
It is a rare anomaly. The incidence varies from 0.3-0.9
print of all congenital heart disease up to one year of age.
Clinical Features
The infant becomes very sick just after birth, because of
tracheal compression. Respiratory difficulty with stridor is
the common presenting feature. There occur contraction
of accessory muscles of respiration and intercostal
indrawing. Swallowing difficulty is less severe. Those few
who survive may develop dysphagia while taking semisolid
 Aortic Arch Anomalies and Vascular Rings
or solid food during early childhood. Episodes of apnea
may occur leading to cyanosis. Extension of head improves
respiratory difficulties and flexion of the head aggravates
symptoms. Except respiratory distress, clinical examination
reveals no abnormalities. In some cases with no significant
compression, signs and symptoms are usually delayed (till
late childhood) and so much so double aortic arch is
detected incidentally when investigated for other conditions.
Investigations
Plain X-ray shows anterior compression of trachea in lateral
view, barium esophagogram showing bilateral constriction
at aortic arch level in PA view and posterior indentation on
lateral view give the diagnosis. ECG is not helpful.
Echocardiography and especially spiral CT and MRI detect
the constricting vessels. Aortogram is diagnostic.
CERVICAL AORTIC ARCH
In cervical aortic arch the ascending aorta ascends
abnormally to the neck and the arch is found in the cervical
region between 3rd to 8th cervical vertebrae. The arch may
be found as high as second cervical vertebral level. This
rare anomaly is of two types. In the common form there is
right aortic arch and descending aorta crosses behind the
esophagus to the opposite side at about 4th thoracic vertebral
level and gives rise to anomalous left subclavian artery.
Rarely the arch may be on the left side of trachea and
crosses to right behind the esophagus where an aberrant
right subclavian artery is found. This group together with
the ductus (ligamentum) contralateral to arch constitute
vascular ring malformation. Here the brachiocephalic
branching pattern is variable. In the other group there is a
left aortic arch with normal branching or rarely a right aortic
arch but the descending aorta does not cross to the opposite
side. It does not produce a vascular ring. The long tortuous
retroesophageal course of the descending aorta may
compress the esophagus.
The diagnosis is suspected when a pulsatile mass over
supraclavicular fossa or on the neck is seen in an infant.
These patients when attain childhood or adolescence mainly
complain of dysphagia during taking solid foods. Subclavian
steal phenomenon may occur because of associated stenosis
of aberrant subclavian artery. Pressure over the pulsating
mass decreases the femoral pulsation. Plain X-ray shows
197
widening of upper media stinum and absence of aortic
knuckle. Anterior deviation of trachea on lateral film favors
the diagnosis. Echocardiography and aortography confirms
the diagnosis.
OTHER RARE AORTIC ARCH ANOMALIES
In rare anomalies of ‘left aortic arch with right descending
aorta’ and ‘right aortic arch with left descending aorta’
descending aorta itself remains retroesophageal and with
respective ductus/ligamentum (right sided ductus in left arch
and left sided ductus in right arch) may produce vascular
ring.
Isolation of any of the three branches of aortic arch
may occur, left subclavian arterial isolation being the most
common, in this situation the isolated branch does not take
origin from aortic branch, instead remain continuous with
a patent ductus arteriosus. They are usually associated with
cyanotic heart diseases, TOF being the most common.
ANOMALIES OF PULMONARY ARTERY
Aberrant Left Pulmonary Artery
It is a rare anomaly. The left pulmonary artery instead of
arising from a normal main pulmonary artery arises from
the right pulmonary artery to reach the left lung. This artery
takes anomalous course over the proximal portion of the
right main stem bronchus, i.e. behind trachea and in front
of the esophagus while entering to hilum of left lung.
Therefore, it compresses both trachea and esophagus but
produces mainly symptoms of tracheal obstruction like
wheezing, cough, stridor and episode of chocking and
sometimes cyanosis. Contrast to aortic arch anomaly that
surround the trachea and esophagus (vascular ring), the
aberrant left pulmonary artery separates the trachea from
esophagus and it is known as ‘Vascular Sling’. This
anomaly is usually associated with PDA, VSD, AV canal
defect, single ventricle and frequently with tracheal anoma-
lies. It is mainly diagnosed by pulmonary arteriography.
Absence of One Pulmonary Artery
It is usually associated with congenital heart disease (60%)
especially TOF, one pulmonary artery is absent contralateral
to the side of aortic arch. As the distal pulmonary artery is
usually present, it is also known as ‘occult pulmonary
 198 Clinical Diagnosis of Congenital Heart Disease
artery’. The involved lung gets blood from systemic colla-
terals, bronchial arteries or from a patent ductus. Symptoms
are due to associated heart disease otherwise it goes
unrecognized.
One Pulmonary Artery
Arising from Ascending Aorta
Usually the right pulmonary artery arises from the ascending
aorta above the sinus of Valsalva. It is always associated
with congenital heart disease. These patients develop
congestive heart failure in early infancy due to high
pulmonary flow. Those who survive go to early pulmonary
vascular disease.
Note: The signs and symptoms of aortic arch anomalies
depend on the tightness or looseness of the vascular ring
compressing the oesophagus or trachea.
The complete vascular rings such as double aortic arch
give rise to signs and symptoms early. Some patients may
develop gradual symptoms and some may remain completely
asymptomatic till late adulthood, depending on the severity
of compression. Aortic arch anomaly is suspected in
symptomatic infants by tracheal or esophageal impressions
on chest X-ray and esophagogram produced by anomalous
vessels. The final diagnosis is based on echocardiography,
spiral CT, MRI and angiocardiography.
GUIDELINES FOR MANAGEMENT
Patients having vascular ring detected during examinations
while investigated for some other purpose, causing no
symptoms are left as such. Infants with respiratory distress
or respiratory infection are treated efficiently. Feeding to
these infants need special care. When symptoms of tracheal
and esophageal compression are present and persists, early
surgical division of the vascular ring is the definitive
management.
SALIENT FEATURES
1. In aortic arch anomalies, vessels that encircle and
compress trachea and/or esophagus are known as
vascular ring malformations.
2. The ductus arteriosus (patent or ligamentum) is an
integral part of vascular rings.
3. Side of aortic arch is determined by which bronchus it
crosses, left aortic arch crosses over the left bronchus
and right aortic arch crosses the right bronchus.
4. The sidedness is diagnosed from plain chest X-ray
(penetrating view), bronchogram and esophagogram,
which show indentation of the trachea or the esophagus
on the respective side.
5. In echocardiography, CT, MRI and angiography, side
of arch is determined by delineating the branching
pattern of brachiocephalic vessels from the arch. Right
aortic arch is diagnosed from mirror image branching
of brachiocephalic vessels.
6. In certain congenital heart diseases like TOF, pulmonary
atresia with VSD and truncus arteriosus the incidence
of right aortic arch is high.
7. Compressive vascular rings clinically present with
respiratory distress like dyspnea, stridor, cough,
wheezing and difficulty in swallowing.
8. Respiratory distress with stridor in neonate is commonly
due to other noncardiac causes like laryngomalacia,
tracheomalcia and several other conditions which are
to be excluded.
22 Congenital Pulmonary Stenosis
N Desai, R Kumar, C Mahadevan, VS Prakash
SYNONYMS
Isolated pulmonary stenosis, simple pulmonary stenosis or
pulmonary stenosis with normal aortic root.
DEFINITION
Congenital obstruction to right ventricular outflow can
originate in the pulmonary valve (most common) or can
reside below or above the valve, which is known in broad
term as pulmonary stenosis (PS). Uncomplicated
pulmonary valve stenosis (isolated pulmonary stenosis) is
defined as an acyanotic malformation with normal or
diminished pulmonary arterial blood flow with an intact
ventricular septum which is seen in about 80 percent of
cases. The term valvar or valvular are used interchangeably.
HISTORY
Pulmonary valve stenosis as a congenital malformation was
first described in detail by John Baptist Morgagni in 1761.
He described anatomical details of the malformation in his
classic monograph. Other forms of pulmonary stenosis
were subsequently described by Sir Arthur Keith (Hunterian
lecture on obstructing muscle bundles in right ventricular
cavity—1909) and Oppenheimer who described stenosis
distal to pulmonary valve in 1938. The first open surgical
repair under cardiopulmonary bypass was done in 1953
and the first balloon pulmonary valvotomy was reported
by Semb in 1979.
ETIOLOGY
1. Congenital
2. Acquired: Acquired pulmonary stenosis is extremely rare
in clinical practice. The causes are:
A. Rheumatic heart disease (extremely rare, and, if seen,
is always associated with other valvular lesions)
B. Infective endocarditis (vegetation may produce right
ventricular outflow obstruction as a complication)
C. Carcinoid syndrome
D. Right ventricular thrombus
E. Tumors and stromal endometriosis
F. Echinococcus cyst.
EMBRYOLOGY
The pulmonary and aortic valves are formed from the four
endocardial cushions which appear at the distal end of the
bulbus cordis. The completion of the development of the
distal bulbus septum results in the division of each lateral
cushion into two, thus the number of thickenings is
increased to six; three associated with the pulmonary orifice
and three with the aortic. These are the rudiments of the
pulmonary and the aortic valves. Each cushion-derived
intrusion grows, which is in turn excavated on its truncal
aspects to form a semilunar valve cusp. The outflow portion
of the right ventricle (the infundibular portion) is formed
by the incorporation of the proximal portion of bulbus cordis
into the primitive right ventricle. The maldevelopment of
distal portion of the bulbus cordis results in development
of pulmonary stenosis. Pulmonary stenosis as a sequel
of fetal endocarditis has also been postulated.
PREVALENCE
In the pediatric population, prevalence of various forms of
pulmonary stenosis is 7.5 to 9.0 percent of all congenital
heart defects. Pulmonary stenosis may occur in as many
as 50 percent of all patients with congenital heart disease
when associated with other malformations. Familial
clustering and occurrence on the basis of genetic
abnormality has also been reported. Female preponderance
is observed.
ABNORMAL ANATOMY
The normal pulmonary valve is usually tri-leaflet, thin,
attached to annulus of the pulmonary ring and freely mobile.
Pulmonary valve stenosis is characterized by a thick, pliant,
 200 Clinical Diagnosis of Congenital Heart Disease
and conical or dome shaped structure representing the valve
apparatus, with a narrow outlet at its apex. The degree of
narrowing, however, is variable. Pinpoint pulmonary
stenosis in the neonate is sometimes referred as
“functional pulmonary atresia”. Post-stenotic dilatation
of the main pulmonary artery (MPA) is the rule and is usually
accompanied by disproportionate dilatation of the left branch
of MPA. It is due to high velocity (turbulence setup by the
jet) of blood ejected through the narrow orifice. Intere-
stingly, the degree of post stenotic dilatation is not propor-
tional to the severity of pulmonary stenosis. Post-stenotic
dilatation never occurs in infants. Calcification in the stenotic
pulmonary valve is uncommon, if present seen in older
subjects.
A less common variety of pulmonary stenosis is caused
by dysplastic valve. Obstruction in dysplastic valves is due
to thickening and reduced mobility of the three distinct valve
leaflets without commissural fusion. This abnormality
usually occurs as a part of Noonan’s syndrome.
Subvalvular pulmonary stenosis may be infundibular or
sub-infundibular. Infundibular pulmonary stenosis is caused
by an anterior and rightward malalignment of the infundibular
septum, and occurs in association with a VSD (usually
associated with TOF). Infundibular hypertrophy in cases
of severe PS may produce a second stenosis below the
valve. Isolated infundibular stenosis (without VSD) is extre-
mely rare. Sub-infundibular stenosis is due to an enlargement
of either the normal; or abnormal obstructing muscle
bundles within the right ventricular cavity (double
chambered right ventricle).
Figs 22.1A to C: Schematic diagram, arrow showing types of pulmonary stenosis (A) valvular, (B) infundibular, and
(C) supravalvular type (LA—left atrium, RA—right atrium, LV—left ventricle, RV—right ventricle, Ao—aorta, PA—pulmonary
artery)
Supravalvular pulmonary stenosis and multiple
supravalvular pulmonary stenoses are infrequently seen.
They usually occur in conjunction with other complex
syndromes such as Williams syndrome and Rubella
syndrome with pulmonary branch stenosis.
CLASSIFICATION
Anatomical
Traditionally, pulmonary stenosis has been classified as
valvular, subvalvular and supravalvular types (Figs 22.1A
to C). This classification is based on the anatomical abnor-
malities that are seen in diseased hearts after extensive
review of morbid anatomy.
Valvular pulmonary stenosis is in turn sub divided into
typical congenital pulmonary stenosis, functional pulmonary
atresia and pulmonary stenosis due to dysplastic valves. In
neonates severe PS is known as functional pulmonary atresia
or critical pulmonary stenosis. In these cases decreased
right ventricular compliance leads to right to left shunt
through patent foramen ovale. Subvalvular pulmonary
stenosis may be infundibular pulmonary stenosis, or sub-
infundibular pulmonary stenosis as described earlier. Supra
valvular pulmonary stenosis may be sub classified into three
types: (i) Narrowing of the pulmonary trunk, (ii) Narrowing
of the bifurcation of the pulmonary trunk which may
produce saccular constriction of both pulmonary arteries
at its origin (known as Sandergard’s coarctation), and
(iii) Narrowing of the peripheral pulmonary artery branches.
Although this classification takes into account the
anatomical and pathological features of pulmonary stenosis,
it does not give enough information about the
 Congenital Pulmonary Stenosis
hemodynamics and thus is inadequate when it comes to
the understanding of basic physiology that exists in such
anomaly.
Hemodynamic Classification of PS
The severity of stenosis is reflected by the magnitude of
the systolic pressure difference between right ventricle (RV)
and pulmonary artery (PA). Normally systolic pressures
are equal or slightly more in RV. Normal systolic pressure
is approximately 15 mm of Hg in PA. A small pressure
gradient between RV and PA may be present in normal
individuals not exceeding 5 mm of Hg.
a. Grading of PS according RV systolic pressure.
• Mild PS when RV systolic pressure is < 50 mm of
Hg.
• Moderate PS is 50 to 80 mm of Hg.
• Severe PS when it is > 80 mm of Hg.
b. According to ratio of RV peak systolic pressure and LV
(Systemic) peak systolic pressure
• Mild PS—When RV systolic pressure is less than
50 percent of LV peak systolic pressure.
• Moderate PS—When RV systolic pressure 50-75
percent of LV peak systolic pressure.
• Severe PS—When RV systolic pressure equals or
exceeds LV systolic pressure.
c. Grading of PS may be done according to valve area.
But this grading is less practical from the management
point of view.
• Normal pulmonary valve area is 2.0 to 3.0 cm2/m2
of body surface area.
• Mild PS is present when valve area is 0.8 to 1.5
cm2/m2 .
• Moderate PS →0.5 to 0.8 cm2/m2.
• Severe PS → < 0.5 cm2/m2.
HEMODYNAMICS
Irrespective of the location of the obstruction in the right
ventricular outflow tract, the entire spectrum of conditions
included under pulmonary stenosis, physiologically behave
as one disease. In patients with mild pulmonary stenosis,
there are no major physiological abnormalities. In patients
with moderate to severe pulmonary stenosis, the physio-
logical consequences of pulmonary stenosis are due to the
resistance to right ventricular outflow, which is related to
201
the severity of obstruction. By definition, the systolic
pressure is elevated proximal to the stenosis and is low
distally. The adaptive response of the right ventricle is
myocardial hypertrophy, characterized by an increase in
free wall mass and ventricular septal thickening. Right
ventricular volume is initially normal, especially in young
patients, but is often diminished in neonates with pinpoint
pulmonary stenosis.
As a consequence of right ventricular hypertrophy, right
atrial pressure rises to fill the noncompliant hypertrophied
RV and this chronically elevated right atrial pressure
produces right atrial enlargement. Long-standing severe
pressure load result in right ventricular dysfunction. As
long as the RV stroke volume and cardiac output is
maintained, no symptoms appear. In moderate to severe
PS cardiac output is maintained at rest, but decreases with
exercise producing exertional symptoms. In severe PS,
increase right atrial pressure may stretch the foramen ovale
leading to a right to left shunt resulting in mild, and rarely,
severe cyanosis, thereby raising a differential diagnosis of
TOF at bedside.
Chronic right ventricular pressure overload can be
accompanied by diastolic and systolic dysfunction of left
ventricle because the hypertrophied septum causes changes
in the geometry of left ventricle.
VALVULAR PULMONARY STENOSIS
Clinical Features
Symptoms
As a rule, when a patient of pulmonary stenosis is sympto-
matic, it is always severe. Hence, a diligent evaluation of
history is important with particular reference to exertional
dyspnea, exertional syncope and chest pain. When cyanosis
appears on exertion, it more often indicates pink TOF rather
than isolated mild or moderate pulmonary valvular stenosis.
Cyanosis in pulmonary stenosis, when present, indicates a
right to left shunt at the atrial level due to severe pulmonic
stenosis. Congestive heart failure occurs due to RV failure
which is commonly seen in two extreme age groups, either
during infancy or in late adulthood.
Signs
The severity of obstruction is often suggested by the
physical findings.
 202 Clinical Diagnosis of Congenital Heart Disease
Mild PS: Patients are asymptomatic, have normal growth,
and good exercise tolerance. On examination JVP is normal,
normal apical impulse, systolic thrill is rare, heart sounds
are normally heard with normal splitting of S2, inconstant
ejection click (intensity varies with respiration) is audible
(due to opening of the deformed dome shaped valve) and it
is better heard in expiration.
Note: Inconstant ejection click is better heard during expiration
which is typically opposite of right heart events.
Ejection systolic murmur 2-3/6 over the pulmonary area
with maximum intensity in the first half of the systole (kite
like murmur) is present which increases in intensity during
inspiration.
Moderate PS: Most of these patients are also asympto-
matic, acyanotic, have good effort tolerance and have
normal growth. On examination, in JVP a-wave may be
prominently visible, second heart sound is widely split with
late P2 (normal to decreased intensity), RV S4 is sometimes
audible (due to forceful atrial contraction), inconstant
pulmonary ejection click is audible over left upper sternal
border and ejection systolic murmur 3-4/6 (louder and longer
than mild one) is audible with inspiratory increase.
Severe PS: These patients are symptomatic from early
childhood; effort dyspnea and fatiguability (due to decreased
cardiac output) are the usual features. Some patients often
complain of effort anginal pain and effort syncope. Cyanosis
is usually peripheral type due to low cardiac output but
sometimes it may also be central, if a right to left shunt
through stretched foramen ovale is present.
Chubby cheek like facies in infancy and moon like facies
in childhood or young adults are seen in some cases. Pulse
is of low volume, a sustained left parasternal heave is
present, apical impulse is diffuse (RV type), systolic thrill
over the pulmonary area and presystolic pulsation of liver
is often palpable. JVP shows giant a-wave (right atrial
presystolic gallop) and it is raised with onset of RV failure.
On auscultation second heart sound is widely split with
decreased intensity of P2 (sometime absent) and very often
right ventricular S 4 is present due to forceful atrial
contraction. Right ventricular S3 if present indicates RV
failure. If there is no RV failure but S3 it indicates associated
ASD or PAPVC. In severe PS pulmonary ejection click
may be absent, or it is very close to S1 because increased
Fig. 22.2: Shape and duration of murmur, S1-EC, A2-P2 interval
and intensity of P2 according to the severity of pulmonary
stenosis
RV pressure keeps the pulmonary valve open before
ventricular systole. Ejection systolic murmur is very loud
grade 5-6/6 and long with late systolic peak over pulmonary
area and also audible over whole of the precordium.
Note: Clinically symptoms like dyspnea, syncope, anginal pain
along with cyanosis, indicate severe valvular PS. Duration of
systolic murmur and degree of splitting of S2 are directly
proportional and the interval between ejection click and S1 is
inversely proportional to the severity of PS (Fig. 22.2).
Critical Pulmonary Stenosis
This clinical condition is also known as functional pulmonary
atresia as it behaves like pulmonary atresia with intact
septum. The fundamental difference is that in this condition
the pulmonary valve is present with a pinhole opening
whereas in pulmonary atresia the pulmonary valve is
rudimentary, dysplastic and completely imperforate.
Neonates present with cyanosis, CHF, hypotension,
feeding difficulty and tachypnea. On auscultation there is
no appreciable murmur and ECG findings of LVH (as RV
is hypoplastic) raise the possibility of critical pulmonary
stenosis.
Investigations
Electrocardiography
Presence of right ventricular hypertrophy (RVH) helps in
assessing the severity of pulmonary stenosis. There is a
good correlation between ECG findings and the severity of
pulmonary stenosis.
• Mild PS →ECG is Normal
• Moderate PS→ right axis deviation (QRS axis +92° to
+130°), RVH (R in V1 10 to 15 mm).
• Severe PS (Fig. 22.3)→ right axis deviation (QRS axis
+100° to +140°), tall and peaked P is seen in lead II and
V1 in about 50 percent of cases indicating right atrial
enlargement and tall R or qR in V1, V2 or V4R (height of
 Congenital Pulmonary Stenosis 203

R usually 20 mm) are present with ST depression and

T inversion indicating RVH with strain pattern (systolic
overload) (Fig. 22.3). There is a good correlation
especially in children and adolescents between the height
of R wave in V1 with the severity of pulmonary stenosis.
R in V1 in mm, multiplied by 5 gives the systolic
pressure in RV in mm of Hg.
In critical PS (seen in neonates with hypoplasia of RV) Fig. 22.3: ECG of severe PS showing features of right axis
QRS axis may point to right upper quadrant, T invertion in deviation, right atrial enlargement, right ventricular hypertrophy
with systolic overload pattern
precordial leads and in some cases LVH is seen.
ECG findings of left axis deviation with RVH in
clinical setting of PS indicate Noonan syndrome
(dysplastic pulmonary valve).

Radiography
Cardiac size is usually normal. The characteristic appearance
in valvular PS is because of its post stenotic dilatation of
the pulmonary artery, which occurs irrespective of the
severity of PS (Fig. 22.4). The pulmonary vascular markings
in mild and moderate PS are within normal limits and may
be decreased in severe PS. With onset of right heart failure
and a low cardiac output, the lung fields become increasingly
oligemic. Cardiomegaly with RV enlargement indicate
presence of congestive heart failure.

Echocardiography Fig. 22.4: Chest X-ray of PS showing RV contour, RA

A definitive and complete diagnosis of the condition is
possible with two dimensional, color flow, and Doppler
echocardiography. Transthoracic 2D echo is adequate to
image the RVOT, pulmonary valve, pulmonary annulus,
main pulmonary artery and its proximal branches. Parasternal
short axis view at the base provides excellent window to
image all the above mentioned structures. In infants,
subcostal view is used.
In 2D echo the site of pulmonary stenosis can be known
whether it is subvalvular, valvular or supravalvular. In
valvular stenosis, typical features are valve is thickened,
with restricted systolic motion and doming of the valve
occurs in systole. In older children or adult calcification of
valve may be found. The classical M-mode echocardio-
graphic finding of relative increase in depth of ‘a’ wave of
pulmonary valve tracing is of historical interest. Doppler
echo (multiple transducer position) helps to evaluate the
degree of stenosis depending on the systolic gradient across
the stenotic lesions (Fig. 22.5). Peak systolic gradient up
enlargement, arrow showing post-stenotic dilatation of
pulmonary artery and decreased vascularity
to 40 mm Hg suggests mild stenosis, 40-60 mm Hg suggests
moderate, and > 60 mm Hg suggests severe stenosis. The
size of pulmonary valve annulus can be measured and a
dysplastic valve if present is well delineated. In fact, decision
regarding further management including balloon
valvuloplasty is possible by echocardiographic evaluation
alone.
Cardiac Catheterization and Angiocardiography
Catheterization is not indicated as a routine evaluation in all
patients. It is usually planned as a combined procedure with
balloon pulmonary valvuloplasty. The right ventriculogram
is used to assess the right ventricular outflow tract and the
pulmonary arteries. The valve characteristics including
the thickening, systolic doming, infundibular
thickening and post-stenotic dilatation can also be
demonstrated. Using an end hole catheter, a pressure
 204 Clinical Diagnosis of Congenital Heart Disease
Figs 22.5A and B: Echocardiography of PS, (A) Left panel
shows dilated main pulmonary artery in short axis, right panel
shows mosaic color flow suggestive of a significant obstruction.
(B) CW Doppler recording across pulmonary valve showing
significant systolic gradient (Courtesy: Dr SK Sahoo, Cuttack)
withdrawal tracing across the stenosis is obtained
(Fig. 22.6). The pulmonary valve orifice is delineated before
balloon dilation. Angiocardiography clearly distinguishes
dome shaped pulmonary valve and dysplastic valves
(Fig. 22.7). Marked thickening of pulmonary valve and no
doming indicate dysplastic valve which is common in
Noonan syndrome.
Diagnosis
Symptoms like dyspnea, exertional syncope and anginal
pain occur in severe PS. Wide but varying splitting of second
heart sound with soft P2, pulmonary ejection click and
ejection systolic murmur over pulmonary area (length of
murmur directly proportional to severity) are hallmarks
of the diagnosis of valvular pulmonary stenosis. ECG shows
right axis, right atrial enlargement and right ventricular
hypertrophy. Roentgenography findings of post stenotic
Fig. 22.6: Pullback tracing obtained from a patient with
pulmonary stenosis. The black arrow shows the sudden
elevation of pressure indicating the presence of a systolic
gradient. The gradient is about 30 mm Hg (PA—pulmonary
artery, Inf—Infundibulum, RV—right ventricle)
Fig. 22.7: Right ventricular angiography illustrating valvular
pulmonary stenosis with post-stenotic dilatation of the main
pulmonary artery
dilatation of main pulmonary artery with normal or decrease
pulmonary vascularity further supports the diagnosis.
Echocardiography confirms the type and severity of PS.
Differential Diagnosis
Clinical conditions characterized by an ejection systolic
murmur over upper left parasternal border in the absence
of cyanosis are considered for differential diagnosis. They
are atrial septal defect (ASD), supracristal VSD and
acyanotic tetralogy of Fallot. When cyanosis is present
due to right to left shunt at atrial level in severe valvular PS
it is commonly confused with a classical tetralogy of Fallot
(TOF). But certain feature given in Table 22.1 can clearly
differentiate these two conditions.
 Congenital Pulmonary Stenosis 205

TABLE 22.1: Severe pulmonary stenosis with reversal of shunt vs tetralogy of Fallot

Severe PS with reverse shunt TOF

General appearance Moon like (pink) facies, arachnodactyly No specific type

History of squatting and Absent Cyanotic spell and squatting common

cyanotic spell complaints

Cyanosis Mild to moderate may appear only on exertion Cyanosis even at rest

JVP Giant a-wave Normal JVP

Parasternal heave Present Absent

Systolic thrill Present Absent

Second heart sound Normal with delayed and diminished P2 Second sound is single (only A2)

S4 Audible (due to increased force of RA contraction) Not audible

Ejection click Inconstant Pulmonary ejection click No pulmonary click (aortic EC present)

Murmur Harsh ejection systolic murmur more than grade 3/6 Ejection systolic murmur less than grade 3/6

Roentgenography RA and RV enlargement, post stenotic dilatation of PA Coeur en Sabot, pulmonary bay concave
(boot shaped heart)

ECG RVH with strain pattern (tall R in V1), RA enlargement RVH with early transition.
No RA enlargement

ASD Roentgenography showing an inconspicuous main pulmo-

The main clinical points which help in diagnosis of ASD
are precordial pulsations, ill sustained left parasternal heave
(features of volume overload of RV), wide and fixed splitting
of second heart sound with loud P2, absence of an ejection
click (EC present in PS), “Incomplete RBBB” in ECG and
cardiomegaly (dilated right atrium), with pulmonary plethora
in roentgenography, support the diagnosis of ASD.
Supracristal (Outlet) VSD
In an outlet VSD, the location of the systolic murmur in
left second intercostal space can closely mimic PS. But
pansystolic nature of murmur, absence of ejection click
and normal to loud P2 help to differentiate it from PS. The
ECG findings in VSD are characteristically of biventricular
hypertrophy (only RV enlargement in PS). Roentgeno-
graphy finding of pulmonary plethora (oligemia in PS)
support the diagnosis of VSD.
Acyanotic TOF (PS + VSD)
A silent precordium, cyanosis on exertion, no a-wave in
JVP (unlike in PS) is seen in TOF. The type of murmur in
acyanotic TOF is similar to PS but may be heard best a
little lower due to infundibular nature of stenosis.
nary artery segment and ECG showing sudden transition
of QRS complex from V1 or V2 (unlike in PS) are charac-
teristic findings to differentiate acyanotic TOF from PS. In
all these cases echocardiography settles the diagnosis.
COMPLICATIONS
1. Congestive heart failure. In infants mainly due to critical
PS or severe PS. In adults due to uncorrected severe
PS.
2. Infective endocarditis occurs in all age groups.
3. Pulmonary regurgitation, occurs due to infective
endocarditis and post interventional or post surgical
procedures.
4. Arrhythmias mainly supraventricular type occur in
infants with severe PS. In late adulthood it occurs due
to chronic RV pressure overload.
DYSPLASTIC PULMONARY VALVE
It is primarily a valvular defect caused by dysplasia of
pulmonary valves, which are thickened and less mobile
without commissural fusion. Annular narrowing, less mobile
thick valve cause obstruction at valve level. Noonan
syndrome is commonly associated with these types of
 206 Clinical Diagnosis of Congenital Heart Disease
valves. Clinical features of Noonan’s syndrome are moon
like facies, retarded growth, webbed or short neck, ptosis
and skeletal deformities like kyphoscoliosis. S2 is normal in
intensity with delayed P2 and there is no ejection click,
ejection systolic murmur 3-4/6 is heard over left upper third
and fourth left sternal border. ECG findings are like that of
valvular PS, however, left axis deviation if present goes in
favor of Noonan’s syndrome. Radiological finding shows
no post stenotic dilation unlike that of valvular PS.
Echocardiography and right ventricular angiography clearly
delineates the thick dysplastic valve.
INFUNDIBULAR PULMONARY STENOSIS
Isolated infundibular stenosis is rare. Usually it is associated
with a VSD as a part of TOF. On examination of isolated
infundibular PS apical impulse is normally felt, there is no
parasternal heave, systolic thrill is mainly felt over pulmo-
nary area, second heart sound is normally heard (normal
P2 or may be diminished), there is no pulmonary ejection
click and ejection systolic murmur 3-4/6 is heard maximally
over third and fourth space. This systolic murmur peaks
up early then abruptly decreases (due to contraction of
outflow tract). The characteristic finding is that no post
stenotic dilatation of pulmonary artery is seen on the X-ray
(unlike valvular PS).
DOUBLE CHAMBERED RIGHT VENTRICLE
Double chambered right ventricle is usually associated with
intact ventricular septum. The ventricular chamber is divided
into two parts by an obstructive fibrous band arising from
Infundibular region. This condition is also known as double-
chambered right ventricle. The two chambers are, a proximal
sinus chamber (high pressure chamber) and a distal
infundibular chamber (low pressure chamber).
Note: The distal Infundibular chamber when dilated behaves
as a third ventricle.
Clinically these patients are asymptomatic. A systolic
thrill over upper left parasternal border is frequently felt.
First heart sound is normal, second heart sound is widely
split with decreased P2, there is no ejection click; systolic
murmur is audible over lower parasternal border. The
severity of this lesion does not correlate with duration of
systolic murmur.
Chest X-ray findings mimic those of PS but post
stenotic dilatation of pulmonary artery is absent. ECG
shows relative low amplitude R in V1 and V3R, but upright
T in V3R (normally T is inverted in V3R) is present, which
suggests infundibular stenosis. 2D echo with color flow
imaging shows mosaic pattern at the site of the obstruction.
Echocardiography and cardiac catheterization can measure
the pressure in both chambers (proximal and distal). Right
ventriculography is mandatory for accurate delineation of
the size and shape of anomalous chamber and muscle bundles
present in RV cavity. As the condition is a progressive one,
careful follow up and appropriate surgical management is
necessary.
Common Associated Cardiac Lesions with PS
A. Anomalies commonly associated with PS are VSD,
PDA, TOF, TGA and Ebstein anomaly of the tricuspid
valve.
B. Syndrome complexes involved with PS are: Noonan syn-
drome, Leopard syndrome with pulmonary artery
stenosis and Carcinoid syndrome.
Natural History
Mild to moderate pulmonary stenosis is well tolerated. The
patient may remain either asymptomatic or exhibit minimal
symptoms, which sometimes not necessarily be due to the
heart condition. Female patients having mild to moderate
PS tolerate pregnancy very well. The severity of the stenosis
determines the morbidity. Severe pulmonary stenosis may
be associated with decreased cardiac output, right ventricular
hypertrophy, cyanosis and congestive cardiac failure
resulting in premature death. An infant suffering from
critical pulmonary stenosis need urgent intervention
otherwise the prognosis is grave. The course of severe
pulmonary stenosis may be further complicated by atrial
tachyarrhythmias, especially atrial fibrillation. The patients
of PS, irrespective of severity of the stenosis, are prone to
infective endocarditis, which can result in varying degrees
of pulmonary regurgitation (PR) unless the endocarditis is
treated early and aggressively.
Patients with mild pulmonary stenosis grow normally
and enjoy normal life. Those who have moderate PS usually
become symptomatic in adulthood. If the lesion does not
progress, they remain almost asymptomatic. Severe cases
become progressively symptomatic and develop congestive
heart failure.
The average age of death of patients with severe PS in
different studies varies from 20.6 to 26 years of age without
intervention. Now a days in general all patients with peak
 Congenital Pulmonary Stenosis
systolic trans-valvular gradient more than 50 mm of Hg are
subjected to interventional procedure irrespective of age
and symptoms. Balloon pulmonary valvoplasty and
pulmonary valvotomy have changed the natural history of
severe PS.
GUIDELINES FOR MANAGEMENT
Medical Management
Patients of mild to moderate valvular pulmonary stenosis
are asymptomatic and need no specific treatment except
infective endocarditis prophylaxis. However periodic
echocardiographic check up is desirable to follow up the
natural course and to assess the severity from time to time.
Once patients are symptomatic, it indicates pulmonary
stenosis is severe and these patients need specific
management. Neonates or infants presenting with severe
pulmonary stenosis are critically ill and require care in a
tertiary center with special attention to correction of fluid
and electrolyte abnormalities. Some patients may also require
ventilatory support. Prostaglandin E1 infusions to keep the
ductus open and conventional decongestive therapy
(Diuretics and digoxin) along with inotropic support may
be required depending on the clinical condition.
Patients having severe pulmonary stenosis need early
interventional or surgical treatment. When the transvalvular
gradient is more than 50 mm Hg, intervention is indicated.
Balloon valvuloplasty is the procedure of choice in severe
PS. It was first reported by Semb in 1979 and the first
successful balloon pulmonary valvoplasty was performed
in the year 1980 by Rumbo. Balloon pulmonary valvuloplasty
is well tolerated but is more risky in infants younger than
six months, especially neonates with critical stenosis.
Angioplasty of branch pulmonary artery stenosis has been
accomplished, but carries a significantly higher risk than
balloon pulmonary valvuloplasty (BPV). Echo is useful in
the follow up of patient to detect progression, both before
and after valvotomy. It is also useful to detect residual
stenosis and presence of pulmonary regurgitation after
valvuloplasty.
Note: During passage of the catheter through critical
pulmonary valvular stenosis, PGE1 should be continued in
newborns or in young infants to keep the duct patent for
alternative route of blood supply to lungs.
207
First successful surgical pulmonary valvotomy was done
in 1948 by Sellors and Brock. Surgery is indicated where
balloon valvotomy is not available or unsuccessful. It is
also a procedure of choice in dysplastic pulmonary valve.
Minimally invasive surgery is recently done in many centers.
Dysplastic valve may require valve replacement. Double
chambered RV requires surgical resection of muscle bundles
to relieve obstruction.
SALIENT FEATURES
1. Patients with moderate to severe PS are symptomatic
on moderate exertion.
2. Some cases of valvular PS have typical moon like facies.
3. S 2 is widely split with delayed and diminished (or
absent) P2. Pulmonary EC is present and ESM 3-5/6
over pulmonary area with a systolic thrill indicates
presence of valvular PS.
4. Loudness and length of murmur is directly proportional,
S2-EC gap is inversely proportional to the severity of
the lesion. Later the peak of murmur more severe the
stenosis (Kite shaped murmur).
5. ECG shows right axis deviation, right atrial enlargement
and RVH. The degree of RVH is related to the severity
of valvular PS.
6. On roentgenography cardiomegaly may be seen due
to RA enlargement, post-stenotic dilatation is
characteristic of valvular PS. Vascularity is normal to
decreased.
7. Echocardiogram confirms the diagnosis and determines
the severity by delineating the anatomy of the valve
(thickening and doming), site of stenosis and gradient
across the valve.
8. Balloon dilatation is the treatment of choice, failing which
surgical pulmonary valvotomy is advised.
Critical PS
1. These infants are symptomatic from early infancy, they
become critically ill when closure of ductus occurs.
2. Cyanosis may be present. Critical PS functionally
behaves as a case of pulmonary atresia with intact
ventricular septum.
3. Infants present with hypotension, cyanosis, single S2,
no murmur with ECG findings of LVH, is difficult to
diagnose clinically critical PS unless echo confirms it.
4. Echo differentiates it from pulmonary atresia by
demonstrating the presence of pulmonary valve and
flow across pin hole orifice.
5. Immediate catheter intervention is life saving.
 208 Clinical Diagnosis of Congenital Heart Disease

Congenital Pulmonary Regurgitation

N Desai, R Kumar, C Mahadevan, VS Prakash

INTRODUCTION
Pulmonary regurgitation produced by congenitally defective
or absence of pulmonary valves is known as congenital
pulmonary regurgitation (PR). Isolated PR is a rare acyanotic
anomaly (Fig. 22.8). But commonly it is associated with
tetralogy of Fallot (TOF) as a distinct entity known as “TOF
with absent pulmonary valve”, which is a cyanotic anomaly.

History
Osler in 1892 described this anomaly as congenital
pulmonary regurgitation. Isolated congenital pulmonary
regurgitation was first described by Kezdi et al in 1955.
AETIOLOGY AND INCIDENCE
Congenital
1. Absence of pulmonary valve: Isolated absence of
pulmonary valve with intact ventricular septum is
extremely rare, absence of pulmonary valve is invariably
associated with TOF (2 to 6% cases of TOF have absent
pulmonary valve). It may also be associated with PDA,
VSD (not TOF) and Marfan’s syndrome.
2. Congenital valve abnormalities: These are fenestrations
or redundant leaflets seen in valves which are
hypoplastic or bicuspid or having unequal cusps.
3. Dilatation of pulmonary valve ring due to pulmonary
arterial hypertension or due to idiopathic dilatation of
pulmonary artery.
Acquired Causes
1. Post interventional and post surgical valvotomy can
produce PR. Surgically induced PR also occur after
total correction of TOF and other conditions requiring
RVOT repair/reconstruction.
2. Carcinoid syndrome, rubella syndrome, traumatic and
infective endocarditis can cause PR.
Fig. 22.8: Schematic diagram of significant pulmonary
regurgitation. There is RA, RV and pulmonary arterial
enlargement (LA—left atrium, RA—right atrium, LV—left
ventricle, RV—right ventricle, Ao—aorta, MPA—main
pulmonary artery)
INCIDENCE
As mentioned earlier isolated congenital pulmonary
regurgitation is rare. When clinically present, it is usually
associated with TOF and sometimes with other anomaly
like VSD.
ABNORMAL ANATOMY
There are three basic types of pulmonary regurgitation (PR)
encountered in clinical practice.
a. PR due to defects in pulmonary valve or pulmonary
annulus as an isolated anomaly.
b. PR in a normal valve due to pulmonary arterial
hypertension (PAH) of varying etiology.
c. PR due to absence pulmonary valve in association with
TOF.
The following discussion is based on isolated PR due to
defect in the valve / annulus. PR due to PAH is discussed in
the chapter on “Eisenmenger’s syndrome” and absent
pulmonary valve with TOF is discussed in the chapter on
TOF.
 Congenital Pulmonary Regurgitation
HEMODYNAMICS
Irrespective of the cause, pathophysiology of pulmonary
regurgitation is volume overload of right ventricle (RV).
During diastole RV gets large volume of blood from
pulmonary artery (PA) through the regurgitant valve besides
systemic venous return from RA. This regurgitation
occurs due to diastolic pressure difference between PA
(10 mm of Hg) and RV (3-6 mm of Hg) throughout the
diastole. RV compensates by dilatation and hypertrophy.
With long standing volume overload, eventually RV fails
and end-diastolic pressure is increased which leads to
increased RA pressure that clinically gives rise to signs of
congestive heart failure.
CLINICAL PRESENTATION
Symptoms
Pulmonary regurgitation is seldom clinically significant. In
long standing severe cases, dyspnea on exertion is the most
common complaint. Easy fatigability, light headedness,
peripheral edema, chest pain, palpitations are late symptoms.
Peripheral edema and syncope indicate right sided heart
failure. In more advanced cases of right-sided heart failure,
abdominal distension due to ascites, right upper quadrant
pain due to hepatic distension and loss of appetite are usual
features.
Signs
Jugular venous pressure (JVP) is raised when RV failure
occurs. The ‘a’ wave may be less apparent in presence of
significant tricuspid regurgitation (obscured by a dominant
‘v’ wave). Right ventricular systolic pulsation is felt due to
RV enlargement at lower sternal border. Pulmonary artery
pulsation is palpable due to pulmonary artery dilatation over
upper sternal border.
On auscultation S2 is widely split because of delayed
P2. This occurs because of increased capacitance of a dilated
pulmonary artery which delays the closure of pulmonary
valve. The degree of splitting increases with inspiration.
Right ventricular S3 may be present at the left lower sternal
border due to right ventricular failure. The regurgitant flow
murmur (PR murmur) is characteristically a low pitched,
delayed onset, crescendo decrescendo short diastolic
murmur (starts after P2 and ends before S1). It is heard
209
best at the upper left sternal border. This murmur is made
louder by squatting or inspiration and softer by Valsalva
maneuver or expiration. It differs from the murmur of
PR due to PAH (Graham Steell murmur) where the
high pressure in the pulmonary artery causes a high pitched
early diastolic (starts with P2) decrescendo murmur similar
to aortic regurgitation murmur. Ejection systolic murmur
of low frequency (during systole higher stroke volume is
ejected from RV to a dilated PA) is audible over the same
areas. In rare case of isolated congenital pulmonary
regurgitation due to absence of pulmonary valve, P2 and
ejection click are not audible.
INVESTIGATIONS
Electrocardiography
ECG is typical of RV volume overload. There is right axis
deviation, right ventricular hypertrophy in the form of
incomplete RBBB pattern. Right atrial enlargement is
uncommon.
Radiography
The typical radiological feature of PR is dilatation of main
pulmonary artery and its main branches. It is pulsatile when
seen under fluoroscopy. Cardiomegaly is common.
Sometimes huge cardiomegaly may be due to RV
enlargement. Pulmonary vascularity is normal or decreased.
Echocardiography
M-mode echocardiography and two-dimensional
echocardiography (2DE) are helpful in demonstrating
paradoxical septal motion, right ventricular hypertrophy and
dilatation. The absence of the pulmonary valve or presence
of valve deformities is well delineated by 2D echocardio-
graphy. In some cases, pulmonary ring dilatation with poor
valve leaflet coaptation may be observed. Doppler techniques
are used to visualize the regurgitant flow. These techniques
are useful to directly measure the flow velocity of the
regurgitant jet and accurately estimate pulmonary pressure.
Contrast to hypertensive PR, there is no significant end
diastolic gradient across the pulmonary valve. Doppler
measurement of velocity of tricuspid regurgitation, which
is usually present, helps in quantifying the RV systolic
pressure.
 210 Clinical Diagnosis of Congenital Heart Disease
Note: Trivial to mild PR is commonly seen during color
Doppler examination in a normal pulmonary valve, but not
considered abnormal.
Cardiac Catheterization
Left sided hemodynamic parameters are normal. The
characteristics findings are, the endiastolic pressure of RV
and diastolic pressure of pulmonary artery are equal and
the systolic pressure of both RV and PA are same with no
significant pressure gradient.
Diagnosis
In an asymptomatic acyanotic individual when a short
crescendo decrescendo, low pitched diastolic murmur is
audible over 2nd and 3rd left sternal border with wide split
but variable S2 and diminished P2, the isolated pulmonary
valve regurgitation is suspected. X-ray chest shows hugely
dilated MPA and its pulsation under fluoroscopy with
normal or decrease pulmonary vascularity strengthen the
clinical diagnosis. 2D echocardiogram with color Doppler
confirms the diagnosis by delineating the anatomy of
pulmonary valve and its typical flow patterns.
Differential Diagnosis
The early diastolic murmur of congenital PR needs to be
differentiated from other cases having an early diastolic
murmur. Pulmonary regurgitation due to pulmonary arterial
hypertension (PAH) of varied etiology and the following
clinical conditions having early diastolic murmur come
under differential diagnosis.
A. The clinical conditions having no cyanosis with early
diastolic murmur:
1. Aortic regurgitation (rheumatic or congenital).
2. VSD with AR.
3. Idiopathic dilatation of pulmonary artery.
4. VSD with absent pulmonary valve.
B. Conditions having cyanosis with early diastolic
murmur:
1. Eisenmenger’s syndrome.
2. TOF with absent pulmonary valve.
3. TOF with AR.
4. Truncus arteriosus with truncal valve regurgitation.
In aortic regurgitation, the characteristics peripheral
signs, typical quality of early diastolic murmur and good
LV force or LVH in ECG differentiates it from pulmonary
regurgitation.
The early diastolic murmur audible due to idiopathic
dilatation of pulmonary artery and primary pulmonary
hypertension can be easily differentiated from congenital
pulmonary regurgitation as mention in the Table 22.2.
COMPLICATIONS
Congestive heart failure and infective endocarditis are
important and dangerous complications.
NATURAL HISTORY AND PROGNOSIS
The patient having isolated congenital PR leads a normal
life. The prognosis depends upon the initial severity,
progression of the regurgitation, and the ability of the right
ventricle to adapt to volume overload. Infants having
significant PR do not tolerate well and may develop severe
CHF. Isolated congenital absence of the pulmonic valve, a
much rarer condition, confers an increased risk of morbidity
and mortality because of more severe regurgitation and
usually warrants pulmonic valve replacement for better
prognosis.
GUIDELINES FOR MANAGEMENT
Medical Management
In late stages when congestive heart failure supervenes,
medical care is necessary with decongestive therapy.
Infective endocarditis prophylaxis should be advised
routinely.
Surgical Management
Replacement of pulmonary valve is indicated when there is
significant right heart failure secondary to long standing
regurgitation. The valve is usually replaced with a bio-
prosthesis valve, although a mechanical valve may be used
if indicated.
 Congenital Pulmonary Regurgitation
TABLE 22.2: Differential diagnosis of common acyanotic causes of pulmonary regurgitation
Congenital pulmonary valve
regurgitation
Peripheral pulse Normal
Blood pressure Normal
Symptoms: Dyspnea Patients are asymptomatic,
Fatigue become symptomatic in late
Weakness stage (due to RV failure)
Angina
Syncope
JVP Usually normal. Raised with
prominent a and v waves with
RV failure
Precordial pulsation RV pulsation present pulmonary
artery pulsation visible and
well felt
Left parasternal heave Hyperdynamic precordium
Second heart sound Not palpable, normal intensity,
S2 widely split.
Ejection click Absent
Third and Fourth heart sound S3 rare appear with RV failure
(right ventricular)
Ejection Systolic Murmur Rough and short ESM
(ESM) less than 3/6
Early Diastolic Murmur (EDM) Short, low pitched,
crescendo decrescendo
mid diastolic murmur
(starts after P2 and
end before S1)
Tricuspid Present in late stage
regurgitation murmur when RV failure occurs
ECG Incomplete RBBB
(rSR pattern) with T-wave
upright in right precordial leads
Radiography Huge MPA. Pulsatile on
fluoroscopy. RV enlargement,
Peripheral vascularity normal.
Echocardiography Absence or deformed
pulmonary valve can be
diagnosed and severity of
PR also ascertained
Idiopathic dilatation of
pulmonary artery
Normal
Normal
Usually asymptomatic
Normal
No RV impulse. Pulmonary
artery pulsation well visible
but not well felt
Not present
Normally heard. Sometimes
P2 loud due to dilated
pulmonary artery
Present
Absent
Short ESM less than 3/6.
No thrill
Short and faint EDM
(because no pressure
gradient), decrescendo
murmur over left upper
and middle sternal border
Rarely present
Normal. Sometimes rSR
pattern present.
No upright T in V1 to V3
Large MPA. Sometimes
aneurysmal, otherwise
normal
Normal pulmonary valves,
dilated pulmonary artery,
low velocity TR and PR
indicating no PAH
211
Pulmonary arterial hypertension
Low volume
Low, low pulse pressure
Symptomatic
a-wave very prominent
RV impulse felt. Pulmonary artery
pulsation better palpable then
visible
Sustained heave is present
Palpable and very loud P2
(ringing quality). Closely split
Very loud, audible up to apex
S4 is common, S3 appear with RV
failure
Short ESM. Less than 3/6
Long, high-pitched, decrescendo
early diastolic murmur
(Graham-Steell murmur)
Usually present
Gross RVH with stain pattern
Prominent MPA with its both
branches. Not pulsatile, loss of
vascularity in peripheral fields (due
to pruning) is very suggestive of
PPH
High velocity PR and TR
spectrum indicates PAH
 212 Clinical Diagnosis of Congenital Heart Disease
SALIENT FEATURES
1. Isolated congenital PR is rare.
2. PR may be due to pulmonary valve defect, annular
defect, absent pulmonary valve or due to severe
pulmonary hypertension. Absent pulmonary valve is
commonly associated with TOF.
3. Isolated PR goes unnoticed, as the patients are
asymptomatic.
4. Early diastolic decrescendo murmur with other features
of PAH indicates PR due to PAH (Graham Steell
murmur).
Idiopathic Dilatation of Pulmonary Trunk
DEFINITION
Dilatation of main pulmonary artery without obvious cause
(Fig. 22.9) is known as idiopathic dilatation of pulmonary
trunk (IDPA).
History
This clinical entity was first recognized by Wessler and
Jaches in 1923.
Etiology
Most probably it is a congenital developmental defect
(abnormal elastic tissue) of pulmonary artery giving rise to
dilatation of main pulmonary artery.
Clinical Features
Symptoms
These patients are usually asymptomatic, often detected
on routine examination due to presence of a murmur or
abnormality in chest X-ray. Some times a visible pulsation
over left second and third sternal border may be the
presenting feature.
5. Loud systolic and diastolic murmur in a setting of TOF
indicates absent pulmonary valve.
6. Infants with absent pulmonary valve are symptomatic
with respiratory distress due to compression of
tracheobronchial tree by dilated branches of pulmonary
arteries. Respiratory infection or RV failure may be
presenting feature in infants.
7. X-ray shows huge dilated MPA and its main branches.
Prominent pulsation is seen on fluoroscopy.
8. Echocardiogram confirms the diagnosis by delineating
the valve status and flow pattern.
BR Mishra
Fig. 22.9: Schematic diagram of idiopathic dilatation of
pulmonary artery. There is pulmonary arterial enlargement
(MPA) in an otherwise normal heart (LA—left atrium,
RA—right atrium, LV—left ventricle, RV—right ventricle,
Ao—aorta)
Signs
On examination pulse is normally felt, wave patterns in JVP
are normal. There is no thrill, a palpable systolic impulse
over left second and third intercostal space may be felt, P2
is palpable (close proximity of dilated pulmonary artery to
 Idiopathic Dilatation of Pulmonary Trunk 213

the chest wall) but no RV impulse. On auscultation first

heart sound is normally heard, second heart sound is
normally split or widely split (not fixed), P 2 is loud,
pulmonary ejection click is always present which increases
with expiration, ejection systolic murmur grade 2-3/6 over
second and third intercostal space is audible due to ejection
of blood to a dilated pulmonary artery. An early or mid
diastolic murmur over left second and third intercostal space
due to PR may be present in some patients.

Electrocardiography
In most of the cases ECG is normal, sometimes rSr in V1
with normal T inversion (no upright T in right precordial
leads) is present depending on age of the patient.

Radiography
Main pulmonary artery is hugely dilated. Right and left
pulmonary arteries are also very prominent. Lung fields
show normal vascularity (Fig. 22.10). Aorta is not
prominent. In straight back syndrome, pulmonary artery
may appear dilated in PA view, but a lateral view showing
loss of normal thoracic kyphosis rules out IDPA.
Echocardiography
2-D echo shows the dilated pulmonary artery. In some
cases the dilatation extends to proximal branches. Pulmonary
valve is normal which excludes post stenotic dilatation of
pulmonary artery. Low velocity TR and PR Doppler
spectrum indicate normal pulmonary arterial pressure.
Therefore excluding other causes of dilatation of pulmonary
artery makes the diagnosis of IDPA.
Diagnosis
Asymptomatic patients with pulsation over left second and
third space, no evidence of RV impulse, P2 loud with
constant ejection click, ejection systolic murmur 2-3/6 over
pulmonary area help the physician to suspect idiopathic
dilatation of pulmonary artery. A normal ECG, dilated
pulmonary artery on X-ray without other abnormalities
reinforces the suspicion. Echocardiography confirms the
diagnosis by excluding other causes of dilatation of
pulmonary artery.
Fig. 22.10: X-ray chest of idiopathic dilatation of pulmonary
artery, there is huge dilatation of pulmonary artery, also the
right descending pulmonary artery is enlarged
Differential Diagnosis
IDPA needs to be differentiated from a mild valvular PS
with post-stenotic dilatation which have similar clinical
presentation, a careful echocardiography easily differentiate
each condition. Dilated pulmonary artery may be a part of
Marfan’s syndrome, which should be confirmed when other
features of this condition are present. In straight back
syndrome and partial absence of pericardium, PA view of
chest X-ray may show a prominent pulmonary artery.
Lateral view showing absence of thoracic kyphosis
confirms straight back syndrome. In partial absence of
pericardium, the prominence over left cardiac border is
due to protrusion of pulmonary artery that is not actually
dilated. It can be confirmed by echocardiography.
Prognosis and Guidelines for Management
It runs a benign course. No specific treatment is required
once the diagnosis is confirmed (other causes of dilatation
of pulmonary artery is ruled out).
Although idiopathic dilatation of trunk is a benign lesion
rarely it may give rise to huge aneurysm formation or
progressive PR which may cause clinical problems.
 214 Clinical Diagnosis of Congenital Heart Disease
Peripheral Pulmonary Artery Stenosis
SYNONYMS
Peripheral pulmonary stenosis/coarctation of pulmonary
artery.
DEFINITION
Constriction of pulmonary artery at any point starting from
its bifurcation to distal peripheral branches is known as
peripheral pulmonary artery stenosis. Under broad heading
it belongs to supravalvular pulmonary stenosis. There may
be single or multiple constrictions on either or both sides.
HISTORY
It was first described by Mangars in 1802 and later
described in detail by Schwalbe in 1909.
EMBRYOLOGY
The proximal part of main pulmonary artery develops from
bulbus cordis, the distal part is derived from common
truncus. 6th branchial arch contributes to proximal
pulmonary arteries whereas peripheral arteries are derived
from post branchial pulmonary venous plexus which have
link with lung buds. Multiple factors are involved in
pathogenesis of narrowing of pulmonary artery. Rubella
virus has been identified as a teratogenic agent to produce
peripheral pulmonary stenosis. Genetic abnormalities are
also responsible for pulmonary artery branch stenosis as
seen in cases of William’s syndrome and Alagille syndrome.
The disease process can involve the systemic vessels besides
the pulmonary vessels as in case of Macaroni syndrome,
where narrowing of ascending aorta is also associated.
INCIDENCE
It occurs in 2 to 3 percent of all congenital heart diseases.
Peripheral pulmonary artery stenosis is associated frequently
with other cardiac lesions like PS, VSD, PDA, TOF, TGA
BR Mishra
and syndromes like Rubella, Williams, Noonan’s and Alagille.
One of the common causes of stenosis of a major pulmo-
nary arterial branch is the sequel of modified Blalock-Taussig
shunt.
PATHOLOGY
Mainly focal or diffuse hypoplasia or combination of both
is responsible for pulmonary artery stenosis at its bifurcation.
There occurs intimal proliferation then thickening and
fibrosis, which lead to narrowing of vessels. The focal form
gives rise to post-stenotic dilatation.
CLASSIFICATION OF PERIPHERAL
PULMONARY ARTERY STENOSIS
The main and popular classification is by Gays. It is primarily
of four types (Gays classification).
Type I: Single stenosis involving main pulmonary trunk or
any of the proximal branch near the bifurcation. It is the
most common type seen in 75 percent of cases (Figs 22.11A
and B).
Type II: Single, bifurcation stenosis involving proximal parts
of both left and right pulmonary arteries (Figs 22.11C
and D).
Type III: Multiple peripheral form, involving the smaller
pulmonary artery branches (Fig. 22.11E).
Type IV: Combination of central (main) and peripheral
branches (Fig. 22.11F).
Multiple pulmonary arterial stenoses are commonly
associated with rubella syndrome, Williams syndrome
(infantile hypercalcemia and supravalvular aortic stenosis)
and Ehlers-Danlos syndrome.
Alagille syndrome is associated mainly with bilateral
pulmonary artery hypoplasia along with hepatic ductal
hypoplasia.
 Peripheral Pulmonary Artery Stenosis
Figs 22.11A and E: Schematic diagram of peripheral
pulmonary arterial stenosis: (A and B) type I, (C and D) type II,
( E) type III, and (F) type IV
HEMODYNAMICS
Significant proximal branch stenosis and multiple peripheral
arterial stenoses act as an obstruction to RV outflow, RV
pressure load depends upon the severity of obstruction. In
most of the cases the obstruction is mild without
hemodynamic burden. But with significant obstruction, RV
systolic pressure rises. Systolic pressure in the pulmonary
artery proximal to stenosis is also raised which behaves as
part of RVOT.
CLINICAL FEATURES
Symptoms
Cases having unilateral or isolated bilateral stenosis which
are mild, usually remain asymptomatic. When bilateral
stenosis is severe, exertional dyspnea and fatigability are
the main presenting features in all age groups. In severe
cases, some infants or young children develop features of
congestive heart failure.
Signs
Pulse, blood pressures are within normal limits. JVP may
show a prominent ‘a’ in significant obstruction. Precordial
pulsation is usually normal. RV impulse and left parasternal
heave are felt when there is severe obstruction. First heart
sound is normal, second sound is widely split with delayed
P2 of normal to increased intensity. Second sound is widely
split despite high pressure in the proximal pulmonary artery
because the pulmonary valve remains open as long as
pressure remains high in RV and proximal pulmonary artery.
215
In multiple peripheral pulmonary stenosis the P2 is loud and
splitting becomes narrow which resemble pulmonary arterial
hypertension. But presence of prominent and widely heard
murmur differentiates peripheral PS from PAH. No ejection
click is present. Systolic murmur of grade 1-3/6 which is
fairly long with maximum intensity around mid systole is
audible over upper sternal border which increases with
inspiration. It is widely heard all over chest wall; particularly
both sides of sternal border and back. Continuous murmur
is uncommon, if present it is audible mainly over both
interscapular areas, indicating pressure gradient is extending
to diastole across the obstruction. Continuous murmur
(3-4/6) over infra clavicular or axillary area if present,
associated PDA should be suspected.
Note: Bilateral peripheral artery stenosis is sometimes
beneficial to the patient in presence of a large left to right
intracardiac shunts (like VSD and ASD), as it reduces the flow
to the pulmonary circuit, thereby prevents pulmonary vascular
disease.
INVESTIGATIONS
Electrocardiography
ECG is like that of valvular PS with right axis, RA enlarge-
ment and RVH. Presence of left axis deviation with counter
clockwise loop indicates association of Noonan’s syndrome
or rubella syndrome.
Radiography
Radiography is not helpful. No post-stenotic dilatation of
MPA is observed as seen in valvular PS. When unilateral
severe stenosis is present particularly with associated large
left to right shunt, lung field on same side shows hypo-
translucency. In severe stenosis RV and RA enlargement
may occur.
Echocardiography
Stenosis of main pulmonary artery and the proximal
branches are well delineated, by suprasternal or parasternal
short axis view. RV hypertrophy without obvious cause if
associated with a pulsatile pulmonary artery gives a clue to
think of peripheral pulmonary artery branch stenosis. Color
Doppler flow imaging indicates flow patterns and pressure
gradient across the stenosis (Fig. 22.12). Pulmonary arterial
stenosis beyond proximal branch is difficult to image.
 216 Clinical Diagnosis of Congenital Heart Disease
Fig. 22.12: Echocardiogram showing narrowing of right
pulmonary artery in short axis (left panel), right panel shows
significant gradient between MPA and RPA by CW Doppler
Magnetic Resonance
Imaging (MRI) and Spiral CT
It is very helpful and superior to echocardiography. It clearly
outlines the anatomy of pulmonary arteries even up to
peripheral branches.
Cardiac Catheterization and
Angiocardiography
Cardiac catheterization and angiocardiography is diagnostic.
Withdrawal tracing from peripheral pulmonary arteries
identify sites of stenosis. Systolic gradient more than 10
mm of Hg between distal and proximal pulmonary arteries
with a normal flow (no left to right shunt) is abnormal.
When valvular PS is associated, a high pressure in the
proximal MPA indicates peripheral PS is severe whereas
mild increase indicates valvular PS is severe. Angio-
cardiography well delineates stenotic lesions of both right
and left pulmonary arteries up to the peripheral level.
Diagnosis
Peripheral pulmonary artery stenosis is commonly
associated with other congenital heart disease, so it is
frequently missed. However in congenital Rubella, Noonan
and Williams syndrome, one should look for peripheral PS.
The main features are a systolic murmur that is widely
heard, second heart sound is widely split and varies normally
with respiration with a normal to loud P2 and no ejection
click is audible. The continuous murmur is uncommon, if
present it is audible over interscapular areas. In this anomaly
echocardiography has its limitation, branch arteries are not
well imaged. Spiral CT, MRI, cardiac catheterization and
angio cardiography, are necessary for final diagnosis.
Complication
The complications are congestive heart failure (mainly RV
failure but rarely occurs), post-stenotic aneurysmal
dilatation, pulmonary thrombosis and hemorrhage.
Natural History
Patients having mild lesions remain asymptomatic from
infancy to late adulthood, however they may develop
infective endarteritis. When the stenosis is severe and
bilateral or associated with other congenital cardiac lesions
or syndromes the prognosis is worse. These patients are
usually symptomatic from early childhood even from
infancy and develop complications early. Most of them die
during early childhood or adolescence.
GUIDELINES FOR MANAGEMENT
Medical management
Infants or children having mild or moderate stenosis need
no specific treatment. Infants having severe peripheral
pulmonary stenosis sometimes develop RV failure. These
patients require relief of obstruction by interventional catheter
procedure or by surgery.
Percutaneous Intervention
The first catheter angioplasty for peripheral pulmonary artery
stenosis was done by Martin in 1980. Percutaneous balloon
angioplasty with intravascular stent (Palmaz-Schatz stent)
implantation are the definite ways of management. Patients
having unilateral or bilateral significant stenosis even if not
symptomatic are also treated by these interventional
procedures. For stenting and dilatation first and second
generation pulmonary artery branches having severe stenosis
are ideal.
Surgical Management
Prior to 1981 surgery was the only way of management.
Surgery (surgical patch anuloplasty) is ideal for Type I lesion
 Peripheral Pulmonary Artery Stenosis
and for long segment narrowing, it includes autologous
pericardium or azygos vein graft and patch arterioplasty
which also gives good result. When balloon angioplasty
cannot be done or not successful surgery may be helpful.
SALIENT FEATURES
1. Peripheral pulmonary stenosis is commonly associated
with Rubella, Noonan’s and Williams syndromes and
other congenital malformations. One-third of cases are
isolated peripheral pulmonary arterial stenosis.
217
2. On auscultation S2 normally or widely split, no ejection
click and ESM 2-3/6 audible widely over precordium
even on the back, clinically arose the suspicion of
peripheral pulmonary artery stenosis.
3. Echocardiography is not helpful because it cannot
delineate distal branches.
4. Spiral CT, MRI, catheterization and angiocardiography
give the diagnosis.
5. Percutaneous balloon angioplasty with stent
implantation and surgical arterioplasty are definitive
forms of management.
23 Congenitally Corrected
Transposition of Great Arteries
Rohit Manojkumar

INTRODUCTION
Congenitally corrected transposition of great arteries (c-
TGA) is an anomaly where there is both atrioventricular
and ventriculo-arterial discordance. Right atrium (RA)
connects to a morphologic left ventricle (LV) and left atrium
(LA) connects to a morphologic right ventricle (RV). Aorta
arises from morphologic RV and pulmonary artery from
morphologic LV (Fig. 23.1). Aorta carries saturated blood
and pulmonary artery carries venous blood, hence normal
physiological circulation is maintained. This anatomical
situation is known as congenitally corrected transposition
of great arteries.

HISTORY
The term congenitally corrected transposition was intro-
duced by Rokitansky in 1875. Anderson described the ana-
tomy of AV node and bundle of His in detail in 1961. The
first surgical repair of corrected TGA was performed by
Lillehei and Lester in 1957.
PREVALENCE
This is a relatively rare congenital heart disease with an
incidence of 1 in 13,000 live births. It accounts for
0.5 percent of all clinically diagnosed congenital malfor-
mations of the heart. It occurs more frequently in males
with a ratio of 1.5:1.
Fig. 23.1: Schematic diagram of c-TGA showing normal visceral
situs, morphologic LV (MLV) on right side from which
pulmonary artery (PA) originates and morphologic RV (MRV)
on left side from which aorta (Ao) originates (RA—right atrium,
LA—left atrium, L—liver, S—stomach, SP—spleen)
and posterior of the morphologic LV. The developing LA
communicates with the morphologic RV, and the develop-
ing RA is in communication with the morphologic LV.
Therefore c-TGA is also known as l-TGA. In addition there
is straight course of the trunco-conal septum instead of
normal spiral course putting the great vessels parallel to
each other.

EMBRYOLOGY
The exact molecular and biological factors, which cause
this malformation, are not clear. In this malformation the
embryonic heart tube bends to the left known as L-
ventricular loop, instead of the normal right ward bend (d-
loop). Hence the morphologic RV comes to lie to the left
PATHOPHYSIOLOGY
In c-TGA blood from morphologic LA enters morphologic
RV through tricuspid valve and then to aorta and systemic
circulation. Similarly, blood from morphologic RA enters
morphologic LV through mitral valve and then to pulmonary
artery and pulmonary circulation.
 Congenitally Corrected Transposition of Great Arteries
The relatively thick walled morphologic RV is exposed
to systemic ventricular pressure and is supplied by
concordant right coronary artery (normal supply). The
ventricular function remains sufficiently good so that a large
proportion of patients with this anomaly maintain an
essentially normal functional status well into adult life.
However, the systemic ventricular (RV) function detoriate
gradually by the end of second or third decade. The hemo-
dynamics of uncomplicated c-TGA is summarized as
follows:
Venous blood from vena cave → RA through mitral
valve→ → morphologic LV → pulmonary artery→ → (tricuspid valve) are common at necropsy (> 90% cases).
pulmonary circulation then saturated blood comes to
pulmonary vein → LA then through tricuspid
valve→ →morphologic RV→ → aorta and to systemic
circulation, therefore the morphologic RV is exposed
to systemic pressure.
The hemodynamics of complicated c-TGA depends
upon the associated anomaly. When left atrioventricular
(AV) valve regurgitation is present, it leads to raised LA
pressure, pulmonary venous pressure and pulmonary wedge
pressure.
ASSOCIATED DEFECTS
c-TGA is commonly associated with other lesions. The
physiologic consequences of c-TGA depend upon these
associated lesions. Ventricular septal defect, pulmonary
stenosis (valvular and subvalvular), abnormalities of the
left AV valve and of the conduction tissues are the common
associated lesions. Rarely c-TGA has no significant asso-
ciated malformations (1%).
ABNORMAL ANATOMY
Situs solitus is seen in most cases (95%). The heart position
may be normal (levocardia) or in the midline (mesocardia),
or in 20 percent cases, the heart is right-sided, with a right-
sided apex (dextrocardia). Aorta arises from RV and its
course is anterior and left to the pulmonary artery. The
pulmonary trunk takes origin from morphologic LV so that
the mitral and pulmonary valve continuity is maintained but
the right AV valve (mitral valve) is separated from aortic
valve by the muscular infundibulum of RV.
About 60 to 70 percent patients have associated
ventricular septal defect (VSD), which is the most
219
common coexisting anomaly. Usually, it is large, sub-
pulmonary and associated with virtually absence of the
membranous septum (perimembranous type). A few cases
are associated with single ventricle.
Pulmonary stenosis (PS) or atresia (obstruction to
outflow of the morphologic left ventricle) occurs in about
50 percent cases of c-TGA. This may be isolated (< 20%
cases) or associated with a VSD (80% cases). Subaortic
obstruction is rare.
Functional abnormalities of atrioventricular valves are
less common, but anatomic abnormalities of left AV valve
There is an age related increase in the incidence of these
abnormalities. Usually there is leaflet dysplasia with abnormal
thickened chordal attachments of septal and posterior leaflets
of the tricuspid valve in the left side. Rarely a true Ebstein’s
anomaly with downward displacement of the origins of the
septal and posterior cusps may be seen. This type of
Ebstein’s anomaly of left AV valve is different in three
aspects: (i) the anterior leaflet is normal in size rather than
large and sail like, (ii) the valve ring is not dilated, and (iii)
the right ventricular sinus is not enlarged. Neonates with c-
TGA and severe atrioventricular valve regurgitation have
an increased incidence of aortic arch anomalies.
Other coexisting structural anomalies include a
supravalvar left atrial ring, which may cause left sided
(tricuspid) inflow obstruction, coarctation of aorta, or left
juxtaposition of the atrial appendages. A patent ductus
arteriosus or atrial septal defect may be seen in 20
percent cases.
Besides the structural anomalies, conduction system is
frequently involved. The risk of developing complete
atrioventricular block (CHB) is approximately 2 percent per
year. The atrial septum is not well aligned with the inlet
ventricular septum; hence AV nodes and His bundle are
abnormally situated. Normal AV node is replaced by an
anomalous anterior AV node. The bundle of His descends
on the anterior aspects of the interventricular septum.
Fibrosis of the bundle of His is responsible for various grades
of atrioventricular block in c-TGA in childhood and
thereafter.
The coronary artery anatomy is appropriate to their
ventricles. So the right-sided left coronary artery with its
left anterior descending and circumflex branches supply
the LV, and the right coronary artery with its conal and
 220 Clinical Diagnosis of Congenital Heart Disease

posterior descending branches supplies the RV. Sometimes in the third and fourth left intercostal space because of
a single coronary artery arises from the right sinus and subpulmonary obstruction. This murmur is relatively soft,
divides into right and left branches. because of the posterior position of RVOT. The left AV
valve regurgitation is associated with a systolic murmur,
CLINICAL FEATURES which radiates to the left sternal edge rather than towards
Patients with no coexisting malformations (uncomplicated the axilla, because the malformed tricuspid leaflets direct
c-TGA) are likely to be overlooked because of no symptoms the jet medially. So that the murmur can sometimes be
and subtle clinical signs. These cases are only diagnosed confused with a VSD murmur.
because of an abnormal X-ray or electrocardiogram.
INVESTIGATIONS
Associated lesions in complicated c-TGA predict clinical
features. Most often, patients present with growth failure Electrocardiography
and exercise intolerance during childhood or early adulthood.
Usually sinus rhythm is present; atrioventricular conduction
It occurs due to left-to-right shunt across VSD. However,
defect is manifested in varying severity from prolonged
because of abnormal position of the subpulmonary left
PR intervals to complete heart block. In about 75 percent
ventricular outflow tract, pulmonary blood flow is
patients 2 to 1 second degree AV block is common. About
restricted. Therefore symptoms related to large pulmonary
30 percent patients have complete heart block. The degree
blood flow are not common in the first year of life. This is
of block may vary from time to time in the same patient
in contrast to the usual large VSD.
and it is progressive.
Mild to moderate cyanosis and effort intolerance may
In the uncomplicated c-TGA, the P wave is normal in
occur due to VSD with pulmonary stenosis. Cyanosis is
configuration and direction. A large VSD or left atrio-
seen in 30 percent patients of c-TGA during infancy. With
ventricular valve regurgitation produce left atrial enlarge-
advancement in age, cyanosis is present in more number
ment. Right atrial enlargement is also seen, when there is
of cases as the subpulmonary outflow tract obstruction
pulmonary hypertension or pulmonary stenosis.
gradually increases. In some adults cyanosis is due to
Presence of small q in V1V2 and absence of q wave in
development of Eisenmenger’s reaction.
V 4-V 6 is characteristic feature of c-TGA because of
The other common clinical feature is bradycardia, which
ventricular inversion causes septal activation to proceed
is seen in 10-30 percent of cases.
from right to left. Left axis deviation is seen in c-TGA but
On examination, slow pulse rate and heart rate
its cause is not clear (Fig. 23.2). It is not due to left anterior
(bradycardia due to 2 to 1 or complete AV block) is a useful
fascicular block which is present in the right side of the
clue to diagnosis. Jugular venous pulse shows a prominent
heart.
“a” wave when there is isolated PS. Sometimes cannon a
Associated anomalies like severe pulmonary stenosis
wave can be observed indicating complete heart block. On
with intact ventricular septum may produce a qR in lead V1
palpation, A2 can be palpable in the left second intercostal
and an rS in lead V6. Nonrestrictive VSD with large left to
space because of an anteriorly placed aorta.
right shunt may produce large biphasic RS complexes in
On auscultation S1 may be diminished due to prolonged
mid precordial leads.
PR interval or may be variable due to complete heart block.
In summary, characteristic ECG findings of c-TGA
Ejection sound is commonly audible due to anteriorly placed
include left axis, q in V 1-2, no q in V 5-6 and varying
dilated aortic root. Second heart sound (A2) is loud due to
degrees of AV block .
anterior aorta placed close to chest wall. P2 is diminished
because of posterior position of the pulmonary trunk so
Radiography
that sometimes S2 appears single. A holosystolic murmur
is audible due to VSD. A middiastolic flow murmur is In a posteroanterior chest X-ray normally upper part of
generated across the left AV valve when the left to right cardiac border is formed by ascending aorta on the right,
shunt is large. The murmur of pulmonary stenosis is maximal the aortic knuckle and pulmonary artery on the left. In
 Congenitally Corrected Transposition of Great Arteries
Fig. 23.2: ECG of c-TGA showing left axis, first degree AV
block (arrow indicates ‘p’ waves) and absence of ‘q’ in V5, V6
Fig. 23.3: X-ray chest of c-TGA, ascending aorta forms the
border at left base (arrow), main pulmonary artery shadow is
not visible on left side (Courtesy: K Sharada, Care Hospital,
Hyderabad)
c-TGA, roentgenographic examination characteristically
reveals absence of the normal pulmonary artery segment
and a smooth convexity of the left supracardiac border
produced by the displaced ascending aorta (Fig. 23.3).
This radiological feature is very characteristicbut present
in about 50 percent of cases. The main pulmonary trunk is
medially displaced and absent from the cardiac silhouette;
the right pulmonary hilus often is prominent and elevated
compared with the left, producing a right-sided “waterfall”
appearance. When an acyanotic patient has high pulmonary
221
arterial blood flow but pulmonary arterial shadow is concave,
there arose suspicion of c-TGA with large ventricular septal
defect. With left AV valve regurgitation, left atrial enlarge-
ment is best seen in the lateral view because; in PA view it
is difficult to differentiate infundibular shadow from left
atrial appendage.
Echocardiography
Echocardiography is diagnostic. Sequential and segmental
analysis in subcostal and four chamber views are important
for clear delineation of all chambers and great vessels. RA
opens to morphologic LV and LA opens to morphologic
RV (Fig. 23.4), RA is identified by insertion of inferior
vena cava and LA is identified by the pulmonary venous
insertion, ventricles are identified by the features given in
Table 23.1. In short axis both great arteries appear as
double circle, aorta being anterior and left to
pulmonary artery. Perimembranous VSD, which is present
very often, is also seen by four-chamber view.
Transesophageal echocardiography delineates the anomalies
clearly in elderly patients.
Fetal echocardiography is useful in prenatal diagnosis
and also detecting the associated anomalies. When severe
AV regurgitation is present, it results in hydrops fetalis and
spontaneous abortion.
Fig. 23.4: Echocardiogram of c-TGA, 4-chamber view shows
discordant atrioventricular relations, right atrium (RA)
communicates to morphologic left ventricle (LV) and left atrium
(LA) communicates to morphologic right ventricle (RV).
TV—tricuspid valve (left AV valve)
 222 Clinical Diagnosis of Congenital Heart Disease

TABLE 23.1: Differentiating features between right and left ventricles

Feature Morphologic left ventricle Morphologic right ventricle

1. AV valve insertion Insertion into the ventricular septum More distal (apical) insertion of it’s AV valve into the
at a level more proximal than that of ventricular septum
opposite AV valve

2. AV valve appearance Bicommissural (mitral) valve with a fish Tricommissural tricuspid AV valve (short axis)
mouth appearance in diastole (short axis)

3. Papillary muscle Paired papillary muscle; chordae tendinea Multiple irregular papillary muscles with chordal
and chordae tendinea that inserts only into the ventricular free wall attachments to the ventricular septum

4. Shape and trabeculation Ovoid or ellipsoid shape with fine apical A crescent shape with coarse apical trabecular
trabecular architecture architecture and a moderator band

5. AV valve and great Fibrous continuity between AV Discontinuities between AV valve and great artery
vessels valve and great artery

Catheterization and Angiography
A complete right and left heart catheterization with imaging
of the coronary arteries is indicated before a definitive
surgery. As the pulmonary artery lies posteriorly and to
right, venous catheter follows a course close to the spine.
Catheters in pulmonary trunk and aorta remain parallel
without crossing each other. Catheter manipulation carries
risk of developing complete AV block. With PS, a gradient
is obtained between pulmonary artery and morphologic LV.
Quantification of shunt, estimation of pulmonary vascular
resistance and severity of AV valve regurgitation are
assessed by hemodynamic study.
Echocardiography and angiocardiography are compli-
mentary to each other. A frontal and lateral ventriculogram,
with 30o right anterior oblique view, profiles the ventricular
septum, the left ventricular outflow tract, and the mitral
inflow. A similar projection can be used for the injection in
the morphologic right ventricle. Injection of contrast into
the pulmonary arteries in AP view with cranial angulations
is done to image pulmonary arterial branches. Aortography
and coronary angiography is done for detection of
associated anomalies.
DIAGNOSIS
Uncomplicated c-TGA
These patients are usually asymptomatic. On examination,
bradycardia, right ventricular impulse and loud and single
S2 (only A2) over second left intercostal space is suggestive.
Presence of left axis, absence of q waves in V5-V6 and
presence of q waves in V1 arose suspicion of c-TGA.
Complicated c-TGA
Infants may be symptomatic with congestive heart failure
(due to VSD or AV regurgitation) or with cyanosis (due to
significant PS). A pansystolic murmur over left third and
fourth space indicates presence of VSD. An ejection systolic
murmur present over left upper sternal border indicates
pulmonary stenosis. ECG features of left axis, q in V1 and
absent q in V5, V6 and AV blocks are very suggestive
findings. Roentgenographic features of absence of normal
pulmonary artery segment and a smooth convexity of the
left supracardiac border produced by displaced ascending
aorta are suggestive, besides right-sided waterfall
appearance over right hilum. 2D echocardiography with
Doppler and finally angiocardiography settles the diagnosis
by delineating the anomalies.
Differential Diagnosis
Isolated c-TGA is confused with isolated congenital AV
block and sometimes with primary pulmonary hypertension.
Complicated c-TGA needs to be differentiated from large
VSD, persistent truncus arteriosus, TOF, TGA and
congenital MR.
 Congenitally Corrected Transposition of Great Arteries
Congenital AV Block
It is diagnosed by slow pulse. Various grades of AV block
in ECG confuse with c-TGA but normal clinical findings
and radiological features help to differentiate it from c-TGA.
Primary Pulmonary Hypertension
As the LV occupies the place of RV, clinically apical impulse
is RV type, anterior aorta makes the A2 loud at the same
time P2 is not heard because of posterior location (away
from chest wall). A loud A2 with masked P2 clinically
appears as single loud P2. Therefore uncomplicated cases
of c-TGA sometimes clinically confuse with primary
pulmonary arterial hypertension (loud and single S2 is
pulmonary). But the characteristic ECG and X-ray findings
of each condition can easily differentiate from one another.
Other clinical conditions like large VSD and severe MR
are difficult to differentiate only on clinical grounds. Presence
of bradycardia, loud single second sound, ECG and X-ray
features are suggestive of c-TGA but echocardiography is
diagnostic.
COMPLICATIONS
Rhythm disturbances (AV blocks), congestive heart failure
and infective endocarditis are common complications.
NATURAL HISTORY
Natural history depends on the presence and severity of
the associated malformations. Survival in uncomplicated
c-TGA is good but not normal. Morphologic RV acts as
the systemic ventricle which ultimately fails. Mortality is
high in infancy if untreated. If the infant survives then
mortality is approximately 1-2 percent per year. In
complicated cases degree of left atrioventricular valve
regurgitation is a major determinant of long-term survival.
Patients with pulmonary stenosis develop symptoms
later, and have a better prognosis than those without
pulmonary stenosis. In a retrospective analysis of 182 cases
of adult c-TGA (a multi-institutional study), 67 percent
patients with associated lesions had congestive heart failure
by the age of 45 years, and only 25 percent of patients
without associated lesions had this complication. Tricuspid
(systemic atrioventricular) valvular regurgitation is strongly
associated with right ventricular dysfunction and congestive
heart failure.
223
In the present surgical era, the 5-year, 10-year and 20-
year actuarial survivals are 92 percent, 91 percent and 75
percent respectively. Presence of AV canal defect, moderate
to severe tricuspid regurgitation and poor right ventricular
function predict poor prognosis.
About 5-10 percent of infants with c-TGA have complete
heart block at birth. This proportion slowly increases to
10-15 percent by adolescence and 30 percent by adult life.
With advancing age, a prolongation of the PR interval is
seen even in those patients with originally normal
conduction. About 40 percent patients with atrioventricular
discordant connection have normal sinus rhythm throughout
their lives.
GUIDELINES FOR MANAGEMENT
Medical Management
Uncomplicated c-TGA needs no specific management.
When congestive heart failure is associated in later life, it
may be treated with anti-failure drugs (Digoxin and
Diuretics) and afterload reducing agents (ACE inhibitors).
If this anomaly is duct dependent (c-TGA, with pulmonary
atresia and intact septum), prostaglandin E1 is required to
keep the duct patent. Permanent pacemaker installation is
needed for complete heart block. Infective endocarditis
prophylaxis is also advised.
Surgical Management
Palliative procedure like pulmonary artery banding is advised
when congestive heart failure is not controlled during
infancy. Various surgical options are described below.
c-TGA Type Surgical options
1. c-TGA, ductus BT shunt
dependent
2. c-TGA, large VSD Closure of VSD with double switch
3. c-TGA, VSD, PS a. Closure of VSD and LV to PA
conduit (generally done after
2-3 years)
b. May be double switch
4. c-TGA with severe Left AV valve surgery (repair/
left LV valve regurgitation replacement)
5. c-TGA with significant Fontan repair
ventricular hypoplasia
and or straddling
224 Clinical Diagnosis of Congenital Heart Disease
SALIENT FEATURES
1. In congenitally corrected transposition of great arteries,
double discordance of atrioventricular and ventriculo-
arterial connections maintain normal circulation. The
morphologic RV giving rise to aorta is exposed to
systemic circulation.
2. c-TGA is commonly associated with VSD, PS, left AV
valve abnormalities and conduction defects. Clinical
manifestations depend upon these associated lesions.
3. Infants with slow pulse and a systolic murmur over
precordium (irrespective of lesion) the physician should
think of c-TGA.
4. ECG findings of left axis deviation, q in V1, V2 , no q in
V 5-6 and varying degrees of AV block are very
suggestive. Neither great arteries are border forming
on X-ray chest.
5. Acyanotic patient with increased pulmonary vascularity
and concave pulmonary arterial shadow, one should
think of c-TGA associated wit large VSD.
6. Echo evidences of RA opening to morphologic LV, LA
opening to morphologic RV and double circle appear-
ance of great arteries (aorta anterior and left) are
characteristic findings.
7. Catheterization and angiography are essential because
coronary artery anatomy should be well visualized
before surgery.
24 Common Atrium

M Satpathy

SYNONYMS
Single atrium/Cor. Triloculae—Biventricularis.

DEFINITION
Common atrium is characterized by complete absence of
atrial septum with two normally located atrial appendages.

EMBRYOLOGY
The normal inter atrial septum formation of the common
atrium occurs mainly between 20 to 34 days of intra uterine
life. The septum primum starts developing from portion
(cranial aspect) of primitive atrium and gradually fuses with
endocardial cushion. Similarly another septum known as
septum secundum develops from posterior aspect of the
common atrium. When there is growth arrest of these two
septum from both sides no interatrial septum is formed Fig. 24.1: Schematic diagram showing common atrium (CA).
which gives rise to the anomaly that is known as common There is no partition between two atria, superior vena cava
(SVC), inferior venacava (IVC) and coronary sinus (CS) drain
atrium in postnatal life.
to the right side and pulmonary veins (PV) drain to the left side
of common atrium. Both AV valves remain at same level (LV—
INCIDENCE left ventricle, RV—right ventricle, LAA—left atrial appendage)
It is a rare isolated congenital heart disease. Usually it is
associated with other congenital anomalies like complete undefined or bilaterally symmetrical common atria seen in
AV canal defect, polysplenia syndrome, isolated visceral heterotaxy syndromes. There are two separate
dextrocardia, Ellis-Van-Creveld syndrome and persistent atrioventricular orifices, with mitral valve on left side and
left superior vena cava. tricuspid valve on right side. Frequently there is cleft mitral
valve, which is responsible for mitral regurgitation of
ABNORMAL ANATOMY varying severities.
Although there is one atrium, there are two normally situated
HEMODYNAMICS
atrial appendages, SVC, IVC and coronary sinus open into
right side and pulmonary veins into left side of the common The hemodynamic picture resembles that of a large ASD,
atrium (Fig. 24.1). The left side of the common atrium with neonatal regression of pulmonary vascular resistance
morphologically resembles left atrium and right side and decrease in RV compliance, flow through tricuspid
resembles right atrium, which differentiates it from valve increases resulting in right ventricular volume overload
 228 Clinical Diagnosis of Congenital Heart Disease

and large pulmonary flow. There occurs RV dilatation,

enlargement of main and branch pulmonary arteries. Due
to complete absence of interatrial septum, mixing of
systemic and pulmonary venous return occur in the
common atrium resulting in systemic desaturation and
cyanosis. High pulmonary flow and RV volume overload
often leads to heart failure. Gradually pulmonary vascular
resistance increases, pulmonary flow is reduced giving rise
to more systemic desaturation and deepening cyanosis.

CLINICAL FEATURES
Symptoms Fig. 24.2: ECG of common atrium showing left axis deviation
These patients are symptomatic from early infancy in the and incomplete right bundle branch block

form of tachypnea, tachycardia and feeding difficulty due

precordial leads is usually greater than that seen in isolated
to heart failure. If they survive the crisis subsequently
ASD. Low atrial focus (superior P axis) is occasionally
develop repeated respiratory infections, easy fatigability and
seen. I1 degree AV block is frequently present.
have retarded growth. Some cases develop less respiratory
infections but cyanosis become more prominent due to onset Radiography
of pulmonary vascular disease.
X-ray picture resembles that of large ostium secundum
Signs type of ASD. Cardiac silhouette is enlarged. Right border
Presence of cyanosis is clinically important. It varies from convexity is increased, indicating enlarged right atrium. Main
mild to moderate degree. Cardiomegaly with LV apex is pulmonary artery and its branches are dilated with plethoric
common finding due to associated mitral regurgitation. In lung fields (Fig. 24.3). Right ventricular enlargement is also
severely symptomatic infants signs of congestive heart noticed in left anterior oblique position.
failure are present. On palpation left parasternal heave and
hyperdynamic precordium are well left. First heart sound
is loud, second heart sound is widely split and fixed, left
ventricular S3 over apex is audible (due to MR). Ejection
systolic murmur grade 2–3/6 over upper left sternal border
(produced at RVOT due to increased flow) and pansystolic
murmur over apex conducted towards sternal border
indicating presence of mitral regurgitation are audible. When
a harsh systolic murmur grade 3–5/6 is present with a
thrill over pulmonary area it indicates presence of
associated pulmonary stenosis.

INVESTIGATIONS
Electrocardiography
Electrocardiographic features resemble that seen in ostium
primum ASD. Left axis (–30 to –135) deviation, counter-
clockwise QRS loop, rsR’ or rR’ in right precordial leads, Fig. 24.3: X-ray chest of common atrium showing cardiomegaly,
tall and broad P in lead II, avF (RA enlargement) are RA enlargement, dilated main pulmonary artery and plethoric
important findings (Fig. 24.2). R-wave height in right lung fields (Courtesy: Dr P Pati, CMC, Vellore)
 Common Atrium 229

Echocardiography
2D echo with color Doppler helps in final diagnosis. Mainly
in subcostal four chamber view the atrial septum is not at
all visualized (Fig. 24.4). Sometimes abnormal muscle bands
give false impression of atrial septum, for which careful
imaging at different planes is necessary. Right-sided volume
overload is seen. Other features of common atrium are
intact interventricular septum; both AV valves at same level,
cleft mitral leaflets and presence of mitral regurgitation (due
to partial AV canal defect that is a part of this anomaly) are
present.

CARDIAC CATHETERIZATION AND

ANGIOGRAPHY
Oxygen saturation of RV and pulmonary artery are almost
same as LV and aorta (maximum 1-2% difference). Oxygen
step up above 5 percent in atrial chamber than SVC is an
important finding in single atrium. Pulmonary flow is more
than systemic until pulmonary vascular disease sets in. Right
ventricular and pulmonary arterial pressures are usually more
as compared to cases of large ASD secundum.
Angiogram shows a large globular single atrial chamber.
LV angio shows sometimes typical goose neck deformity
as seen in endocardial cushion defects and presence of
mitral regurgitation.
DIAGNOSIS
All these cases are cyanotic and symptomatic from infancy;
if survive they grow with retarded growth. Clinical features
(LV-apex, S2 wide and fixed split, ESM 2-3/6 over LPSB
and MR murmur) and ECG findings resemble ostium
primum defect. It is 2D echo and Doppler confirms the
diagnosis. Cardiac catheterization indicates nearly equal
oxygen saturation in all chambers and selective angiography
is confirmatory.
DIFFERENTIAL DIAGNOSIS
Conditions having cyanosis with increased pulmonary flow
come as differential diagnosis. They are commonly TAPVC,
TGA and Taussig Bing anomaly. Presence of mitral
regurgitation, left axis deviation with counter clockwise
depolarization in ECG differentiates it from TAPVC and
TGA where right axis is present. Endocardial cushion defect
clinically closely simulate with common atrium because
developmentally they belong to one group. It is 2D echo
with color Doppler mapping that differentiate these two
Fig. 24.4: Echocardiogram of common atrium. Apical 4-chamber
view shows single large atrium (CA), both AV valves are at the
same level. LV—left ventricle, RV—right ventricle (Courtesy:
Dr SS Mishra, Cuttack)
conditions very accurately. When cyanosis is minimal or
not apparent it is difficult on clinical grounds to differentiate
common atrium from large ostium primum ASD.
GUIDELINES FOR MANAGEMENT
Respiratory infections and heart failure in infancy are
managed with antibiotics and anti failure drugs (digoxin
and diuretics). Surgical repair is the definite treatment and
should be done early before pulmonary vascular disease
appears. An artificial atrial septum consisting of a prosthetic
material, polyvinyl septum is sutured. Care is taken to avoid
injury to conduction system and to tricuspid or mitral valves.
SALIENT FEATURES
1. In common atrium there is only one atrium but there are
two normally situated atrial appendages. Right side
resembles RA with SVC and IVC connections. Left side
resembles LA with pulmonary veins.
2. Infants are cyanotic and symptomatic. CHF may be
present. Ellis-Van-Creveld syndrome is often
associated.
3. Common atrium is one of the possibilities when
cyanosis is present in setting of large ASD and ECG is
like that of ASD primum (left axis with counterclockwise
loop, incomplete RBBB pattern and sometimes first
degree AV block)
4. Echocardiography confirms the diagnosis by absence
of atrial septum with two AV valves and intact
interventricular septum and MR if present.
5. Early surgery is advised.
 25 Tricuspid Atresia
DEFINITION
Tricuspid atresia (TA) is defined as agenesis (complete
absence) of the morphologic tricuspid valve including inlet
portion of right ventricle; with the result that there is no
communication between morphologic right atrium and right
ventricle.
HISTORY
Kreysing first described this anomaly as complete
obstruction of the right atrioventricular valvular orifice in
1817. The nomenclature “tricuspid atresia” was given by
Schuberg in 1861. Tricuspid atresia was first classified on
the basis of pulmonary blood flow by Kuhne in 1906. The
most popular classification of tricuspid atresia, which is a
refinement of the above classification, goes by the name of
Edwards and Burchell (1949). Tricuspid atresia was
successfully repaired by Fontan in 1971.
INCIDENCE
The prevalence rate is 0.06 per 1000 live birth and the inci-
dence is about 1-2.4 percent of all congenital heart disease.
In Indian experience it is 0.4 percent of all adult congenital
heart diseases. No definite sex distribution is observed, but
when TGA is associated; it is male sex dominant. There is
no specific etiological factor which is responsible; however
ingestion of thalidomide was blamed in the past.
EMBRYOLOGY
The exact embryologic disturbance responsible for this
defect is not known. In fourth or fifth week of intrauterine
life, the abnormal development of atrioventricular canal,
particularly failure of migration of the atrioventricular orifice
to enter either ventricles and early fusion of endocardial
cushion on right side gives rise to tricuspid atresia.
SR Mittal
CLASSIFICATION
The tricuspid atresia has been classified in various ways by
different authors at different times. The following classifi-
cations are important from clinical point of view.
Edward and Burchell Classification (in 1949)
1. They classified TA into 3 types, as per relationship of
great vessels.
i. TA with normally related great arteries
ii. TA with d-transposed great arteries
iii. TA with l-transposed great arteries
2. Clinical classification of tricuspid atresia by Gasul
Group I: Tricuspid Atresia with diminished or normal
pulmonary blood flow
A. Without transposition of the great vessels
1. With pulmonary atresia.
2. With subpulmonary or pulmonary stenosis.
3. Without pulmonary stenosis.
B. With transposition of the great vessels
1. With pulmonary atresia.
2. With pulmonary stenosis.
Group II: Tricuspid Atresia with excessive pulmonary
blood flow.
A. With transposition of the great vessels and without
pulmonary stenosis.
B. Without transposition of the great vessels and with
aortic stenosis or atresia.
3.Tandon and Edward classification: This classification was
again amplified by Keith to include all the eight sub-
types, according to presence or absence of VSD and
of pulmonary stenosis or atresia.
Type I : TA with normally related great arteries. Majority
of cases (70-80%) belong to this group. This group is
further subdivided depending on presence of:
 Tricuspid Atresia 231

a Pulmonary atresia with no VSD (Fig. 25.1A).
b Pulmonary stenosis with restrictive VSD (the most
common type) (Fig. 25.1B)
c No pulmonary stenosis with large VSD (Fig. 25.1C).
Type II: TA with d-transposition of the great arteries. It
occurs in about (12-25%) of cases. This group is mainly
associated with other anomalies like coarctation of aorta,
interruption of aortic arch, persistent left SVC, and juxta-
position of atrial appendages. This group is further
subdivided depending on presence of:
a. Pulmonary atresia with VSD (Fig. 25.2A).
b. Pulmonary stenosis with VSD (Fig. 25.2B).
c. No pulmonary stenosis with large VSD (The second
most common type) (Fig. 25.2C).
Type III : TA with l-transposition of great arteries. It is
very uncommon and occurs only in about 3-6 percent of
cases. This group is further subdivided depending on pre-
sence of:
a. Pulmonary stenosis.
b. Subaortic stenosis.
Tricuspid valve atresia is also classified into 5 types
(Neimberg Classification) according to the nature of tissue
between right atrium and underdeveloped right ventricle.
They are:
Type A-Muscular atresia—Commonest type, the floor of
right atrium is muscular,
Type B—Membranous atresia. Floor is formed by
membranous tissue,
Type C—Valvular atresia—Tiny imperforate valvular type
of structure forms the floor,
Type D—Ebstein’s form. The valvular tissues are attached
to RV forming atrialised right ventricle and
Type E—Common atrioventricular canal with the valve seal-
ing the right ventricular entrance. It is extremely rare type.
PATHOLOGY
The consistent pathological features, which are present in
all cases, are: (a) Imperforate tricuspid valve (that is RA
has muscular floor) with dilatation of right atrium.
(b) Varying degrees of hypoplasia of right ventricle with or
without papillary muscles. (c) Inter atrial communication

Figs 25.1A to C: Schematic diagrams showing Type-I tricuspid atresia. (A) Pulmonary atresia with no VSD, (B) pulmonary
stenosis with restrictive VSD, and (C) no pulmonary stenosis with large VSD. Arrows point to direction of blood flow (LA—left
atrium, RA—right atrium, LV—left ventricle, RV—right ventricle, Ao—aorta, PA—pulmonary artery)

Figs 25.2A to C: Schematic diagrams showing Type-II tricuspid atresia: (A) pulmonary atresia with VSD, (B) pulmonary stenosis
with VSD, and (C) No pulmonary stenosis with large VSD. Arrows point to direction of blood flow (LA—left atrium, RA—right
atrium, LV—left ventricle, RV—right ventricle, Ao—aorta, PA—pulmonary artery)
 232 Clinical Diagnosis of Congenital Heart Disease
either as ostium secundum ASD (in 25% cases) or as patent
foramen ovale (in 75% cases). (d) Communication between
systemic and pulmonary circulation via VSD which may
be restrictive (Perimembranous or muscular or
malalignment types) or non restrictive and uncommonly a
small PDA is present which closes in schedule time.
The variable pathological features are:
a. Ventriculo-arterial relation: It is normal in 90 percent
cases. In these cases atrial situs is solitus, SVC and
IVC are normally connected and coronary sinus opens
to RA. d-transposition is present in remaining 10 percent.
When d-transposition is present, persistent left superior
vena cava, coarctation of aorta and juxtaposition of atrial
appendages are commonly associated.
b. Pulmonary flow: Obstruction to pulmonary flow, which
may be subvalvular and/or valvular.
Main conduction abnormalities are: (i) bundle of His is
located posteriorly and is of very short length, and (ii) AV
node is located in region of Todaro’s tendon.
HEMODYNAMICS
Figs 25.3A and B: Flow diagram showing (A) Normal
cardiac flow pattern, (B) Flow pattern in tricuspid atresia
Figs 25.4A and B: Flow diagram showing: (A) Normal cardiac flow pattern and
(B) Intracardiac flow in commonest type (Ib) of tricuspid atresia
Figures 25.3A and 25.4A show normal cardiac flow
patterns. Figure 25.3B shows flow pattern of tricuspid
atresia up to left ventricle. Subsequently blood flow from
LV onwards depends on: (a) relation of great arteries with
LV, (b) presence of VSD or PDA, and (c) presence of
pulmonary stenosis or atresia. Interatrial communication
(small or large) is obligatory and ventricular septal
defect is the rule rather than exception for tricuspid
atresia.
The commonest type of tricuspid atresia is Type-I
(b) of Tandon and Edwards classification, where there is
restrictive VSD and pulmonary stenosis with normally
related great arteries.
In this situation LV cavity has two outlets. A portion of
mixed venous blood from LV passes through VSD to
hypoplastic RV and PA (through stenosed pulmonary valve)
to pulmonary circuit. When pulmonary stenosis is severe,
less amount of blood goes to pulmonary circuit for
saturation, so pulmonary venous return to LA is less. In
other words LA and LV contain more unsaturated blood,
which goes to systemic circulation, therefore cyanosis is
present from very birth. The alternative route for saturation
is through PDA. So long as PDA is patent more
saturated blood comes to systemic circulation and there
is hemodynamic stability, but once it is closed, the infant
develops deep cyanosis and hypoxemia. LV in all these
situations, practically behaves as a single ventricle as RV is
under developed and pulmonary stenosis or atresia is
present. RA, LA, LV and aorta are all enlarged. LV is volume
overloaded, that too with unsaturated blood for a long time.
This later on leads to left ventricular failure and congestive
heart failure.
 Tricuspid Atresia
Fig. 25.5: Intracardiac flow in second most common type
(Type IIc) of Tricuspid atresia
In the situation of tricuspid atresia with large VSD and
no pulmonary stenosis (Type IC), adequate amount of blood
flows to PA. Therefore, besides RA, LA and LV, the RV
and PA are also well developed. Increased pulmonary flow
gives rise to increased systemic saturation. This type of
anomaly is clinically rarely seen.
In case of tricuspid atresia with d-transposition of great
arteries with nonrestrictive VSD and no pulmonary stenosis:
Type IIC (Fig. 25.5) (second most common type).
Pulmonary flow is adequate with the result RA, LA and LV
and PA are enlarged. RV is well developed but aorta is
normal, not prominent.
CLINICAL MANIFESTATIONS
Symptoms
Most of the patients with diminished pulmonary flow (due
to restrictive VSD and/or pulmonary stenosis or atresia)
manifest with intense cyanosis at birth. Presence of cyanotic
spells supports the possibility of pulmonic stenosis over
pulmonary atresia. Some of these cases may have mild
cyanosis at birth due to reasonable pulmonary flow through
patent ductus. However, they suddenly become sympto-
matic and develop deep cyanosis when the ductus closes
resulting in acute reduction in pulmonary flow. Patients of
tricuspid atresia with nonrestrictive VSD and no pulmonic
stenosis, may have increased pulmonary flow, when the
pulmonary vascular resistance decreases in normal course
after 2-3 weeks of birth. Increased pulmonary flow results
in better oxygenation of blood but causes volume overload
233
of left ventricle like a classical isolated nonrestrictive VSD.
Such infants have mild or minimal cyanosis but manifest
with progressive dyspnoea, feeding difficulty and recurrent
lower respiratory tract infections. When CHF persists and
also florid, associated coarctation is suspected.
Signs
Tricuspid Atresia with Pulmonary
Stenosis and Restrictive VSD (Type Ib)
The infants develop cyanosis in the neonatal period. The
degree of cyanosis varies according to the magnitude of
blood flow to the pulmonary circuit. Clubbing may occur
in infants who survive beyond five months of age. The
pulse is of normal volume and apical impulse is localized
(LV type). RV impulse is not palpable over lower sternal
border, which is normally present in all infants. In infants
with cyanosis and no RV impulse clinically one should
strongly suspect tricuspid atresia. Raised JVP, with
prominent a-wave, indicating increased RA pressure is
difficult to appreciate in infants, because of short neck and
presence of pad of fat over it. First heart sounds is single
(no tricuspid component) and may be increased in intensity,
second sound is single and loud, (only A2). Systolic thrill is
very uncommon. In most of the cases an ejection systolic
murmur 2-3/6 (in a few cases pansystolic murmur) due to
VSD is audible over left sternal border. Another ejection
systolic murmur over upper sternal border is also heard
(due to pulmonary stenosis).
Tricuspid Atresia with Pulmonary
Atresia and no VSD (Type I a)
Infants are born with cyanosis. Some infants develop severe
cyanosis giving rise to hyperventilation and acidemia in the
first week of birth. Others may remain quiet in neonatal
period with mild to moderate cyanosis. The clinical course
of these infants mainly depends on the size and rate of
closure of PDA. Some infants while doing well, suddenly
develop intense cyanosis and become dyspneic followed
by loss of consciousness. This clinical situation arises due
to rapid closure of PDA. Such deepening cyanosis with
clinical deterioration needs immediate attention. Intravenous
prostaglandin E1 infusion is needed to keep the duct patent
till surgical intervention. Interestingly hypercyanotic spells
are not encountered in this anomaly (as there is no
 234 Clinical Diagnosis of Congenital Heart Disease
infundibular spasm). In most of these infants survival after
one year is unusual. The growth is retarded. JVP is raised
with prominent a-wave. In a cyanotic infant, when pulse is
well-felt or high volume, it indicates presence of PDA. Apex
is LV type. Absence of lower sternal border impulse
indicates absence of RV dominance. First heart sound is
single and may be loud (only M1). Second sound is also
single and loud (No P2). Majority of patients have continuous
murmur which is audible over upper sternal border and
infra clavicular area (grade 2-3/6, due to PDA or systemic
arterial collaterals). In some patients a short systolic murmur
is heard (due to small PDA) and in another small group of
patients, no murmur is audible (due to closing PDA). In
this situation, if at all the patient survives, it is due to
bronchial-collaterals.
Tricuspid Atresia with Large VSD and No
Pulmonary Stenosis (Type I c)
Some infants remain asymptomatic with mild cyanosis, till
they become symptomatic after 6 to 8 weeks of birth, with
breathlessness, feeding difficulty and excessive diaphoresis.
All these symptoms indicate increased pulmonary blood
flow due to progressive decrease in pulmonary vascular
resistance (PVR). Another group of infants become
symptomatic from very early neonatal period because of
excessive pulmonary blood flow from beginning, (PVR
rapidly decreased). Ultimately most of the infants, by 2 to
3 months of age, develop left ventricular failure and
subsequently CHF. Pulse is normally felt. The apex is LV
type. There is no RV impulse (RV just provides a passage
for blood to reach pulmonary circuit). Systolic thrill is
palpable over upper left sternal border (due to VSD). JVP
is raised with prominent ‘a’ and ‘v’ waves, but very difficult
to observe, in these sick infants. First heart sound is single,
second sound is normally split. LV third heart sound is
audible. A pansystolic murmur is audible all over precordium
(VSD murmur).
Those infants who survive the crisis of severe CHF,
gradually grow to childhood and adolescent age, with
delayed milestones of development. They remain relatively
asymptomatic for some years till they develop symptoms
like easy fatigability, exercise intolerance and signs of
pulmonary hypertension, which indicate commencement
of significant pulmonary hypertension due to increased
pulmonary vascular resistance and pulmonary vascular
disease.
Tricuspid Atresia with d-Transposition of Great
Arteries with Large VSD and No PS (Type II c)
The infants are symptomatic from birth. They develop
tachypnea, feeding difficulty and tachycardia indicating CHF
in infancy. Cyanosis is minimal or absent, appears while
coughing or any form of straining. Some infants develop
sub-aortic obstruction. This results in decreased flow in
aorta and increased blood flow in pulmonary circuit. Such
infants develop severe heart failure. Frequent, respiratory
tract infections and poor weight gain are common features
of this entity. Apex is LV type and forceful. Oedema is
present over extremities and face. Peripheral pulses are
diminished in volume and periphery is cold. Pulsations over
lower limbs are diminished or absent and the lower extremity
is cooler if there is additional coarctation of aorta.
Hepatomegaly is present. First heart sound is normal, second
sound is loud and single (only A2, as aorta is anterior).
Sometimes S2 may be normally spilt. LV S3 is heard over
apex. Ejection click is audible in a good number of cases. A
short ejection systolic murmur is audible all over chest wall
(RV outflow murmur). This systolic murmur is neither loud
nor pansystolic, unlike isolated VSD murmur. This is
because in this situation the VSD is large and the pressure
in both ventricles is equal (by definition no PS). A mid-
diastolic murmur may be audible over apex, due to increased
flow through normal mitral valve.
INVESTIGATIONS
Electrocardiography
Tall and peaked P wave (p-congenital) is present in leads
II, III, avF and V1, indicating RA enlargement. Some cases
may show bifid or negative P in V1, (also in II, avL, avF)
which indicates LA enlargement. QRS axis shows left axis
deviation (usually – 45° to –90°). rS configuration in lead
V1 and qR configuration in leads V5 and V6 indicate LV
preponderance (Fig. 25.6). Right precordial leads do not
show RV forces. T wave inversion in V5, V6 is seen in
some older cases. These above ECG changes are mainly
seen in Type I (b) which is the commonest type. In some
 Tricuspid Atresia
Fig. 25.6: Electrocardiogram of a patient of tricuapid atresia
showing P-Congenital (RAE) left axis deviation and qR
configuration in leads I, avL, V5, and V6 with rS in V1.
cases P-R interval is short (Type II variety), besides tall P
in II, III, avF and QRS axis within normal range. In a very
few cases of Type II (c) and Type III (b) the QRS axis
may be towards right (0 to +90°).
Radiography
The cardiac size depends on the type of tricuspid atresia.
In patients belonging to decreased pulmonary flow (types
Ia, b and II a, b), the cardiac silhouette is within normal
limit. Most of the patients belong to this group. Patients
having high pulmonary flow (Type Ic, IIc and IIIb) usually
develop cardiomegaly. The cardiac shape is variable
depending on chambers enlarged.
A bulge on middle part of the right side (RA
enlargement), convex left lower border (LV enlargement),
concavity over MPA segment (MPA not well developed) in
PA view of chest give the appearance of globular shape
(Fig. 25.7). Pulmonary oligemia is present in 80 percent of
cases and ascending aorta is prominent mainly in Type I
(b). Right side aortic arch is present in about 5-8 percent
of cases. In a few cases of Type I (b) and Type II (b)
radiological picture of heart looks like Coeur-en-Sabot
appearance (as seen in TOF), because the apex (LV Type)
is less blunt and higher up with concavity of left middle
segment (MPA not developed) and convex right border
(RA enlargement). Cardiomegaly with RA and LV
enlargement, MPA not prominent, but presence of
pulmonary plethora and inconspicuous aortic shadow
(narrow vascular pedicle), are features of tricuspid atresia
Type II (c) variety.
Echocardiography
Tricuspid atresia can be diagnosed even by fetal
echocardiography. The intracardiac anatomy is very well
defined by the cross-sectional or spectral Doppler
235
Fig. 25.7: X-ray chest of tricuspid atresia showing prominent
right atrium (thin black arrow), concavity over MPA segment
(thick white arrow), prominent ascending aorta (thick black
arrow) and pulmonary oligemia (Courtesy: Dr PK Pati, CMC,
Vellore)
echocardiographic study. The diagnosis of various types
of tricuspid atresia and associated anomalies are well
delineated.
The dominant and the rudimentary ventricle are well
identified by subcostal or apical short or long axis view.
The diagnostic echocardiographic features are absence
of any communication between RA and RV (echo
densed band) and absence of any flow from RA to RV
(Fig. 25.8) on Doppler evaluation. Other relevant
informations like size of RA, size of interatrial communi-
cation, mitral valve status, LV function, size of VSD, size
of hypoplastic RV, relation of great arteries and site and
severity of pulmonary stenosis are visualized. Echocardio-
gram has its limitations (a) it cannot differentiate severe PS
from pulmonary atresia, (b) distal pulmonary arteries are
not seen, (c) pulmonary vascular resistance cannot be
assessed. Transesophageal echocardiography does not
provide any additional information, however, associated
anomalies like coarctation of aorta, aortic stenosis, inter-
rupted aortic arch and persistent left SVC are easily
visualized.
Cardiac Catheterization and Angiography
Although 2D echocardiography with Doppler imaging gives
the diagnosis of tricuspid atresia but cardiac catheterization
is necessary before any surgical intervention. The exact
 236 Clinical Diagnosis of Congenital Heart Disease
Fig. 25.8: Echocardiogram of tricuspid atresia. Apical 4
chambers view shows a dense band (large arrow) in place of
tricuspid valve, restrictive VSD (small arrow) and under-
developed right ventricle (Courtesy: Dr PK Dash, SSSIHMS,
Bangalore)
size of interatrial communication (PFO or ASD secundum)
is to be assessed before atrial septostomy when necessary.
The size of MPA and branch pulmonary arteries and
pulmonary arterial pressure are to be evaluated by cathe-
terization and angiography before pulmonary artery banding
or any surgical intervention (systemic to pulmonary artery
shunt or Fontan procedure). The exact pulmonary artery
pressure and PVR are to be assessed carefully before
surgery, as increased PVR precludes surgery. The
catheter when passed from femoral approach goes to RA,
to LA through atrial septal defect or patent foramen ovale
(cannot enter into RV), then into LV or pulmonary veins.
In infants a balloon catheter is preferred which easily floats
from LA to LV and into pulmonary arteries in absence of
pulmonary stenosis. The RA pressure is always elevated to
around mean 5 to 15 mm Hg. It may go as high as 40 mm
Hg. The RV and PA pressures are low, except in cases
with increased pulmonary flow (Types Ic and Type IIc).
In some cases with nonrestrictive VSD, LV and RV
pressures are equal but mostly LV pressure is higher than
RV (because RV is ill developed). The oxygen saturation is
almost equal in RA, LA, LV, RV and great vessels when
there is large atrial septal defect. The degree of arterial
saturation is related to severity of pulmonary stenosis.
The RA angiography does not opacify RV. Early filling
and opacification of coronary sinus confuses with hypo-
plastic RV. LV angio in anteroposterior view gives infor-
mation about LV function, size and location of VSD, size
of RV, type and severity of pulmonary stenosis or pulmo-
nary atresia, relation of great arteries and morphology of
distal pulmonary arteries. Pulmonary vascular resistance is
calculated, if the catheter is passed into pulmonary artery
(very difficult in tricuspid atresia). It is by selective LV or
RV angiography that the morphology of pulmonary arteries
and associated lesions (mainly accompanied with d-trans-
position- Type II variety of tricuspid atresia) are well studied.
Besides these findings angiography is important to exclude
the presence of persistent left superior vena cava, presence
or absence of subaortic obstruction or narrowing of aortic
isthmus before surgery like Glenn or Fontan procedure.
MRI
Magnetic resonance imaging has some definite role in
imaging pulmonary artery and its branches particularly after
Fontan reconstructive surgery and no doubt is superior to
echocardiography.
DIAGNOSIS
Most of the infants are symptomatic from early infancy,
present with cyanosis and some with congestive heart
failure. On clinical examination LV apex, no RV activity,
second heart sound loud and single, ejection systolic murmur
over left sternal border, on ECG left axis deviation and
absence of RV force in precordial leads with left ventricular
hypertrophy, are important features which strongly suggest
tricuspid atresia. The diagnosis is confirmed by 2-D with
color Doppler echocardiogram and in some cases by cardiac
catheterization and angiography.
DIFFERENTIAL DIAGNOSIS
The differential diagnosis is considered between two main
presentations of these cases, those who present predomi-
nantly with cyanosis and the other group who present mainly
with congestive heart failure in infancy.
Group A—(Infants Manifesting with Cyanosis
without Congestive Heart Failure)
Tricuspid atresia has to be differentiated from other
conditions having cyanosis from infancy. These lesions are:
 Tricuspid Atresia
(a) Fallots tetralogy (TOF), (b) TOF with pulmonary atresia,
(c) Double outlet right ventricle (DORV) with pulmonary
stenosis (PS), (d) Single ventricle with PS and (e) D-
transposition with PS.
All these above clinical conditions although have
common features of cyanosis from infancy, they can be
easily differentiated because they have mainly signs of right
ventricular dominance like RV impulse, right axis deviation
and RVH. Whereas left ventricular dominance (left axis
and LVH) is the hallmark of tricuspid atresia. Only in single
ventricle of LV type it is difficult to differentiate clinically
without echocardiographic or angiocardiographic help.
Differential diagnosis of neonatal cyanosis is given in Figure
25.9
Group B-Infants manifesting with congestive heart failure
(CHF) with minimal cyanosis
The following clinical entities come in differential
diagnosis. Large VSD, complete endocardial cushion defect,
congenitally corrected transposition of great arteries with
large VSD, single ventricle with increased pulmonary flow,
DORV with no PS, truncus arteriosus and complete TGA
with nonrestrictive VSD.
Fig. 25.9: Flow diagram showing differential diagnosis of neonatal cyanosis
237
All these above clinical conditions have common features
of congestive heart failure in infancy. But presence of
biventricular or predominantly right ventricular enlargement
easily differentiates these conditions from tricuspid atresia
in which there is no RV dominance. It is echocardiography
with color Doppler imaging and sometimes angiography
that help in final diagnosis.
The differential diagnosis of CHF in infancy with minimal
or no cyanosis and a long systolic murmur are given in
Figure 25.10.
COMPLICATIONS
The complications are (a) severe congestive heart failure,
(b) repeated chest infections, (c) hypoxic spells, (d) brain
abscess, (e) embolic phenomena including paradoxical
embolism, (f) intravascular thrombosis and (g) infective
endocarditis in older patients.
NATURAL HISTORY
The natural history of survival of patients of tricuspid atresia
mainly depends on the type of lesions and on early medical
 238 Clinical Diagnosis of Congenital Heart Disease

in some centers, the medical team remains prepared to deal

with the situation after delivery.
Majority of the neonates or infants with low pulmonary
flow (belonging to type Ib) develop hypoxemia leading to
metabolic acidosis, which is to be managed on emergency
basis in ICU. The patency of ductus is to be maintained to
reduce systemic desaturation. Intravenous infusion of
prostaglandin E1 has to be used for this purpose. It is used
causously because of its minor and major side effects. In
some cases, to improve saturation, atrial balloon septostomy
is advised. Infants who develop CHF due to high flow (type
IIc) need conventional decongestive therapy like digoxin
and diuretics and some patients require pulmonary artery
banding. However in all these cases surgical intervention is
mandatory. Gradual development in surgical skill has
decreased the mortality rate significantly. Different surgical
procedures, which are commonly followed in different
centers, are cavo-pulmonary shunt (modified Blalock-
Taussig or Waterson-Cooley shunt), Hemi-Fontan or Fontan
operations.
The result of Fontan surgery depends on certain criteria
laid down by Cloussat. Modified Fontan operation is the
treatment of choice (Fig. 25.11), however in many cases
late result is disappointing because of development of low
Fig. 25.10: Flow diagram showing differential diagnosis of
cardiac output, arryhythmias and protein loosing
congestive heart failure and long systolic murmur at age 4-6
weeks
enteropathy.

or surgical management. In general, the prognosis of these

patients is worse, more so if they belong to high flow group
and are associated with d-transposition. Most of the infants
belonging to this group die before six months of age. On
the whole nine out of ten patients of tricuspid atresia die
before they attain tenth year of life. Only a group of patients
having balanced pulmonary flow (VSD with mild to
moderate PS) may survive up to third decade. These patients
are exposed to risk of infective endocarditis and other
complications.

GUIDELINES FOR MANAGEMENT

Since last two decades death in early months of life has
reduced significantly due to intensive and advanced medical Fig. 25.11: Modified Fontan operation, SVC connected directly
and surgical care. When the diagnosis is made in fetal life, to RPA and IVC connected to RPA through intra atrial tunnel
 Tricuspid Atresia
SALIENT FEATURES
1. In tricuspid atresia (TA) there is no communication
between RA and RV due to atretic tricuspid valve.
2. The blood flows from RA through the interatrial
communication to LA then to LV and to aorta, and also
from LV to pulmonary artery through VSD.
3. Interatrial communication is obligatory and VSD is a
rule rather than exception in TA.
4. Anatomy beyond mitral valve determines type of TA
and clinical features.
5. Commonest type of TA consists of small VSD,
pulmonary stenosis and normally related great arteries
(Type 1b).
239
6. Cyanotic infants symptomatic from infancy with or
without CHF, LV apex (no RV activity), S2 single (only
A2), Ejection systolic murmur over left sternal border
with ECG showing left axis and LVH are diagnostic
features of TA.
7. 2D echo with Doppler confirms the diagnosis by
demonstrating absence of communication and flow from
RA to RV. Size of RA, interatrial communication, VSD
size, severity of PS and great arterial relations are also
judged by echo.
8. In addition to medical management, surgery is the
definitive way of treatment.
 26 Ebstein’s Anomaly
DEFINITION
Ebstein’s anomaly is an uncommon cardiac malformation
characterized by downward displacement of tricuspid valve
into right ventricle due to abnormal attachments of posterior
and also septal leaflets of tricuspid valve to the ventricular
wall more towards its apex, thereby creating two chambers
inside the right ventricle, a proximal atrialized chamber and
distal one which is the real functional ventricular chamber.
HISTORY
The anomaly was first described by Wilhelm Ebstein in
1866 in a 19 year old laborer who died after years of
dyspnea, palpitation and cyanosis, whose postmortem was
conducted by him showed a rare type of tricuspid
regurgitation caused by severe malformation of tricuspid
valve. Alfred Arnstein first named this anomaly as
Ebsteinsche Krankheit (Ebstein’s disease). But the first case
clinically diagnosed as Ebstein’s disease was by Tourniaire
and associates in 1949.
INCIDENCE
Ebstein’s anomaly is a rare congenital heart disease and it
represent approximately < 1 percent of all congenital cardiac
lesions. The prevalence rate is 1 per 20,000 live birth. Lithium
use in pregnancy is blamed as a possible causative agent.
There is difference of opinion as whether there is any
hereditary base for transmission. Both sexes are equally
affected.
EMBRYOLOGY
The tricuspid valve is formed from the interior of the
embryonic right ventricle. There is undermining of the inlet
portion of the right ventricular myocardium, a process
called delamination. Normally, the timing of delamination
AK Bhattacharyya, M Satpathy
is different for anterior leaflet which occurs very early than
the posterior and septal leaflets. In Ebstein’s anomaly there
is an arrest in the process of delamination of posterior and
septal leaflets; as a result they are attached to the junction
between inlet and trabecular portion and a portion of
morphological right ventricle remain superior to these leaflets
(atrialized right ventricular portion).
ABNORMAL ANATOMY
Tricuspid Valve Leaflets
The striking abnormally in Ebstein’s anomaly is the
displacement of septal and posterior leaflets inferiorly, that
is towards right ventricular apex. The two leaflets are
attached considerably below the tricuspid valve ring. These
leaflets are also dysplastic and may be extensively adherent
to the ventricular wall. In contrast the anterior leaflet is
usually large, sail like and not displaced. It may however
be fenestrated and adherent (tethered) to the right ventricular
wall (Fig. 26.1). This leaflet often has abnormally numbered
chordae with abnormal chordal attachments. In about 10
percent of cases of Ebstein’s anomaly the tricuspid valve
is imperforate or stenosed. In this situation the anterior
leaflet blocks the atrialized ventricle from the functional
portion. This condition is called Ebstein’s anomaly with
tricuspid stenosis/atresia.
Right Atrium
The right atrium is hugely dilated and the circumference of
the true atrioventricular junction is also enlarged.
Right Ventricle
Because of the displaced tricuspid leaflets, the right ventricle
is divided into two parts: the atrialized ventricle and the
functional ventricle. The atrialized ventricle or the inlet
 Ebstein’s Anomaly
Fig. 26.1: Schematic diagram of Ebstein’s anomaly. The septal
leaflet of tricuspid valve is displaced apically (arrow), a large
anterior leaflet is tethered to RV free wall, dotted lines indicate
the normal position of tricuspid valve (RA—right atrium, ARV—
atrialized right ventricle, RV—right ventricle, LV—left ventricle,
LA—left atrium)
portion remains above the displaced tricuspid leaflets. This
part is thin and records atrial pressure curve and hence
called atrialized ventricle. The functional or the trabecular
right ventricle is also thin walled with an absolute decrease
in the number of myocardial fibers. The right ventricular
outflow tract is sometimes obstructed by the anterior leaflet
and/or its chordal attachments.
Associated Anomalies
A patent foramen ovale or a secundum type of atrial septal
defect is found in about 90 percent of cases of Ebstein’s
anomaly. Pulmonary stenosis or atresia is associated in 20 to
25 percent of cases. Ventricular septal defect is uncommon.
The coronary arteries are usually normal except that the
right coronary artery may be displaced superiorly and
posteriorly because of the aneurysmally dilated atrialized
ventricle. Rarely congenital anomaly of mitral valve is seen.
Conduction Tissue
Various abnormalities of the right bundle branch are
reported. They are (a) localized superiorly in the sub-
endocardium of atrialized ventricle, (b) give branches like
the left bundle or (c) may supply the septum from right
241
side. In addition accessory atrioventricular pathways
bridging the right atrioventricular junction giving rise to type
B Wolff-Parkinson-White syndrome is well documented.
CLASSIFICATION
Carpenter has proposed the following classification on
the basis of degree of atrialization of right ventricle and the
mobility of the anterior leaflet, which is as follows.
Type A = RV volume is adequate.
Type B = Large atrialized segment of RV; mobile anterior
leaflet.
Type C = Restricted movement of anterior leaflet; may
cause infundibular obstruction.
Type D = Near complete atrialization of RV.
HEMODYNAMICS
The broad spectrum structural abnormalities in Ebstein’s
anomaly produces a number of hemodynamic disturbances.
The pathophysiologic changes are related to the following
structural derangements: (a) Abnormal tricuspid valve. (b)
Atrialized right ventricle. (c) Inadequacy of the pumping
portion of right ventricle. (d) Presence of interatrial
communication. (e) Abnormality of conduction pathways.
(f) Left ventricular dysfunction.
Abnormal Tricuspid Valve
The tricuspid valve is abnormal both in structure as well as
in its attachment; as a result there is usually significant
tricuspid regurgitation (TR) and rarely tricuspid stenosis.
Sometimes the valve leaflets, specially the anterior cusp
produces a large curtain across the right ventricle producing
right ventricular outflow obstruction. The functional conse-
quence of these derangements is decreased right ventricular
filling; a fall in right ventricular stroke output, a grossly
enlarged right atrium and finally right heart failure. A vicious
cycle is established so that TR begets more TR and gives
rise to increased right to left shunt across PFO / ASD.
Atrialized Right Ventricle
The atrialized part of the right ventricle behaves as a
part of right ventricle electrically (intracardiac ECG
records RV complex) though its pressure pulse waves
follow right atrial pressure curve. As a result this part
contributes nothing towards right ventricular stroke output.
 242 Clinical Diagnosis of Congenital Heart Disease
Rather this part acts paradoxically during right atrial
contraction and may even bulge like an aneurysm during
right atrial systole, thereby further reducing right ventricular
filling. It also contributes to huge enlargement of right atrium
seen with Ebstein’s malformation. The peculiarity is that
even the RA and atrialized portion of RV behave as venous
receiving chamber they do not contract simultaneously as
a unit.
Inadequacy of Pumping
Portion of Right Ventricle
Pathological studies of right ventricle in Ebstein’s anomaly
have shown that not only the right ventricle is small in size,
but also there is thinning of the functional or trabecular
part of the right ventricular wall with actual loss of
myocardial fibres. Added to impaired filling and outflow
obstruction, this factor also contributes greatly to right heart
failure.
Presence of Interatrial Communication
As the right atrium is hugely dilated, blood is often shunted
across a patent foramen ovale or a true atrial septal defect
to the left atrium producing systemic arterial desaturation
(right to left shunt).
Abnormality of Conduction Pathways
Various abnormalities of conduction pathways including
presence of right atrioventricular accessory pathways may
give rise to a wide variety of arrhythmias, mostly supra-
ventricular tachycardia. These tachyarrhythmias by shorte-
ning diastolic period and loss of atrial kick also contributes
to right heart failure.
Left Ventricular Dysfunction
Perceived only as a right heart abnormality, Ebstein’s
malformation also exhibits a number of left ventricular
functional derangements. Left ventricle shows areas of
fibrosis, hypertrophy and nonspecific dysplasia. Left ventri-
cular dysfunction is often documented and is thought to be
due to abnormal septal motion and mitral valve prolapse.
Such dysfunction often improves after the anomaly is
surgically treated.
Ebstein’s anomaly in early infancy may present with
special problems. In neonates, the pulmonary vascular
resistance is increased thereby flow to pulmonary circulation
is very much decreased, giving rise to a situation like func-
tional pulmonary atresia. In this situation right to left shunt
increases giving rise to deep cyanosis. The only life saving
channel is a patent ductus arteriosus. Subsequently after
some weeks, pulmonary vascular resistance decreases,
more flow to pulmonary circulation occurs and cyanosis
become less marked and the infant feels comfortable.
CLINICAL FEATURES
Symptoms
The symptoms and signs vary to a great extent depending
on the severity (mild or severe) of tricuspid regurgitation.
One group of infants may remain asymptomatic; grow
normally to adulthood with minimal symptoms and signs
whereas the other group may be very symptomatic with
cyanosis, heart failure from very infancy and their days are
numbered.
Mild cases: These infants are relatively asymptomatic.
Cyanosis is usually absent and the infant grows normally.
Older patients complain of exercise intolerance, palpitation
and dyspnea on exertion. The child does his normal work
but unable to take part in competitive activities. This exercise
intolerance and dyspnea is due to inability of the heart to
increase the cardiac output during demand and insufficient
blood flow to pulmonary circulation during exercise. During
stress cyanosis may be prominent due to increased right to
left shunt at atrial level. Palpitation may be due to
tachyarrhythmias, which is frequently present in this
anomaly.
Severe cases: These infants are symptomatic from birth
with cyanosis and respiratory distress. There is tachycardia,
tachypnea, dyspnea and feeding difficulty. They develop
congestive heart failure. Once the infant develops deep
cyanosis and congestive heart failure, usually the prognosis
is grave. This occurs due to increased right to left shunt
because of increased pulmonary vascular resistance at birth.
Those who survive the crisis, cyanosis gradually decreases
and pulmonary circulation improves due to decreased
pulmonary vascular resistance. These infants grow with
retarded growth, and become relatively asymptomatic.
Squatting is highly unusual.
 Ebstein’s Anomaly
Signs
In most of the cases general growth and body built is usually
normal except a few who are symptomatic from very
infancy. Cyanosis is an important sign; only in a few cases
it is not present. Cyanosis plays a hide and seek game
in this anomaly. Infants with cyanosis may develop
congestive heart failure, gradually cyanosis becomes less
and less marked, the congestive heart failure disappears
and the same infants improve clinically and remain almost
asymptomatic till their adulthood. Cyanosis reappears in
adulthood when the patients develop congestive heart failure
due to increased tricuspid regurgitation and decreased
cardiac output. Another peculiar clinical observation is, the
degree of cyanosis does not correlate with the symptomatic
state. In fact a cyanotic child may have good effort tolerance
in this disease entity. A few cases present with precordial
bulge, due to enlarged right atrium. The precordium is
usually silent and in older cases an undulating or rippling
wave like motion is observed at lower sternal border. One
striking clinical feature is although there is huge
cardiomegaly from infancy the cardiac apex and its
activities are very weakly palpable. JVP is usually
normal; a prominent v-wave expected due to TR; is not
seen as it is well absorbed by highly compliant enlarged
right atrium.
It is auscultation, which first alerts the physician for
the diagnosis of Ebstein’s anomaly.
Note: There is multiplicity of sounds and murmurs which are
so characteristic as to stand out even to untrained ears.
Wide splitting of the first heart sound with loud tricuspid
component is due to wide excursion of large anterior
tricuspid leaflet (abrupt cessation of motion). The tricuspid
component of first heart sound is known as “sail sound”
which resembles an ejection click. The second sound is
also widely split because of delayed activation of right
ventricle as a result of right bundle branch block. A
paradoxically split second sound may be present in patients
with WPW syndrome. Third and fourth heart sounds are
relatively common and produce distinctive triple or
quadruple rhythms. This third heart sound is an early loud
high-pitched sound produced by vibration of large anterior
tricuspid leaflet. Sometimes these two sounds summate
due to prolonged A-V conduction time and become louder
243
during inspiration. In such situation these sounds are indistin-
guishable from a diastolic murmur. Systolic murmur of
tricuspid regurgitation is best heard in lower left parasternal
edge, relatively in a left ward position corresponding to the
abnormally positioned tricuspid valve. The timing of the
murmur may be early systolic as the right atrial pressure
quickly becomes equal to the low right ventricular pressure.
Sometimes the murmur is holosystolic grade 2-3/6, but no
thrill is felt. It is a rough scratchy and low-pitched murmur,
which increases with inspiration. A low-pitched diastolic
murmur may also be audible due to right ventricular filling
with relative tricuspid stenosis. The combination of low-
pitched harsh systolic and diastolic murmur often gives a
distinctive character similar to a pericardial rub. An early
diastolic click corresponding to the opening of the large
anterior leaflet (opening snap of tricuspid valve) may be
audible in some cases. All these contribute to multiplicity
of heart sounds and murmurs in Ebstein’s anomaly.
INVESTIGATIONS
Electrocardiogram
ECG is very helpful in the diagnosis of Ebstein’s anomaly.
It is normal only on rare occasions. In more than one third
of the patients, recurrent episodes of paroxysmal supra-
ventricular tachycardia occur. They may represent atrial
tachycardia, atrial fibrillation or flutter. Junctional and
ventricular arrhythmias including ventricular tachycardia
occur less commonly. Pre-excitation of type B occurs in
5-25 percent of cases and is a good diagnostic marker in
cyanotic children. P-waves are peaked tall and broad
representing right atrial enlargement and termed
“Himalayan P” by Taussig (Fig. 26.2). PR interval may
be prolonged due to prolonged intra-right atrial conduction
time. Intra His and infra His delays are also noted in Ebstein’s
anomaly. QRS complexes show distinctive characteristic
features like right axis deviation, broad and splintered
complexes which are fairly small. In 75-95 percent of
cases right ventricular conduction defect in the form of
right bundle branch block is seen. Right ventricular
hypertrophy (RVH) is never a feature of Ebstein’s
anomaly. Presence of small ‘q’ wave in V1 and sometimes
extending up to V4 is also described.
 244 Clinical Diagnosis of Congenital Heart Disease
Fig. 26.2: ECG of Ebstein’s anomaly showing tall peaked ‘P’
waves in V1 and V2, QRS complexes are small, broad, notched
with absence of RV force (small r in V1 and V2)
Radiography
Ebstein’s anomaly is associated with a distinct type of
cardiomegaly. The cardiac contour consists of a balloon
shaped enlarged heart with a narrow base reminiscent of
that seen in pericardial effusion (Fig. 26.3). It sometimes
presumed if an infant is born with huge cardiomegaly,
Ebstein’s anomaly is the first possibility. The most
dramatic feature in the X-ray is the size of the right atrium,
which in some cases makes up the entire cardiac silhouette.
In the left oblique and lateral views a massively enlarged
right atrium may not only fill the retrosternal space, but
may overlap the spine posteriorly. The ascending aorta and
the pulmonary artery are small accounting for the narrow
pedicle. The right ventricular infundibulum may sometimes
be conspicuously dilated resulting in the left border bulging
horizontally in a shelflike fashion. This along with the right
ward convexity due to enlarged right atrium account for
the boxlike or globular cardiac silhouette. It is also described
as pear shaped or flask shaped heart. The pulmonary
vascularity is usually normal or may be diminished when
there is cyanosis with considerable right to left shunt.
Fig. 26.3: X-ray chest of Ebstein’s anomaly showing cardio-
megaly, RA enlargement, narrow pedicle (inconspicuous aorta
and pulmonary arterial shadow) and decreased vascularity
Echocardiography
Echocardiography is diagnostic in Ebstein’s anomaly and it
has made invasive studies unnecessary in most cases. The
M-mode echocardiographic features of Ebstein’s anomaly
are the following: (i) Enlarged right atrium, (ii) Increased
amplitude and velocity of anterior tricuspid leaflet,
(iii) Paradoxical septal motion, and (iv) Delayed closure of
anterior tricuspid valve leaflet. Normally the tricuspid valve
closes within 30-50 millisecond after the mitral valve. If
the tricuspid closure is more than 50 msecs after the mitral
valve closure, Ebstein’s anomaly should strongly be
considered. The two dimensional echocardiography can
delineate the exact anatomy of Ebstein’s anomaly (Fig. 26.4).
The main diagnostic features are: (a) Downward
displacement of the septal leaflet of tricuspid valve virtually
in all cases. This apical displacement is diagnostic of
Ebstein’s anomaly. Normally the septal leaflet of the tricuspid
valve is attached to the ventricular septum slightly below
the insertion of the mitral valve. If this distance is increased
to a value of greater than 8 mm/ square meter of body
surface, reliably identifies patients with Ebstein’s anomaly.
In children below 14 years a difference of 15 mm and in
adults a difference of 20 mm are considered diagnostic.
(b) Excessive elongation of anterior leaflet of tricuspid valve.
 Ebstein’s Anomaly 245

Figs 26.4A and B: Echocardiography of Ebstein’s anomaly: (A) 4-chamber view shows 42 mm apical displacement of septal
leaflet of tricuspid valve, (B) 2-chamber view showing dilated RA and atrialized RV (*Indicates atrialized RV. RA—right atrium,
RV—right ventricle, LA—left atrium, LV—left ventricle) (Courtesy: Dr SR Mittal, JLN Hospital, Ajmer)

(c) Leaflet tethering to underlying myocardium or absence
of septal or posterior leaflet. (d) Enlarged tricuspid valve
annulus.
There is an echocardiographic grading of severity
of Ebstein’s anomaly for neonates and infants, which is
taken during end diastolic period in a four-chamber view,
the ratio between the combined areas of right atrium and
atrialized portion of the right ventricle to that of areas of
functional right ventricle, left atrium and left ventricle are
taken into consideration. It is graded into four grades,
according to the ratio (1) < 0.5, (2) 0.5 – 1.0, (3) 1.0 –
1.49 and (4) > 1.5.
The other supporting features of Ebstein’s are: (i) Right
atrial volume overload. (ii) Dilatation of right ventricular
outflow tract sometimes aneurysmal. (iii) Atrial septal defect.
(iv) Paradoxical septal motion. (v) Thinned, dysfunctional
right ventricular myocardium. (vi) Fenestration of tricuspid
leaflets. (vii) Associated abnormalities like ventricular septal
defect or right ventricular outflow obstruction. Doppler
flow studies highlight the hemodynamic alterations like
amount of tricuspid regurgitation and the degree of right to
left shunt.
Cross sectional fetal echocardiography is of great help
in predicting this anomaly. Normal standards for the distance
between mitral and tricuspid attachments are worked out.
In the second trimester the range is 1.2-5 mm and in the
third trimester the range is 2.2-6.9 mm. With each 1 week
increase in gestational age, there is an increase of 0.15 mm
in separation between the two valves. Mainly neonatal
mortality is predicted by several features like marked right
heart enlargement, severe tethering of anterior tricuspid
leaflet, associated anomalies like pulmonary atresia and
detection of arrhythmia.
Cardiac Catheterization and Angiography
Echocardiographic evaluation of anatomy is so accurate
that the diagnosis of Ebstein’s anomaly no longer depends
on invasive procedures. However when other anomalies
are associated catheterization and angiocardiography are
necessary. When the catheter passes through femoral route
looping of catheter occurs in RA and it is extremely difficult
to enter into pulmonary artery. Sinus bradycardia is very
often observed when the catheter is in RA or atrialized
portion of the RV. Hemodynamic studies show moderate
elevation of right atrial pressure, with a dominant V-wave
and a steep Y descent. When right atrium is massively
enlarged the atrial pressures may be normal with attenuation
of the waves. Right ventricular and pulmonary artery
pressure are normal, though in some cases right ventricular
end-diastolic pressure is elevated. A substantial antegrade
diastolic pulmonary flow occurs, a Fontan—like circulation.
Systemic arterial desaturation occurs due to shunting at
atrial level. Simultaneous recording of intra cardiac pressure
and intracardiac electrocardiogram in the atrialized portion
of right ventricle shows right atrial pressure tracing with
ventricular electrocardiogram.
Angiocardiography
Right ventricular angiocardiography is characteristic. It
shows a large sail like anterior leaflet. Tricuspid valve
displacement to the left of the spine is seen as a radiolucent
 246 Clinical Diagnosis of Congenital Heart Disease
notch or crescent in this location. Frequently a trilobed
appearance occurs outlining the enlarged right atrium,
atrialized right ventricle and the outflow portion of the
functioning right ventricle. Right ventricular angio also
shows tricuspid regurgitation and a large right atrium.
Electrophysiology
Electrophysiological studies are necessary to document the
atrioventricular accessory pathways in patients with
recurrent tachyarrhythmias; occasionally Mahaim’s
pathway (nodo-ventricular) is detected. Even in patients
with no pre-excitation in surface electrocardiogram, such
studies are now frequently performed particularly in patients
with history of frequent palpitation or in those with docu-
mented tachyarrhythmias, as radiofrequency ablation tech-
nique often relieves such episodes.
DIAGNOSIS
Ebstein’s anomaly can be accurately diagnosed on basis of
clinical history, physical signs, electrocardiographic and
radiological findings. With history of repeated episodes of
tachycardia in a cyanotic patient, the physician starts strongly
suspecting Ebstein’s anomaly. Gross cardiomegaly without
parasternal activity, multiplicity of heart sounds and
murmurs, typical ECG and radiological findings give the
correct diagnosis of Ebstein’s anomaly. It is echocardio-
gram and on rare occasions cardiac catheterization and
angiography confirm the final diagnosis.
DIFFERENTIAL DIAGNOSIS
Clinical condition having cyanosis and symptoms of
decreased pulmonary flow during infancy comes under
differential diagnosis like—tetralogy of Fallot, tricuspid
atresia, pulmonary atresia, single ventricle with pulmonary
stenosis and transposition of great arteries with pulmonary
stenosis. All these conditions are differentiated because of
they have particularly scarcity of heart sounds and murmurs
as contrast to plethora of heart sounds and murmurs heard
in Ebstein’s anomaly as already described. Electro-
cardiogram and X-ray of chest help in differentiating these
conditions whereas echocardiography confirms the
diagnosis.
Patients having no cyanosis are confused with pericardial
effusion, pulmonary stenosis, Uhls anomaly, multi-valvular
lesions of rheumatic heart disease and intracardiac tumors
(mainly of RA and RV origin). Pericardial effusion confuses
with Ebstein’s anomaly because of superficial systolic and
diastolic murmur of Ebstein’s anomaly mimic pericardial
rub and radiological appearance of cardiac silhouette
resemble pericardial effusion, but presence of cyanosis,
multiple heart sounds and murmurs easily differentiate this
condition. Intracardiac tumors of right atrial and right ventri-
cular origin give rise to cardiomegaly and systolic murmur
(TR murmur) that confuse with diagnosis of Ebstein’s
disease. But their onset in adulthood and rapid progression
with signs of systemic illness and lastly echocardiographic
findings differentiate these two conditions. Rheumatic multi-
valvular heart lesions are easily excluded on clinical, ECG
and radiological findings. The main differentiating sign is
cyanosis, which is never present in multi-valvular lesions.
COMPLICATIONS
i. Heart failure: It is the commonest cause of mortality
as more than fifty percent of the patients dying from
right heart failure.
ii. Arrhythmia: Supraventricular arrhythmias are common
though ventricular arrhythmia and complete
atrioventricular block requiring pacing (pace maker
implantation) are well documented.
iii. Infective endocarditis remains a risk throughout the
patient’s life.
iv. Paradoxical embolism occurs due to right to left shunt.
v. Systemic arterial desaturation giving rise to poly-
cythemia, thrombotic episodes and coagulation
pathway abnormality may occur.
vi. Progressive left ventricular dysfunction is well
documented in patients who survive up to adulthood.
NATURAL HISTORY AND PROGNOSIS
The natural history and prognosis depend on the severity
of the lesion and presence of associated defects. Severe
disease leads to mortality in early infancy, though survival
is described up to the ninth decade. This anomaly may
present at any age from fetal life to late adulthood. Those
who survive infancy may have remarkably little disability
till the third decade. The outlook for children is good with
acyanotic Ebstein and without arrhythmia. After 30 years,
however, the mortality sharply increases and less than 5
percent of the patients survive beyond 50 years. It is
arrhythmias particularly onset of atrial fibrillation limits the
life span within 5 years. Patients with Ebstein’s anomaly
 Ebstein’s Anomaly
tolerate pregnancy well. However, there is increased risk
of prematurity, fetal loss and congenital heart disease in
the offspring. Presence of maternal cyanosis and arrhythmia
warrant closer observation. The incidence of congenital
heart disease in the offspring of women with Ebstein’s
anomaly is reported to be 6 percent.
Note: It may be said that less the cyanosis, the smaller the
heart and fewer the arrhythmias, the better is the outlook and
these patients survive up to late adulthood.
Left Sided Ebstein’s Anomaly
In congenitally corrected transposition of great arteries
(cTGA) the morphologic RV is placed on left side from
which aorta originates. As atrioventricular (AV) valves are
always concordant with their respective ventricles, tricuspid
valve is present on the left side in cases of cTGA. In these
cases Ebstein’s like anomaly is not uncommon on the left
sided AV valve, which is morphologically tricuspid valve.
Left sided Ebstein’s anomaly is not exactly same as that of
right sided ones. The anterior leaflet in left sided Ebstein
may not be large and atrialized atrium is not as thin and
dilated as in right-sided Ebstein’s anomaly.
GUIDELINES FOR MANAGEMENT
Medical Management
Management depends upon symptomatic status of the
patient. In severe cases, the neonate requires resuscitation
preferably in a specialized center. Congestive heart failure
is managed with conventional anti failure drugs (Digoxin
and Diuretics) and hypotension is managed with inotropic
agents (Dopamine and Dobutamine). In some special cases
Prostaglandin E1 infusion is also required. Metabolic
acidosis in severely cyanotic infant is corrected. Prophylaxis
for infective endocarditis is advised. When the child improves
he is advised for surgical correction.
Patient having less severe lesion are not very sympto-
matic and grow to adulthood. In these cases elective surgery
is advised. In some cases arrhythmias particularly supra-
ventricular arrhythmias create some problem. Electro-
physiological study outlines the definite accessory pathways
and are managed with radio frequency catheter ablation
techniques or conventional anti arrhythmic drugs (Class
Ia, Ic and Class III).
247
Surgical Management
Surgery is now a days quite rewarding. It is even done in
neonates. Surgical management includes mainly repair of
tricuspid valve, atrial septal closure (Danielson or Carpentier
technique) and sometimes replacement of tricuspid valves
(antibiotic treated semilunar allograft valve). For recurrent
SVT surgical interruption of the accessory pathways is
sometimes advised. Recently in some advance centers heart
transplantation has been performed with success.
SALIENT FEATURES
1. Ebstein’s anomaly is due to abnormal displacement of
tricuspid valve inside the RV cavity creating a small
functional RV chamber and an atrialized RV.
2. Symptoms vary from neonatal heart failure to totally
asymptomatic up to adulthood depending on the
severity of deformity, TR and presence of arrhythmia.
3. Cyanotic child relatively asymptomatic with a huge
heart, multiple heart sounds and murmurs, diagnosis is
Ebstein’s anomaly. Palpitation may be a symptom due
to associated pre-excitation and supraventricular
arrhythmia, which draws the attention of the patient.
4. ECG showing Himalayan P-wave in V1, small comp-
lexes with RBBB (wide splintered complexes) and type-
B pre-excitation favors the diagnosis. Remember RVH
is never present.
5. X-ray findings of huge cardiomegaly (RA and RV
enlargement) with narrow pedicle and diminished
vascularity are very specific of Ebstein’s disease.
6. The peculiarity of this anomaly is, it is the only anomaly
that can be diagnosed with fair accuracy alone by
clinical examination or by ECG or by radiological
findings.
7. Echocardiography confirms the diagnosis delineating
the abnormal attachment of tricuspid valve, atrialized
chamber and degree of TR.
8. Medical management includes decongestive therapy,
antiarrhythmic drugs, besides radiofrequency catheter
ablation. Surgery is the definitive way of management.
UHL’S ANOMALY
Uhl’s anomaly is an extremely rare condition, its incidence
and prevalence is not known. It is characterized by hypo-
plasia or aplasia of right ventricular (RV) wall that is hugely
dilated with very thin (parchment like) wall, being one to
two millimeters in thickness. RV behaves as a passive
reservoir rather than a contracting chamber. The right atrium
 248 Clinical Diagnosis of Congenital Heart Disease
(RA) is dilated; its wall is thickened due to myocardial
hypertrophy. The tricuspid leaflets are attached to the
annular ring and normally connected to papillary muscles
by chordae tendinea. The tricuspid valve is competent. The
interventricular septum is normal. The pulmonary valves
are normal, but pulmonary trunk is hypoplastic. The left
atrium and ventricle are normal with normal atrioventricular
and ventricular arterial relationship.
There occurs progressive dilatation of RV that attains
enormous size. RA contracts against resistance. This
forceful contraction gives rise to prominent ‘a’ wave in
JVP and prominent presystolic wave in right ventricle and
pulmonary arterial tracing. In other words the right atrium
functions as an extra pumping chamber and the right
ventricle as a conduit for pushing blood to pulmonary
circulation. The paradoxical movement of interventricular
septum helps in driving blood from right ventricle to
pulmonary artery. The left ventricle is very often affected
either by endocardial fibroelastosis or myocarditis which
gives rise to increased LV endiastolic pressure and sub-
sequently increased LA pressure and increased pulmonary
venous pressure.
Infants with Uhl’s anomaly develop congestive heart
failure. Cyanosis is not a feature. Apical impulse is usually
out (sometimes may be down). Precordium is not pulsatile.
Both heart sounds are usually muffled, because of slow
and weak closure of tricuspid and pulmonary valves, as
RV contraction is not effective. Second heart sound may
be single (only A2). A loud constant third heart sound (S3
gallop) is audible. It is due to vibration of thin and flabby
RV wall during rapid flow of blood in early diastolic period.
No murmur is audible because no tricuspid regurgitation
occurs.
ECG show right atrial enlargement. QRS axis is usually
within normal range. QRS complexes over right precordial
lead are small because of hypoplasia of RV myocardium
and normal size complexes in left precordial leads suggest
normal left ventricle.
Chest X-ray shows huge and diffuse cardiac enlarge-
ment with decreased pulmonary vascularity. RV Infundi-
bulum is present as a hump shaped portion on the left side
of the cardiac border.
Echocardiogram is diagnostic showing normal valvular
attachments in setting of dilated and thin wall right ventri-
cular chamber. Brisk paradoxical motion of interventricular
septum is seen. Doppler echocardiogram with colored flow-
imaging show no significant tricuspid regurgitation (TV
valve is competent).
Treatment is mainly symptomatic. Infants suffering
from congestive heart failure are treated with decongestive
therapy (digoxin and diuretics). No definite surgical manage-
ment yet available.
 27 Pulmonary Atresia with Intact
Ventricular Septum
V Gouthami

DEFINITION
Pulmonary Atresia with Intact Ventricular Septum (PA-
IVS) is a congenital malformation with complete obstruction
of right ventricular outflow in the presence of an intact
ventricular septum (Fig. 27.1). Survival depends upon
patency of ductus arteriosus through which pulmonary
arteries receive blood from aorta. It is not simply a complete
interruption of forward flow from right ventricle, but a
complex cardiac malformation forming a spectrum of
lesions including atresia of pulmonary valve, various degrees
of right ventricle and tricuspid valve hypoplasia and
anomalies of coronary circulation. Sometimes it is referred
to as “hypoplastic right heart syndrome.”

HISTORY
Pulmonary atresia with intact ventricular septum was first
described by John Hunter in 1783. Peacock described PA-
IVS elaborately in 1839. Right ventricle to coronary artery
fistula was recognized by Grant in 1926.
Fig. 27.1: Schematic diagram of pulmonary atresia with intact
interventricular septum. Straight arrow indicates a artretic
pulmonary valve, there is a well formed pulmonary artery (PA).
Curved arrow indicates flow to pulmonary artery through a
patent ductus arteriosus (LA—left atrium, RA—right atrium,
LV—left ventricle, RV—right ventricle, Ao—aorta)

INCIDENCE
PA-IVS accounts for 3.1 percent of all critically ill infants
with congenital heart disease. This is the 10th most common
congenital heart disease amongst neonates. It is a very rare
anomaly beyond infancy.
EMBRYOLOGY
The mechanism of embryological development is not well
defined. In embryonic life (stage 15) the maldevelopment
of the endocardial cushions (larger lateral cushions) may
result in abnormalities of semilunar valves. The presence
of raphae in the membrane that forms the plane of valve
has led investigators to propose that PA-IVS occurs late in
cardiac development, after cardiac septation is complete.
These postulations are supported by serial observations of
human fetuses by ultrasound. Initial studies did not reveal
the lesion, but it become apparent in subsequent studies.
Kusche and Van Mierop suggest PA-IVS may be the result
of fetal endocarditis and it is not a true congenital
malformation. The possible causes for pulmonary atresia
which develops in late gestational period may be
inflammatory, infectious or viral (rubella syndrome). It is
most probably an acquired disease in utero rather than
an abnormal development. It is primarily a right heart
problem with myocardial, valvular and coronary vascular
components.
 250 Clinical Diagnosis of Congenital Heart Disease
ANATOMICAL ABNORMALITIES
PA-IVS morphology is heterogeneous. At one end pulmo-
nary valve is membranous and atretic with a well-developed
right ventricle, at the other end there is atretic infundibulum
with severely hypoplastic right ventricle.
Pulmonary trunk and pulmonary arteries are usually
normal in diameter or slightly hypoplastic. Moderately or
severely hypoplastic pulmonary arteries are present in only
6 percent of cases.
Size of right ventricular cavity is variable (varies from
extremely small or cherry pit to normal or even larger than
normal). In about two-thirds of patients, right ventricular
cavity is small and in this group either inlet portion alone or
the inlet and trabecular portions of right ventricle well
developed, but outflow tract or infundibulum is atretic. In
the remaining patients right ventricular cavity is normal or
dilated. Size of right ventricle has important surgical
implications.
Tricuspid valve is almost always abnormal both
morphologically and functionally. Abnormalities result in
extreme stenosis to severe regurgitation. The small right
ventricle variety is associated with a correspondingly small
tricuspid orifice, in other words the tricuspid orifice strongly
correlates with the size of RV cavity. The leaflets are
thickened, chordae are abnormal in size, number and in
their attachment. In the less common variety, where right
ventricular cavity is normal or dilated, the tricuspid annulus
is normal or dilated. Ebstein’s anomaly accompanies PA-
IVS in 5-10 percent of patients.
Right atrium is always enlarged and more enlarged in
patients with severe tricuspid regurgitation. Interatrial
communication is present in all cases either in the form of
foramen ovale (20% of cases) or true ostium secundum
defect. Left atrium is almost always dilated and
hypertrophied. Left ventricle shows hypertrophy. Aorta is
normal and arch is almost always left sided.
Patent ductus mediates the pulmonary circulation at birth
and its tendency to close is lethal for the patients with this
malformation. Very rarely pulmonary arteries are supported
by aortopulmonary collaterals.
Myocardium shows various abnormalities including
ischemia, fibrosis, infarction, myocardial disarray and
endocardial fibroelastosis.
A number of congenital and acquired conditions of
coronary circulation are specifically associated with PA-
IVS. These include
i. Absent connection between proximal coronary artery
and aorta
ii. Coronary stenosis
iii. Coronary interruption
iv. Coronary cameral fistula—(fistula between coronary
artery and right ventricle)
Ventriculocoronary arterial communications occur with
small right ventricles and primarily located in right ventri-
cular apex.
In the presence of coronary interruption, severe
coronary stenosis and absent aortocoronary connection,
the coronary circulation depends on right ventricle. This is
called right ventricular dependent coronary circulation. The
systemic or supra systemic right ventricular pressure drives
blood into coronaries through persistent embryonic intra-
myocardial sinusoids. Coronary abnormalities result in
myocardial ischemia, myocardial infarction and left
ventricular aneurysms.
CLASSIFICATION
Greenwold Classification
This is old and pathological classification described by
Greenwold et al in which PA-IVS is subdivided into two
types based on the size of right ventricle.
Type I
Pulmonary atresia with an intact IVS, small volume, thick
walled right ventricle and hypoplastic tricuspid orifice. This
is more common type (over three quarter of cases).
Type II
PA-IVS, normal sized or dilated right ventricle and tricuspid
regurgitation.
In both types, the pulmonary valve is imperforate. Blood
leaves the right atrium through patent foramen ovale/atrial
septal defect and pulmonary blood flow depends on PDA.
Bull and de Leval Classification
Goor and Lillehei suggested the morphological division of
the right ventricle for normal hearts into sinus (inflow),
 Pulmonary Atresia with Intact Ventricular Septum
trabecular and infundibular (outflow) portions. Based on
this tripartite principle, PA-IVS is identified as three groups
by Bull and de Leval
Group I : Those with tripartite right ventricle.
Group II : Those with absent trabecular portion.
Group III : Those with absent trabecular and infundibular
portions.
Milliken Classification
This is surgically oriented classification based on the degree
of right ventricular hypoplasia.
PA-IVS is classified as 3 groups by assessing right
ventricle size, tricuspid valve size; right ventricle morphology
and level of right ventricular outflow tract obstruction from
angiogram.
Mild
• Adequate tricuspid annulus.
• Mildly hypoplastic right ventricular cavity.
• Well developed right ventricular outflow tract.
Moderate
• Moderately hypoplastic tricuspid annulus.
• Moderately hypoplastic right ventricular cavity.
• Moderately hypoplastic right ventricle outflow tract.
Severe
• Severely hypoplastic tricuspid annulus.
• Severely hypoplastic right ventricular cavity.
Severely hypoplastic or absent right ventricular outflow
tract.
PATHOPHYSIOLOGY
In the Fetus
Intracardiac circulatory pattern is normal but there are
alterations in fetal flow in certain aspects. All the blood
returning to heart from vena cavae must cross foramen
ovale. So, foramen ovale is quite large to accommodate
this increased flow. Left ventricular output and ascending
aortic blood flow is increased. Aortic isthmus is as wide as
aorta because of increased flow (almost 2 to 3 times) than
normal flow across it.
251
Normally, large volume of blood (around 55-60% of
cardiac output) is carried by ductus from pulmonary artery
to descending aorta. In infants with PA-IVS, the ductus is
the source of blood flow to the fetal lung and carries around
8-10 percent of cardiac output. Pressure in pulmonary
arteries is determined by the size of ductus and pulmonary
blood flow is determined by pulmonary vascular resistance.
As there is no forward egress across the right ventricular
outflow tract, blood is ejected back into right atrium if
tricuspid valve is incompetent.
Oxygen saturation of blood in the ascending aorta,
descending aorta and the pulmonary circulation is equal.
After Birth
In neonates, circulatory pattern is abnormal (fetal
circulatory pattern is maintained). Most of the venous blood
returning from superior vena cava and inferior vena cava
to right atrium enters left atrium through patent foramen
ovale/atrial septal defect, from there to left ventricle and to
aorta. Some of the blood that enters right ventricle, can not
be expelled from the pulmonary valve as it is atretic. That
blood exits from right ventricle into right atrium through
tricuspid valve and/or through myocardial sinusoids, which
may communicate with coronary arteries. Blood gets
oxygenated in pulmonary circulation, after passage through
the patent ductus arteriosus. Normal postnatal closure of
ductus results in profound hypoxemia and death in neonates,
because only access to pulmonary circulation is through
the ductus.
HEMODYNAMICS
Right atrial pressure exceeds the left atrial pressure. There
is obligatory right to left blood flow across the patent
foramen ovale. Systolic pressure in right ventricle exceeds
the systemic arterial pressure (supra systemic right
ventricular pressure) if tricuspid valve is competent. In this
situation, small amount of blood that entered right ventricle
is aggressed through myocardial sinusoids to coronary
arteries from which it goes to coronary venous system and
to coronary sinus (thebesian veins) to enter RA and again
to RV. This circulation is known as circular shunt.
If the tricuspid valve is incompetent, it does not permit
the development of high right ventricular pressure and right
 252 Clinical Diagnosis of Congenital Heart Disease
ventricle pressure does not exceed systemic arterial pressure
(sub-systemic pressure). Pulmonary blood flow depends
entirely upon left to right shunt through patent ductus
arteriosus.
Left ventricle is volume loaded as it maintains the total
cardiac output. Left ventricle compliance is decreased in
many patients. Coronary blood flow is abnormal even in
patients without myocardial sinusoidal communications. In
normal children, blood flow occurs both during systole
and diastole through right coronary artery because right
ventricular pressure is low throughout cardiac cycle. In
infants with PA-IVS due to high right ventricular pressures,
decreased coronary blood flow cause chronic ischemia
which leads to fibrosis of right ventricle.
When ventriculocoronary artery communications via
right ventricular myocardial sinusoids exists, they produce
important hemodynamic consequences and cause
myocardial ischemia by a number of mechanisms. Systemic
arterial saturation is decreased and depends on pulmonary
blood flow.
CLINICAL FEATURES
Symptoms
Cyanosis is noted immediately after birth. This cyanosis
becomes more prominent when the infant starts crying.
After a day or two the cyanosis deepens, feeding difficulty
and respiratory distress (tachypnea) become apparent
because of closure of ductus. The infant becomes irritable
and facial edema may appear, subsequently there occurs
severe hypoxemia, metabolic acidosis and tachypnea. These
symptoms indicate that the prognosis is grave. Unless the
ductus is kept patent by medical active management (prosta-
glandin E1 infusion) or the obstruction to outflow tract is
removed by any invasive or surgical procedure infant will
not survive.
Signs
Central cyanosis is present in all infants and clubbing appear
if the infant survive beyond six months of age. Arterial
pulses are normal, when the peripheral pulses are diminished,
indicate decreased cardiac output. Jugular venous pressure
is raised but it is difficult to assess in infants. Giant a-wave
and giant v-wave (if TR is present) are well appreciable.
Precordium is silent, no heave or thrill is palpable. In few
cases cardiomegaly is present when there is TR. The
precordium may be hyperactive when TR is significant
(mainly in Type II). In this group congestive heart failure
is present even from birth. LV impulse is well felt but there
is no RV impulse. First and second heart sounds are single
and muffled, heard better over left lower sternal border. A
soft mid systolic murmur present at the base due to large
flow into aorta. In some cases a transient soft systolic
murmur or high-pitched continuous murmur over upper
left sternal border is sometimes intermittently audible (due
to flow across the closing duct). A soft systolic murmur at
lower left sternal border is heard in most of the cases
because of significant tricuspid regurgitation. Another faint
mid-diastolic murmur over left lower sternal border is audible
in rare cases due to rapid flow from right atrium to large
RV cavity (due to relative tricuspid stenosis).
Note: In a cyanotic infant absence of RV impulse with palpable
LV arose strong suspicion of PA with IVS or tricuspid atresia.
INVESTIGATION
Electrocardiography
ECG shows normal sinus rhythm, left ventricle dominance
with absent right ventricular forces. Frontal QRS axis is
usually +30o to 90o (i.e. less rightward than normal). Frontal
QRS axis is a useful means of distinguishing PA-IVS from
tricuspid atresia in which left axis deviation occurs. Tall,
peaked ‘p’ waves suggesting right atrial enlargement may
be present. “Adult” precordial pattern rather than usual right
ventricular hypertrophy (i.e. left ventricular dominance with
absent right ventricle forces) is pathognomonic finding of
PA-IVS. In some cases ST-T changes are noted which
indicates abnormal coronary artery (suggestive of
myocardial ischemia). ECG pattern of right ventricular
hypertrophy or left ventricular predominance do not reliably
predict right ventricular size.
Radiography
There is no characteristic radiologic appearance of PA-
IVS. As this anomaly occurs with situs solitus and
atrioventricular and ventriculoarterial concordance except
in very rare occasions, chest X-ray shows evidence of
situs solitus and levocardia. Cardiac contour is not
distinctive. Cardiac size may vary from normal to massive
 Pulmonary Atresia with Intact Ventricular Septum
Fig. 27.2: X-ray chest of PA-IVS showing RA enlargement,
concave pulmonary arterial segment, decreased vascularity
cardiomegaly. Cardiomegaly is directly related to the amount
of tricuspid regurgitation, it may be huge due to right atrial
enlargement. Massive cardiomegaly is noted in infants with
PA-IVS with coexistent Ebstein’s anomaly. Main
pulmonary artery segment is normal or may be concave
due to hypoplastic main pulmonary artery and its branches.
Pulmonary vascular markings are normal or reduced
(Fig. 27.2). Aortic arch is always left sided. If the aortic
arch is not left sided, a condition other than PA-IVS should
be considered.
Cyanotic neonate with radiological evidence of
massive cardiomegaly and pulmonary oligemia,
anticipated to have one of the following anomalies:
i. PA-IVS with severe tricuspid regurgitation.
ii. Ebstein’s malformation.
iii. Isolated tricuspid valve dysplasia with severe tricuspid
regurgitation.
iv. Transient tricuspid regurgitation of newborn.
v. Uhl’s anomaly.
Echocardiography
Echocardiography is an important tool for the diagnosis of
PA-IVS. The echocardiographic assessment is not only
important in establishing the diagnosis, but also has para-
mount importance in decision making regarding the type
of treatment necessary. In some cases, it may obviate the
need of angiocardiography. 2D Echo findings show dilated
right atrium which is always present and more so in infants
253
with severe tricuspid regurgitation. Patent foramen ovale/
ostium secundum atrial septal defect almost always exists.
Interventricular septum is intact. Left ventricle is well
developed. Right ventricle can present as hypertrophied,
small to large and dilated one. Hypoplasia of right ventricle
varies from mild to severe. Right ventricular morphology,
degree of obliteration of three components of right ventri-
cular cavity can be assessed. Endocardium shows deep
invagination, representing blind intra myocardial sinusoids
or proximal segments of ventriculocoronary artery
communications (Fig. 27.3A). The dimensions of tricuspid
valve are well correlated with right ventricular cavity.
Tricuspid valve ‘Z-score’ can be obtained from annular
diameter, which has surgical implications.
Measured diameter — Mean normal diameter
Z value = _____________________________________________________________
Standard Deviations of Mean Normal Diameter
Patients with tricuspid z-scores > 2.5 have almost no
risk of having a right ventricular dependent coronary system
and have a high likelihood of achieving biventricular repair.
In majority of cases, pulmonary atresia is at valve level.
In a few cases atresia involves both valve and infundibulum.
Atretic pulmonary valve appears as thick, immobile dense
line or diaphragm that moves but fails to open. Pulmonary
trunk is normal. Patent ductus arteriosus and dilated coronary
arteries are well delineated in most of the cases.
Color Doppler reveals right to left shunting across
(Fig. 27.3B) patent foramen ovale/atrial septal defect,
presence or absence of tricuspid regurgitation, evidence of
sinusoids and ventriculocoronary arterial communications
to aorta and left to right shunt across patent ductus
arteriosus (it is a vertical duct running vertically from
aortic arch to pulmonary artery). There is no antegrade
flow across pulmonary valve. It is important to distinguish
anatomical pulmonary atresia from functional pulmonary
atresia. Functional pulmonary atresia occurs in Ebstein’s
malformation of the tricuspid valve and either conditions
cause severe tricuspid regurgitation (because other tricuspid
valve abnormalities). Degree of the right ventricular
hypertension is estimated by Doppler gradient across the
regurgitant tricuspid valve.
Cardiac Catheterization
Cardiac catheterization is almost always indicated in new
born evaluation of PA-IVS even when the diagnosis is
established by echocardiography. It is indicated:
a. To search for coronary arterial stenosis and interruption
b. To look for myocardial sinusoids
 254 Clinical Diagnosis of Congenital Heart Disease

Figs 27.3A and B: Echocardiography of pulmonary atresia with intact interventricular septum: (A) apical view shows thick and
small RV cavity with myocardial sinusoids in left panel, right panel shows color flow into the sinusoids (B) short axis shows a
atretic pulmonary valve (arrow) in left panel, right panel shows ductal flow in pulmonary artery (RV—right ventricle, RA—right
atrium, Ao—aorta) (Courtesy: Dr SK Sahoo, Cuttack)

c. To look for ventriculocoronary arterial communications
d. Recently for transcatheter based intervention
(perforation of atretic pulmonary valve, stenting of
ductus).
Catheterization Findings
Right atrial mean pressure is higher than left atrial mean
pressure (normally RA mean pressure is 3 mm Hg which
raises up to 18 mmHg). Right atrial pressure tracing shows
prominent ‘a’ wave. Right ventricular pressure shows
systemic or supra systemic systolic pressures and
abnormally high end-diastolic pressures. Sub-systemic right
ventricular systolic pressures noted in patients of PA-IVS
with tricuspid regurgitation, where the ‘v’ wave is also
prominent in RA pressure tracing.
Low systemic arterial saturation is noted. Superior
venacava, inferior venacava, right atrium and right
ventricular saturations are similar. O2 saturation in left
atrium, left ventricle and aorta are similar and decreased.
Pulmonary vein saturation is high and above 95 percent.
O2 saturation in pulmonary artery is similar to systemic
arterial saturation.
Angiocardiography
It is an important imaging modality in patients with PA-
IVS. Right ventricular angiogram, aortic root angiogram
and selective coronary angiograms give valuable information.
Right ventricular angiogram demonstrates size of right
ventricle. The RV size correlates well with the severity of
TR. TR is measured by selective RV angiography preferably
by Goodale and Lubin (end hole and two side holes) catheter.
The presence or absence of ventriculocoronary arterial
communications is demonstrated and extent of atretic
segment is well delineated by right ventricular angio. Aortic
root angio defines the origin and course of coronary arteries
and presence or absence of fistulous connections to right
ventricle. Left ventricular angiogram is also done to evaluate
its size and function even if no abnormality is suspected.
DIAGNOSIS
In neonates or infants with cyanosis, reduced pulmonary
blood flow with dominant left ventricle, PA-IVS should be
suspected. Similarly neonates with cyanosis with a faint
continuous murmur over left upper sternal border (localized)
due to ductus suggest pulmonary atresia. Electrocardiogram
shows evidence of right atrial enlargement; normal QRS
axis and adult QRS pattern in chest leads. X-ray shows
evidence of situs solitus, normal or dilated cardiac silhouette,
normal to concave pulmonary artery segment with decrea-
sed pulmonary blood flow and left aortic arch. However
age factor place an important role in diagnosis of PA-IVS
as survival beyond six months is slim and beyond one year
of age is rare. So even if clinical features are suggestive of
PA-IVS the clinician thinks twice to diagnose PA-IVS in
 Pulmonary Atresia with Intact Ventricular Septum
cases who are beyond one year of age. Echocardiography
shows evidence of imperforate pulmonary valve, well
formed pulmonary artery, patent ductus arteriosus, thick
walled hypoplastic right ventricle or dilated right ventricle.
Right ventricular angiocardiography demonstrates right
ventricular size, tricuspid regurgitation, fistulous
connections between right ventricle and coronary arteries
and confirms the diagnosis of PA-IVS.
DIFFERENTIAL DIAGNOSIS
The following clinical conditions come under differential
diagnosis of PA-IVS.
1. Tetralogy of Fallot with pulmonary atresia (PA)
2. Severe pulmonary stenosis with intact ventricular
septum (PS with IVS)
3. Tricuspid atresia
TOF with PA: Cyanosis appears right from birth, RV
impulse is felt, second heart sound is single, loud aortic
ejection click, no murmur (hardly faint) or continuous
murmur of PDA/collaterals may be audible. ECG shows
right axis deviation and RVH. Radiological features are
pulmonary vascularity is grossly diminished and cardiac
silhouette is typical of TOF.
Severe PS with IVS: Mild cyanosis which appears later,
cardiomegaly is present, peripheral pulses are decreased
(because of low cardiac output), signs of CHF may be
present, second heart sound is single, ejection systolic
murmur 3-4/6 is heard over pulmonary area. ECG shows
right axis deviation, right atrial enlargement and right
ventricular hypertrophy, in some neonates with severe
pulmonary stenosis, left ventricular hypertrophy is present
(due to right ventricular hypoplasia).
Tricuspid atresia : TAPVC, TGA and truncus arteriosus
present with neonatal cyanosis similar to PA-IVS but they
belong to high flow group. Clinical examination combined
with ECG, X-ray and finally echocardiography can very
well differentiate all these conditions.
COMPLICATIONS
1. Sudden cardiac death
2. Angina
3. Arrhythmia
4. Congestive heart failure
255
5. Complications related to polycythemia like brain abscess,
cerebrovascular accident (cerebral hemorrhage) and
hemiplegia.
NATURAL HISTORY AND PROGNOSIS
Natural history is short because early survival mainly
depends on ductal patency. The untreated cases carry grave
prognosis, within two weeks of birth 50 percent and by six
months 85 percent die. Survival up to second or third
decade is extremely rare. It is early intervention either by
invasive procedure or by surgical intervention the natural
course of the disease has greatly changed. Now a day the
natural history can be followed from uterine stage with the
help of fetal echocardiography. Fetus with dilated RV and
severe TR develop foetal hydrops, which result in foetal
death.
GUIDELINES FOR MANAGEMENT
Medical management: Patients of PA-IVS need special
medical care for their survival. The neonates become very
ill soon after birth because it is a fully duct dependent lesion.
These neonates or infants are ideally put in intensity care
unit and prostaglandin (0.05 to 0.1 microgram/kg/min)
should be stated immediately. Prostaglandin (PGE1) should
not be continued for a prolonged period because of its dis-
tinct side effects, so infants should be adequately stabilized,
before any interventional procedure. Metabolic acidosis is
corrected and mechanical ventilator may be used if required.
Surgery is mandatory for survival of these infants.
Surgical treatment depends on size and morphology of
tricuspid valve, right ventricle and presence of abnormal
coronary artery anatomy.
Coronary artery anatomy has to be ascertained by cardiac
catheterization and angiography (particularly to show RV
sinusoids). During catheterization balloon atrial septostomy
if necessary is done to increase systemic saturation. Percu-
taneous laser or radio frequency (RF) assisted perforation
and balloon dilatation of atretic pulmonary valve are also
considered if there is membranous type of pulmonary valve
atresia.
In the past systemic to pulmonary shunts with atrial
septostomy was advised then pulmonary valvotomy was
considered. After a number of surgical modifications, now
 256 Clinical Diagnosis of Congenital Heart Disease
it is generally accepted that two-ventricle circulation with
completely separated pulmonary and systemic circuits are
ideal surgical procedures.
SALIENT FEATURES
1. In this anomaly pulmonary valve is atretic, right ventricle
is hypoplastic (hypoplastic right heart syndrome). Intra-
myocardial sinusoids in the small and thick RV are
present; RA is dilated with obligatory right to left shunt
across PFO/ASD.
2. It is a duct dependent lesion (pulmonary flow depends
on persistence of ductus arteriosus). Neonates become
critically ill with onset of closure of duct.
3. Neonates with cyanosis, LV apex, no significant murmur
with ECG showing normal axis, RA enlargement and
LV dominance like an adult ECG arose strong suspicion
of PA-IVS. (Similar ECG with left axis is suggestive of
tricuspid atresia).
4. X-ray chest shows normal to small pulmonary artery
segment with decreased vascularity. Aortic arch is
always left sided.
5. Echocardiography confirms the diagnosis showing
imperforate thickened and immobile pulmonary valve
but well formed pulmonary artery; presence of ductus,
well-developed LV and a thick walled small RV.
Catheterization and angiography is mandatory before
surgery.
6. Recent advancement in interventional and newer
surgical procedures are definitive ways of management.
 28 Tetralogy of Fallot

PK Pati

DEFINITION
Tetralogy of Fallot (TOF) is the most common cyanotic
heart disease encountered after infancy having four classical
characteristic abnormalities (Fig. 28.1). They are:
(i) ventricular septal defect (VSD), usually large and peri-
membranous type, (ii) pulmonary stenosis (PS), mainly
infundibular and sometimes—valvular type, (iii) overriding
of aorta and (iv) right ventricular hypertrophy (RVH). In
other words, TOF is characterized by biventricular origin
of aorta above a large VSD, obstruction to pulmonary blood
flow and right ventricular hypertrophy.

HISTORY
This anomaly was first mentioned by Danish anatomist
Neils Stensen in 1671 and described more than a century
later by Sandifort in 1777. But the detail clinicopathological
correlation of this anomaly was again described one century
later by Fallot in 1888, which now bears his name as
Tetralogy of Fallot. Alfred Blalock and Helen Taussig in
1945 conceived the idea of aorto pulmonary shunt, which
was implemented by Vivien Thomas. Lillehei and Kirklin in
1954 for the first time did total intracardiac repair of this
anomaly.
PREVALENCE
Prevalence of TOF is 0.262 per 1000 live births in Baltimore-
Washington infant study. TOF is the 5th most common
defect, accounting for 6.8 percent of all forms of congenital
heart disease, and is the most common form of cyanotic
congenital heart disease in adults. There is a slight male
preponderance. The sibling recurrence rate appears to range
from 2.5 to 3.0 if only one sibling is affected, but it is likely
to increase substantially if more than one sibling is affected.
The estimated recurrence risk to offspring of affected
Fig. 28.1: Schematic diagram showing classical features of
TOF 1-RV infundibular stenosis (thin arrow), 2-large sub-aortic
VSD (thick arrow) with 3-overriding of aorta (biventricular origin)
and 4-right ventricular (RV) hypertrophy. Pulmonary artery is
narrow (PA) (RA—right atrium, LV—left ventricle, LA—left
atrium, Ao—aorta)
parents with TOF is generally higher and ranges from 1.2
to 8.3 percent. Several environmental factors have been
shown specifically to increase the risk of developing TOF;
as for example maternal diabetes mellitus, phenylketonuria,
consumption of retinoic acid and trimethadione. Maternal
diabetes increases the risk by 3 fold.
GENETIC FACTOR
TOF is a prominent and common accompaniment of a
number of genetic syndromes and chromosomal
abnormalities. They are DiGeorge/Velo-cardiofacial
syndrome, Down’s syndrome, Alagille syndrome, Cat’s
eye syndrome, San Luis Valley and Kabuki syndrome,
 258 Clinical Diagnosis of Congenital Heart Disease
CHARGE associations and VACTERL associations. 8 to
23 percent of TOF have 22q deletion; the commonly deleted
region spans more than 2 mega-bases of DNA and more
than 25 genes. Presumably haplo-insufficiency or half of
the dosage of one or more of these genes cause the
phenotype. This group is more prone for mental retardation
and schizophrenia in later life. 10 to 15 percent of Alagille
syndrome has TOF. It is an autosomal dominant disorder
characterized by bile duct paucity in conjunction with
cardiac defect, skeletal and ocular abnormalities, with a
characteristic face. The responsible gene is identified as
Jagged 1, a gene coding for a cell surface protein known to
function as a ligand for the notch transmembrane receptor.
Nkx 2.5 is a disease related gene and is associated with
TOF and ASD.
EMBRYOLOGY
The exact embryologic disturbances giving rise to this
complex is not well understood. However, this condition
results from a single error, i.e. the conus or outlet septum
deviates too far anteriorly, giving rise to two unequal propor-
tional ventricles, one large aorta and a smaller stenotic pulmo-
nary trunk. When septum is displaced too far it also
contributes to the ventricular septal defect, narrowing of
RV infundibulum producing pulmonary stenosis. The degree
of antero-cephalad deviation of outlet septum also determines
the severity of sub-valvular stenosis and overriding of aorta.
Another concept is inadequate development of the right
ventricular conus. This causes infundibular narrowing and
underdevelopment of pulmonary artery and its branches.
This popular hypothesis was postulated by Van Praagh,
but it has some limitations. It is beyond the scope of this
book to discuss step-by-step process giving rise-to TOF.
In a nutshell it is the unequal septation of truncus arteriosus
by spiral septum (bulbo-truncal ridge) giving rise to antero-
cephalad deviation of conal septum resulting in these
anomalies like VSD, overriding of aorta and sub-pulmo-
nary stenosis. As the single embryologic abnormality gives
rise to all components of TOF, it is sometimes referred to
as the “monology of Fallot.”
ABNORMAL ANATOMY
From anatomic point of view the fundamental pathological
defects of TOF are:
1. Right ventricular outflow tract (RVOT) obstruction.
2. Ventricular septal defect.
3. Overriding of aorta.
4. Right ventricular hypertrophy.
RVOT Obstruction
The principal hemodynamic determinant is the degree of
obstruction to pulmonary blood flow. The sites of obstruc-
tions are (i) infundibular obstruction (about 50%), (ii)
valvular obstruction (20-25%), (iii) infundibular and valvular
obstruction (20-25%) and (iv) supravalvular and pulmonary
arterial stenosis (rare).
The RV wall thickness is increased and is equal to LV.
The crista-supraventricularis is often hypertrophied. The
RV infundibulum lies as a definite channel anterior to the
position of the VSD. The infundibular region is smaller with
increased trabeculations; the outflow tract is therefore
obstructed. Pulmonary valve is often malformed, usually
bicuspid or unicuspid and may contribute to pulmonary
stenosis. Pulmonary trunk is thin walled and narrower than
normal. When pulmonary valves are atretic, the condition
is known as pulmonary atresia with VSD, previously
referred to as pseudo-truncus arteriosus.
Ventricular Septal Defect
These are usually large and infra-cristal, sub-aortic or peri-
membranous type. In a few cases supra-cristal, AV canal
type or multiple restrictive types of VSD’s are present.
The important anatomical finding is presence of, fibrous
continuity between mitral and aortic valves at the postero-
inferior rim of the defect. Since VSD is as large as the size
of the aortic orifice in about 80 percent of cases, both
ventricles have equal pressure.
Overriding of Aorta
The ascending aorta is dilated. The aortic orifice overrides
the right ventricle in about 2/3rd of cases (override varies
from 15 to 95%). Biventricular origin of aorta above a large
VSD is very characteristic feature of TOF. Right sided
aortic arch is seen in about 25 percent of cases. Aorta is
wider and inversely proportional to the main pulmonary
arterial size.
 Tetralogy of Fallot
Right Ventricular Hypertrophy
Right ventricular hypertrophy is secondary to right ventricle
being exposed to systemic pressure from the very beginning.
This leads to pure hypertrophy without RV dilatation
(so precordium is silent, not pulsatile).
OTHER ABNORMAL ANATOMICAL FEATURES
Coronary Arterial Anomaly
Coronary artery anomalies are common in TOF. It is very
important from surgical point of view particularly during
total correction. The anomalies are left anterior descending
arteries originating from right sinus of Valsalva or from
right coronary artery, a single coronary artery from right
sinus of Valsalva giving off a left branch that courses
anteriorly to pulmonary trunk; a large conal branch from
right sinus of Valsalva is seen in about 15 percent of cases
and single coronary artery in about 4 percent of cases.
Conduction defects are unusual. AV node although
normally; situated the His bundle and its subsequent
branching course has to be clearly located, otherwise during
surgery there is chance of damaging it and producing
different grades of AV block.
Associated cardiac abnormalities are seen in 40 percent
of patients. These are:
1. Additional VSD, especially muscular in 5 percent of
patients.
2. PFO is found in about 83 percent of heart with TOF
but a true ASD may be present in about 15 percent
(Pentalogy of Fallot).
3. Incidence of persistence of left superior vena cava is
about 11 percent.
4. Coexistence of TOF and atrioventricular septal defect
is often seen in children with trisomy 21.
5. The aortic arch is right sided in approximately 25 percent
of cases.
6. Systemic pulmonary collaterals are associated with TOF
mainly from bronchial arteries. Major aorto-pulmonary
collaterals are present in pulmonary atresia with VSD.
7. Aortic valve disease (AR) may be acquired as a result
of Infective endocarditis, trauma, and progressive aortic
root dilatation.
8. PDA unilateral or bilateral may be present.
259
9. Stenosis of left pulmonary artery is seen in 40 percent
of cases. Besides these associated cardiac anomalies
extra cardiac anomalies are present in 20 to 30 percent
of patients.
HEMODYNAMICS
The principal hemodynamic determinants of clinical
presentation are degree of obstruction to pulmonary blood
flow and systemic vascular resistance which together
control the direction and magnitude of the shunt through
the large VSD. Systemic vascular resistance increases with
increased hematocrit, decreased arterial pH and oxygen
saturation and hypertension in adult survivor.
Fetal Circulation
The presence of these complex lesions does not affect the
normal fetal circulation and do not interfere in umbilical
placental circulation. The fetus grows normally and is well
developed at birth.
Neonatal Circulation
After birth ventilation of lungs leads to decreased pulmonary
vascular resistance and elimination of placental circulation
result in increased systemic vascular resistance. When RV
outflow is obstructed, blood flow to pulmonary circulation
is decreased. If ductus remains patent blood flow to
pulmonary circulation does not decrease and there by
systemic oxygen saturation increased. On the other hand
this increase in oxygen saturation tends to constrict the
ductus. However, it is observed that ductus remains patent
for a longer period than normal in TOF, the reason being
not known. If pulmonary obstruction is severe and ductus
constriction occurs early, systemic oxygen saturation drops
(35-40%), giving rise to deepening of cyanosis. If ductus
patency persists for a longer period there is time for colla-
terals to develop, so that no anoxic crisis develops even
after the ductus is closed. When adequate collaterals
develop, flow to pulmonary circulation increases and the
infant or child becomes acyanotic (from cyanotic phase).
At the cost of this increased pulmonary flow, very few
cases develop CHF.
The severity of clinical manifestation depends on the
relationship of; resistance to systemic and pulmonary
outflow. Accordingly the hemodynamic spectrum is divided
into four phases.
 260 Clinical Diagnosis of Congenital Heart Disease
1. Pre-cyanotic phase: Adequate blood flow to pulmonary
circulation occurs due to mild pulmonary stenosis and
low pulmonary vascular resistance.
2. Early cyanotic phase (transitional or balanced type):
The blood flow to systemic and pulmonary circuit is
balanced, so cyanosis appears only on exertion.
3. Cyanotic phase: Here the blood flow to PA is decreased,
Obstruction to RV outflow is increased and a large right
to left shunt through VSD is established.
4. Extremely cyanotic: Here the pulmonary stenosis is
severe or pulmonary artery is atretic, no flow occurs
through pulmonary valve. All venous blood goes to aorta
from RV. When PDA is closed dilated bronchial arteries
and collaterals arise from aorta and its branches, which
maintains flow to pulmonary artery.
In summary (a) An increase in systemic vascular resis-
tance decreases the right to left shunt thereby, pulmonary
flow is increased and arterial oxygen saturation is increased.
(b) Severity of clinical manifestation depends on the
relationship of the ratio of flow to pulmonary and systemic
circuit (Qp/Qs). (c) Pulmonary flow depends on severity
of RVOT obstruction, flow through the ductus and
bronchial collateral circulation. When pulmonary flow is
excess cyanotic patients become acyanotic and some
develop congestive heart failure and subsequently pulmonary
hypertension. (d) RV is protected from pressure load as
both ventricles have equal pressure because of large VSD,
so congestive heart failure is uncommon.
CLINICAL FEATURES
The classical ways of clinical presentation of TOF during
neonatal period or infancy is generally of three types.
1. Deep cyanosis with no murmur or faint ejection systolic
murmur, which belongs to type having severe RVOT
obstruction.
2. Cyanosis (mild to moderate) with ejection systolic
murmur grade 2-3/6. Belonging to type of cyanotic TOF
who have less severe but significant RVOT obstruction.
3. No cyanosis with prominent ejection systolic murmur
grade 3-4/6 which belong to type of acyanotic TOF
who have mild RVOT obstruction and good pulmonary
flow sometime referred to as pink tetralogy.
Symptoms
The symptoms vary widely depending on the severity of
pulmonary stenosis (PS).
i. TOF with mild PS: Infant grows normally, remain
asymptomatic till late childhood. Fatigability, weakness
and breathlessness are common symptoms on
moderate exertion. Appearance of blue coloration of
nails and lips (cyanosis) on exertion clinch the diagnosis
of TOF (acyanotic or pre-cyanotic type). Rarely the
infants become symptomatic in form of congestive
heart failure due to significant left to right shunt
through a large VSD (as PS is mild). In this clinical
setting large VSD is the clinical diagnosis, until investi-
gations disproves it. In due course of time when these
infants attain childhood age, develop persistent
cyanosis of mild to moderate degree. The possible
causes of delayed appearance of cyanosis are:
a. Progressively increasing obstruction of RVOT.
b. Increased oxygen requirements in these growing
children.
c. Shift of predominant hemoglobin from foetal to
adult type.
ii. TOF with moderate or severe PS: These infants and
children are usually symptomatic from very beginning,
cyanosis is present from infancy. On exertion the infant
gets cyanotic spell. Exertion occurs in infants during
feeding, crying and during defecation. Cyanotic spell
depends on the severity of pulmonary stenosis. General
growth is retarded. These children become easily
fatigued and breathless on mild exertion and adopt a
typical posture (squatting or cross over leg position
on standing). Usually there is no history of repeated
upper respiratory tract infection. In about 1/3rd of
patients cyanosis appears in the first year of life, only
in few cases cyanosis is present from birth when the
obstruction is very severe (severe pulmonary stenosis
or atresia); otherwise most of the children develop
cyanosis and become disabled by the age 5-8 years.
Cyanotic Spell
Cyanotic spell is a typical episode characterized by pro-
gressive increase in rate and depth of respiration culminating
in paroxysmal hyperpnea, deepening cyanosis, limpness,
syncope (transient loss of consciousness), occasionally
convulsions, cerebrovascular accidents or death. Peak
incidence is between 6 months to 2 years of age. Beyond
this age cyanotic spell occurs rarely. As a rule feeding,
crying or defecation precipitates an episode specially when
 Tetralogy of Fallot
the stress occurs shortly after awakening from sleep. But
it can occur without any precipitating factor particularly in
severely cyanotic patients. These episodes are not always
related to degree of cyanosis.
The most possible mechanism is dynamic infundibular
spasm, which diverts the unsaturated venous blood from
the RV into the aorta, thereby increasing cyanosis. This is
still the well-accepted hypothesis postulated by Paul Wood
in 1958. Vulnerable respiratory center is especially sensitive
after prolonged sleep and reacts to sudden rise in cardiac
output provoked by feeding, crying or straining. So heart
rate, cardiac output and venous return increases in face of
a fixed obstruction to RVOT, therefore the right to left
shunt increases. It is reinforced by infundibular spasm.
This increase in shunting results in fall in arterial PO2 and
pH along with rise in PCO2. Poor oxygen supply to body
tissue leads to metabolic acidosis. A sleep sensitive
respiratory center over reacts to these chemical stimuli so
that hyperpnea develops and this hyperpnea increases the
heart rate and cardiac output, so the cycle is perpetuated.
Arrhythmias like paroxysmal supra ventricular tachycardia
and experimental rapid atrial pacing result in an increase in
cardiac output and right to left shunt thereby, a fall in
systemic arterial oxygen saturation and an increase in RVOT
resistance, which precipitates cyanotic spell.
Note: The other anomalies, having pathophysiology like that
of TOF giving rise to cyanotic spell are TGA having VSD with
PS, severe valvular PS with VSD, DORV with PS and single
ventricle with PS.
Squatting
Squatting is very characteristic symptom of tetralogy of
Fallot. It was observed and described by Hunter in 1784. It
is a typical posture the child adopts after mild exertion so
as to get relief from dyspnea. Squatting appears when the
child starts walking, mostly observed in between 2-10 years
of age. The other postures equivalent to squatting are (a)
knee chest position, (b) lying down position, (c) sitting
with legs drawn underneath and (d) crossed leg while
standing. The mechanism of relief of dyspnea is, squatting
causes kinking of femoral artery, thereby increasing
peripheral vascular resistance and diverting more of RV
blood into pulmonary circulation. Now more saturated blood
return to LV, which is ejected to aorta giving rise to increased
261
arterial saturation and relief of dyspnea. Secondly, after
exercise the unsaturated blood from legs is prevented from
reaching the heart by squatting position (kinking of femoral
arteries), hence more of saturated blood from upper body
and from squeezed abdominal viscera (relatively more
saturated) reach the RV and aorta through the VSD, thereby
increasing systemic arterial oxygen saturation.
Other Symptoms
Mental retardation is usually seen due to recurrent hypoxic
episodes and transient ischemic attacks. In some patients
headache is a constant feature, which indicates cerebral
complications of TOF like cerebral venous sinus thrombosis
and brain abscess. Brain abscess is more common after
age of 2 years and if not recognized in correct time, subse-
quently may be fatal. Symptoms of cerebral affection like
cerebral thrombosis on the other hand are more common
within the age of 2 years. Relative anemia rather than poly-
cythemia may be the cause of cerebral thrombosis. Hemo-
ptysis is also a symptom of TOF because of pulmonary
thrombus formation due to decrease rate of pulmonary blood
flow and increased hematocrit. Lungs fields are oligemic,
which favors tubercular infection leading to hemoptysis.
Rarely patients have stridor and wheezing because of
tracheal obstruction due to enlarged aorta. Velopharyngeal
insufficiency is another rare symptom where normal nasal
resonance is lost and it is due to central nervous system
damage because of recurrent cyanotic spells.
Signs
In TOF different types facies are seen. Ocular hyper-
telorism, narrow eye fissures, bloated eyelids, small mouth
and deformed earlobes are the usual facial dysmorphism of
cono-truncal anomalies (TOF, DORV, TGA, Truncus).
Facial dysmorphism resembling Down’s syndrome may
be associated in TOF with endocardial cushion defect.
Poland’s syndrome is characterized by syndactyly, brachy-
dactyly and hypoplasia of the involved hand in absence of
one pectoralis major muscle usually the right one and
Goldenhar syndrome (oculoauriculovertebral dysplasia) can
be a part of TOF. Besides all these, general physical under-
development is also associated with TOF. Depending on
severity of RVOT obstruction, cyanosis varies from absent
to severe. Uniform clubbing of fingers and toes are seen
during late infancy and beyond.
 262 Clinical Diagnosis of Congenital Heart Disease
Arterial pulse in TOF is normal in character and volume.
A brisk arterial pulse with wide pulse pressure in TOF points
to either large systemic to pulmonary collaterals or it may
be due to presence of associated aortic regurgitation.
Measurement of brachial blood pressure is
important because it also gives accurate estimate of
gradient across RVOT. As brachial arterial systolic
pressure is equal to left ventricular systolic pressure that is
equal to RV systolic pressure due to presence of large VSD.
In TOF the pulmonary arterial pressure is invariably normal
remaining between 15 to 25 mm Hg. Therefore deducting
this value from brachial systolic pressure, gives an
approximate of RVOT gradient.
Jugular venous pressures and its waveforms are normal.
The neonatal RV has the inherent capacity to eject against
systemic resistance, which continues even after the birth
because of the presence of large nonrestrictive VSD.
Sometimes the a-wave is prominent in late infancy, the
reason being the accessory tricuspid leaflet tissue which
partially occludes the VSD, raises RV pressure to supra-
systemic level that requires forceful RA contraction for its
optimal filling; making the ‘a’ wave prominent. The other
situation is the adult survivor of uncorrected TOF, where
the patient develops systemic hypertension thereby raising
the RV pressure and a prominent ‘a’ wave. Rarely left jugular
venous pulsation is more prominent because of the persis-
tence of left superior vena cava. When RV fails in adult
TOF, it produces TR and prominent ‘V’ wave appear in
JVP.
Quiet precordium is characteristic of TOF. Very often
a slight RV impulse that is confined to the left lower sternal
edge or subxiphoid area is all that is perceptible. This quality
is like that of normal neonatal RV impulse but it is abnormal
in the sense that it persists for the rest of the life. Second
heart sound is palpable in the second left intercostal space,
which is the aortic rather than pulmonary component of
second sound (because aorta is often dilated and closure to
the chest wall, PA is hypoplastic or atretic). Thrill is not a
feature of TOF or pulmonary atresia. The presence of
thrill in TOF suggests that (1) RVOT obstruction is mild,
(2) VSD is restrictive or (3) made restrictive by accessory
tricuspid leaflet tissue. When thrill is present, it confines
typically to the third left intercostal space because the
obstruction is typically infundibular or further down because
of double chamber RV where the obstruction is mid-
cavitary. Harrison’s sulcus may be seen because of chronic
dyspnea. Sometimes right sternoclavicular joint pulsation
is seen because of right aortic arch.
First heart sound is normal, single or closely split. Second
heart sound is usually single, sometimes loud enough to be
palpable. It is the aortic component that is heard. Pulmonic
component is either soft or absent. That is because stenosis
is infundibular and PA diastolic pressure is very low to
cause abrupt closure of the pulmonary valve. Rarely the
second sound in TOF is split with a soft pulmonary
component. This situation is seen when obstruction is mild
and principally valvular. Third or fourth heart sounds in
TOF are very rare and it only occurs when one or the other
ventricle fails. Ejection click in TOF is a marker of severe
RVOT obstruction or pulmonary atresia. Invariably it is
aortic due to aortic root dilatation and is better heard at the
second right intercostal space. It may be heard in the second
left intercostal space or more towards the apex. It is
respiratory phasic, selectively being more prominent in
expiration than inspiration in spite being aortic in origin.
Pulmonary ejection click is absent because: (i) Stenosis is
infundibular, (ii) There is no post-stenotic dilatation of PA,
(iii) Thickened pulmonary leaflet does not cause rapid
opening of valve.
Ejection systolic murmur of TOF is for all practical
purpose arises from RVOT but not at the VSD level and is
more prominent in third intercostal space. The length and
the intensity of the murmur is inversely proportional to the
severity of the stenosis. Another systolic murmur in adult
survivor is due to RV failure producing tricuspid regur-
gitation. Diastolic murmur is not a feature of uncomplicated
or simple TOF. If early diastolic murmur in infancy is audible
it may be due to pulmonary regurgitation (absent pulmonary
valve). When early diastolic murmur is audible in adolescent
and adults it is due to aortic regurgitation (large VSD causing
prolapse of aortic valve). A middiastolic flow rumble may
be heard with large pulmonary flow. Continuous murmur
is not a part of simple TOF. Its presence indicates major
aorto pulmonary collaterals or PDA. It is because of non-
bronchial systemic collaterals, hence is not a feature of
TOF but is seen in 80 percent of cases of pulmonary atresia
with VSD patients. It is heard beneath the clavicles, in the
back, in the left or right side of the chest. Sometimes
 Tetralogy of Fallot
murmurs are heard due to surgically created systemic to
pulmonary shunt indicating patency of shunt.
Adult TOF
Adult survivors of uncorrected TOF are not uncommon in
our country due to lack of facility for diagnosis and treat-
ment. They are different in several aspects from the same
in infant and children. Only a minority of the patients survive
up to the adulthood (10% up to the 21 years of the age). A
comparatively favorable anatomic abnormality resulting in
a larger pulmonary flow and only mild arterial desaturation
along with higher incidence of aorto-pulmonary collaterals
allows this unusual survival. Males predominate, ratio being
2:1. Dyspnea is the commonest symptom (95%). PND is
rare and is related to the severity of associated aortic
regurgitation.
Note: The incidence of congestive heart failure is high up to
16 percent, but it is uncommon in infants and children. CHF if
present is attributed to associated aortic regurgitation, systemic
hypertension, relative anemia, infective endocarditis and
myocardial disease.
Continuous murmur is more common and is found in
16 percent of cases especially over the infra-scapular and
axillary area (due to systemic to pulmonary collaterals).
Aortic regurgitation is seen in 7 percent of cases and is
either due to infective endocarditis, congenital bicuspid aortic
valve or varying degree of prolapse of right aortic cusp.
Cardiomegaly is distinctly common in adult Tetralogy (25%)
which is again due to aortic or pulmonary regurgitation,
hypertension, infective endocarditis, and systemic to
pulmonary collaterals. On catheterization RV end-diastolic
pressure is found to be elevated in 23 percent of cases, the
contributing factors are the same as that of congestive heart
failure.
Terminologies associated with Tetralogy
1. Pink tetralogy: One third of cases have mild pulmonary
valvular obstruction with large VSD, allowing sufficient
pulmonary flow. So that cyanosis is absent. Pre-cyanotic
phase of TOF is different from acyanotic where
cyanosis develops in a matter of weeks or months.
2. Pulmonary atresia with VSD: Previously known as
pseudo-truncus is the extreme end of the spectrum of
TOF having complete obstruction of RVOT.
263
3. Monology of fallot: The single embryologic defect of
antero-cephalad deviation of conal septum giving rise
to tetralogy is referred to as Monology of Fallot (Van
Praagh).
4. Triology of fallot: Cases of severe valvular pulmonary
stenosis with intact interventricular septum sometimes
develop right to left shunt across a patent foramen ovale
or true ASD known as triology (PS + RV hypertrophy
+ ASD/PFO).
5. Pentalogy of fallot: When the tetralogy of Fallot is
associated with atrial septal defect, it is referred to as
Pentalogy.
INVESTIGATIONS
Electrocardiography
Sinus rhythm is almost always present. PR interval is normal
as the AV conduction is normal. P wave is peaked in lead II
but tall P, broad or notched P waves are uncommon in
infancy and childhood as right atrium is not pressure
overloaded and left atrium is chronically under filled. RA
enlargement (P in lead II > 3 mm) is a feature of adult
survivor. Right axis deviation (+90° to +150° or even 180)
is common. Depolarization is clockwise that is rS complex
in Lead I and tall R in lead II and III. When left axis and
counter clockwise depolarization is present suggests
associated AV canal defect. RVH (tall R in V3R or V1
and prominent S in V5 or V6), inconspicuous q in lateral
lead and rapid transition that is tall monophasic R in
V 1 transforming into rS in V 2 are characteristic
features (Fig. 28.2). In acyanotic TOF combined
ventricular hypertrophy may be present. T wave is positive
or negative in right precordial leads in equal frequency and
seldom extreme RVH is seen. Presence and the magnitude
of R in V5 or V6 is the marker of left sided filling and volume
status. Ventricular premature contractions (VPC’s) are
uncommon before the age of 8 years. The incidence
increases with age and the same is 58 percent above the
age of 16 years. RBBB is a common finding in postoperative
cases the incidence of which is about 40 percent. Left
anterior fascicular block is seen in 8 to 22 percent cases
after surgery.
Radiography
The cardiac size is normal to decreased (normal
cardiothoracic ratio in infants is 55% compared to 50% in
 264 Clinical Diagnosis of Congenital Heart Disease
Fig. 28.2: ECG of TOF showing right axis deviation, right atrial
enlargement, right ventricular hypertrophy with typical early
transition in V2
Fig. 28.3: Chest X-ray of TOF showing typical boot shaped
heart (Coeur en sabot), absence of MPA shadow and
decreased pulmonary vascularity
adults). Boot-shaped heart (Coeur en sabot) is typically
seen (Fig. 28.3). It is described as small heart, concave
pulmonary bay and upturned apex (absent or hypo plastic
MPA, horizontal IVS producing straight upper portion and
convex or rounded infero-lateral portion of the LV apex).
The pulmonary vascular markings are typically normal or
diminished (mid and lateral two-third of the lung is devoid
of vascular markings) Asymmetrical lung vascularity, left
being more than right may be seen because of preferential
jet flow to left lung is seen. Rarely absent left pulmonary
artery can give rise to less vascularity, reduced volume of
left lung and leftward shift of the mediastinum. The
characteristic lacy pattern of the lung vascularity is seen in
severe cases because of collateral dependent pulmonary
blood flow. Aortic arch is right sided in 25 percent of the
patients producing right-sided indentation over the trachea.
Post stenotic dilatation is never a part of pulmonary stenosis
in TOF unlike in valvar stenosis.
Echocardiography
This is the imaging modality of choice for the diagnosis.
Objectives of echocardiography in TOF are: (i) to establish
the diagnosis, (ii) to find out suitability of surgical
intervention, (iii) to assess the adequacy of surgery
postoperatively. Two-dimensional echocardiography with
continuous and color Doppler is enough to assess TOF in
individual case. Parasternal long axis view detects the
presence of VSD and proper angulations of the transducer
can show the degree of override of aorta and the presence
of aorto-mitral fibrous continuity (Fig. 28.4). Normally
interventricular septum (IVS) is continuous with aorta
(anterior wall). In TOF there is a gap between IVS and
aortic root but aortic mitral continuity is maintained.
Additional VSD can also be mapped in this view. Short axis
view as well as subcostal view both are excellent for
detecting the level of RVOT obstruction (Fig. 28.5A). The
actual size of MPA and both LPA and RPA are important in
Fig. 28.4: Echocardiogram of TOF A parasternal long axis
view showing large sub-aortic VSD with 50 percent overriding
in the left panel, right panel shows color flow from both
ventricles (arrows) (Ao—aorta, LA—left atrium, LV—left
ventricle, RV—right ventricle)
 Tetralogy of Fallot
Figs 28.5A and B: Echocardiography of TOF (A) parasternal
short axis view, left panel shows narrow RVOT, thickened
pulmonary valve and narrow main pulmonary artery, right
panel shows turbulent flow in pulmonary artery, (B) continuous
Doppler interrogation reveals significant gradient across RVOT
(Ao—aorta, PV—pulmonary valve, MPA—main pulmonary
artery, RVOT—right ventricular outflow tract)
deciding for the feasibility of surgical closure. The RPA
size is better judged when it crosses the arch under it from
suprasternal view. Continuous wave Doppler can assess
the severity of pulmonary stenosis by measuring the
gradient across RVOT (Fig. 28.5B). Color Doppler can
detect the site of obstruction by showing the flow
turbulence.
Postoperatively absence of VSD, presence of not more
than mild PS and the presence of not more than mild to
moderate PR connotes adequate repair. The presence or
absence of RV dilatation and its contractility gives better
idea about the long-term results after surgical repair. The
presence of severe PR after surgical repair is uncommon
but needs close observation and long-term surveillance.
265
Catheterization and Angiography
With improving quality of echocardiography, invasive
preoperative procedures are performed less frequently.
Objectives of cardiac catheterization are: (i) confirmation
of the diagnosis, (ii) determination of numbers, size, and
relation of VSDs to great arteries, (iii) to know other
associated cardiac abnormalities, (iv) to delineate anatomy
of RVOT, MPA or branch pulmonary artery stenosis,
(v) demonstration of coronary artery anatomy especially
origin of left anterior descending artery and its course,
(vi) determination of sidedness of aortic arch and its
branches and (vii) demonstration of aorto pulmonary
collaterals if any. Systemic desaturation is the rule and is
dependent on the severity of RVOT obstruction. RV, LV
and Aortic systolic pressures are essentially the same. If
PA is entered then its pressure is usually normal or low.
Careful pullback from PA to RV will detect the site and
severity of stenosis. It is usually unnecessary and even
dangerous to enter into PA especially in severely cyanotic
patients because it may precipitate an episode of cyanotic
spell by inducing infundibular spasm.
Right ventriculography in PA cranial or lateral view can
establish the diagnosis and accurately show RVOT anatomy
(Fig. 28.6). Left ventriculography in LAO cranial view can
visualize the number and size of VSDs and also detects the
degree of override of aorta. Aortic angiography in RAO or
LAO views with or without cranial angulations can detect
accurately the coronary anomalies, sidedness of aortic arch
and its branches. Descending thoracic angiography is
usually unnecessary to delineate collaterals in TOF patients
but is important in case of pulmonary atresia with VSD.
Angiography can disclose certain associations like branch
PA stenosis in 5 to 10 percent of cases, pulmonary atresia
with PDA dependent pulmonary flow in 5 to 10 percent,
additional muscular VSDs in 5 to 10 percent, aorto pulmo-
nary collaterals 5 to 10 percent and coronary arterial
anomalies like LAD arising from right sinus of Valsalva in 1
to 2 percent of cases.
Kugelberge’s classification is an angiocardiographic
assessment of cases for early surgical repair. Detailed
description of this classification is beyond the scope of this
book. There are some indices, which can be calculated
either by echocardiography or angiography to decide the
need for a trans-annular patch. They are: (1) Blackstone
and Kirklin index, (2) Mc Goon index, (3) Nakata index
and (4) Natio index.
 266 Clinical Diagnosis of Congenital Heart Disease
Fig. 28.6: RV angiocardiography showing simultaneous
opacification of PA and Ao (through VSD), valvular and
infundibular stenosis (long arrows) and right aortic arch
DIAGNOSIS
History of cyanosis and anoxic spells in infancy and toddler
age group are suggestive of this anomaly. Squatting is
another typical feature during childhood. Cyanosis, clubbing,
silent precordium, no cardiomegaly, single second heart
sound (A2) and ejection systolic murmur 2-3/6 over upper
left sternal border are classical signs of TOF. If deep
cyanosis and faint or no murmur is present with prominent
aortic ejection click, severe TOF is suspected. X-ray picture
shows typical of “Coeur en sabot” shape contour and
decreased pulmonary vascularity. ECG shows right axis
deviation and right ventricular hypertrophy.
Pre-cyanotic or acyanotic TOF present like large VSD,
these children may present with CHF or recurrent respiratory
tract infection. An ejection systolic murmur grade 3-4/6
over left second and third space with splitting of S2 or
sometimes only single second sound with ECG evidence
of RVH are suggestive of acyanotic TOF. If right-sided
aortic arch is present it also goes in favor of TOF. 2D
echocardiography with Doppler confirms the diagnosis.
Differential Diagnosis
TOF is to be differentiated from other anomalies charac-
terized by cyanosis, absent or minimum cardiomegaly, silent
precordium, single second sound and RVOT murmur. These
are DORV with PS, TGA with VSD and PS, corrected
TGA with VSD and PS, single ventricle with PS, VSD
with acquired infundibular stenosis and VSD with valvular
PS. These conditions have hemodynamics similar to TOF;
therefore they belong to “Tetralogy physiology” group.
Acyanotic TOF is to be differentiated from isolated VSD.
DORV with PS
The differentiating points are long systolic murmur in left
sternal border due to VSD, cardiomegaly on X-ray without
a typical boot shape, ECG showing prolonged PR interval,
counter clock wise loop and broad slurred ‘S’ in I, avL,
V5, V6. Echocardiography shows mitral aortic discontinuity.
TGA with VSD and PS
TGA is seen mainly in males with large birth weight and
cyanosis is present from very birth (unlike TOF). Cyanotic
spell and squatting (if patient survives) are uncommon. Pulse
is of high-volume (due to peripheral vasodilatation), left
parasternal heave is present (not in TOF), JVP shows
prominent a-wave, second sound is split with both
components audible, harsh ejection systolic murmur over
upper left parasternal border (grade 3-4/6) is present, but
no ejection click is audible (relatively common in TOF).
ECG shows marked right axis deviation. X-ray picture
shows typical egg on side contour with narrow pedicle and
relatively increased vascularity. It is again echocardiography
confirms the diagnosis.
Single Ventricle with PS
Cyanosis is present from birth. Cyanotic spells are often
present, apex is of LV type (unlike TOF), S2 is loud with
A2 being very prominent, long systolic murmur (grade
3-4 6) over left mid-sternal border with thrill is usually
present. X-ray picture shows prominent convexity of left
supracardiac border, which is continuous with shadow of
the great vessels in PA view. On fluoroscopy well marked
pulsation of great vessels are seen (no pulsation is seen in
TOF). ECG may show left axis deviation (unlike TOF)
with LVH or stereo typed complexes. Echocardiography
and angiocardiography confirms the diagnosis.
 Tetralogy of Fallot
Natural History
Without surgical intervention the survival in TOF is 66
percent at 1 year, 50 percent at 3 years, 25 percent at 10
years of life. Thereafter attrition rate is 6.4 percent per
year. 11 percent are alive at 20 years, 6 percent at 30 years
and 3 percent at 40 years of age. Infants with acyanotic
TOF gradually become cyanotic and those were already
cyanotic, they worsen. Polycythemia develops secondary
to cyanosis. Relative iron deficiency is a recognized
complication even with polycythemia. Growth retardation
is common with severe TOF. Brain abscess and CVA are
common complications in older children and adults.
Infective endocarditis is rare. AR develops in adult survi-
vors. Coagulopathy is a late complication of long standing
cyanosis. Successful surgical intervention before 18 months
of age can obviates all these sequels and complications.
GUIDELINES FOR MANAGEMENT OF TOF
Medical Management
It is mainly confined to management of cyanotic spell and
CHF. CHF (mainly seen in adults) is treated with conven-
tional decongestive therapy. Cyanotic spells can be life
threatening, therefore managed as a medical emergency.
The main steps of management are:
1. Immediate positional change (knee-chest position or
squatting position to increase SVR).
2. Oxygen inhalation to improve saturation.
3. Sedation—preferably morphine sulphate and sometimes
ketamine is used (to suppress respiratory centre and so
decrease hyperpnea).
4. Sodium bicarbonate—to combat acidosis.
5. Volume expansion with IV fluids.
6. Propranolol—oral route or in emergency IV propranolol
(0.5 to 1.5 mg/kg every 6 hours) is used (to reduce
infundibular spasm and increase SVR by peripheral
vasoconstriction).
The transcatheter therapy (Balloon dilation of RV
outflow tract) is now gaining popularity, as immediately it
increases the pulmonary flow and systemic oxygen
saturation in sick infants, although this procedure has some
disadvantages like chances of pulmonary artery tear or
annular tear. When these infants or the young children
become stable, they are advised for surgery.
267
Surgical Management
The definite management is surgery. Majority of patients
have adequate saturation to undergo an elective repair.
Persistent hypoxemia or recurrences of cyanotic spells are
also indications for surgery. Asymptomatic children with
uncomplicated morphology should have elective repair
between 3 to 24 months. Very young infants with compli-
cated morphology can be managed with a staged repair
(usually modified Blalock-Taussig or Gore-Tex shunt).
Indication for shunt procedure vary from centers to centers,
but many centres now perform single stage, early complete
repair to avoid prolonged RVOT obstruction and prolonged
cyanosis. The operative strategy depends on the pulmonary
artery anatomy. Total repair (patch closure of VSD and
resection of infundibular tissue) is advised under
cardiopulmonary bypass. Surgery is rewarding, the mortality
rate is less than 3 percent in spite of many postoperative
complications.
SALIENT FEATURES
1. TOF is the commonest cyanotic heart disease beyond
infancy. It has four components, 1. VSD, 2. Infundibular
PS, 3. Overriding of aorta and 4. RVH.
2. Clinical manifestations mainly depend on the severity
of RVOT obstruction. Acyanotic TOF (pink Fallot) is due
to good pulmonary flow from mild RVOT obstruction
where on exertion cyanosis appears. Deep cyanosis
indicates severe RVOT obstruction.
3. Symptoms like squatting and cyanotic spells are
hallmarks of diagnosis of TOF.
4. Clinical findings like cyanosis with clubbing, silent
precordium, S2 single (only A2), ESM 2-3/6 over upper
LPSB suggest TOF. Intensity of pulmonary systolic
murmur is inversely proportional to the severity of RVOT
obstruction.
5. ECG shows right axis, RVH with early transition zone
and no q in V5, V6
6. X-ray is typical with Coeur-en-Sabot (boot) shape and
decreased pulmonary vascularity.
7. Echocardiography is diagnostic.
8. Cardiac catheterization and angio cardiography is done
before surgery specially to delineate coronary artery
and associated anomalies.
9. Medical management is mainly for cyanotic spell. Total
corrective surgery is the definitive treatment.
 268 Clinical Diagnosis of Congenital Heart Disease
Absent Pulmonary Valve Syndrome
INTRODUCTION
This syndrome consists of completely absent pulmonary
valve leaflets or having rudimentary valve tissue around
pulmonary annulus, which is quite narrow. This anomaly
is very often associated with tetralogy of Fallot (TOF) and
basically belongs to cyanotic group of diseases.
HISTORY
Absent pulmonary valve syndrome was first reported by
Chevers in 1847.
INCIDENCE
Isolated absent pulmonary valve is extremely rare. It is
usually associated with TOF, but 2-6 percent cases of TOF
are associated with absent pulmonary valve.
EMBRYOLOGY
There is anterior and cephalad displacements of outlet
septum like TOF. In addition there is failure of development
of pulmonary valve. It is postulated that there may be some
developmental relationship between ductus arteriosus and
absent pulmonary valve syndrome. When there is agenesis
of ductus low resistance outlet to pulmonary artery is cut
off (PA through ductus to descending aorta and then to
placental circulation). In addition pulmonary artery receives
the increased stroke volume secondary to pulmonary
regurgitation. In absence of ductal outlet, pulmonary arteries
are distended in utero, which is responsible for abnormal
branching of peripheral pulmonary arteries.
ASSOCIATED LESION
Besides TOF absent pulmonary valve has been reported
with ASD, DORV, tricuspid atresia, endocardial cushion
defect, TGA, aortic origin or absence of one pulmonary
BR Mishra
artery, DiGeorge syndrome and chromosomal abnormalities
22q11, 6q and 7q.
ABNORMAL ANATOMY
Pulmonary regurgitation occurs due to absent pulmonary
valve which leads to RV volume overload. Anatomical
arrangement is that of TOF, but the RV outflow tract is
frequently dilated. The site of obstruction to RV outflow is
the pulmonary annulus. Main pulmonary artery and its
branches are dilated, sometimes aneurysmal; the charac-
teristic feature is abnormal branching of both hilar and
peripheral pulmonary arteries. These are multiple dilated
vessels, which not only surround but also compress the
adjoining bronchi.
CLINICAL FEATURES
The presenting features in infants are cyanosis and CHF.
Respiratory distress is common due to airway obstruction
caused by abnormal pulmonary arteries producing infection,
atelectasis and emphysema. On examination left parasternal
heave and pulsatile precordium due to RV volume overload
is well felt. On auscultation first heart sound is normally
heard, second heart sound is single and soft due to inter
position of dilated PA, ejection systolic murmur is loud,
harsh of grade 3-4/6 over pulmonary area with diastolic
murmur, that is low pitched, rough crescendo-decrescendo
over left third sternal border due to pulmonary regurgitation.
Both murmurs together give rise to a characteristic to and
fro murmur (sawing wood like).
INVESTIGATIONS
Electrocardiography
When absent PV is associated in TOF, ECG shows more
of right axis deviation with right atrial enlargement (not
seen in TOF) and evidence of right ventricular hypertrophy
 Absent Pulmonary Valve Syndrome 269

characterized by tall monophasic ‘R’ waves extending

beyond V1 (no early transition).

Radiography
X-ray picture in TOF with absent pulmonary valve is
characteristic. Main pulmonary artery hugely dilated and
its branches show aneurysmal dilatations (Fig. 28.7). The
RV outflow tract is also dilated, sometimes producing a
bulge from left heart border. Right ventricle is always dilated,
as is the right atrium. Pulmonary vascularity is usually
normal. Emphysema, atelectasis often makes assessment
of vascularity difficult.

Echocardiography
Echocardiography is diagnostic. Pulmonary valve is not
visualized. MPA is dilated with narrowing of annulus. RV
is dilated with paradoxical septal motion. Features of TOF
can be detected, that is VSD in parasternal long axis view
with over-ridding of aorta. Color Doppler imaging shows
systolic flow and retrograde diastolic flow from pulmonary
artery, so one can calculate gradient across RVOT. Absent
pulmonary valve syndrome can be detected during fetal
life.
Catheterization and Angiocardiography
Cardiac catheterization and angiocardiography is not
required for diagnosis. However when angiocardiography
is done, RV angio reveal typical “Mickey mouse” ears
appearance due to dilated MPA and its branches. Contrast
injected in MPA shows annular stenosis, absence of valve
and the degree of pulmonary regurgitation. The course of
the left anterior descending coronary artery has to be
ascertained before surgery. Presence of right aortic arch is
common.
DIAGNOSIS
Infants with respiratory distress, mild cyanosis and on
examination having cardiomegaly, single second heart sound
and a prominent to and fro murmur (systolic and diastolic)
over left precordial area with a typical X-ray appearance
give the clinical impression of absent pulmonary valve with
TOF.
Fig. 28.7: Chest X-ray of absent pulmonary valve showing
cardiomegaly, hugely dilated right pulmonary artery (arrow)
DIFFERENTIAL DIAGNOSIS
Patients having to and fro murmur come under differential
diagnosis of absent pulmonary valve syndrome. The
common conditions are VSD with absent pulmonary valve,
VSD with AR.
NATURAL HISTORY
In early infancy bronchial obstruction produces respiratory
distress syndrome. RV volume overload giving rise to RV
failure is also common in early infancy. Unless it is treated
efficiently in neonatal period, the mortality rate is very high.
Those who survive the crisis gradually stabilize by one year
because of maturational changes in bronchial tree. Decrease
in pulmonary vascular resistance improves pulmonary blood
flow with decrease in right to left shunt. Therefore cyanosis
also improves after infancy.
GUIDELINES FOR MANAGEMENT
Medical management of these patients having respiratory
infection and its complication like atelectasis,
bronchopneumonia and hypoxemia are to be treated
preferably in an advanced intensive care unit. When these
infants becomes stable, they are advised for surgery.
 270 Clinical Diagnosis of Congenital Heart Disease
The type of surgery depend on the cause of obstruction
causing respiratory problems. Pulmonary artery banding
or gore-tex stents are sometime helpful. Aortic homographs
are used for repair of right ventricular outflow tract and
endobronchial stents are used to keep airways patent.
SALIENT FEATURES
1. Absent pulmonary valve is commonly associated with
TOF.
2. Main pulmonary artery is aneurysmally dilated with
abnormal multiple dilated branches of both hilar and
Pulmonary Stenosis with Interatrial Septal Defect
INTRODUCTION
Pulmonary stenosis with intact interventricular septum and
inter atrial septal defect was first described by Morgagni in
1769 and named as “Trilogie de Fallot” (that is Tetralogy
of Fallot) by Joly. The present chapter describes mainly
severe pulmonary stenosis with right to left shunt at atrial
level. When there is an inter atrial communication, the site
of PS is invariably valvular. That is why this anomaly
belongs to complicated pulmonary stenosis group of
diseases. Large ASD with mild to moderate PS and left to
right shunt has been discussed in chapter on ASD.
Besides this common combination the rarer ones are
pulmonary sub-infundibular stenosis or pulmonary artery
stenosis with septum primum defect.
HEMODYNAMICS
The hemodynamic events mainly depend on the severity of
pulmonary stenosis and size of atrial septal defect. Most of
the patients having severe pulmonary stenosis with stretched
or patent foramen ovale (PFO) develop right to left shunt
(Fig. 28.8A) and other patients with mild pulmonary stenosis
peripheral pulmonary arteries that surround and
compress the adjoining bronchi.
3. Infants present with respiratory distress and CHF (Unlike
TOF), On examination cyanosis, single S2, a to and fro
murmur (systolic grade 3-4/6 combined with a long low
pitched diastolic murmur), X-ray finding of cardiomegaly,
huge main and branch pulmonary artery shadow are
suggestive of absent pulmonary valve.
4. Echocardiography shows features of TOF with dilated
RA, RV and pulmonary artery, absence of pulmonary
valve, annular narrowing and pulmonary regurgitation.
5. Medical management is mainly for respiratory infection
and CHF, but surgery is definitive way of treatment.
M Satpathy
and large atrial septal defect have left to right shunt
(Fig. 28.8B). RV systolic pressure depends on severity of
PS because interventricular septum is intact in this anomaly.
RA has to contract forcibly against increased RV systolic
pressure, which give rise to prominent or giant ‘a’ wave in
JVP along with auscultatory sign of RV S4. Chronic pressure
load dilates the right atrium and stretches the foramen ovale.
Increase RA pressure leads to right to left shunt through
foramen ovale or even through the secundum type of atrial
septal defect. Right to left shunt across the interatrial septum
produces systemic desaturation giving rise to central
cyanosis. When RV fails due to after-load mismatch it gives
rise to TR. In this hemodynamic situation blood flow from
RV to pulmonary circulation is decreased.
CLINICAL FEATURES
These patients present with symptoms and signs similar to
isolated severe pulmonary stenosis. Cyanosis of varying
degree is present. Some infants develop early deep cyanosis
and features of right ventricular failure due to critical PS
and they require immediate intervention. In some cases
 Pulmonary Stenosis with Interatrial Septal Defect 271

Figs 28.8A and B: Schematic diagram of PS with ASD, A- Severe PS (bold arrow) with small ASD/Patent foramen ovale
with right to left shunt across ASD (small arrow). B-Mild PS with large ASD with left to right shunt across ASD (small arrow)
(LA—left atrium, RA—right atrium, LV—left ventricle, RV—right ventricle, Ao—aorta, PA—pulmonary artery)

cyanosis becomes apparent on exertion. These children may

develop characteristically moon like facies and remain
asymptomatic even up to adulthood.
On examination parasternal heave, presystolic impulse
over left lower sternal border (due to increased RA
contraction) and systolic thrill over left upper sternal border
are felt. On auscultation wide splitting S2 with soft P2
component, pulmonary ejection click, right ventricular S4,
delayed peaking ejection systolic murmur of grade 4-5/6
over left upper sternal border are audible. In due course of
time, a soft pansystolic murmur of tricuspid regurgitation
appears indicating RV failure.

INVESTIGATIONS
Electrocardiography
The electrocardiogram in PS with right to left atrial shunt
is almost similar to isolated sever PS (Fig. 28.9)
a. Right atrial enlargement (Tall peaked P was in lead II,
V1, V2)
b. PR interval remains normal. When there is significant
right atrial enlargement P wave duration and PR interval
may be prolonged.
c. Right axis deviation, right ventricular hypertrophy with
tall R wave in V1, V2 and deep S wave in V5, V6 are
usual findings. There may be qR pattern in V1 V 2
signifying supra systemic right ventricular pressure with
Fig. 28.9: ECG of ASD with PS showing right axis deviation,
right ventricular hypertrophy with rsR’ in V1
deep T inversion up to V4. When there is a true ASD
Rsr’ or rsR’ (incomplete RBBB) may be seen.
Radiography
In pulmonary stenosis with right to left interatrial shunt the
X-ray picture is similar to isolated severe PS. The cardiac
size is moderately increased; sometimes there is marked
cardiomegaly due to enlargement of right atrium and
ventricle when RV failure occurs. The main pulmonary
artery is dilated (post stenotic dilation). The lung fields are
oligemic as there is decreased pulmonary blood flow. The
 272 Clinical Diagnosis of Congenital Heart Disease
pulmonary oligemia is much more pronounced in the
presence of right ventricular failure.
Echocardiography
2D echocardiography with continuous Doppler and color
Doppler give the anatomic and physiologic diagnosis. The
systolic doming and thickening of pulmonary valve are seen
in parasternal short axis view. The gradient across the
pulmonary valve can be determined by the continuous wave
Doppler, which well correlates with invasive pressure
gradient measurement. The interatrial septal defect can be
best visualized in subcostal four-chamber view and the
direction of blood flow can be determined by the color
Doppler. The right ventricular hypertrophy, function and
severity of tricuspid regurgitation are obtained by echo
cardiographic examination. The pulmonary annulus diameter
measured by the 2D echo correlates well with angio-
graphically measured diameter of pulmonary annulus. So
for pulmonary balloon valvotomy the balloon size can be
determined by echo examination. 2D echo and TEE are
helpful in assessing the accuracy of device closure of ASD.
Cardiac Catheterization and Angiocardiography
Cardiac catheterization and angiocardiography is not usually
required as echocardiography is adequate for diagnosis.
Catheterization and angio findings are similar to that of severe
valvular PS. Here systemic desaturation is noted where as
in large ASD with mild PS although greater gradient is
obtained across the pulmonary valve, there is no systemic
desaturation.
Diagnosis
When pulmonary stenosis is severe with patent foramen
ovale or with an atrial septal defect, a right to left shunt is
established. These infants develop cyanosis. JVP shows
giant ‘a’ wave, RV impulse and a prominent systolic thrill
palpable over left upper sternal border. Second heart sound
is widely split with diminished P2, pulmonary ejection click
is present and ejection systolic murmur 3-4/6 is audible
over left upper sternal border. ECG showing right axis with
RVH, chest X-ray having prominent MPA with oligemic
lung fields and 2D echocardiographic evidence of systolic
doming of pulmonary valve with color Doppler flow
detecting severity of pulmonary stenosis and size of the
ASD/PFO give the final diagnosis.
DIFFERENTIAL DIAGNOSIS
Large ASD with mild PS
These patients present like an isolated large ASD. Presence
of systolic thrill over upper left sternal border and ejection
click arose clinical suspicion of presence of pulmonary
stenosis (not present in isolated large ASD). Echocardio-
graphy confirms the diagnosis.
Severe Valvular Pulmonary Stenosis
These patients are symptomatic from childhood. Cyanosis
is invariably present. Systolic thrill over upper left sternal
border, diminished P2, pulmonary ejection click and rough
ejection systolic murmur over pulmonary area give the
clinical diagnosis of severe valvular PS.
GUIDELINES FOR MANAGEMENT
Management again depends on whether PS is severe or
ASD is large. In severe PS and right to left shunt across a
PFO, early pulmonary balloon valvotomy is usually
performed. Surgical valvotomy is advised when balloon
valvotomy fails or could not be done. In large ASD with
mild to moderate PS, the management is aimed at closing
the ASD and following up the patient by echocardiography
to note for progression of pulmonary stenosis. If PS is
progressive pulmonary valvotomy is advised under
cardiopulmonary bypass.
SALIENT FEATURES
1. Severe valvular pulmonary stenosis, intact
interventricular septum with right to left shunt at atrial
level is known as ‘Tetralogy of Fallot’.
2. These patients present with symptoms and signs similar
to isolated severe pulmonary stenosis, in addition there
is central cyanosis.
3. ECG and chest X-ray resemble severe valvular PS,
Echocardiography demonstrates valvular pulmonary
stenosis with its severity and color Doppler shows the
flow pattern across the atrial septal defect.
4. Although surgery is the definitive treatment, recently
catheter based interventions are also considered.
 29 Pulmonary Atresia with
Ventricular Septal Defect
V Gouthami, M Satpathy

INTRODUCTION
Pulmonary atresia with ventricular septal defect (PA-VSD)
is an extremely heterogeneous and complex cardiac
malformation. It was initially considered as a type IV truncus
arteriosus (Pseudo-truncus).
PA-VSD is defined as a group of cardiac malformations
where there is lack of luminal continuity and absence of
blood flow from either ventricle to pulmonary artery in a
biventricular heart that has an opening in the interventricular
septum, i.e. tetralogy of Fallot with pulmonary atresia
(TOF-PA) and Corrected transposition of great arteries with
pulmonary atresia and VSD (c-TGA-PA-VSD). Most
frequently PA-VSD has been used interchangeably
with TOF-PA. It is defined as a congenital cyanotic cardiac Fig. 29.1: Schematic diagram of pulmonary atresia with
malformation, characterized by the extreme under- ventricular septal defect. Straight arrow indicates an atretic
pulmonary valve, Curved arrow indicates flow to aorta (Ao)
development of right ventricular infundibulum with marked
from both ventricles. Pulmonary flow is from collaterals arising
anterior, superior and cephalad displacement of infundibular from aorta (C) (LA—left atrium, RA—right atrium, LV—left
septum, fused with the anterior wall of right ventricle ventricle, RV—right ventricle, PA—pulmonary artery)
resulting in complete obstruction of blood flow into
pulmonary artery and associated VSD. of TOF-PA for an infant born from a diabetic mother is
So, TOF-PA is a specific type of PA-VSD where intra- more) play important role in this complex cyanotic anomaly.
cardiac anatomy is more accurately defined. This chapter
is focused specifically on TOF-PA. EMBRYOLOGY
Morphogenesis of PA-VSD includes two aspects:
PREVALENCE
1. Morphogenesis of intracardiac abnormalities
The reported prevalence of PA-VSD from Baltimore- 2. Morphogenesis of systemic to pulmonary collaterals.
Washington Infant study is 0.07/1000 live births. PA-VSD Unequal partitioning and lack of normal rotation of distal
(TOF/PA) accounted for 1.4 percent of all forms of bulbus cordis result in malalignment between ventricular
congenital heart disease and 20 percent of all forms of TOF. septum and infundibular septum which results in the
It is more prevalent in male than in female infants. It is the ventricular septal defect and overriding of aorta.
etiologic heterogeneity like; genetic factors (chromosomal Morphogenesis of intracardiac abnormalities is almost
abnormalities and high association of 22 q11 deletion and similar to that of TOF except that the displaced infundibular
DiGeorge syndrome) and environmental factors (chance septum is fused with the free wall of the right ventricle.
 274 Clinical Diagnosis of Congenital Heart Disease
Morphogenesis of systemic to pulmonary artery collaterals:
The respiratory apparatus originates from an evagination
of anterior wall of foregut. This evagination is surrounded
by a pulmonary vascular plexus. This vascular plexus is
connected to dorsal aortae by the intersegmentary arteries.
The 6th aortic arch gives rise to right and left pulmonary
arteries and the ductus arteriosus. Once sixth arch connects
to pulmonary vascular plexus, the intersegmentary arteries
disappear. Bronchial arteries appear after intersegmentary
arteries have been absorbed. In PA-VSD, if 6th arch fails
to connect with pulmonary vascular plexus, intersegmentary
arteries will persist as systemic arterial collaterals. If
pulmonary atresia develops later, pulmonary circulation will
be supported by bronchial arteries.
The ductus arteriosus is usually absent as it has no
function to perform in fetus in presence of PA-VSD. If the
ductus is present it acts as a conduit between aorta and
pulmonary circulation, therefore it is long, narrow and
tortuous.
ABNORMAL ANATOMY
The intracardiac anatomy of the VSD with pulmonary atresia
is identical to that of TOF, i.e. an anteriorly malaligned
ventricular septal defect with aortic override is extremely
heterogeneous because of variability in pulmonary artery
architecture and the right ventricular outflow tract. In PA-
VSD, there is no continuity between right ventricle and
lumen of main pulmonary artery and branch pulmonary
arteries. In majority of cases infundibulum is atretic. In the
rest of the cases, the atresia is at right ventricle-pulmonary
trunk junction and consists of thick fibrous membrane but
infundibulum is patent.
In PA-VSD, main pulmonary artery, central pulmonary
arteries, hilar pulmonary arteries may be present or absent,
but distal intrapulmonary arteries are always present.
Main pulmonary artery is more commonly hypoplastic
and in about 5 percent of patients, pulmonary trunk is
completely absent. In PA-VSD, about 20 to 30 percent of
patients have non-confluent pulmonary arteries. In patients
with confluent pulmonary arteries, about 10 percent have
stenosis of right pulmonary artery origin and 20 percent
have stenosis of left pulmonary artery origin. When both
right and left pulmonary arteries originate from main
pulmonary artery it is said to be confluent. In other words
the term confluent means when the right and left pulmonary
arteries are associated with either a patent or atretic
pulmonary trunk and non-confluent means discontinuity
of right and left pulmonary arteries that is absence of central
portion of pulmonary arteries.
Single systemic arterial source of supply of blood to
the whole lungs is known as unifocal supply, when multiple
systemic channels supply blood to the lungs, it is known
as multifocal supply. There are three types of systemic
collateral arteries (SCA) and their mode of anastomosis is
also three types.
SCA Type 1
Bronchial artery branches entering the lung parenchyma to
form intrapulmonary anastomosis.
SCA Type 2
Direct aortic branch connecting to hilar pulmonary arterial
branches.
SCA Type 3
From a major branch of aorta for example from internal
mammary, innominate or subclavian artery to a hilar or
lobar pulmonary artery.
Collaterals arise mainly from descending thoracic aorta,
less commonly from the subclavian arteries.
CLASSIFICATION
PA-VSD was initially considered as truncus arteriosus type
IV in the classification of persistent truncus arteriosus by
Collett and Edwards. Subsequently it is classified as follows.
1. Classification as proposed by congenital heart surgery
nomenclature and database project. Basing on the
characterization of pulmonary circulation.
There are three types of PA-VSD:
Type A: There are only native pulmonary arteries.
• Pulmonary blood flow is supplied by patent ductus
arteriosus (PDA)
• No major aorto pulmonary collateral arteries present.
Type B: Both native pulmonary arteries and major aorto-
pulmonary collateral arteries are present.
 Pulmonary Atresia with Ventricular Septal Defect
Type C
• There are no native pulmonary arteries.
• Pulmonary circulation is supplied by major aorto-
pulmonary collateral arteries.
2. Classification based on type of branching of pulmonary
arteries.
According to the type of branching, there are four types
of PA-VSD:
Type I: Denotes the presence of both a main trunk
and confluent pulmonary arteries.
Type II: Main trunk is absent, branches are present
which may be confluent or no confluent.
Type III: Main trunk and one branch is absent but
hilar arteries are present.
Type IV: Main trunk and both branches are absent.
PATHOPHYSIOLOGY
As aorta is the only exit from both ventricles, all the systemic
venous return and pulmonary venous return are completely
mixed in the aorta. Pulmonary blood flow occurs through
PDA or through the collaterals.
The distribution of blood to systemic and pulmonary
circulations depends on relative resistances offered by either
circulation. The systemic arterial saturation depends on the
relative proportion of blood flow to the lungs.
In PA-VSD total pulmonary vascular resistance is high,
when pulmonary blood flow is unifocal, pulmonary vascular
resistance can be calculated. If pulmonary blood flow is
multifocal, different intra pulmonary arteries are supplied
by different sources and different parts of lung have different
pulmonary vascular resistance. Hence, it is impossible to
calculate the overall pulmonary vascular resistance.
CLINICAL FEATURES
Symptoms
Some neonates presenting with moderate to severe cyanosis
become hypoxemic and irritable. These symptoms indicate
that pulmonary flow is duct dependent and it is a closing
duct, which causes hypoxia. Majority of infants present
with mild cyanosis without symptoms, grow with poor
weight gain. In childhood or adolescence, they develop
exertional dyspnea and easy fatigability. All these indicate
that the patients have developed good collaterals for
275
adequate pulmonary blood flow. Rarely, the infants present
with no cyanosis or mild cyanosis and signs of congestive
heart failure. It is because they develop collaterals early
and pulmonary blood flow is high.
Signs
Mild to severe cyanosis is present depending upon
pulmonary flow. Clubbing appears at late infancy. Peripheral
pulses are usually normal; when high volume pulse is
palpable if indicates presence of large PDA or collaterals.
Precordium is quiet, no thrill or heave is palpable; when
precordium is pulsatile it indicates excessive pulmonary
blood flow. First heart sound is normally heard, second
sound (A2) is single and a loud aortic ejection click (because
of dilated aortic root) is audible. Widespread continuous
murmur over precordium may be audible due to major aorto
pulmonary collateral arteries. No ejection systolic murmur
is audible over pulmonary area, i.e. no RV outflow murmur
because the infundibulum is atretic.
INVESTIGATIONS
Electrocardiography
Electrocardiographic findings are similar to those of TOF.
ECG Shows right atrial enlargement, right ventricular
hypertrophy, right axis deviation usually between +100o
and 180o (Fig. 29.2). Combined ventricular hypertrophy
and left atrial enlargement may be seen in infants with
increased pulmonary blood flow.
The electrocardiographic evidence of right ventricular
hypertrophy distinguishes this condition from pulmonary
Fig. 29.2: ECG of pulmonary atresia with ventricular septal
defect. There is right axis deviation, right atrial enlargement
and right ventricular hypertrophy
 276 Clinical Diagnosis of Congenital Heart Disease

atresia and intact ventricular septum where left ventricular

hypertrophy is seen without right ventricular forces.

Radiography
Radiographic appearance resembles that of TOF.
Characteristic shape of the heart is “coeur en sabot” or
boot shaped. This appearance is most often found in PA-
VSD than in TOF. This appearance is because of levorotation
of heart producing prominent upturned cardiac apex
secondary to right ventricular hypertrophy and concave
main pulmonary artery segment (Fig. 29.3). Cardiac size is
sometimes larger, chiefly in response to collaterals. Main
pulmonary artery segment is concave. Pulmonary vascular
markings are characteristically uneven without a normal
arborization pattern of vessels. Systemic collaterals cause
heterogeneous lacy reticular pattern. Some areas are
oligemic, while other areas are normal or show increased
vascularity. Right aortic arch as evidenced by indentation Fig. 29.3: X-ray chest of pulmonary atresia with ventricular
on the right side of trachea is seen in 25 to 50 percent of septal defect. There is right ventricular type of apex and
cases. absence of pulmonary arterial shadow

Echocardiography
Echocardiography confirms the diagnosis and delineates
any associated cardiovascular malformations but is not able
to demonstrate all aspects of the complex pulmonary arterial
supply. 2D-echo findings are dilated right atrium,
hypertrophied right ventricle, large ventricular septal defect
with overriding of aorta due to anteriorly deviated
infundibular septum (Fig. 29.4A). Blind right ventricular
outflow tract pouch or imperforate pulmonary valve is seen
as a thick band (Fig. 29.4B). Size, presence, integrity of
proximal pulmonary arteries and confluence are also noted.
Tortuous duct, associated anomalies like atrial septal defect,
atrioventricular canal defect and right aortic arch if present
are diagnosed.
Color Doppler shows no color flow from RV to
pulmonary artery. There is evidence of right to left shunt
across ventricular septal defect. Collateral flow to hilar
pulmonary arteries (Fig. 29.4C) and aortic regurgitation if
present are seen by color flow imaging.
Magnetic Resonance Imaging
MRI demonstrates the anatomy of central pulmonary arteries
and especially useful when other techniques like
angiocardiography have failed to demonstrate these arteries.
MRI is not only useful in demonstrating central pulmonary
arteries, but also helpful in showing the major collaterals.
Cardiac Catheterization and Angiocardiography
Cardiac catheterization is mandatory before a definitive
operation and also to determine the source of pulmonary
blood flow. Catheterization findings are right atrial mean
pressure is normal; it may be elevated, if tricuspid
regurgitation is present. There is systemic right ventricular
pressure. Aortic pressure is normal. Systemic arterial
desaturation is present. Catheter will not enter pulmonary
arteries from right ventricle, as right ventricular outflow
tract is atretic.
Left ventricular angiocardiogram shows malaligned
ventricular septal defect and associated muscular ventricular
septal defects if present. Angiographic demonstration of
coronary artery anatomy either by aortic root angio or
selective coronary angiogram is necessary because of
associated coronary artery anomalies. Angiographic
delineation of pulmonary artery anatomy is very important
in proper planning of management. Pulmonary arteries can
be demonstrated either through patent ductus arteriosus,
 Pulmonary Atresia with Ventricular Septal Defect
Figs 29.4A to C: Echocardiography of pulmonary atresia with
ventricular septal defect (A) parasternal long axis view, left
panel shows a large subaortic VSD (arrow) with a overriding
dilated aorta (Ao) and right ventricular hypertrophy right panel
shows color flow from both ventricle to aorta, (B) short axis
shows a atretic pulmonary valve (arrow), and (C) continuous
turbulence in a hilar pulmonary artery indicating major aorto-
pulmonary collateral (LA—left atrium, LV—left ventricle, RV—
right ventricle)
277
surgically created shunts, systemic collateral vessels or by
pulmonary venous wedge angiograms. Aortogram shows
systemic to pulmonary collaterals.
DIAGNOSIS
Cyanosis is usually present from neonatal period. Cardiac
impulse is prominent at lower sternal border mainly right
ventricular type. In most of the cases no murmur is audible
particularly no murmur is present across right ventricular
outflow tract. In majority of cases continuous murmur is
audible and is due to major aorto pulmonary collaterals or
due to patent ductus arteriosus. ECG shows right axis
deviation, right ventricular hypertrophy and sometimes
biventricular hypertrophy. Radiological features are boot
shaped heart (“Coeur en Sabot”), concavity of main
pulmonary segment with pulmonary oligemia and right
aortic arch in some cases. Summarizing 95 percent of
infants beyond one month of age having cyanosis, single
second heart sound, aortic ejection click and a
continuous murmur are clinically diagnosed as PA-
VSD.
DIFFERENTIAL DIAGNOSIS
Differential diagnoses of PA-VSD are:
1. Tetralogy of Fallot (TOF)
2. Anomalies having tetralogy like physiology such as a—
single ventricle with pulmonary stenosis (PS) and double
outlet right ventricle with pulmonary stenosis (DORV
with PS)
3. Pulmonary atresia with intact ventricular septum (PA
with IVS)
4. Tricuspid atresia.
The main differentiating points in favor of these
conditions are:
TOF: In both PA-VSD and TOF precordium is not pulsatile,
RV impulse, S2 single, ejection click (aortic), right axis
deviation and RVH in ECG and radiological features of
decreased vascularity and typical “Coeur en Sabot”
appearance are seen. The important differentiating feature
is presence of RVOT murmur which favors TOF whereas
absence of RVOT murmur with continuous murmurs due
to collaterals indicate PA-VSD.
 278 Clinical Diagnosis of Congenital Heart Disease
PA with IVS: The differentiating features are apical impulse
is LV type; soft pansystolic murmur over lower sternal
border due to TR may be present. Left ventricular hyper-
trophy in ECG and radiological features of cardiomegaly
with LV contour and left sided aortic arch differentiates
PA-IVS from PA-VSD.
Tricuspid atresia: Apical impulse is LV type; second heart
sound single, long systolic murmur over lower parasternal
border, ECG evidence of left axis deviation, and left
ventricular hypertrophy and radiological evidence of RA
enlargement with LV contour favor the diagnosis.
However for all these above clinical conditions,
echocardiography and in some cases cardiac catheterization
and angiography are necessary to reach at a definite
diagnosis.
COMPLICATIONS
1. Patients with PA-VSD are at risk for systemic arterial
emboli and cerebrovascular accident like any other
patients with right to left shunt
2. Headache secondary to polycythemia
3. Cerebral abscess
4. Infective endocarditis.
NATURAL HISTORY AND PROGNOSIS
Natural history of PA-VSD is variable and depends on the
adequacy and nature of the pulmonary blood supply. Miller
suggested prognostic criteria and described all patients in
three groups.
Group I: Comprises infants with inadequate pulmonary
blood flow. They are mostly duct dependent. They belong
to extreme group of TOF. About half of the patients fall
into this group. The life span of these infants is very short
unless immediate steps, mainly surgical intervention is not
done.
Group II: Hypoxia does not usually manifest until childhood.
They have required amount of pulmonary blood flow, i.e.
they depend on collateral but it becomes inadequate with
growth of the child. Subsequently they become symptomatic
and live up to second to third decade. About 25 percent of
all patients belong to this group.
Group III: This group has increased pulmonary blood
flow because of early development of adequate collaterals,
and this group comprises about rest 25 percent of all cases.
Some of these patients present with congestive heart failure
during infancy. If they thrive the crises they live up to third
or forth decade. Overall the majority of them won’t survive
more than few years after they become symptomatic.
GUIDELINES FOR MANAGEMENT
Medical management has very little role in cases of PA-
VSD. Once it is diagnosed the dictum is to advice the patient
for surgery. When the neonate is duct dependant,
prostaglandin E1 infusion is to be stated to maintain pulmo-
nary circulation till surgery is done. A few infants develop
CHF due to excessive pulmonary blood flow, they are
treated with decongestive therapy. When cyanosis becomes
deep, to decrease polycythemia sometimes phlebotomy is
advised.
Decision for surgery entirely depends on pulmonary
artery anatomy and it’s blood flow pattern to lungs. Blood
flow to lungs occurs in a complex manner, so type of
surgery varies from patient to patient.
Surgery is advised in stage wise manner in most of the
cases.
1. Palliative surgery includes, systemic-to–PA shunt for
better pulmonary blood flow (Blalock-Taussig and Gore-
Tex shunt)
2. Complete or definitive repair. All decisions depend on
the confluent or non-confluent pulmonary arteries. The
size of the pulmonary artery is an important factor for
surgery (Mac Goon ratio of about 0.5, Nakata index of
20 and Z-value of about—10).
Single stage repair is under taken in presence of
confluent pulmonary arteries where central PA is of adequate
size (50% of normal PA) and it connects without obstruc-
tion to sufficient areas of lungs. It consists of closer of
VSD and establishing continuity between RV and central
PA. The continuity is maintained by a trans-annular out
flow Dacron patch or by a conduit with tissue valve. Usually,
the conduits are porcine or bovine valves or aortic or
pulmonary homografts (cryopreserved antibiotic sterilized
aortic homografts). Hypoplastic non confluent pulmonary
arteries are not amenable to single stage repair. In some
cases transcatheter embolization therapy (Gianturco coil)
is advised before or after complete repair, observing blood
supply to those areas.
 Pulmonary Atresia with Ventricular Septal Defect
SALIENT FEATURES
1. It is a complex cyanotic cardiac anomaly previously
known as Truncus type IV or Pseudotruncus.
2. For all practical purposes it is same as TOF with
pulmonary atresia. Presences of systemic pulmonary
collaterals are important association, which sometimes
by increasing pulmonary flow may produce CHF.
3. Some neonates born with cyanosis slowly become
irritable, hypoxic and critically ill indicating closure of
the ductus with inadequate collaterals. Whereas other
neonates or infants born with cyanosis gradually
become stable because of early development of
collaterals and they grow with retarded growth.
279
4. Infants present with cyanosis, S2 single (only A2), aortic
EC and wide spread continuous murmur over
precordium (collateral flow), no ejection murmur over
pulmonary area.
5. ECG shows right axis deviation with RVH, X-ray is like
TOF but pulmonary vascularity may be uneven which
is characteristic of PA-VSD.
6. Echocardiography confirms the diagnosis by
delineating atretic pulmonary valve along with features
of TOF. Major aorto-pulmonary collaterals can also be
demonstrated.
7. Medical management is mainly by prostaglandin E1
infusion when the neonate is duct dependant but
surgical repair is the definitive treatment.
30 Double Outlet Right Ventricle
Definition
Double outlet right ventricle (DORV) is a controversial and
fascinating cardiac malformation encompassing a wide
spectrum of anatomic arrangements and pathophysiological
disturbances. Kirklin and Barrott-Boyes defined DORV as
a congenital cardiac anomaly in which both great arteries
(aorta and pulmonary artery) arise wholly or in large part
from the right ventricle. Within this broad definition there
exist several distinct sub-types needing precise description
and management.
History
The earliest report of DORV was published in French
literature in 1703, but it was unnoticed for 90 years. DORV
like condition for the first time was described in 1793 by
Abernethy of St. Aartholomer’s hospital. But the name
DORV was introduced by Witham in 1957. Prior to this
nomenclature of such anomaly was known as “partial
transposition”.
Incidence
The estimated incidence is 0.09 per 1000 live births and
4.5 percent of necropsy cases of congenital heart disease.
Some observed a higher incidence of DORV in patients
with trisomy-13 and trisomy-18. Male to female ratio is
approximately 1.7 to 1.
Embryology
The exact embryogenesis of DORV is poorly understood.
It is an abnormal ventriculoarterial connection occurring in
the early stages of ventricular loop formation and
infundibular development. During Streeter horizon 15,
bulboventricular malformations give rise to DORV.
AN Patnaik
Variability in the size of the ventricular inflow and outlet
septum decides the location of ventricular septal defect
(VSD) and relation to the great arteries. Defective absorption
of the subaortic conal free wall gives rise to aortic-mitral
discontinuity. Another view is that discordant conal
development relative to the ventricular development results
in this anomaly. It is a spectrum of transposition complex.
Abnormal Anatomy
DORV is almost always associated with visceral situs
solitus and atrioventricular concordance. As the name
suggests both the great arteries arise entirely or predo-
minantly from a well developed right ventricle. Invariably a
well developed left ventricle is also present. To assign both
the great arteries to any one ventricle, one great artery and
at least half of the other great artery have to be related to
that ventricle. The three essential components in this
complex condition that need elaboration are: (a) the
relationship of the great arteries to the ventricles, (b) the
relationship of the ventricular septal defect to the great
arteries and (c) the presence or absence of right ventricular
outflow obstruction. The associated anomalies should also
be identified.
There are four types of relationship of the great arteries
to the ventricle: (i) aorta to the right and posterior to the
pulmonary trunk (normal arrangement), (ii) side-by-side
great arteries with aorta to the right of pulmonary artery,
(iii) aorta to the right and anterior to the pulmonary artery
(d-malposition), (iv) aorta to the left and anterior to the
pulmonary artery (I-malposition). The second arrangement
is the most common one. The VSD can be located at four
possible locations with respect to the great arteries, namely
subaortic (50%), subpulmonic (35%), doubly committed
(10%) and non-committed (5%). The non-committed VSD
 Double Outlet Right Ventricle 281

is found either in the muscular or in the inlet septum. VSD
is generally nonrestrictive and in a few cases multiple VSDs
are observed. Taking the above two variables, sixteen
possible subtypes of DORV can be expected; the most
frequent one being DORV with a sub-aortic VSD and side-
by-side relationship of the great arteries with the aorta
directly to the right of pulmonary artery.
Subaortic obstruction is seen in one-third of the cases.
Pulmonic stenosis can be observed in half to two-third of
the patients and the valve is usually bicuspid. The obstruc-
tion may be sub-pulmonic, valvar or both. The under-
development of respective conus with malalignment of the
infundibular septum leads to subaortic/subpulmonic
obstruction. The actual obstruction to the outflow may be
at the VSD which is the only outlet to left ventricle (LV).
Decrease in size of this defect may end up in complete
closure in a few cases. Congenitally intact septum resulting
in a hypoplastic left ventricle is an extremely rare
occurrence.
Presence of bilateral infundibulai (double conus),
more than 50 percent aortic override and aorto-mitral
discontinuity are important morphological clues that
help in differentiating DORV from its close mimics;
however they are not absolute prerequisites for the
diagnosis. Associated anomalies like hypoplasia of aortic
arch, isthmic hypoplasia, patent ductus arteriosus,
interruption of aortic arch, juxtaposition of the atrial
appendages, atrial septal defect, variation in coronary artery
course and atrioventricular (AV) valve abnormalities may
coexist and influence the hemodynamics and the prognosis.
Double outlet left ventricle (DOLV) is one of the rarest
of abnormal ventriculoarterial alignments and is the converse
of DORV, i.e. both great arteries arise entirely or predomi-
nantly from the left ventricle. The VSD may be subaortic,
subpulmonic or absent. Obstruction to the ventricular
outflow may or may not be present.
Classification
Different authors have postulated different classifications
of DORV.
1. Neufeld postulated a physiological classification based
on the presence of pulmonary stenosis (PS) and position
of VSD in 1961.
2. McGoon postulated a surgical classification in 1968.
3. Lev and his colleagues proposed a clinical classification
of DORV in 1972, which is widely accepted due to its
simplicity and functional utility. It is as fallows:
A. Subaortic ventricular septal defect
1. without pulmonic stenosis
a. low pulmonary vascular resistance
b. high pulmonary vascular resistance
2. with pulmonic stenosis.

Figs 30.1A to C: Schematic diagram of different types of DORV (A) Subaortic VSD with PS. (B) Subpulmonic VSD with no PS
(Taussig-Bing anomaly) with coarctation of aorta (straight arrow). (C) Subaortic VSD and no PS. Curved arrows indicate
direction of blood flow (LA—left atrium, RA—right atrium, LV—left ventricle, RV—right ventricle, Ao—aorta, PA—pulmonary
artery). There is discontinuity between semilunar valves and AV valves
 282 Clinical Diagnosis of Congenital Heart Disease

B. Subpulmonic ventricular septal defect Clinical Features

1. without pulmonic stenosis (Taussig-Bing anomaly)
The clinical features of DORV are mainly described under
a. low pulmonary vascular resistance
four groups in order of frequency.
b. high pulmonary vascular resistance
1. TOF like presentation (presence of VSD with PS).
2. with arch anomalies and subaortic stenosis.
2. Taussig-Bing anomaly (nonrestrictive sub-pulmonic
C. Doubly committed ventricular septal defect.
VSD with transposition like physiology).
D. Non-committed ventricular septal defect.
3. Nonrestrictive VSD like presentation.
E. Intact ventricular septum/closed VSD.
4. In later stage with increase pulmonary vascular
resistance the clinical feature is that of Eisenmenger’s
Hemodynamics
syndrome.
The major hemodynamic determinants are intracardiac
mixing at the location of the VSD, presence or absence of “TETRALOGY OF FALLOT” LIKE
pulmonic stenosis, pulmonary vascular resistance (PVR). PRESENTATION
Additional defects also influence the ultimate hemodynamics. Clinical Features
The physiological consequences fall into one of the four
The clinical features depend on the severity of the pulmonary
clinical patterns.
stenosis. The cyanosis can be present at birth when PS is
1. In those with sub-aortic VSD, no pulmonic stenosis
severe or is delayed for some weeks to months and then
and low PVR resemble a nonrestrictive perimembranous
becomes progressive. At later age squatting and cyanotic
VSD allowing the left ventricular blood streaming into
spells are seen in some cases. Polycythemia and failure to
the aorta with adequate or increased pulmonary blood
thrive are other important presenting features in young
flow (PBF). The arterial saturation is normal.
children. Arterial and jugular venous pulses are normal. The
2. Subsequently with significant rise in PVR, PBF falls
precordial impulse is quiet and RV type. At times a systolic
and arterial saturation decreases. This clinical form
thrill is appreciated along with a pulmonic systolic murmur
resembles Eisenmenger’s complex.
whose duration varies inversely with the degree of stenosis.
3. When pulmonic stenosis present clinical pattern
Less commonly when the pulmonic stenosis is very
resembles tetralogy of fallot. However anatomically VSD
mild the child is acyanotic with a holosystolic murmur at
in this type of DORV forms a part of the LV outflow (a
the left lower sternal border. Such patients may show a
different entity for the surgeon).
delayed pulmonary component of second heart sound and
4. When subpulmonic VSD exists with no pulmonic
an apical mid diastolic rumble. On the other extreme if
stenosis the physiology resembles complete transposition
pulmonary atresia is present, an aortic ejection click, a soft
of the great arteries (d-TGA) known as Taussig-Bing
aortic mid systolic murmur and a loud aortic component of
anomaly. There is admixture of pulmonary and systemic
second heart sound may be heard. In exceptional cases a
venous blood flows as well as increase in pulmonary
long decrescendo systolic murmur is heard at the left lower
blood flow. Systemic desaturation occurs because the
sternal border due to the obligatory shunt via a restrictive
systemic venous inflow is directed to the aorta and LV
VSD. In this setting a fourth heart sound is commonly
outflow is directed to the pulmonary trunk in the setting
audible.
of Taussig-Bing anomaly. Systemic pressures in LV,
RV and MPA are same in absence of PS. With this Investigations
pattern coarctation of aorta and aortic arch anomalies
Electrocardiography
may be associated further augmenting the PBF leading
to LV volume overload. Subsequently, a significant rise Electrocardiographic features of DORV with PS are peaked
in PVR occurs, which diverts RV blood into aorta P in lead II (right atrial enlargement), right axis deviation
enhancing systemic desaturation. and right ventricular hypertrophy (RVH) resembling TOF.
 Double Outlet Right Ventricle
Fig. 30.2: ECG of DORV, VSD and PS showing right axis,
counter clockwise loop, RA enlargement and right ventricular
hypertrophy with slurred S in V5 and V6
But prolonged PR interval, counter clockwise loop, RVH
having qR pattern in V1-V2, q in I and aVL and broad and
slurred S in V5, V6 are very characteristic features of DORV
with TOF like presentation that differentiate it from classical
TOF (Fig. 30.2).
Radiography
Chest X-ray shows a normal sized heart with rounded or
boot shaped apex (Fig. 30.3). The pulmonary arterial
vascularity may be normal or reduced. The ascending aorta
is dilated, but MPA is inconspicuous.
Echocardiography
2D echocardiogram with Doppler flow imaging is the most
vital investigation for confirming the diagnosis and
delineating the anatomical structures, which are helpful to
the surgeons. Sub-xiphoid view helps in visualization of
both great arteries arising from RV and the type and severity
of PS. Short and long axis view delineates pulmonary valve,
aortic valve and the VSD. It also helps to determine the
great arterial relation and type of VSD. Mitral-aortic
discontinuity, which is an important feature of DORV, is
well visualized in long axis view. Doppler interrogation is
useful in estimating severity of PS. The echocardiographic
measurements of the distance between pulmonary and
tricuspid valves, aortic diameter and coronary artery
anatomy are necessary for planning surgical correction.
Cardiac Catheterization
The standard protocol of cardiac catheterization is from
femoral approach. The catheter is passed from RA to RV
and from RV to aorta and pulmonary artery. In presence
283
Fig. 30.3: X-ray chest of DORV, sub-aortic VSD with PS,
there is boot shaped heart and decreased vascularity
of PS, the PA pressures are reduced and a pressure gradient
is demonstrated across the stenosis. Simultaneous
opacification of both great arteries and commitment of aorta
to RV (rather than TOF–like aortic override of IVS) can
often be demonstrated on RV angiogram. In this RV
angiogram the location of VSD and type of pulmonic stenosis
can be delineated. Sometimes RV angiogram in frontal
projection may show well-developed conus or infundibular
outlet septum, which is abnormally oriented giving rise to
“teardrop” appearance. LV angiogram in axial projection
also delineates the origin of great arteries. Bilateral muscular
infundibuli are seen characteristically in this condition.
Double chambered RV may be observed in some cases.
Diagnosis
A cyanotic infant with features of RV dominance, normally
split second sound and a long systolic murmur at lower
sternal border suggests DORV. The characteristic ECG
findings like prolonged PR interval and counter clockwise
initial forces (Q waves in leads I and aVL) in spite of a
vertical or rightward axis and prolonged terminal forces
(slurred S waves in leads I, aVL and V5, V6 with a broad R’
in aVR) are suggestive of DORV. Echocardiogram and
angiogram confirm the diagnosis.
 284 Clinical Diagnosis of Congenital Heart Disease
Differential Diagnosis
Anomalies having cyanosis from infancy but without any
signs of heart failure (CHF) can be included in the differential
diagnosis of this type of DORV. They are mainly tetralogy
of Fallot, single ventricle with PS, tricuspid atresia and d-
TGA-VSD-PS. Besides clinical signs and symptoms,
echocardiogram and angiogram are necessary for final
diagnosis.
“TAUSSIG-BING ANOMALY” PRESENTATION
The anatomic, physiologic and clinical features were
described in detail for the first time by Taussig and Bing in
1949. This anomaly resembles complete transposition
of great arteries with nonrestrictive VSD. Nonrestrictive
sub-pulmonic VSD and great arteries side-by-side with aorta
slightly anterior and right to pulmonary artery is common.
Absence of pulmonic stenosis is almost uniform. Coarctation
of aorta, sub-aortic stenosis and a patent ductus arteriosus
are frequent associations. Van Praagh considered Taussig-
Bing malformation a form of DORV with a sub-pulmonic
VSD and bilateral muscular infundibuli.
Clinical Features
Cyanosis is often present from birth. It varies from mild to
severe degree. Infants suffer from repeated chest infections
and congestive heart failure. Tachypnea and grunting are
common. The infants are underweight and development is
delayed. At a later stage with development of pulmonary
vascular disease some of them become apparently
asymptomatic but cyanosis and clubbing may be prominent.
In rare cases a typical reverse differential cyanosis (fingers
more cyanotic than toes) may be seen when associated
with a patent ductus. It is pathognomic when present and
it occurs due to supra systemic PVR that reverses the ductal
shunt (oxygenated LV blood goes to pulmonary artery, then
ductus and to descending aorta). If coarctation is present
early congestive failure occurs in the first week of life and
the neonate becomes very sick.
Peripheral pulses are normally felt. Femoral pulses may
be diminished in presence of coarctation of aorta. A large
ductus distal to coarctation may mask this sign. JVP wave
pattern is not clearly appreciated in neonates and young
infants because of tachycardia and short neck. Precordium
is pulsatile, first heart sound is normally heard, S2 is closely
split (P2 loud) and ejection click over left precordium
(pulmonary, due to dilatation of MPA) is audible. Ejection
systolic murmur 2-3/6 over upper sternal border (pulmonary
flow murmur), pansystolic murmur (due to VSD) over
second and third sternal border and in occasional cases a
mid-diastolic murmur over apex (flow murmur) is audible.
Subsequently when the infant grows and attains late
childhood these signs of high flow pulmonary circulation
changes to decreased flow group, because pulmonary
vascular resistance increases. With development of
pulmonary vascular disease the failure ameliorates; apical
impulse is less conspicuous, thrill disappears and RV impulse
becomes more gentle. Second heart sound becomes single
and loud. Graham Steell murmur may be heard.
Investigations
Electrocardiography
Clockwise loop with vertical or right axis of frontal QRS is
common (not left axis deviation which is common with
DORV and sub-aortic VSD). PR interval is often normal.
Tall peaked right atrial P waves and right ventricular
hypertrophy, evident by tall R waves in leads V1 and deep
S waves in left precordial leads are common.
Radiography
X-ray chest in infants reveals cardiomegaly, increased
vascularity and a narrow vascular pedicle if pulmonary
artery is not forming the border (Egg lying on its side appear-
ance as seen in d-TGA). However a prominent pulmonary
trunk (MPA) is characteristically seen unlike cases of
d-TGA. Thymic shadow is commonly present in Taussig-
Bing anomaly (not in d-TGA). With onset of pulmonary
vascular disease the heart size becomes near normal with
persistence of prominent central pulmonary arteries.
Echocardiography
Cross sectional echocardiography plays important role in
the diagnosis of Taussig Bing type of DORV. In 2D
parasternal short axis view both great arteries appear as
double circle, aorta being on right side and slightly anterior
to pulmonary artery. The other characteristic pictures are
sub-pulmonic VSD (Fig. 30.4) and semilunar-mitral
discontinuity. Frequently coarctation of aorta and PDA are
associated echocardiographic findings.
 Double Outlet Right Ventricle
Fig. 30.4: Echocardiography of DORV, 4-chamber view shows
a large sub-pulmonic VSD (arrow) without PS. Aorta (Ao)
arising from right ventricle (RV) (LV—left ventricle, PA—
pulmonary artery) (Courtesy: Dr BK Mahala, Narayana
Hrudayalaya, Bangalore)
MRI
MRI is most helpful in demonstrating clearly relationship
of great arteries and also position of VSD with that of great
arteries.
Cardiac Catheterization
The systolic pressures in LV, RV, aorta and pulmonary
artery are equal. When catheter easily enters pulmonary
artery and aorta from LV, DORV is a strong possibility.
Oxygen saturation in pulmonary artery in Taussig-Bing
anomaly (as in d-TGA) is higher than aorta and systemic
arteries. In other types, PA saturation is higher than aorta
but less than systemic arteries. Angiography shows a high
VSD related directly to the pulmonary valve. Presence of
conus between pulmonary valve and anterior mitral leaflet
as well as absence of conus between VSD and pulmonary
valve are considered important angiographic features of
this entity. Aortography including root injections is done to
study aortic arch anomalies as well as coronary arteries.
Diagnosis
With clinical findings like cyanosis from infancy, RV
dominance, ejection click (pulmonary), short ejection
systolic murmur over upper and a pansystolic murmur over
285
lower sternal border, ECG features of right axis and RVH
and radiological findings of prominent MPA, the clinician
can consider Taussig-Bing anomaly as a possibility. Early
cyanosis with increased PBF in presence of coarctation or
presence of typical reversed differential cyanosis (fingers
more cyanotic than toes) give a positive clinical clue, for
the diagnosis. Echocardiography and cardiac catheterization
with RV angiography can confirm the diagnosis.
Differential Diagnosis
The anomalies having cyanosis from infancy, features of
RV dominance and ECG findings of RVH come under
differential diagnosis. Common conditions are d-TGA, TOF,
persistent truncus, single ventricle and TAPVC. Clinical
features of Taussig -Bing anomaly and TGA may be similar
but radiological features of prominent pulmonary artery are
very suggestive of the former. Persistent truncus may have
a right arch, a bulge in the area of MPA and during cardiac
catheterization PA is not easily entered. In TOF the MPA is
not prominent and pulmonary oligemia and typical cardiac
silhouette suggest the diagnosis. TAPVC is differentiated
by the prominent pulmonary murmur, wide splitting of S2
and characteristic. X-ray finding of figure of ‘8’ appearance.
“NON-RESTRICTIVE VSD” LIKE PRESENTATION
Clinical Features
Cyanosis is absent or minimal in these infants having DORV
with large VSD as the saturated LV blood is preferentially
directed to aorta and unsaturated RV blood to pulmonary
artery. Most of these infants develop repeated respiratory
infections and heart failure (Tachypnea, tachycardia and
hepatomagaly). Failure to thrive may be a dominant feature.
A bulging hyperdynamic precordium, RV apical impulse,
palpable dilated pulmonary artery with a loud second sound
(pulmonic) are common presentations. First heart sound is
normal or soft (due to prolonged PR interval). A typical
pansystolic murmur (due to the VSD) is heard over left
third and fourth sternal border. At apex a mid diastolic flow
rumble is heard. Even with development of pulmonary
vascular disease the pulmonary arterial flow is still increased
due to obligatory shunt. With onset of pulmonary vascular
disease cyanosis may appear and clubbing may set in. Apical
impulse is more sustained with quiet precordium. The
systolic murmur becomes less prominent. Pulmonic ejection
 286 Clinical Diagnosis of Congenital Heart Disease

click, a decrescendo early diastolic murmur (Graham-Steell

murmur) may be audible. In rare cases pulmonary vascular
disease develops as early as second month of life.

Investigations
Electrocardiography
Sinus rhythm and prolonged PR interval are common
findings. Left axis deviation with counter clockwise loop
and absence of splintering of the S waves in inferior leads
are characteristic features of this anomaly. Right ventricular
hypertrophy (tall R waves about 15 mm in leads V1 and
aVR and deep S in left precordial leads) and LV volume
overload pattern (large RS complexes in mid precordial leads
and tall R waves in leads V5 and V6) are consistent features.
Right atrial enlargement is seen in majority of cases. Rise in
PVR does not affect the frontal QRS axis but the precordial
leads show pure right ventricular hypertrophy. Left axis Fig. 30.5: X-ray chest of DORV, sub-aortic VSD without PS,
deviation with counter-clockwise loop is a useful clue to there is cardiomegaly, prominent right descending pulmonary
distinguish it from Eisenmenger’s Complex. artery and increased vascularity (Courtesy: Dr PK Pati, CMC,
Vellore)
Radiography
Cardiomegaly, convex right border (RA enlargement), left sub-aortic VSD which acts as the only outlet for LV, (ii) the
atrial and left ventricular enlargement, prominent main double circle appearance of great arteries arising from
pulmonary artery and increased pulmonary blood flow anteriorly placed RV and (iii) mitral semilunar discontinuity
(PBF) pattern are usual radiological features (Fig. 30.5). (better seen in parasternal long axis view).
When pulmonary vascular disease sets in, the lung fields
become oligemic, the cardiac silhouette becomes normal Note: In TOF mitral-aortic continuity is present and in TGA
or near normal, the proximal pulmonary arteries are grossly mitral-pulmonary continuity is characteristic. Thus TOF with
dilated. In DORV, pulmonary plethora persists with significant aortic—override and TGA with large VSD can be
differentiated from DORV (Mitral aortic discontinuity).
cyanosis, but in Eisenmenger’s complex cyanosis is seen
with pulmonary pruning and oligemia.
Cardiac Catheterization
Echocardiography
The recent trend in many advanced centers is to obtain
2D echocardiogram with color Doppler delineates the most of the anatomical and physiological information from
anatomical details like the visceral and atrial situs, atrial and echocardiographic examination so as to minimize or avoid
ventricular size, their morphology, location and size of VSD, invasive studies in sick infants. Both the ventricles, PA and
aortic root, its override, presence or absence of aortic- aorta show equal systolic pressure. Calculation of PVR
mitral continuity, presence and absence of either conus, index, relative and absolute ventricular volumes and any
the origin and spatial relationship of the two great arteries gradient across the VSD are important for surgical planning.
(Fig. 30.6A), sub aortic/sub-pulmonic stenosis, AV valve The side-by-side great arteries with aorta to the right of
morphology and straddling and any other associated pulmonary artery is the most common pattern of great artery
anomalies. Particularly the parasternal long axis and short relationship in this type of DORV. The size and location of
axis views help in visualization of all important VSD can be assessed by left ventriculogram (Fig. 30.7).
echocardiographic features of DORV like (i) the typical Selective RV angiogram establishes the diagnosis of DORV.
 Double Outlet Right Ventricle
Figs 30.6A and B: Echocardiography of DORV, (A) subcostal
view shows a large sub-aortic VSD without PS, Both great
arteries are parallel to each other, semi lunar valves are at the
same level, and (B) short axis shows both great arteries side
by side (aorta to right of pulmonary artery) (Ao—aorta, PA—
pulmonary artery) (Courtesy: Dr SK Sahoo, Cuttack)
The characteristic angiographic findings of DORV are
(a) opacification of both great arteries from RV (PA is
usually better opacified), (b) both semilunar valves at the
same level, (c) malposed aorta in the lateral view, (d) tongue-
like filling defect in frontal view and (e) aorto-mitral
discontinuity. Delineation of coronary arteries is another
important indication for catheterization in complex
congenital defects. The origin and course of coronary
arteries is variable in different sub-types of DORV.
MRI/CT Scan
Though echocardiogram and cine-angiogram give adequate
anatomical details needed for the surgeon, occasionally CT/
287
Fig. 30.7: LV angiography of DORV showing a large sub-
aortic VSD without PS, Both great arteries are side by side
and parallel to each other, there is bilateral conus with semi
lunar valves are at the same level
MR angiogram is done for better visualization of the
pulmonary arteries, ventricular morphology, location of VSD
and great artery relationship.
Diagnosis
In infants with clinical findings of large VSD (Cardiomegaly,
CHF, loud P2 and pansystolic murmur over lower sternal
border) if minimal cyanosis is detected DORV-VSD is a
possible diagnosis. With these clinical findings early heart
failure, poor growth and delayed development and ECG
findings of left axis deviation counter clockwise loop with
biventricular enlargement strengthen the diagnosis of DORV
with VSD. Echocardiogram and cardiac catheterization
confirm the diagnosis.
Differential Diagnosis
The most important condition to be differentiated is a non-
restrictive perimembranous VSD and VSD associated with
complete AV canal defect. When neonatal cyanosis is present
DORV-VSD or complete AV canal defect are suspected
but not simple VSD. After development of pulmonary
 288 Clinical Diagnosis of Congenital Heart Disease
vascular disease it may be indistinguishable from
Eisenmenger’s complex. Persistent increased PBF in
presence of cyanosis may suggest DORV-VSD with
pulmonary arterial hypertension (PAH) rather than large
VSD with PAH. Left parasternal soft decrescendo systolic
murmur and characteristic ECG with counter clockwise
loop and left axis deviation are additional clues to diagnosis
of DORV-VSD. Echocardiogram and cine-angiogram
confirm the diagnosis, irrespective of the presence or
absence of PAH.
Associated Anomalies
The common associated lesions with DORV include:
(i) coarctation of aorta, (ii) aortic arch atresia, (iii) inter-
ruption of aortic arch, (iv) pulmonic stenosis/atresia, (v) AV
septal defect, (vi) cleft mitral valve, and (vii) multiple VSDs.
Complications
Heart failure and development of pulmonary vascular disease
are the most important complications. Deep cyanosis and
subsequently polycythemia and cerebrovascular accidents
and brain abscess are common complications of the group
presenting as tetralogy of Fallot.
Natural History
In the Taussig-Bing type the course of events resemble or
even worse than that of d-TGA with large VSD. Left sided
lesions like coarctation, mitral valve and LV hypoplasia can
cause more rapid detoriation. The DORV-VSD more or
less behaves like large non-restrictive VSD. Progressive
pulmonary vascular disease leads to Eisenmenger’s
syndrome in both types. Occasionally patients reach young
adulthood. Spontaneous closure of VSD is rare and rather
harmful unlike in simple VSD. The prognosis of DORV-
VSD-PS resembles that of tetralogy of Fallot. The natural
history is more favourable than with DORV without PS. A
number of surgical manoeuvres (arterial switch operation,
Rastelli approach and REV operation) have achieved
satisfactory anatomical repair and long-term survival.
Guidelines for Management
Medical Management
There is no specific medical management for patients of
DORV. A few infants who develop high pulmonary blood
flow leading to CHF need decongestive (digoxin and
diuretics) therapy. In general all patients are advised for
infective endocarditis prophylaxis.
Surgical Management
Type of surgery depends on anatomical abnormalities of
the anomaly. During neonatal or early infancy period
palliative surgery is advised only when total correction
carries high risk.
Palliative surgery: (i) VSD like presentation, here the
infants present with CHF. This group of patient is advised
for pulmonary artery banding except the cases where VSD
is doubly committed type, (ii) Taussig-Bing type of defect,
balloon atrial septostomy or blade atrial septostomy is
advised to increase systemic saturation and to decrease LA
pressure to prevent pulmonary venous congestion, (iii) In
Fallot type (severe pulmonary stenosis) of defect to increase
pulmonary circulation, systemic to pulmonary artery shunt
is advised.
When the infant becomes stable and gradually gains
weight is considered for total surgical correction between
the age 3 to 4 months to 2 to 4 years, depending on the
type of DORV.
An interventricular tunnel with Dacron patch is created
between the VSD and the subaortic outflow tract for
subaortic type of VSD. Similarly an interventricular tunnel
between VSD and PA with arterial switch operation or
Senning operation is advised for Taussig-Bing type of
anomaly and for pulmonary stenosis (TOF like lesion) a
tunnel is created between VSD and the aorta and pulmonary
stenosis is corrected by a patch graft.
SALIENT FEATURES
1. In DORV both the great arteries arise wholly or in large
part from RV.
2. Relations of great arteries and location of VSD form the
basis of classification. The commonest type of abnormal
anatomy is both the vessels go side by side with aorta
to the right of PA and a sub-aortic VSD.
3. Important morphological features are
I. Presence of double conus, a sub-aortic conus result
in aorto-mitral discontinuity
II. More than 50 percent of aortic override over the VSD.
4. Clinical presentations are usually of three types
I. Large VSD without PS and low pulmonary vascular
resistance: Mildly cyanotic infants with cardiomegaly,
 Double Outlet Right Ventricle
CHF, loud P2 and PSM over LPSB. ECG shows left
axis, counter clockwise loop with biventricular
hypertrophy. Echo confirms the diagnosis.
II. TOF type (large VSD with PS): Cyanotic infants with
RV dominance, single S2 and a long systolic murmur
over LPSB suggest DORV. ECG with normal to right
axis, q in I and avL, RVH and slurred S in V5, V6
supports the diagnosis.
III. Taussig Bing anomaly (large sub-pulmonic VSD with
no PS having transposition like physiology): Cyanotic
289
infants with RV dominance, pulmonary EC and short
ESM over upper and PSM over lower LPSB with
prominent MPA on X-ray suggest the diagnosis. ECG
shows clockwise loop, right axis, RA enlargement
and RVH. 2D echo with Doppler confirms the
Taussig Bing type.
5. When pulmonary vascular resistance increases in cases
without PS, it gives rise to Eisenmenger’s syndrome.
6. Besides medical management, total corrective surgery
is the definitive treatment.
 31 Single Ventricle
AN Patnaik

SYNONYMS ventricle. The smaller ventricular chamber that lack any

There are a number of synonyms for this anomaly. The
popular ones are common ventricle, cor-triloculare
biatriatum, univentricular heart, single ventricle and Holmes
heart. Double Inlet left ventricle (DILV) and double Inlet
right ventricle (DIRV) are other terms used to describe
these conditions.
DEFINITION
A precise definition of this condition is still lacking. It is the
physiological definition that is less confusing than the
anatomical one as there are numerous anatomical
possibilities described. The present definition includes all
hearts with atrioventricular connection/s exclusively to one
main ventricular chamber that is well developed left, right
or indeterminate ventricle. In other words when a
ventricular chamber receives both tricuspid and mitral valves
or a common atrioventricular valve, is known as single
atrioventricular connection is called as rudimentary, non-
dominant, incomplete, outlet chamber (OC) or trabecular
pouch. It communicates with the main chamber via a bulbo-
ventricular foramen and connected above mainly with one
(rarely both) great vessels (Fig. 31.1).
As a common practice, ‘Tricuspid atresia’, ‘Mitral
atresia’ and ‘Hypoplastic left/right heart syndromes’ are
treated as distinct entities despite the close anatomical
resemblance to this anomaly. Similarly Heterotaxia syndrome
(either with a splenia or polysplenia) though often contains
single dominant ventricle and the varied associated cardiac
and extra-cardiac anomalies also justify separate
discussions.
HISTORY
Abnormal hearts with only one anatomically and functionally
significant ventricle (the other being too small) were noticed
as early as 1699. One of the earliest reports of this type of

Figs 31.1A to C: Schematic diagram showing different types of single ventricle: (A) LV type with inverted rudimentary RV (OC),
Pulmonary artery (PA) arises from main ventricle (SV), Aorta (Ao) from OC. (B) Holmes Heart, main ventricle is LV type (SV)
giving rise to aorta (Ao), normally positioned rudimentary RV (OC) giving rise to pulmonary artery (PA). (C) Indeterminate type,
there is no rudimentary chamber (LA—left atrium, RA—right atrium, MV—mitral valve, TV—tricuspid valve)
 Single Ventricle
congenital anomaly was by Holmes in 1829. Peacock used
the term double inlet left ventricle in 1855. The clear
definition of single ventricle was given by Van Praagh in
1964.
INCIDENCE
It is a rare anomaly. The reported incidence of this
abnormality is 3.2 percent of patients catheterized for
cyanotic heart disease, with an overall incidence estimated
is 1.1 percent. Males predominate with a sex ratio of 3:1.
In Indian scenario the incidence is 1.05 percent of all major
congenital heart diseases.
EMBRYOLOGY
This complex anomaly develops from the time of the acute
bending of the cardiac loop. When the convex margin is on
right side it is d-loop and right-handed pattern, when it is
on the left side it is l-loop and left hand pattern. Normally
the inlet of the ventricular portion of the embryonic heart
tube is responsible for the left ventricular trabecular
component and outlet for that of right ventricle. Abnormal
development of these components is responsible for the
genesis of single ventricle.
ANATOMICAL ABNORMALITIES/
CLASSIFICATION
A ventricle is considered as normal and well developed if
there is an inlet-portion with normally placed AV valves,
normal supporting sub-valvar tensor apparatus, i.e. Chordae
tendinea and papillary muscles, a trabecular portion (fine
or coarse) and an outlet portion communicating with a great
artery with its valves. The first variable used in classifying
all entities of single ventricle is the morphology of the main
ventricular chamber.
Morphology of the Main
Ventricular Chambers
Left Ventricular (LV) Pattern (Dominant LV)
• Cavity appears smooth with finely trabeculated pattern.
It is seen in 65 to 75 percent of cases.
• In the majority (90%) it occurs with left hand topology
(l-loop). Rudimentary chamber containing right
ventricular (RV) trabeculations lies anterior and to left
291
of LV (inverted) (Fig. 31.1A). In a minority the rudi-
mentary chamber may be right anterior (non-inverted)
(Fig. 31.1B) or rarely directly anterior.
• There is situs solitus, both AV valves enter into large
ventricle and ventriculo-arterial discordance.
• The ventricular septum does not extend up to the crux.
• Commonly the aorta or rarely the pulmonary artery arises
from the RV and there is a communication between
dominant LV and rudimentary RV via ventricular septal
defect (Bulbo-ventricular foramen).
Right Ventricular (RV) Pattern (Dominant RV)
• The trabecular cavity appears irregular with coarse
trabecular pattern. It is seen in 20 to 25 percent of cases.
• It occurs with right hand topology (d-loop).
• The ventricular septum extends up to the crux and the
infundibulum is always associated or is a part of RV.
• It is associated with a rudimentary chamber left and
posterior to the main chamber.
• Both great arteries arise from the main chamber
(DORV).
Indeterminate Pattern
• Clear-cut differentiation of ventricular morphology is
lacking. It is seen in 5 to 10 percent cases (Fig. 31.1C).
• Often lacks any rudimentary chamber.
• May be associated with atrial isomerism/visceral
heterotaxy.
• Abnormal musculature over apical or outlet region. May
be single outlet because of pulmonary atresia.
• Both great arteries arise from the main chamber.
Atrioventricular (AV) Connections
Atrioventricular connections may be double inlet (both atria
open into one ventricle), single inlet (absence of right or
left AV connection) or a common AV valve. Occasionally
one or other AV valve overrides or straddles the division
between the main and rudimentary chamber adding to the
complexity of the anatomy.
Great Artery Connections
These are described as concordant or discordant according
to the morphology of the chamber, they take origin. With
single left ventricle and a rudimentary chamber, discordant
 292 Clinical Diagnosis of Congenital Heart Disease
great arteries (pulmonary artery from single LV and aorta
from rudimentary chamber, also called outlet chamber)
occur in 90 percent of cases. An opposite arrangement
(normally related great artery connection) is
uncommon and this is popularly known as Holmes
heart (Fig. 31.1B) which invariably has sub-pulmonic
stenosis. When main chamber is of right ventricular pattern;
origin of both great arteries from the main chamber (DORV)
is the rule. Concordant connection is very rare. Either artery
can have outflow obstruction, ranging from mild stenosis
to atresia. In absence of pulmonic stenosis the level of
pulmonary vascular resistance is an important determinant
of the hemodynamic status.
Bulbo-ventricular Foramen
It is a term used to describe the entrance (VSD) to the
well-developed outflow chamber in single left ventricular
heart with discordant great arteries. This communication
is generally nonrestrictive. A restrictive foramen constitutes
sub-aortic stenosis.
Coronary Arteries
The course of coronary arteries is usually abnormal.
Depending on where the rudimentary chamber is placed,
the left coronary artery generally arises from left posterior
sinus and the right from right posterior sinus. The major
branches from these are known as delimiting arteries as
they form the outline of rudimentary chamber. Coronaries
need to be defined well either by echocardiography or by
angiography before surgery.
Conduction Defects
The SA or AV node is usually abnormally placed because
of abnormal anatomical position of the atrial and ventricular
septae. Different types of conduction defects including
complete heart block can occur.
Van Praagh’s Classification of Single Ventricles
Type A: Double inlet left ventricle (DILV). Absence of right
ventricular sinus portion.
Type B: Double inlet right ventricle (DIRV). Absence of
left ventricular sinus portion.
Type C: Double inlet ventricle of mixed morphology.
Absence of sinus portion and IVS.
Type D: Double inlet ventricle of indeterminate morphology.
Absence of sinus portion of left and right ventricles as well
as IVS.
Types of DILV
• Type 1: Normally related great arteries.
• Type 2: Right anterior aorta (d- transposition).
• Type 3: Left anterior aorta ( l- transposition).
• Type 4: Left posterior aorta (inversus type).
Type A 3 is the most common variety seen in 90
percent cases.
HEMODYNAMICS
The abnormal hemodynamics is largely decided by degree
of mixing in the main chamber, presence or absence of
pulmonic stenosis (PS), the pulmonary vascular resistance
and the functional status of the single or main ventricular
chamber. AV valve competence and sub-aortic stenosis
also have a role in some cases. Favorable streaming of the
two atrial inflows with little mixing is commonly seen
(especially in single LV with inverted rudimentary chamber).
With low pulmonary resistance the pulmonary blood flow
greatly increases resulting in negligible cyanosis. However,
this beneficial effect is associated with a volume overload
on the single or main ventricular chamber. The work burden
on this ventricle can be further enhanced by sub-aortic
stenosis resulting in early heart failure. Whenever pulmonary
stenosis is present or high pulmonary vascular resistance
develops the pulmonary blood flow diminishes. This results
in less volume overload but increased cyanosis. Atresia or
near-atresia of pulmonary outflow can lead to severe
cyanosis and marked metabolic acidosis. Some patients with
moderate pulmonic stenosis may have a balanced pulmonary
blood flow with little volume overload and exhibit stable
hemodynamics with minimal cyanosis. These patients are
more likely to grow to adulthood.
CLINICAL FEATURES
Infants suffering from single ventricle usually present in
three major clinical forms. Some infants present with
marked cyanosis gradually develop hypoxic spells,
 Single Ventricle 293

restlessness and develop metabolic acidosis (due to severe

PS or pulmonary atresia) and become critically ill particularly
when the ductus closes and ultimately die, if no intensive
care is taken. But these infants may survive if the ductus is
kept open by use of Prostaglandin E1 infusion. Another
group of infants present with mild to moderate cyanosis
(due to mild PS and favorable streaming of blood) and run
an asymptomatic course. These infants attain adulthood
with retarded growth like cases of TOF. On examination
pulses are normal unless coarctation is present. Quiet
precordium, LV impulse, single second heart sound with
loud A2 (due to anteriorly placed aorta), ejection systolic Fig. 31.2: ECG of single ventricle of LV type with inverted
murmur over upper left sternal border are the usual features. outlet chamber, large ‘biphasic’ RS complexes in mid
precordial leads with q in V1 and no q in V5,V6, I and aVL
Occasionally long systolic murmur may be audible over
the lower sternal border due to flow across bulbo-ventricular
foramen (VSD). The third group of infants develops CHF
at early infancy due to high pulmonary flow. These patients
become very symptomatic (respiratory infection, tachypnea,
tachycardia and diaphoresis). Development of refractory
CHF may indicate sub-aortic obstruction or interrupted
aortic arch. There is LV impulse, visible precordial pulsation,
normally split loud second sound and prominent long
systolic murmur grade-3-4/6 on left parasternal area is
audible due to flow across the VSD (bulbo-ventricular
foramen). Mid-diastolic flow murmur at lower sternal border Fig. 31.3: ECG of single ventricle of RV type, the QRS axis is
and over apex is also audible. These infants may survive superior (right upper quadrant) with tall ‘R’ waves in V1, V2 and
deep ‘S’ waves in V5, V6
with retarded growth and subsequently develop features
of pulmonary vascular disease and Eisenmenger’s leads (Fig. 31.2) and absent Q waves in the left precordium
syndrome. With development of pulmonary vascular disease (like corrected TGA). T-inversion when present in left
the intensity of systolic murmur decreases but persists due precordial leads indicates sub-aortic stenosis. Features of
to obligatory flow across the bulbo-ventricular foramen. pre-excitation syndromes like WPW or LGL and in some
The split narrows with accentuation of P2 and an early cases supraventricular arrhythmias may be seen. In single
diastolic murmur may appear due to PR.
ventricle of RV type, the QRS axis is commonly superior
with tall ‘R’ waves in right ventricular leads and deep ‘S’
INVESTIGATIONS
waves in lateral leads (Fig. 31.3).
Electrocardiography
Radiography
In single morphologic left ventricle without pulmonic
stenosis, the site of outlet chamber influences the electro- Visceral situs and atrial situs may be inferred from gastric
cardiographic features. With non-inverted outlet chamber, air bubble and bronchial anatomy (penetrated films). In the
important features are left axis deviation, left atrial or biatrial group with increased pulmonary arterial flow, the
enlargement, left ventricular hypertrophy, stereotyped radiological signs of increased vascularity are noticed in
precordial QRS complexes and R waves are of large the lateral lung fields. “Waterfall” appearance (Fig. 31.4B)
amplitude. When there is inverted outlet chamber there may is noticed due to lifted RPA caused by dilated MPA which
be PR interval prolongation, an inferior or rightward QRS is not border forming due to malposition. With pulmonic
axis, prominent R waves in right precordial leads, large stenosis the vascularity may be normal or diminished with
‘biphasic’ RS (stereotype) complexes in mid-precordial normal or small cardiac silhouette (Fig. 31.4A). A convex
 294 Clinical Diagnosis of Congenital Heart Disease

A B

Figs 31.4A and B: X-ray chest showing, (A) Single ventricle with PS and right aortic arch. (B) Single ventricle with high
pulmonary flow, arrow shows high origin of right pulmonary artery (waterfall appearance) (Courtesy: Dr PK Pati, CMC, Vellore)

shadow (distinctive bulge) on left upper border due to
inverted rudimentary chamber giving origin to the aorta is
sometimes seen. When pulmonary atresia is present a dilated
leftward ascending aorta may be very prominent.
Echocardiography
The parasternal long axis, apical four chamber and in infants
subcostal views are used in identifying the visceral and
atrial situs, morphology of the main and rudimentary
chambers, atrioventricular and ventriculoarterial
connections, (Fig. 31.6) absence or presence and degree
of the outflow tract obstruction. The AV valves, venous
drainage, the pulmonary artery anatomy and ventricular size
and function also need meticulous evaluation. Aortic arch
and coarctation if present can be well visualized in
suprasternal views.
The presence of single ventricular chamber into
which two AV valves open is the key findings for single
ventricles besides morphology of single ventricle
(Fig. 31.5). The size and gradient across bulbo-ventricular
foramen are to be measured, size of ASD and anatomy of
AV valves are to be checked before any surgical procedure.

A B

Figs 31.5A and B: Echocardiogram of single ventricle. (A) LV type, both AV valves opening to the single ventricle, rudimentary
RV (OC) in normal position (Holmes Heart) (B) Single ventricle of RV type, a common AV valve opening to a coarsely trabeculated
ventricle, diastolic and systolic frames are shown side by side. *indicates rudimentary LV
 Single Ventricle
Fig. 31.6: Apical view shows single ventricle of RV type in left
panel with a common AV valve, right panel shows double
outlet RV, aorta (Ao) and Pulmonary artery (PA) arising from
the single ventricle (Courtesy: Dr SK Sahoo, Cuttack)
Cardiac Catheterization
Cardiac catheterization is planned in view of the echo-
cardiographic information. It helps in accurate assessment
of the ventricular pressures, presence and degree of the
obstruction to the pulmonary blood flow and calculation of
PVR index. The catheter freely enters into both great arteries
from the dominant ventricle. In absence of PS, systemic
oxygen saturation is generally about 80 to 90 percent. If
PS is significant systemic saturation is very low. In single
ventricle favorable streaming of blood is observed. But when
oxygen saturation is decreased or same in both great arteries
associated conditions like large ASD, TAPVC or pulmonary
atresia are suspected. Angiogram is complementary to the
echocardiographic information. AV valves (number, size
and position), VSD, pulmonic stenosis (site and degree),
origin of pulmonary arteries , the atrioventricular relations,
coronary anatomy and state of systemic and pulmonary
venous return can be precisely defined in appropriate
angiograms.
MRI/MR Angiography
These newer imaging techniques are performed in a limited
number and they may be warranted whenever the
conventional echocardiograms or cine-angiograms are not
clear about some surgically important issues like pulmonary
artery anatomy, pulmonary venous drainage and or
295
ventricular morphology. Coarctation of aorta as well as
anomalies associated with heterotaxia syndrome is best
evaluated by modern imaging modalities. MRI is a very
sensitive tool to define ventricular function preoperatively.
DIAGNOSIS
Precise clinical diagnosis is not always feasible as a number
of anomalies produce similar clinical features. A cyanotic
infant/child with LV apical impulse with negligible RV
pulsations at the left sternal border or sub-xiphoid area, a
perceptible impulse in the third left interspace, a palpable
second heart sound and a long systolic murmur over left
lower sternal border suggest the commonest type of single
ventricle (with LV morphology). If PS is present it closely
mimics TOF. ECG is suggestive in many cases but
echocardiogram with Doppler imaging confirms the
diagnosis.
DIFFERENTIAL DIAGNOSIS
Single ventricle with PS has to be differentiated mainly from
TOF, Tricuspid atresia, TGA-VSD-PS and truncus with
decreased pulmonary blood flow. When no PS is associated,
large VSD, large PDA, complete transposition with VSD,
Common AV canal defect, DORV-VSD and also truncus
arteriosus are to be differentiated. Clinical differentiation is
difficult in many cases. Investigations like echocardiogram
and in some cases cine angiogram are mandatory for
confirmation and detail evaluation.
COMPLICATIONS
The underlying hemodynamics dictates the complications.
Those with increased pulmonary blood flow ultimately
develop pulmonary vascular disease and its accompanied
complication; like RV failure. Those with severe PS will
show cyanotic spells and problems associated with
polycythemia like thromboembolic episodes, cerebral
hemorrhage and rarely brain abscess. The dominant
ventricle may develop ventricular dysfunction as age
advances. Arrhythmias like supraventricular arrhythmias,
pre-excitation and complete heart blocks may be
encountered occasionally. Infective endocarditis is rare.
 296 Clinical Diagnosis of Congenital Heart Disease
NATURAL HISTORY AND PROGNOSIS
Natural history depends on the type of ventricle, state of
outflow obstruction and associated anomalies. It was
estimated that 57 percent survived at 1 year and 45 percent
at 5 years except a small subset with protected pulmonary
vasculature who may show 90 percent chance of survival
at 10 years. Systemic outflow obstruction at any level can
cause early death. A few cases that survive into adulthood
are mostly from Type A group. A few female patients
tolerating multiple pregnancies are reported. In the current
era of effective palliative /corrective procedure the natural
history is taking a more favorable turn in many cases.
GUIDELINES FOR MANAGEMENT
Medical Management
As soon as single ventricle is diagnosed, the neonate or the
infant is advised for admission preferably into intensive care
unit. Those neonates who are mostly duct dependent and
develop marked cyanosis, before developing further
complications, prostaglandin E1 infusion should be started
to keep the duct patent. Metabolic acidosis is corrected
and adequate ventilation is provided. Ventilatory support, if
necessary is also instituted. A few infants who develop
CHF are treated by conventional ant-failure drugs (Digoxin
and diuretics) and with inotropic supports.
Surgical Management
Palliative surgery is an immediate measure to save the life.
A systemic to PA shunt (modified Blalock-Taussig shunt),
is created in cases of severe PS or pulmonary atresia .In
some cases balloon atrial septostomy is also done.
Pulmonary artery banding is done when CHF is present.
But these palliative procedures have distinct disadvantages.
Corrective surgery is more definitive treatment. Septation
types of repair or modified Fontan (Fontan-Kreutzen
operation) are common procedures preferably done at 3 to
4 years of age. Infants with coarctation of aorta or severe
aortic stenosis need Norwood operation even during neonatal
period. AV valve regurgitation if present is also corrected.
SALIENT FEATURES
1. When one well-developed ventricle receives both
tricuspid and mitral valves or a common AV valve, it is
known as ‘Single ventricle”.
2. The well-developed ventricle may resemble LV, RV or
it may be indeterminate. The other ventricle may be
present as a rudimentary chamber called ‘outlet
chamber’.
3. When the single ventricle is LV type (common), in
90 percent of cases there is ventriculoarterial
discordance. PA arises from single morphologic LV and
aorta from the rudimentary RV. In 10 percent there is
concordant ventriculoarterial connection present called
‘Holmes heart’.
4. In single ventricle of RV type, both aorta and PA arise
from the single morphologic RV (DORV).
5. The VSD between dominant and rudimentary ventricles
is known as ‘bulbo-ventricular foramen’, when
restrictive, it may act as a sub-aortic obstruction (aorta
from rudimentary RV receiving blood from single LV
through this defect)
6. Presence of PS, sub-aortic obstruction, PVR and
ventricular function, all these factors determine clinical
outcome.
7. Stereotype QRS complexes in precordial leads are
characteristic ECG finding. Type of dominant ventricle,
location of rudimentary chamber and pulmonary flow
influence X-ray picture. However echocardiography is
diagnostic. Angiocardiogram is necessary before
surgery.
8. Besides intensive medical care, surgery is the definitive
way of management.
 32 Truncus Arteriosus
SYNONYMS
Common truncus arteriosus, persistent truncus arteriosus,
truncus arteriosus communis, common arterial trunk.
DEFINITION
This anomaly consists of a single arterial trunk exiting from
the heart through a common valve, giving origin to aorta
(systemic circulation), pulmonary artery (pulmonary circu-
lation) and coronary arteries (coronary circulation).
HISTORY
The earliest report was by Wilson in 1798. Buchanan for
the first time described truncus arteriosus in detail in 1864.
The definition and classification of truncus arteriosus was
in confusion till Lev and Saphir’s classification in 1942.
The first successful repair of truncus arteriosus was done
by Mc Goon in 1967.
EMBRYOLOGY
At 4 weeks of gestation when the embryo is 4 to 5 mm in
length, two spiral ridges appear which divide the common
truncus into aorta and pulmonary artery. Failure of septation
of the cono-truncal segment gives rise to this anomaly.
Septal structures do not develop properly in the face of
inadequate migration from the neural crest. Abnormal conal
septation produces a large ventricular septal defect. The
alternate theory of failure of formation of the subpulmonary
conus postulated by Van Praag and Van Praag.
ETIOLOGY
The etiology is heterogeneous. Besides environmental
factors (infants of diabetic mothers and the embryonic
exposure to retinoic acid belong to a high-risk group)
teratogens and genetic chromosomal factors like deletion
Anita Saxena
of 22q11 are responsible. High recurrences of congenital
abnormalities occur in siblings of children born with truncus.
It is also noted that truncus and double outlet of right
ventricle occur more often in off springs of diabetic mothers.
An association of truncus arteriosus is seen with
CHARGE syndrome, DiGeorge syndrome and CATCH 22.
It is believed that chromosomal damage interferes with the
migration of neural crest cells in such cases.
INCIDENCE
The incidence of truncus arteriosus is 1.4 to 2.1 percent
of all cases of congenital heart disease. Prevalence rates
vary from 0.04 to 0.09 cases per 1000 live births. Incidence
varies greatly because these infants hardly reach their first
birthday. Both sexes are equally affected.
CLASSIFICATION
Several classifications have been described for truncus
arteriosus. These are primarily based on arrangement of
origin of pulmonary arteries. The most commonly used
classification is the one given by Collet and Edwards in
1949.
Collet and Edwards Classification (1949)
Depends on the origin of pulmonary arteries (Fig. 32.1).
Type I: A single pulmonary trunk arise from the postero-
lateral aspect of the common trunk.
Type II: The left and right pulmonary arteries arise
separately, but closely from the posterior wall of trunk.
In several cases, the morphology is intermediate,
sometimes called 1 and ½ type.
Type III: Right, left or both pulmonary arteries arise
independently from either side of truncus.
 298 Clinical Diagnosis of Congenital Heart Disease

Rarely only one pulmonary artery arises from the
common trunk, the other is absent, may have been supplied
by the ductus arteriosus previously. The absent pulmonary
artery is on the same side of arch of aorta (unlike in tetralogy
of Fallot, where the absent pulmonary artery is opposite to
the side of arch of aorta).
Physiological Classification (Gasul 1966)
Group I: High pulmonary blood flow with low pulmonary
vascular resistance.
Group II: Normal or slightly increased pulmonary blood
flow due to increasing pulmonary vascular resistance.

Type IV: No pulmonary artery arise from the common trunk
and lungs are supplied by way of systemic to pulmonary
collaterals, this type was also called pseudotruncus
arteriosus which is a misnomer and no longer considered
as a type of truncus arteriosus.
Note: Type IV is an embryologically different form of anomaly
known as ‘pulmonary atresia with VSD’ therefore discussed
in a separate chapter.
Van Praagh Classification (1965) A1 to A4
A1 is similar to Type I, A2 resembles Type II and Type III
of collect and Edwards.
In A3 one PA is from truncus and the other from PDA/
collaterals.
A4 is truncus with interrupted aortic arch.
Hemitruncus
This is a term often used when one pulmonary artery arises
from the ascending aorta and the other comes off normally
from main pulmonary artery arising from the right ventricle.
Therefore there are two separate semilunar valves unlike in
truncus arteriosus.
Group III: Low pulmonary blood flow due to ostial narrow-
ing at the origin of pulmonary arteries or due to progressive
pulmonary vascular disease.
PATHOLOGY
The truncal valve overrides a large ventricular septal defect
and is usually committed to both the ventricles. The valve
is often abnormal, having 2 to 5 cusps (in 70% of cases
there are 4 cusps). It is generally thickened, dysplastic,
polypoid and has unequal cusps. Truncal valve insufficiency
is common due to abnormal morphology of the valve and
due to prolapse of unsupported cusps as there is a large
ventricular septal defect beneath. Truncal stenosis is
relatively less common. There is fibrous continuity between
truncal valve and mitral valve.
The pulmonary arteries arise from the common trunk
in different manners as mentioned in the classification and
maintain pulmonary blood flow to lungs.
Hypoplasia of aortic arch with or without coarctation
may be associated. Interruption of aortic arch is seen upto
one fifth of cases at autopsy. In such situation ductal flow
is the sole supply of blood to the descending aorta. The

Figs 32.1 Type I to III: Schematic diagram of different types of truncus arteriosus: (Type I) Main pulmonary artery arising from the
posterolateral aspect of common trunk (T). (Type II) Left pulmonary artery (LPA) and right pulmonary artery (RPA) arising
separately from the posterior aspect but close together. (Type III) LPA and RPA arise separately from lateral aspect of the
common trunk. Coronary arteries seen arising from the trunk in all types. Arrow indicated a large VSD with overriding of common
trunk (RA—right atrium, RV—right ventricle, LA—left atrium, LV—left ventricle)
 Truncus Arteriosus
aortic arch is right sided in one third of cases of truncus
arteriosus.
Coronary abnormalities are also noted frequently in
truncus arteriosus. This knowledge is important at the time
of surgical repair. The coronary arteries usually arise higher
and more posterior. Left coronary takes origin close to
pulmonary ostia and sometimes there is a single coronary
artery. The coronary circulation is left dominant in one
third of cases, which means that the posterior descending
coronary artery arises from the left circumflex.
HEMODYNAMICS
Both ventricles pump blood into the common trunk, which
overrides the ventricular septal defect. Therefore the
systolic pressures in ventricles, aorta and pulmonary
artery are same. Hemodynamics changes depend upon
amount of pulmonary flow and severity of truncal
regurgitation.
Blood flow to pulmonary and systemic circulation
depends upon the resistance to the flow in their respective
circulation. Soon after birth the systemic resistance is
increased because the low resistance umbilical placental
circulation is removed. On the other hand, the pulmonary
vascular resistance falls due to inflation of lungs. Therefore
the pulmonary arterial flow increases considerably. The
other factor that control pulmonary flow is the presence of
pulmonary ostial narrowing. The pulmonary to systemic
flow ratio is the chief determinant of systemic arterial
saturation after birth. If the pulmonary flow is adequate,
the systemic saturation becomes normal.
Infants born with truncus arteriosus develop congestive
heart failure within first week of birth. This is due to rapid
fall of pulmonary vascular resistance and increasing
pulmonary blood flow. For this reason the cyanosis is mild
or negligible. In normal infants the fall of pulmonary
resistance is gradual and it takes longer time usually two to
three weeks. Increased pulmonary blood flow results in
high venous return to left atrium and left ventricle. Left
ventricular volume overload causes tachypnea and heart
failure. Truncal regurgitation also contributes to volume
overload of both ventricles. In cases with interruption of
aortic arch, narrowing or closure of ductus arteriosus can
be life-threatening resulting in cardiogenic shock or even
death. In cases with ostial stenosis of both pulmonary
arteries, the cyanosis is deeper as the blood flow in
pulmonary circulation is decreased.
299
Over a period of time, the volume overload of ventricles
changes into pressure overload as obstructive changes
appear in the pulmonary vasculature. An increased
pulmonary resistance decreases the pulmonary blood flow
and therefore cyanosis increases giving rise to
Eisenmenger’s syndrome.
CLINICAL FEATURES
Most of the cases with truncus arteriosus present in early
infancy with congestive heart failure. These infants present
with failure to thrive, feeding difficulties, excessive sweating
and tachypnea. Repeated respiratory infection is common.
Examination reveals a hyperdynamic precordium,
cardiomegaly, hepatomegaly and minimal cyanosis. The
cyanosis may not be detected during rest and becomes
apparent only during crying. Pulse may be of high volume
in cases with truncal regurgitation. Left parasternal heave
may be present.
On auscultation, the first heart sound is normal; the
second heart sound is loud and single. Loudness is due to
dilatation of the trunk and single sound because of closure
of only one set of valve. A prominent ejection click may be
audible during opening of truncal valve. A systolic murmur
is always present but varies with duration and intensity. A
loud ejection systolic (not pansystolic) murmur grade
3-4/6 is present over left third and fourth sternal border.
This murmur is most likely produced due to increased flow
across truncal orifice. Murmur due to VSD is rare. In a
few cases no murmur or a soft murmur is audible due to
absence of turbulent flow. A low pitched mid diastolic
murmur is audible over apex due to increased flow through
normal mitral valve. In some cases an early diastolic murmur
due to truncal regurgitation is audible over upper left sternal
border. Presence of a systolic murmur together with an
early diastolic murmur sometimes gives the impression of
a to and fro murmur.
The mortality is high for those not operated early. A
small percentage of infants however survive and develop
features of pulmonary vascular obstructive disease. These
children may become asymptomatic as the pulmonary
vascular resistance rises and the pulmonary blood flow
decreases. Gradually cyanosis becomes deeper and
symptoms of exertional dyspnea, easy fatigability and chest
pain appear. A high pulmonary vascular resistance results
in Eisenmenger’s syndrome. They may also experience
 300 Clinical Diagnosis of Congenital Heart Disease

hemoptysis. Physical examination reveals deep cyanosis, a

loud second heart sound, a prominent click and a short
ejection systolic murmur over upper left sternal border.
The degree of cyanosis is a good clinical indicator of
pulmonary vascular obstructive disease.

INVESTIGATIONS
Electrocardiography
The rhythm is usually sinus. P waves are tall and peaked in
II, III and aVF leads indicating right atrial enlargement.
Right axis deviation is common. Right ventricular
hypertrophy is universally present. In infants with large
pulmonary blood flow, there may be evidence of additional
left ventricular hypertrophy with volume overload, seen in
form of prominent q waves in V5 and V6.

Radiography
The picture on X-ray chest varies with the magnitude of
pulmonary blood flow. Cardiomegaly with absence of main
pulmonary artery segment (deep pulmonary bay) and
increased pulmonary vascularity are seen in infants
(Fig. 32.2). A high origin of a dilated left pulmonary
artery may give rise to the “comma sign” as described
by Abraham. Aortic arch is right sided in one third of
cases. A right aortic arch with increased pulmonary
blood flow is strongly suggestive of truncus arteriosus.
If one pulmonary artery is absent or has tight ostial stenosis,
the lung vascularity would be asymmetrical, being decreased
on side of stenosed or absent pulmonary artery and
increased on the other side. In cases with pulmonary
vascular obstructive disease, the central pulmonary arteries
are enlarged with pruning or tapering of distal branches.
Echocardiography
Echocardiography is the most helpful diagnostic tool. In
neonates and small infants, echocardiography is able to
provide complete information in majority and further tests
to define the truncus are generally not needed. Multiple
views in parasternal, apical, subcostal and suprasternal
regions are necessary to define the entire anatomy. Doppler
and color flow imaging are necessary to get complete details.
Fig. 32.2: Chest X-ray of truncus arteriosus showing cardio-
megaly with LV contour, main pulmonary artery is not boarder
forming; there is increased pulmonary vascularity
Important echocardiographic findings that need to be
defined are:
1. Visualization of only one outlet from the heart as seen
in various views.
2. Abnormal, thick, multicuspid semilunar (truncal) valve
which may be regurgitant and/or stenosed (on short
axis (Fig. 32.3B) shows number of cusps and color
Doppler in long axis demonstrates truncal regurgitation).
3. Large nonrestrictive ventricular septal defect (truncal
valve overrides the VSD) (Fig. 32.3A).
4. Main or branch pulmonary arteries from the posterior
aspect of common trunk, depending on the type of
truncus best seen in short axis view. Figure 32.4 shows
origin of pulmonary artery from the common trunk in
apical and subcostal views.
5. Aortic arch abnormalities like right arch and interruption
of arch are important findings easily detected.
6. Coronary anatomy.
7. Any other lesions those are associated to be ascertained
mainly before surgery.
Antenatal diagnosis of truncus arteriosus is also possible
by fetal echocardiography.
 Truncus Arteriosus 301

A B

Figs 32.3A and B: Echocardiography of truncus arteriosus: (A) Parasternal long axis view showing a large VSD (arrow) with
override of trunk (T) (LA—left atrium, LV—left ventricle, RV—right ventricle). (B) Parasternal short axis view showing thick cusp
of truncal valve (TV)

A B

Figs 32.4A and B: Echocardiography of truncus arteriosus: (A) Apical view, main pulmonary artery (MPA) arising from the trunk
and dividing to left (LPA) and right pulmonary artery (RPA), left panel shows 2D image, color flow to pulmonary artery is seen
in the right panel. (B) Modified subcostal view in another patient showing the pulmonary artery (arrow) arising from the common
trunk (Ao—aorta, PA—pulmonary artery)

Cardiac Catheterization
As mentioned earlier cardiac catheterization is not a
necessary investigation and is required only under certain
special circumstances. Indications for catheterization are:
1. Doubt about anatomical issues by echo, e.g. coronary
anatomy, pulmonary artery anatomy.
2. Doubt about operability and pulmonary vascular
resistance has to be calculated e.g. when moderate to
severe cyanosis is clinically present or in children beyond
9 months to 1 year.
A catheter is passed from the femoral vein to right heart
chambers and then into common trunk. Pressures and
oximetry data are collected. It may be difficult to pass the
catheter into pulmonary arteries from the right ventricle
side. Entry into pulmonary arteries is generally easier through
retrograde catheter in aorta, when passed from femoral
artery. The pulmonary arterial resistance is very important
determinant to see for operability. Gradient across truncal
valve must be determined. Left ventricle is entered retro-
gradely from aorta. The systolic pressures in both ventri-
 302 Clinical Diagnosis of Congenital Heart Disease
cles, trunk, aorta and pulmonary arteries are generally
identical. Similarly, the oxygen saturations in aorta, trunk
and pulmonary arteries are very close to each other. In
case of doubt about the operability, the pressure and
oximetry data are repeated with inhalation of 100 percent
oxygen and /or nitric oxide to see for any fall in pulmonary
vascular resistance.
Angiographic pictures are made in the trunk and left
ventricle using various angled views. Left ventricular angio-
gram shows a large ventricular septal defect, single outlet
with overriding truncal valve.
Angiogram in common trunk shows origin of coronary
arteries, pulmonary artery and it continues as aorta. Depen-
ding upon the origin of main or branch pulmonary arteries,
one can also determine the type of truncus. This angio is
important in quantifying the degree of truncal valve
regurgitation if any. Aortic arch anomalies like right arch
or interruption are also delineated.
DIAGNOSIS
Minimal cyanosis, high volume jerky pulses, signs of
congestive heart failure, loud and single second heart sound,
prominent ejection click and ejection systolic murmur
2-4/6 with or without early diastolic murmur (EDM) over
left sternal border are diagnostic features of truncus
arteriosus. ECG shows right ventricular or biventricular
hypertrophy with LV volume overload pattern.
Roentgenography features of right-sided aortic arch,
increased pulmonary vascularity suggest truncus arteriosus.
It is cross sectional echocardiography with color Doppler
showing large VSD directly under truncal valve, large single
artery arising from the heart and origin of pulmonary artery
from the common trunk confirm the diagnosis.
DIFFERENTIAL DIAGNOSIS
Truncus arteriosus should be differentiated from lesions
presenting with cardiac failure in early infancy with or
without mild cyanosis. These are:
1. Acyanotic congenital heart defects such as a large patent
ductus arteriosus, large ventricular septal defect, and
aorto-pulmonary window. The differentiation includes
predominant left ventricular enlargement, absence of
ejection click, a normal or widely split second heart
sound. ECG shows minimal right ventricular hyper-
trophy if any. The X-ray shows a prominent pulmo-
nary artery segment in the normal place. A right aortic
arch is almost never seen with any of these lesions.
2. Cyanotic congenital heart defects presenting with
congestive heart failure and minimal cyanosis, like double
outlet right ventricle or single ventricle without
pulmonary stenosis. These may be difficult to differen-
tiate by clinical examination, ECG or X-ray. It is high
volume jerky pulses, prominent ejection click, an early
diastolic murmur at the base and a right-sided aortic
arch favor truncus arteriosus. In all these cases
echocardiogram confirms the diagnosis.
COMPLICATIONS
1. Congestive heart failure
2. Repeated respiratory infections
3. Increasing cyanosis and hypoxemia
4. Brain abscess
5. Cerebrovascular accidents
6. Infective endocarditis.
Associated Lesions
Cardiac: Aortic arch defects, interrupted aortic arch,
coronary abnormalities.
Noncardiac: DiGeorge Syndrome, 22q 11 deletion,
CHARGE Syndrome, CATCH 22.
NATURAL HISTORY
Seventy five percent of infants die within the first month
of life either due to congestive heart failure or broncho-
pneumonia. The average life span is 5 weeks. Survival up
to one year is seen in only 15 percent of cases. Surgery has
changed the outlook and natural history for this anomaly.
Early surgery is indicated due to early onset of pulmonary
vascular obstructive changes.
GUIDELINES FOR MANAGEMENT
Medical Management
This involves mainly control of congestive heart failure (with
digoxin and diuretics), correction of acidosis, treatment of
respiratory infections. Particularly adequate diuretics and
also balanced nutritional diet help the infants to recover
early from congestive heart failure before surgical
intervention. In cases with interruption of aortic arch,
prostaglandin infusion is indicated to keep the ductus
 Truncus Arteriosus
arteriosus patent. Infective endocarditis prophylaxis is
advised.
Surgical Management
Management is essentially surgical repair. Early surgery is
indicated. Definitive repair using conduit from right ventricle
to pulmonary artery and closure of ventricular septal defect
is preferable to pulmonary artery banding procedure.
Palliative surgery is only advised in cases of infants having
large pulmonary blood flow and congestive heart failure.
The mortality of definitive repair is less than 10 percent in
good surgical centers. If severe stenosis or regurgitation
of truncal valve is present, one may have to resort to valve
replacement in a small baby. The optimal age for this
corrective surgery is preferably before three months of
age. As the child grows, the right ventricle to pulmonary
artery conduit tends to degenerate and calcify. It also gets
stenosed and needs to be replaced, sometimes more than
once.
303
SALIENT FEATURES
1. In truncus arteriosus a single arterial trunk leaves the
heart through a common valve (truncal valve) and gives
origin to coronary arteries, pulmonary artery or arteries
and continues as aorta.
2. Popular classification is by Collet and Edwards where
type of origin of pulmonary artery forms the basis of
classification.
3. Truncal valve overrides a large VSD. Both ventricles
push blood to the common trunk through the VSD.
Truncal regurgitation is common.
4. Neonates or infants develop CHF due to high
pulmonary flow. An infant with CHF, if an early diastolic
murmur is audible, there is high suspicion of truncus
arteriosus.
5. ECG shows biventricular enlargement. X-ray
evidences of cardiomegaly, LV contour, absent PA
shadow and plethoric lung fields are present.
6. Echocardiography confirms the diagnosis by
demonstrating the common trunk, site of pulmonary
arterial origin from the trunk, a large overriding VSD
and truncal valve regurgitation if present.
7. Management is essentially surgical repair.
33 Complete Transposition of
the Great Arteries
Rohit Manojkumar, M Satpathy

INTRODUCTION
Complete transposition of the great arteries (TGA) is a
congenital cardiac anomaly in which the aorta arises entirely
or in large part from the right ventricle (RV), and the
pulmonary artery arises entirely or in large part from the
left ventricle (LV) creating discordant ventriculoarterial
connection (Fig. 33.1).

HISTORY
The first morphologic description of TGA was given by
Mathew Baillie in 1797. The term transposition of great
arteries was given by Farre in 1814. However early clinical
descriptions of this entity came from Fanconi in 1932 and
Taussig in 1938. Major advances in treatment were achieved
with the introduction of balloon atrial septostomy (BAS) in
1966 by Rashkind and Miller Jatene, et al in 1975 Fig. 33.1: Schematic diagram of complete transposition of great
successfully used the arterial switch procedure in infants arteries. Aorta (Ao) arises from right ventricle (RV), pulmonary
having TGA and ventricular septal defect (VSD) for the artery (PA) from left ventricle (LV), both great arteries are
first time. parallel to each other and connected by a PDA. There is normal
position of viscera, atria and ventricles (RA—right atrium, LA—
INCIDENCE left atrium, L—liver, S—stomach, Sp—spleen)

Complete TGA accounts for 5 to 8 percent of congenital
cardiac malformations and for 25 percent of naturally
occurring deaths from congenital heart disease in the first
year of life. The incidence has been estimated at 1 in 2300
to 1 in 5100 live births. The associations of TGA with
infants of diabetic mothers or prenatal exposure to sex-
hormone therapy have not been proven. It is more common
in later pregnancies compared to first pregnancy. There is
male preponderance with a ratio of 4:1.
most accepted one. Normally, the sub-aortic portion of
conus is absorbed and sub-pulmonic portion persists which
moves anteriorly to connect RV to pulmonary artery. In
TGA the subaortic portion of the conus persists which
brings the aorta anterior to be connected to the anterior
ventricle (RV). At the same time sub-pulmonic conus is
absorbed so that pulmonary valve remains posterior with
continuity to mitral valve. As a result the pulmonary artery
originates from LV.

EMBRYOLOGY PATHOPHYSIOLOGY
The sequence of events leading to this disease remains In complete TGA, there is situs solitus, concordant
unknown. However the theory of conal inversion is the atrioventricular connections (right atrium communicates
 Complete Transposition of the Great Arteries
to right ventricle and left atrium to left ventricle) but the
ventriculoarterial connections are discordant. Therefore the
systemic venous blood flows to the aorta and pulmonary
venous blood to the pulmonary artery. Simple TGA is term
used when the TGA patients have intact ventricular septum
(or extremely small VSD) and there is no other significant
associated lesion. Complex TGA is present when the
anomalies like large VSD, large PDA, and significant left
ventricular out flow tract obstruction (LVOTO), hypoplasia
of RV, pulmonary or tricuspid atresia are associated.
Complete TGA is also known as d-TGA, the terms are
synonymous and used interchangeably. “d” indicates
developmental d-bulboventricular loop, which places aorta
rightward and anteriorly in respect to pulmonary artery.
However in about one third of cases the aorta is directly
anterior, anterior and to the left, or very rarely even posterior
to the pulmonary trunk.
In TGA, the right ventricular wall is considerably thicker
than normal at birth and increases further in thickness with
age. When the ventricular septum is intact and there is no
significant pulmonary stenosis, the left ventricular wall
thickness at birth remains static. Within a few weeks after
birth, the LV wall has less than normal thickness and
becomes relatively thin-walled by 2 to 4 months of age.
When a VSD is present, decrease left ventricular wall
thickness is relatively less marked and remains well within
the normal range during the first year of life. In infants
with TGA, the left ventricular cavity is usually ellipsoid at
birth, but soon becomes banana-shaped. Alterations in the
left ventricular functions occur with this geometric change.
CORONARY ARTERIES
The origin and course of the main coronary arteries have
assumed major anatomic importance because of the arterial
switch operation. The common coronary artery anomalies
are: circumflex from RCA (16%); single RCA (4%); single
LCA (2%); inverted coronaries and intramural coronary
arteries. In addition, multiple ostia may be present in a single
sinus, the epicardial course may be unusual, or there may
be complete absence of one of the branches e.g., absence
of circumflex coronary artery. Sinus node artery arising
from RCA carries surgical importance (during surgical atrial
septostomy or Mustard procedure).
305
ASSOCIATED LESIONS
About half of the patients with TGA have no other anomaly
except a persistent foramen ovale or a PDA. VSD occurs
in about 40-45 percent patients, but one-third of these
defects are small and have little hemodynamic significance.
A combination of VSD and LVOTO occurs in 10 percent
patients. Isolated LVOTO is found in 5 percent patients.
Some VSD close in the first few months of life. Some
patients without LVOTO during the first few weeks of life
develop obstruction thereafter.
Ventricular Septal Defect
The commonest associated anomaly is VSD. The location
and type of VSD is same as in hearts with normal connections
(perimembranous—33%, malalingned—30%, muscular—
27%, AV canal—5%, outlet—5%). Perimembranous and
muscular VSDs may close spontaneously or become
smaller. TGA with large VSD and Taussig-Bing anomaly
(DORV + large sub-pulmonic VSD) are anatomically
different but have similar physiology. Overriding of the
pulmonary artery is produced by anterior malalignment
VSDs. The subaortic stenosis caused by the anterior
malalignment of the infundibular septum is frequently
associated with aortic arch hypoplasia, coarctation or
complete interruption of the aortic arch.
Left Ventricular Outflow
Tract Obstruction (LVOTO)
The development of LVOTO produces subpulmonary
obstruction, which is an important association in patients
with TGA. The obstruction may be dynamic or anatomic.
It occurs at birth or within a few days in only 0.7 percent
of patients with TGA and intact ventricular septum and in
15 to 20 percent patients with TGA and VSD. LVOTO
becomes more severe or develops after birth in others, to
reach an overall prevalence of 30 to 35 percent.
Other Associated Anomalies
Incidence of PDA is more in patients with TGA than with
normal connections; present in 50 percent cases at about 2
weeks but is functionally closed by one month. A large
PDA is associated with an increased incidence of pulmonary
vascular disease. Mitral valve abnormalities are associated
 306 Clinical Diagnosis of Congenital Heart Disease

in 20 to 30 percent of cases. These abnormalities include

partial or complete cleft of the anterior mitral leaflets,
straddling of the mitral valve, and abnormal papillary
muscles. Mitral valve abnormalities are rarely functionally
significant. Tricuspid valve anomalies are uncommon.
Juxtaposition of atrial appendages in left side is sometimes
seen in TGA. When there is juxtaposition of atrial appendage,
male preponderance of TGA is lost.

PHYSIOLOGY Figs 33.2A and B: Circulatory pathway in (A) in normal

individual, (B) in complete transposition of great arteries.
The systemic circulation is characterized by flow from the Double-end arrows between RA and LA indicates ASD, RV
right ventricle into the aorta →systemic venous bed → and LV indicates VSD, PA to Ao indicates PDA
venacavae →right atrium and back to right ventricle. The
hypoxemia secondary to inadequate mixing at the foramen
pulmonary circulation is characterized by flow from the
ovale level is usually present. When the interatrial or inter-
left ventricle into the pulmonary trunk →pulmonary capillary
ventricular shunting sites are of adequate size, the level of
bed →pulmonary veins →left atrium and back to the left
arterial oxygen saturation is influenced primarily by the ratio
ventricle. Oxygenated blood recirculates in pulmonary
of pulmonary to systemic vascular resistance. When pulmo-
circulation and deoxygenated blood recirculates in systemic
nary vascular resistance is less there occurs high pulmo-
circulation. The two circulations are parallel and
nary blood flow resulting in relatively high arterial oxygen
independent (Fig. 33.2). Inter circulatory shunts or
saturations. Bronchopulmonary collateral circulation is
communications at atrial, ventricular or at great
present in about one third of infants before two years of
arterial level produce mixing of oxygenated and
age.
deoxygenated blood and are necessary for survival.
Systemic and pulmonary arterial oxygen saturations are CLINICAL FEATURES
dependent on one or more of the following anatomic paths
History
for this exchange: intracardiac (patent foramen ovale/ASD/
There is a male preponderance in complete TGA, unless
VSD) and extracardiac (PDA or bronchopulmonary
there is juxtaposition of atrial appendages. A twofold
collateral circulation).
increase in the incidence of complete TGA is seen in the
The amount of oxygenated blood passing from the
offspring of mothers who have multiple pregnancies. These
pulmonary circulation to the systemic circulation through
neonates have normal to large birth weights.
inter circulatory shunts is used for tissue perfusion which
Cyanosis is evident as early as the first day of life in
is the effective systemic blood flow. On the other hand the
over 90 percent of infants with intact ventricular septum.
amount of deoxygenated blood passing from the systemic
Delayed onset of mild cyanosis with congestive heart failure
circulation to the pulmonary circulation is the effective
occurs in complete TGA with nonrestrictive VSD or large
pulmonary blood flow that is used for gas exchange in the
PDA. Reverse differential cyanosis occurs in TGA with
lungs.
large PDA and pulmonary vascular disease. These infants
Note: The effective pulmonary blood flow and effective may have necrotizing enterocolitis due to reduced mesenteric
systemic blood flow are equal to each other, on the volume of
circulation. Spontaneous closure of the ductus is followed
which survival depends.
by a sudden fall in systemic arterial oxygen saturation and
The extent of inter-circulatory mixing in TGA depends rapid clinical deterioration. With large VSD and PDA when
on the number, size and position of the anatomic the pulmonary vascular resistance increases, congestive
communications and on the total blood flow through the heart failure improves at the cost of increasing cyanosis.
pulmonary circuit. In the neonate with an intact ventricular Severe pulmonary stenosis or atresia results in intense
septum and a closed or closing ductus arteriosus, severe neonatal cyanosis. Dynamic subpulmonary stenosis is
 Complete Transposition of the Great Arteries
sometimes responsible for hypercyanotic spells in later
periods of infancy. More commonly, hypoxic spells and
metabolic acidosis result from inadequate intracardiac
mixing. Neurological complications like cerebral infarct and
brain abscess can occur in children with TGA.
Modes of Clinical Presentation
1. Predominantly cyanosis (poor inter-circulatory mixing):
Most infants present with cyanosis right from birth.
There are no features of congestive heart failure. These
infants develop metabolic acidosis due to hypoxia and
are critically ill. These features suggest no mixing of
blood in ventricular chambers, i.e. ventricular septum
is intact and there is no significant ASD.
2. Congestive heart failure (good inter-circulatory mixing):
Some infants present with tachypnea, tachycardia, and
restlessness with hepatomegaly even on the first day of
birth. Clinically cyanosis is not evident. These features
indicate presence of congestive heart failure suggesting
increased flow to pulmonary circulation and good mixing
of oxygenated and deoxygenated blood in intracardiac
chambers, i.e. the VSD is large.
3. Relatively asymptomatic (balanced mixing): A few
infants remain asymptomatic for about a week or more.
There is no cyanosis and no evidence of congestive
heart failure in the early neonatal age group. Cardio-
vascular examination does not reveal any murmur. These
features point to balanced mixing of blood through a
VSD or through an adequate sized ASD.
Note: These modes of presentations are however not
watertight; a patient of group I may develop congestive heart
failure or may go to (group II). In-group II, pulmonary vascular
disease occurs early leading to decreased pulmonary flow,
so these patients develop increasing cyanosis.
PHYSICAL EXAMINATION
The first heart sound is normal in intensity and normally
split. The aortic component of the second heart sound is
palpable at the left base because of the anterior position of
the transposed aorta. Pulmonary arterial impulse is absent
even if dilated, as the pulmonary trunk is posterior. The
second sound therefore is loud and single. A left ventricular
third heart sound is audible when pulmonary arterial blood
flow is high or when left ventricular failure is present. As
307
pulmonary artery is dilated, an ejection click is transmitted
to the chest wall and it is audible.
Systolic murmurs are usually absent. LVOT obstruction
(sub-pulmonary stenosis) results in an ejection systolic
murmur. VSD murmur is absent at birth only appears after
the pulmonary vascular resistance falls. But a subsequent
increase in pulmonary vascular resistance shortens the
murmur, which ultimately disappears when pulmonary
vascular resistance is high. Murmur due to fixed LVOT
obstruction may be present at birth and are best appreciated
at the mid-left sternal border due to subpulmonary
obstruction and radiate upward and to the right because of
the rightward course of the transposed pulmonary artery.
The murmur of large PDA is usually systolic, as flow from
the aorta to the pulmonary artery occurs only during systole.
INVESTIGATIONS
Electrocardiography
ECG shows sinus rhythm, right axis deviation and right
ventricular hypertrophy (Fig. 33.3). Right axis deviation
and right ventricular hypertrophy are more marked when
the ventricular septum is intact or the VSD is restrictive. In
cases of large VSD and low pulmonary vascular resistance
the right axis deviation may be absent or axis is just
rightward. Biventricular hypertrophy is also a good evidence
of a nonrestrictive VSD with volume overload of the left
ventricle and is present in 75 percent of patients with large
VSD. Left axis deviation occurs rarely in TGA/IVS but is
typically seen in TGA with AV canal types of VSD.
Radiography
Roentgenographic findings in neonates may be normal. As
the pulmonary vascular resistance falls the characteristic
features appear. Radiological presence of oval or ‘egg
on side’ shaped cardiac contour, mild cardiomegaly with
narrow pedicle and increased pulmonary vascular
markings (Fig. 33.4) in a cyanotic infant strongly
suggest the diagnosis of TGA. However one third of the
neonates have no cardiac enlargement and pulmonary
vascular markings are normal. The vascular pedicle is
narrow because of the anteroposterior relationships of the
great arteries and the hypoplasia of thymic tissue. The
pulmonary vascular markings are more prominent when a
large VSD is present with low pulmonary vascular resistance
 308 Clinical Diagnosis of Congenital Heart Disease
Fig. 33.3: ECG of TGA showing sinus rhythm, right axis
deviation, right atrial enlargement and right ventricular
hypertrophy
where the cardiac silhouette is larger than seen in TGA
with intact ventricular septum. Sometimes pulmonary
vascularity is more marked on right side because of right
ward direction of main pulmonary artery. The vascularity
decreases as pulmonary vascular disease develops curtailing
flow. The overall incidence of right aortic arch in TGA is 8
percent but when TGA with VSD and PS is considered,
the incidence goes upto 15 percent.
Echocardiography
In current era, echocardiography has become the method
of choice for diagnosis of TGA. Echocardiographic
diagnosis of TGA is based upon demonstrating
atrioventricular and ventriculoarterial relationship. Origin
of pulmonary artery from LV and aorta from RV can be
demonstrated (Fig. 33.5A). Normally basal parasternal view
in short axis shows the aorta in cross section as a circle,
the RVOT and pulmonary artery in long axis as sausage
shaped because of their spiral relationship. In complete
TGA, the great arteries typically appear in the parasternal
short axis as double circles, with the aorta anterior and to
the right of the main pulmonary artery (Fig. 33.5B). The
anteriorly placed ascending aorta and posteriorly placed
pulmonary artery, when visualized simultaneously, are seen
Fig. 33.4: Chest X-ray of TGA showing ‘egg on side’ shaped
cardiac silhouette with narrow pedicle
parallel to each other. Pulmonary artery and aorta are
distinguished by their typical branching patterns. Pulmonary
artery bifurcates after a short course where as aorta arches
giving rise to brachiocephalic branches. 2D echo with color
flow imaging and spectral Doppler interrogation can identify
VSD, LVOT obstruction, proximal coronary arterial
anomalies and other defects if associated.
Echocardiography can be used to guide catheter
placement and movements during balloon atrial septostomy
and to assess the anatomic adequacy of the septostomy.
An obstetric screening examination frequently does not
readily identify TGA. However, the diagnosis of TGA can
readily be made by specialized Fetal echocardiography.
Perhaps the advantage of prenatal diagnosis is the ability to
deliver the infant in an obstetric until with the expectation
of cardiac lesion, more-so for, institution of PGE1 therapy
and then prompt transfer to a specialized cardiac unit before
clinical deterioration.
Cardiac Catheterization and Angiography
Currently, cardiac catheterization and cineangiography are
not done routinely, particularly in neonates who are often
taken for surgery directly after echo diagnosis in many
centers. Neonates with poor inter-circulatory mixing are
 Complete Transposition of the Great Arteries
A is that the oxygen saturation in the pulmonary artery is always
B
Figs 33.5A and B: Echocardiogram of TGA showing
(A) parasternal long axis view showing origin of pulmonary
artery (PA) from left ventricle (LV), PA is identified by its typical
bifurcation. Aorta (Ao) originates from an enlarged right
ventricle (RV); (B) short axis showing aorta (Ao) anterior to
pulmonary artery (PA)
catheterized for balloon atrial septostomy. Cardiac
catheterization is also done in complex forms of TGA to
know pulmonary artery pressure, pulmonary blood flow
(and vascular resistance), coronary artery anatomy,
morphologic details of pulmonary or subpulmonary
obstruction, VSD number, site, size and type and severity
of aortic arch abnormalities which are important in planning
appropriate palliative or corrective surgery.
Entry into pulmonary artery may be difficult. When
attempting to enter pulmonary artery, a balloon-tipped
309
catheter should be used. If the pulmonary artery is not
entered, pulmonary-vein wedge pressures should be obtained
and if they are normal, it is unlikely that the pulmonary
artery pressure is elevated.
In the newborn with TGA and intact ventricular septum,
the systemic arterial saturation is nearly similar to that in
the right ventricle. Combined respiratory and metabolic
acidosis, along with severe hypoxemia is usually present
when there is poor mixing. In the infant with large inter
circulatory communication, oxygen saturation remains about
70 to 85 percent.
Note: The distinguishing feature of “transposition physiology”
higher than in the aorta; however, with extensive intracardiac
mixing, the saturations may be quite similar.
Angiography demonstrate ventriculoarterial discordance
(RV to Ao; LV to PA). The number, site, and size of VSD(s)
can be well visualized. Various forms of left ventricular
outflow tract obstruction can be best discriminated
angiographically by long axial left ventricular views. Small
peak systolic pressure differences (< 20 mm Hg) between
left ventricle and main pulmonary artery have been attributed
to a “functional” stenosis of the pulmonary valve and outflow
tract, similar to that observed in patients with secundum
ASD with high pulmonary blood flow.
Selective coronary angiography or antegrade aortic root
angiography with distal balloon occlusion of the ascending
aorta is required to demonstrate coronary arterial anomaly.
Using aortic root angiography with balloon occlusion
technique, a balloon angiocardiographic catheter is posi-
tioned in the ascending aorta proximal to the brachiocephalic
arteries so that the side holes are approximately 1 cm above
the aortic valve. Combined balloon occlusion aortography
producing the so-called “laid-back” in aortogram, is one of
the most anatomically precise angiocardiographic technique
for the preoperative assessment of the coronary arteries in
TGA because it provides visualization of both the proximal
ostia and distal distribution of the coronary arteries in the
same plane.
DIAGNOSIS
Complete TGA is the most common cyanotic congenital
heart disease seen in neonates. Male babies with normal or
increased birth weight of a multiparous mother are
 310 Clinical Diagnosis of Congenital Heart Disease
commonly affected. Usually, they present with cyanosis
or congestive heart failure. On examination, second sound
is very loud and single. No significant murmur is audible
over precordium. Some cases have short ejection systolic
murmur due to LVOT obstruction (subpulmonary stenosis).
ECG shows right axis with RVH. X-ray chest is charac-
teristic showing an oval or ‘egg on side’ shaped cardiac
silhouette with narrow pedicle (superior mediastinum), mild
cardiomegaly and increased pulmonary vascular markings.
Echocardiography has become the diagnostic method of
choice. However, catheterization and angiocardiography are
done for better delineation of anomalies in selected cases
before surgery.
DIFFERENTIAL DIAGNOSIS
Transposition physiology is suspected when neonate
presents with cyanosis and congestive heart failure. The
following five conditions starting with their first letter
from ‘T’ come under differential diagnosis.
1. Transposition of the great arteries
2. Taussig-Bing anomaly
3. Truncus arteriosus
4. Total anomalous pulmonary venous connection
5. Tricuspid atresia with nonrestrictive ventricular septal
defect.
Clinical picture are more or less same in these conditions.
ECG and roentgenography play important role to distinguish
them but ultimately echocardiogram gives the diagnosis.
Complete TGA is the commonest cyanotic congenital heart
disease in this group
NATURAL HISTORY
Survival is poor in untreated patients with TGA and parti-
cularly with intact ventricular septum; 80 percent are alive
at 1st week but only 17 percent at 2 months and 4 percent
at 1 year.
Survival is better when there is a true ASD or an adequate
interatrial communication is achieved by balloon atrial
septostomy, after which 75 percent patients survive for 6
months, 65 percent for one year and they may survive well
into their teens.
In patients with TGA and VSD, early survival is higher,
90 percent at 1 month, 40 percent at 5 months and 30
percent at 1 year. Early survival is less in this group when
there is a large pulmonary blood flow. Obstructive pulmo-
nary vascular disease improves early survival to 40 percent
at 1 year, but there is a rapid decline thereafter, and none
are alive by 5 years. Large VSD close or narrow in a smaller
proportion (about 20%) of patients with TGA when
compared to children with isolated VSD.
Leibman et al found that PDA increased the risk of early
death in all subsets of patients. This is particularly the case
when the ductus is large. When PDA is small (< 3 mm in
diameter) as in about 2/3 rd of the cases, it does not have
much influence on the natural history. In patients with TGA,
VSD and LVOTO, early survival is still better, reaching 70
percent at 1 year and 30 percent at 5 years, because in
many, the LVOTO is moderate initially.
A majority of patients with complete TGA who reach
their teens have large VSD with pulmonary vascular disease
(PVD) or, less commonly pulmonary stenosis. Accelerated
PVD is prevalent in complete TGA, especially in the presence
of nonrestrictive VSD or large PDA. Grade 3-4 Heath-
Edwards histological changes are found in 20 percent of
infants before two months of age and in approximately 80
percent after 1 year. Even in patients with an isolated
interatrial communication, the overall incidence of advanced
PVD is 6 percent, although progression is slower.
Modes of Death
The poor survival in patients with TGA and IVS is related
to anoxia. Intercurrent pulmonary infections in these chil-
dren lead to increasing hypoxia, acidemia and death.
Polycythemia and increased blood viscosity due to severe
hypoxia predisposes these children to develop
cerebrovascular accidents, particularly in association with
dehydration. Hypochromic microcytic anemia has been
implicated in the causation of these events. Like other
cyanotic congenital heart diseases, brain abscess can also
be seen in patients with complete TGA, but is very rare in
children under two years of age.
Patients with TGA and large VSD usually die of conges-
tive heart failure. Hypoxia is the primary cause of morbidity
and mortality in patients with TGA, VSD with LVOTO.
Currently, in institutions where arterial switch operations
are conducted in neonates, the early or in-hospital mortality
in both simple TGA and TGA with VSD is about 2 to
5 percent. The mode of death is usually acute or subacute
cardiac failure, secondary to ventricular dysfunction
resulting from imperfect transfer of the coronary arteries
 Complete Transposition of the Great Arteries
to the neoaorta. The other important cause of death is right
ventricular dysfunction secondary to severe PVD. The long-
term survival (20 years after surgery) is expected to be
>50 percent of cases.
GUIDELINES FOR MANAGEMENT
Medical Management
TGA with hypoxemia is a medical emergency. Balloon atrial
septostomy and prostaglandin E1 infusion are life saving
for these neonates. Prostaglandin E1 infusion is to be
continued during catheterization and till surgery.
Nonspecific medical management include decongestive
therapy (digoxin and diuretics) when congestive heart failure
is present and judicious amount of fluid and electrolytes to
correct metabolic acidosis. Hypoglyemia and hypocalcemia
also require correction.
Surgical Management
Palliative surgery is not necessary if balloon atrial septostomy
is successful, i.e. 10 percent increase in saturation is
desirable. Surgical management depends on the anatomical
abnormality of TGA. The following Table gives the surgical
options available, in nutshell.
Anatomy Surgery
TGA/IVS Arterial switch operation before 4 weeks.
Atrial switch after 4 weeks.
TGA with PDA Arterial switch operation and PDA ligation.
TGA, VSD Arterial switch operation with VSD closure.
TGA, VSD, PS VSD closure and RV to PA conduit (Rastelli
procedure)
311
Without treatment, 90 percent patients die before their
first birthday. However, today the aggressive medical and
surgical interventions in the neonate can provide more than
90 percent early and midterm survival. Arterial switch
operation is rewarding because of its less long-term
postoperative complications compared to atrial switch
operation.
SALIENT FEATURES
1. In TGA aorta arises from RV and pulmonary artery from
LV (ventriculoarterial discordance). Thereby systemic
and pulmonary circulation function in parallel, not in
series as occurs normally.
2. Survival depends upon inter-circulatory mixing through
either PFO/ASD, PDA or in 50 percent of cases with
VSD. LV outflow obstruction (sub-pulmonary stenosis)
may be present.
3. Male neonate having normal or high birth weight, high
birth order, cyanosis, CHF, no significant murmur and
ECG showing RV dominance (RAE and RVH) the
physician can clinically diagnose TGA. TGA is the most
common cause of cyanosis in neonate.
4. The diagnostic triad for TGA from X-ray chest is
I. Oval or ‘egg on side’ shaped cardiac silhouette with
narrow pedicle
II. Mild cardiomegaly
III. Increased pulmonary vascularity
5. Echocardiography gives the diagnosis by demons-
trating ventriculoarterial discordance and associated
lesions ASD, VSD, PDA, LVOT obstruction and coronary
artery anomalies if present. Fetal echo can give the
diagnosis in prenatal period.
6. Balloon atrial septostomy is a palliative procedure
performed in those with intact ventricular septum and
PFO.
7. Surgery particularly early arterial switch has changed
the prognosis.
 34 Hypoplastic Left Heart Syndrome
DEFINITION
The term hypoplastic left heart syndrome (HLHS) includes
a group of cardiac malformations in which there occurs
hypoplasia, stenosis or atresia of aortic valve with either
hypoplasia or absence of the left ventricle and hypoplasia
of ascending aorta. Severe mitral stenosis, mitral hypoplasia
or atresia is often associated. As the name implies it consists
of lack of normal development of whole left side of the
heart in contrast to the right side, which is well developed.
HISTORY
Lev introduced the term hypoplasia of the aortic tract
complex in 1952. But Noonan and Nadas in 1958 first used
the term hypoplastic left heart syndrome.
INCIDENCE
It is a rare entity, reported to occur in 0.016 to 0.036
percent of live births. It is the most common cause of
death in the first week amongst all heart diseases. Twenty-
three percent of deaths due to congenital heart disease in
newborn period are due to HLHS. First-degree relatives of
patients with hypoplastic left heart syndrome have 12 percent
prevalence of abnormalities of left ventricular outflow tract.
Genetic syndromes with high incidence of hypoplastic left
heart syndrome include Turner syndrome, Noonan
syndrome, Holt-Oram syndrome, Smith-Lemli-Optiz
syndrome and CATCH -22 Syndrome. Around 28 percent
of patients with hypoplastic left heart syndrome have a
definite genetic disorder or major extra cardiac anomaly.
Autosomal recessive transmission and multifactorial
inheritance as etiological factors have been suggested. Male
predominance is seen with a sex ratio of 2: 1.
N Sudhayakumar, G Rajesh
NONCARDIAC ANOMALIES
Multiple noncardiac anomalies like microcephaly, agenesis
of corpus callosum and elevated levels of total amino acids
have been reported. Cerebral necrosis and intracerebral
hemorrhage are seen in some patient dying of HLHS.
EMBRYOLOGY
HLHS most likely results from a reduction of either the
inflow or outflow of the left ventricle. It is assumed that
the developmental arrest occurs soon after septation of the
heart is completed. The probable causes responsible for
giving rise to HLHS are:
1. Congenitally small, absent or premature closure of
foramen ovale.
2. A displaced septum primum may obstruct the normal
shunting of inferior vena caval blood through foramen
ovale to left ventricle limiting the left ventricular inflow.
3. Malalignment of the common atrioventricular valve
(failure of development of atrioventricular endocardial
cushion) may also limit left ventricular inflow.
4. Failure of left ventricular differentiation at its inflow
and or outflow tract portion. Though congenital mitral
stenosis also limits left ventricular inflow it is probably
not a primary cause of HLHS because mitral stenosis
often results in enlarged left atrium (LA), whereas
patients with HLHS have hypoplastic LA.
ABNORMAL ANATOMY
Eighty five percent of patients of HLHS have combination
of atresia or stenosis of aortic and mitral valves. Remaining
15 percent have a common atrioventricular septal defect
with common atrioventricular valve malaligned to right
resulting in left ventricular hypoplasia.
 Hypoplastic Left Heart Syndrome
Most of the patients have situs solitus, levocardia
atrioventricular and ventriculo arterial concordance. Right
atrium (RA) is dilated; LA is small with endocardial
thickening. Interatrial septum is small in diameter, thickened
and fibrous (not muscular), variable size of openings are
seen in interatrial septum. Tricuspid valve is normal (TR
may be present due to annular dilatation), pulmonary veins
connect normally to LA. Anomalous connections of pulmo-
nary veins are also reported. RV is dilated, hypertrophied
and pulmonary artery is dilated. Hypertrophy of RV
infundibulum and ventricular septum are also present.
Pulmonary valve is tricuspid and morphologically normal
(rarely dysplastic). Mitral valve is either atretic or stenotic;
when mitral valve exists, its components are abnormal with
hypoplasia of annulus. Hypoplasia of LV involves both inflow
and outflow tracts. LV myocardium is grossly hypertrophied
with a very small LV cavity (Fig. 34.1A). Papillary muscles
are underdeveloped. Infarction or ischemia of LV sub-endo-
cardium may be present. Aortic valve is either atretic or
severely stenotic. A variable degree of hypoplasia of
ascending aorta is present. Aortic arch is usually left sided.
Histological features of persistence of spongy-myocardium
(embryonic pattern) and myocardial fiber disarray (like
HCM) are present.
Underdeveloped left atrioventricular valve is associated
with various morphological abnormalities of atrial septum
like patent foramen ovale, ASD secundum, ASD primum
and aneurysm of septum primum. It is important for the
surgeon to be aware of these atrial septal anomalies while
doing atrial septectomy. Atrial septum may be intact in 10
percent. When mitral valve atresia is present and atrial
septum is intact alternate pathways for pulmonary venous
drainage include: (i) anomalous pulmonary venous
connection to systemic veins, (ii) persistent left superior
vena cava (LSVC) opening to LA (Fig. 34.1B), (iii) unroofed
coronary sinus where LA communicates with coronary
sinus directly.
Aortic atresia is represented by either an absent or an
imperforate aortic valve. When aortic outflow tract is patent,
the aortic root is small and aortic valve leaflets are thickened
and dysplastic. Coarctation of aorta is associated with this
type of anomaly.
Aortic atresia with normal LV cavity is seen in very
few cases (2-7%) of patients having VSD. Besides aortic
atresia with AV septal defect, d-transposition of great
313
Figs 34.1A and B: (A) Schematic diagram showing hypoplastic
left heart, straight bold and thin arrows indicate atretic aortic
and mitral valves respectively. Left ventricle (LV) is hypoplastic,
D indicates ductus arteriosus. Curved arrows indicate direction
of blood circulation. (B) Showing hypoplastic left ventricle (LV)
with intact atrial septum, arrow pointing to a atretic mitral valve,
blood circulation is from pulmonary veins (PV) to left atrium
(LA) then through left superior vena cava (LSVC) to left
innominate vein (LinV) and then to right superior vena cava
(SVC) and right atrium (RA) (RV—right ventricle, Ao—aorta,
and PA—pulmonary artery)
vessels, univentricular heart and corrected transposition are
also associated with well developed LV.
CORONARIES IN HLHS
The hypoplastic ascending aorta act as “common coronary
artery” receiving retrograde flow from the ductus to both
coronary arteries which usually originate from the hypo-
plastic ascending aorta. Walls of coronary arteries may be
thicker. Another pattern of coronary flow is through
ventriculo coronary communication similar to those seen
in right ventricle of pulmonary atresia with intact ventricular
septum. Ventriculo coronary flow occurs through myo-
cardial sinusoids connecting the LV cavity with coronary
arteries which represent persistent embryonic channels in
the myocardium. It is excessive ventricular systolic pressure,
which acts as the driving force for this ventriculo-coronary
communications. Rarely abnormal origin of one coronary
artery from pulmonary artery may also act as the driving
force for ventriculo-coronary flow. Anomalies of systemic
venous connection are seen in < 5 percent of patients.
 314 Clinical Diagnosis of Congenital Heart Disease
Persistent left SVC is seen in 2 to 4 percent and anomalous
pulmonary venous connection in 5 percent.
HEMODYNAMICS OF HLHS
During fetal life, the pulmonary vascular resistance is higher
than systemic vascular resistance, and the dominant RV
maintains normal perfusion in descending aorta through
ductus arteriosus. The fetus tolerates the anomaly well in
utero. After birth as the systemic vascular resistance
increases and closure of ductus arteriosus occurs, marked
reduction in systemic cardiac output occur producing
circulatory shock (low cardiac output) and metabolic
acidosis. Maintenance of adequate systemic blood flow
depends on patency of an adequate size of ductus arteriosus
and an adequate interatrial communication.
Note: Survival of infants in postnatal period depends on three
major factors like ductal patency, pulmonary vascular
resistance and interatrial communication.
Left ventricle is nonfunctional in HLHS. Pulmonary
venous blood returning to LA enters right atrium through
atrial septal defect, patent foramen ovale or rarely through
anomalous pulmonary venous connection. At times persis-
tent left SVC or an unroofed coronary sinus act as the exit
to pulmonary venous blood. Admixture of systemic and
pulmonary venous blood occurs in right atrium. The right
ventricle maintains both pulmonary and systemic circulation.
RV output goes to aorta through ductus arteriosus, patency
of which is essential after birth for systemic circulation.
Cerebral and coronary supply is retrograde, via ductus it
comes to the transverse arch and then to ascending aorta.
Blood flow to pulmonary circuit and systemic circuit depend
on their relative resistance.
CLINICAL FEATURES
Neonates born with this anomaly appear normal at birth
and there is no murmur audible in about half of the cases,
therefore there is little scope to recognize such a deadly
anomaly immediately. The neonate becomes critically ill
when ductus starts closing. The infant develops mild cya-
nosis with respiratory distress, tachypnea and tachycardia
(due to pulmonary venous congestion). Deep cyanosis is
present when the infant is critically ill due to severely
reduced cardiac output after ductal closure. Peripheral
pulses depend on degree of ductal constriction. Weak
peripheral pulses and cold extremities (vasoconstriction due
to systemic hypoperfusion) are very characteristic findings.
Cardiac impulse is felt over left lower parasternal area
indicating a dominant RV (no LV impulse). First heart sound
is normal, S2 is loud and single (only P2) and a pulmonary
ejection click may be present. In about half of the cases no
murmur is audible. Rest of the cases ejection systolic
murmur at upper left sternal border is heard (due to dilated
pulmonary trunk) and in some cases a long systolic murmur
is also present over lower sternal border (due to TR).
Enlarged liver and basal rales indicate congestive heart failure.
Rarely the infant may show intermittent clinical improvement
in the first week of life due to variation in degree ductal
closure, before finally they detoriate and die.
INVESTIGATIONS
Electrocardiography
ECG shows sinus rhythm with right axis deviation. Mean
QRS axis is usually + 90° to + 210°, Right ventricular
hypertrophy is almost always present and peaked P
indicating right atrial enlargement. In 40 percent of cases,
qR pattern in V1 is seen. Left precordial leads have no q,
and small r waves indicating no LV force. WPW
syndrome is occasionally observed. In many cases ST-T
changes particularly T-inversion in precordial leads is seen,
most probably due to diminished coronary perfusion.
Radiography
Cardiomegaly moderate to marked (globular heart) is seen
in 75 to 85 percent of patient because of RA and RV
enlargement (Fig. 34.2). Ascending aortic shadow is absent.
Large RA with absent ascending aortic shadow may
give a reverse of ‘5’ appearance in frontal view.
Pulmonary vascular markings are generally increased. In
patients with restrictive ASD a reticular pattern is seen
mimicking TAPVC with pulmonary venous obstruction.
Echocardiography
This anomaly can be diagnosed in intrauterine life by fetal
echocardiography. After birth echocardiography is also
diagnostic of HLHS. The atretic or stenotic mitral and aortic
valves, the thick walled small left ventricle, small left atrium,
the hypoplastic ascending aorta, flow of blood from left
 Hypoplastic Left Heart Syndrome
Fig. 34.2: X-ray chest of hypoplastic left heart syndrome, there
is cardiomegaly, absence of aortic shadow, right ventricular
enlargement and huge right atrial enlargement (Courtesy:
Dr PK Pati, CMC, Vellore)
atrium to right atrium, retrograde flow in the ascending
aorta and the large ductus which carry blood from
pulmonary artery to aorta can be identified (Fig. 34.3). All
these structures are visualized in different views particularly
the suprasternal view helps in identifying the aortic arch
and upper descending aorta. Aortic dimension increases
beyond ductus. Doppler examination of mitral valve is useful
to determine if it is atretic. Care to be taken not to confuse
the ductus for pulmonary artery. Spectral Doppler and
color flow mapping is helpful to assess TR, and to diagnose
a restrictive ASD (small ASD with pressure gradient
between two atria and bulging of IAS to right), which may
indicate an emergency septostomy. Assessment of RV
function by echo is an useful prerequisite before surgery.
Cardiac Catheterization and Angiography
Invasive study is rarely done for diagnosis of HLHS as
echo is diagnostic. In the presence of aortic and mitral
atresia obligatory left to right shunt at atrial level and right
to left shunt through PDA are present. Systemic venous
O2 saturation is low. Rise in O2 saturation is seen in RA,
RV, PA. Ascending and descending aortic saturation are
same as pulmonary artery saturation.
315
Fig. 34.3: Echocardiography of hypoplastic left heart syndrome,
4 chamber view shows a small hypoplastic LV, RA and RV are
dilated (Courtesy: Dr J Yusuf, GB Pant Hospital, New Delhi)
Catheterization findings of a left to right shunt at atrial
level, systemic arterial desaturation and increased systolic
pressure in RV and PA even upto systemic level give the
first clue to the diagnosis of HLHS. RV systolic pressure is
high (70 to 100 mm to Hg) and endiastolic pressure is also
increased (15 to 20 mm of Hg). Pulmonary artery systolic
pressure is equal to RV pressure. A pressure gradient may
be recorded between LV and aorta. The mean atrial pressure
of both LA and RA are increased upto 15 mm of Hg or
more with prominent a-waves in both atrial tracings. LV
pressure is very low or cannot be recorded. There is a
gradient between MPA and descending aorta across the
ductus. Significant variations in pulmonary and aortic
pressures are observed with respiration during
catheterization.
Selective injection of contrast into RA and MPA helps
in diagnosis of aortic atresia by late opacification of a small
ascending aorta to the right side of pulmonary artery. If
aortography is indicated, balloon occlusion is ideal for
imaging ascending aorta and the coronaries.
DIAGNOSIS
The baby is born at term with normal birth weight and on
examination peripheral pulses are normally felt, no cyanosis
and no cardiac murmur is detected, so the physician
naturally thinks the baby is normal one but the next day
(may be after some hours) the neonate develops cyanosis,
severe dyspnea. On examination peripheral pulses are week,
there is RV impulse. On auscultation there is single and
 316 Clinical Diagnosis of Congenital Heart Disease
loud second heart sound, ejection click at apex, and ejection
systolic murmur over upper left sternal border are audible
with ECG findings of right axis deviation, right atrial
enlargement and right ventricular hypertrophy. Echocardio-
graphy confirms the diagnosis.
DIFFERENTIAL DIAGNOSIS
The following clinical conditions come as differential
diagnosis to HLHS when symptoms and signs of pallor,
cyanosis of varying degrees, respiratory distress and weak
pulses are present in neonatal period. They are: (i) complete
interruption of aortic arch, (ii) severe coarctation of aorta,
(iii) critical aortic stenosis, and (iv) severe obstructive
TAPVC. Besides patients of pulmonary atresia with intact
ventricular septum, TGA with no inter-circulatory communi-
cation and tricuspid atresia with pulmonary atresia become
critically ill in neonatal period as ductus starts closing; which
are clinically confused with HLHS. Careful clinical
examination, ECG, chest X-ray and above all echocardio-
graphy help to differentiate each of these anomalies.
Few noncardiac conditions may have similar symptoms
amongst which acute idiopathic respiratory distress
syndrome (ARDS) is an important one. The symptoms and
signs occur early in infancy similar to HLHS. The main
features of ARDS like respiratory grunting, more sternal
retraction, reduced PO2 which rise with oxygen inhalation
help to differentiate from HLHS.
NATURAL HISTORY
Hypoplastic left heart syndrome is a rare developmental
malformation but it is referred to as the most malignant
form of congenital heart disease, if untreated over 95 percent
of infants die within the first month of life. It accounts for
25 percent of cardiac deaths during the first week and
survival beyond neonatal life is the exception in untreated
cases. However prognosis is relatively better now due to
tremendous advancement in medical and surgical technique.
GUIDELINES FOR MANAGEMENT
Medical Management
Once hypoplastic left heart syndrome is diagnosed, the
infant is ideally kept in an intensive care unit. The duct is
kept patent by prostaglandin infusion (PGE1). Care is taken
to manage congestive heart failure, metabolic acidosis,
electrolyte imbalance and hypotension by conventional
drugs.
Catheter Intervention
When hypoxia persists and no adequate interatrial
communication is detected (mainly by echocardiography)
balloon atrial septostomy is done on emergency basis and
recently stents are used to keep the duct patent.
Surgical Management
Advances in surgical skill have made the success rate
noteworthy. Surgery is done by staged reconstructive
approach like stage I—Norwoods procedure, stage II—
hemi Fontan, and stage III—complete Fontan procedure.
Besides heart transplantation is also considered. Heart
transplantation for HLHS was started in 1985 and the first
successful transplant was done in 1989 at Boston.
SALIENT FEATURES
1. In hypoplastic left heart syndrome mitral and/or aortic
valves are atretic or critically stenotic with hypoplasia
of LA, LV and ascending aorta.
2. It is a duct dependant lesion (systemic flow depends
upon patency of ductus).
3. Coronary arteries are filled by retrograde flow from
ductus through the hypoplastic ascending aorta.
Ventriculo-coronary flow occurs through myocardial
sinusoids.
4. The peculiarities of HLHS are the neonates are born
healthy, no cyanosis, no murmur, so little scope for the
clinician to diagnose such a deadly disease. But after
some hours to a day or two the infant becomes critically
ill and may die due to closure of ductus.
5. Cyanosis, irritability, low volume pulse with hypo-
tension, RV impulse, single heart sound and no murmur
or short ESM are main clinical features.
6. The ECG shows right axis, RA enlargement and RVH
with no q and small r in V5, V6, indicating no LV force.
7. Cardiomegaly (RA and RV enlargement) is common.
Absent ascending aortic shadow is an important finding.
8. Echocardiography findings of atretic or stenotic mitral
and aortic valves, the thick walled small left ventricle,
small left atrium and hypoplastic ascending aorta
confirms the diagnosis. This anomaly can be diagnosed
in prenatal period by fetal echocardiography.
9. Cardiac catheterization and angiography are
mandatory before any surgical procedures.
 35 Total Anomalous Pulmonary
Venous Connections
SYNONYM
Complete transposition of pulmonary veins.
DEFINITION
When all the four pulmonary veins are not connected to
left atrium the clinical condition is known as ‘Total
anomalous pulmonary venous connection’ (TAPVC). In
this condition all the four veins from both lungs join together
to form a venous sinus or confluence and then run in a
single channel to join either right atrium or a systemic vein
or both.
HISTORY
A case report of TAPVC was first described in 1798 by
Wilson. The first description of TAPVC was by
Friedlowsky in 1868. First successful open repair was by
Muller in 1951.
INCIDENCE
TAPVC occurs in approximately 4-6/100,000 live births.
This anomaly accounts for 1-3 percent of the cases of
congenital heart disease. Multifactorial inheritance pattern
may play some role. It is sometimes associated with asplenia
syndrome. Male to female sex ratio is equal. A strong male
predominance (4 : 1) is seen in cases of infradiaphragmatic
type. A retrospective study from AIIMS (India) shows sex
ratio of male to female is about 2 : 1.
EMBRYOLOGY
The lung buds arise as an outgrowth of the primitive foregut,
which is covered by a vascular plexus called the splanchnic
plexus. The part of this plexus surrounding the lung bud
develops to pulmonary vascular bed, which drains to cardinal
and umbilico-vitelline veins. Simultaneously a primitive
CD Gupta, M Satpathy
venous channel develops from the left atrium (common
pulmonary vein) that connects with pulmonary venous
plexus. Subsequently the communication of pulmonary
venous channel with cardinal and umbilico-vitelline system
atrophies. Four individual pulmonary veins then develop
from the pulmonary vascular bed to join the common pulmo-
nary vein, which then incorporates to the left atrium. When
this common pulmonary vein fails to develop, the pulmonary
venous plexus of the lung bud is unable to join left atrium
instead pulmonary to systemic connection persist resulting
in total anomalous pulmonary venous drainage. Persistent
venous channels from pulmonary venous plexus drain to
cardinal veins. These cardinal veins become superior and
inferior vena cavae, which drains to right atrium directly
or indirectly. Indirect drainage is through persistent left
SVC into innominate veins and then to right SVC or directly
into RA or into IVC below the diaphragm.
CLASSIFICATION OF TAPVC
TAPVC has been classified in various ways in the past by
various authors, they are:
1. Smith’s classification who classified it into two types:
a. Supradiaphragmatic type
b. Infradiaphragmatic type.
2. Neill’s classification (1956) is based on embryologic
basis.
3. Burroughs and Edward classified into three types:
(a) long, (b) intermediate, and (c) short.
4. Darling’s classification (1957) is the most popular
and accepted classification. He divided TAPVC into four
types, (Fig. 35.1), they are:
Type I: Supracardiac connection. This accounts for 55
percent of TAPVC patients. The common venous sinus
joins superior venacava.
 318 Clinical Diagnosis of Congenital Heart Disease
Fig. 35.1: Schematic diagram showing
incidence of different types of TAPVC
Type II: Cardiac connection. This accounts for 30 percent
of TAPVC patients. The common pulmonary venous sinus
drains into coronary sinus, or the pulmonary veins enter
into RA separately through four openings.
Type III: Infracardiac connection, which is responsible for
13 percent of TAPVC patients.
Type IV: or mixed, seen in 2 percent of TAPVC patients.
This type is a combination of all these types. The right and
left pulmonary veins drain to different sites (e.g., left
pulmonary veins to the left innominate and right pulmonary
veins directly into the right atrium or coronary sinus. Type
IV is commonly associated with other cardiac anomalies.
Associated Anomalies
TAPVC occurs as an isolated lesion in two third of total
cases. In the remaining third, PDA, single ventricle, AV
canal defect, TGA and asplenia or polysplenia syndromes
are associated.
Abnormal Anatomy
Supracardiac type: Commonly four pulmonary veins from
both lungs join together and form a venous sinus or
confluence behind the left atrium. The venous confluence
joins to left innominate vein through the left vertical vein
and ultimately connects to right SVC and to RA. The vertical
vein normally passes between the left pulmonary artery
and left bronchus but in some cases in between these two
structures it may be compressed producing obstruction to
blood flow, which is known as a hemodynamic vise.
Cardiac type: In this type abnormal venous channel from
the confluence directly join the coronary sinus which drains
to RA, this makes the coronary sinus significantly dilated.
In some forms of cardiac type of TAPVC the abnormal
venous channel from the confluence joins directly to RA.
Infracardiac type: Here the abnormal vascular channel from
the confluence enters the abdominal cavity through the
esophageal hiatus of diaphragm and ultimately terminate
into the portal vein near its origin at the junction of splenic
vein and superior mesenteric vein. Pulmonary venous blood
from portal veins comes to hepatic circulation, then through
hepatic vein goes to IVC which drains to RA. Rarely the
abnormal channel may join the hepatic vein, ductus venosus
or the IVC directly.
Irrespective of type of TAPVC blood from pulmonary
circulation drains into right atrium. There has to be a
communication between right and left side of heart in this
anomaly to be compatible with life. Therefore an atrial septal
defect or patent foramen ovale is considered as a part of
the complex (obligatory shunt).
HEMODYNAMICS
In this anomaly, all pulmonary veins ultimately connect to
the systemic venous system and drainage occurs to RA.
The major hemodynamic changes depend on (a) size of
the inter atrial communication (size of the ASD), (b) presence
(obstructive type) or absence (unobstructed type) of
obstruction to pulmonary venous return, and (c) relative
resistance of systemic and pulmonary vascular bed.
TAPVC may be divided into two types—unobstructive
and obstructive. Infracardiac type is usually obstructive
while supracardiac and cardiac anomalous drainage are often
unobstructive. However supracardiac type sometimes may
have obstruction. Such obstruction may occur: (i) during
the abnormal course by extrinsic compression of
intrathoracic structure, (ii) intrinsic obstruction, (iii)
obstruction at the site of drainage, of the venous confluence
to systemic venous structures, and (iv) a restricted ASD
or PFO may also act like a venous obstruction as there is
no free flow from RA to LA. Infradiaphragmatic
obstruction may be of two types, discrete or diffuse. In
the Infradiaphragmatic type, obstruction to the abnormal
channel may be present at the site of entry in the diaphragm
or at the site of opening to portal vein, hepatic vein or to
IVC. When drainage is through the portal vein, the portal
 Total Anomalous Pulmonary Venous Connections
circulation in the liver acts as an obstruction to venous
return.
The hemodynamic of unobstructed type is similar
to atrial septal defect. RA receives the entire venous return
from systemic as well as pulmonary circuit. The amount
of blood flowing across the ASD into LA and LV and then
to systemic circulation depends on the size of the ASD and
relative compliance of the two ventricles. With a large ASD,
blood enter freely to left atrium but with decrease in
pulmonary vascular resistance and increase in RV
compliance after birth, more blood comes to RV through
tricuspid valve. Pulmonary circulation is three to five times
more than systemic, which give rise to right sided heart
failure (RV failure) in neonates and infants. Pressure in
both RA and LA are equal. Oxygen saturation (85-90%) is
also equal in all cardiac chambers and great vessels (aorta
and PA). Later in the course of the disease due to increased
319
Figs 35.2A to C: Schematic diagram of TAPVC (A)
Supracardiac type, common venous confluence (CVC) is
behind the LA receiving pulmonary veins (PV) which
communicate to left vertical vein (VV) then to left innominate
vein (LIV) which joins superior vena cava (SVC). (B) Cardiac
type, CVC joins coronary sinus (CS), which opens to right
atrium (RA). (C) Infracardiac type, CVC communicate to the
portal vein passing (POP) through the diaphragm in the
esophageal hiatus D. Ultimately pulmonary venous blood
passes through the hepatic circulation to hepatic vein (HV)
and to inferior vena cava (IVC) (SV—splenic vein, SMV—
superior mesenteric vein)
pulmonary flow, pulmonary vascular disease develops early
which subsequently decreases pulmonary flow and increases
systemic desaturation so cyanosis becomes prominent.
Pathophysiology of obstructive type is similar to
mitral stenosis. When there is obstruction to pulmonary
venous flow pulmonary venous pressure increases, which
leads to increase hydrostatic pressure in capillaries giving
rise to interstitial and alveolar edema. The infants become
very sick and die due to pulmonary edema, those who
survive develop pulmonary hypertension in due course of
time.
CLINICAL FEATURES
TAPVC being a heterogeneous disorder, clinical manifes-
tations vary widely. At one end of spectrum, symptoms
are mild and often overlap with those of other noncardiac
disease. At the other end patients are very symptomatic
 320 Clinical Diagnosis of Congenital Heart Disease
with tachypnea, diaphoresis, cyanosis, congestive heart
failure and failure to thrive.
Clinical manifestations differ depending on the presence
or absence of obstruction to the pulmonary venous return
and the pulmonary vascular resistance (PVR).
WITHOUT PULMONARY VENOUS
OBSTRUCTION AND LOW PVR
Symptoms
Patients with unobstructed pulmonary venous flow and low
PVR present with symptoms more or less similar to a large
ASD. Infants with dyspnea, tachypnea, diaphoresis during
feeding indicate presence of CHF. A dusky appearance or
mild cyanosis is invariably present. The majority of patients
have symptoms from 1st month of life and 80 percent die
mainly due to CHF before their first birthday if left untreated.
Signs
On examination there is mild cyanosis with features of
congestive heart failure. Peripheral pulses are well felt, there
is prominent precordial pulsation with RV impulse and left
parasternal heave over lower sternal border. On auscultation
first heart sound is single and loud, second heart sound is
widely split and fixed with loud P2. RV S3 is present in
most of the cases at left lower sternal border and an ejection
systolic murmur of grade 3-4/6 over upper left sternal border
(due to increased pulmonary flow) is audible. In some cases
pansystolic murmur (due to TR) and in about half of the
cases mid-diastolic murmur (increased flow across tri-
cuspid valve) over lower sternal border is present. In a few
cases a continuous murmur over upper left sternal border
mimicking venous hum is audible indicating presence of
obstructive type of supracardiac TAPVC.
WITHOUT PULMONARY VENOUS
OBSTRUCTION AND HIGH PVR
In uncorrected cases persistent high pulmonary flow
gradually gives rise to pulmonary vascular disease. Symp-
toms of high flow gradually disappear; in turn symptoms
of low cardiac output and cyanosis become more apparent.
Pulmonary and tricuspid flow murmurs gradually disappear
giving rise to signs of PAH.
WITH PULMONARY VENOUS OBSTRUCTION
Symptoms
Infants with obstruction may develop symptoms like
tachypnea, tachycardia and cyanosis within some hours of
birth. Dyspnea is severe because of marked pulmonary
venous congestion and cyanosis is marked because reduced
pulmonary flow. Death from pulmonary edema and RV
failure occurs within few days or weeks of life if left
untreated. Distinctive cat eye syndrome characterized by
congenital iridial and choroidal coloboma giving the
appearance of cat’s eyes is associated in some cases.
Signs
Though the clinical situation is grave, there are minimal
cardiac findings. The signs are that of PAH. There is no
cardiac enlargement, apical impulse is diffuse (RV type),
first heart sound is normal, second heart sound is closely
split, P2 is loud. A short faint systolic murmur over left
base is audible due to pulmonary arterial dilatation. Early
diastolic murmur due to pulmonary regurgitation is some-
times heard. Liver is enlarged with onset of RV dysfunction
due to PAH.
INVESTIGATIONS
Electrocardiography
In non-obstructed variety usually ECG features are similar
to that of large ASD secundum. There is right axis deviation,
right atrial enlargement and right ventricular hypertrophy
in the form of rsr’ in V1.
Patient having obstructed type show tall peak P
indicating right atrial enlargement and RVH in form of qR
pattern in V1 -V2. LV force is not prominent in left precordial
leads (Fig. 35.3).
Radiography
In non-obstructive type radiological picture simulates that
of ostium secundum ASD. RA and RV enlargement are
usual feature with large pulmonary trunk with its main
branches. The aorta with its roots is not prominent. Lung
fields are plethoric.
When left vertical vein connects with left innominate
vein and then with right SVC which drains into RA, it gives
 Total Anomalous Pulmonary Venous Connections
Fig. 35.3: ECG of TAPVC, showing right axis deviation, right
atrial enlargement and incomplete right bundle branch block
pattern
a pathognomic cardiac silhouette known as ‘figure of
8’, ‘snow-man’ or ‘cottage loaf’ appearance (Fig. 35.4).
The upper part of figure of 8 is formed by left vertical vein
on left side and by right SVC on the right side and its lower
part is formed by the dilated RA and RV.
In cardiac type, there is cardiomegaly with enlarged
right atrial appendage which produces a shelf like projection
into right upper margin in lateral view
In obstructive type of TAPVC features of severe
pulmonary venous hypertension is seen in PA view of X-
Ray Chest. The vascular markings are mottled and show
reticular appearance. There is distension of pulmonary veins
and lymphatics, with interstitial edema. There may be a
reticulonodular ‘ground glass’ appearance of the lung fields.
Kerly B lines are occasionally seen.
Note: The reticular pattern seen in the obstructive variety of
TAPVC is also observed in different types of left ventricular
inflow obstruction.
Echocardiography
2D echo with color Doppler mapping is the method of
choice for diagnosis of TAPVC. When there is situs solitus
and no major associated defect, these patients may be taken
for surgery directly after echocardiography. The most
important 2D echo finding is that not a single pulmonary
vein can be seen entering the LA. There are features of
right ventricular volume overload with dilated RA, RV and
paradoxical septal motion. The common pulmonary
venous confluence is easily imaged behind the LA in
321
Fig. 35.4: Chest X-ray of TAPVC, showing cardiomegaly, RV
contour, RA enlargement and typical supracardiac shadow
giving the appearance of ‘figure of 8’ (Courtesy: Dr SR Anil,
Apollo Hospital, Hyderabad)
four chamber and long axis views (Fig. 35.5). It is non
pulsatile and pulmonary veins are seen entering into it. Using
different windows the venous confluence can be traced to
the joining point of a systemic venous structure commonly
the left vertical vein connecting to left innominate vein and
then to right SVC. Color Doppler is of particular help to
identify the above structures by visualizing the type and
direction of their color flow pattern. Right to left flow across
an ASD seen by color flow imaging gives a very important
clue to the presence of TAPVC. When the venous
confluence is connected to the coronary sinus, it is
disproportionately dilated, best seen in parasternal long axis
and 4 chamber views. In fact dilatation of coronary sinus
arose strong suspicion of the confluence draining to it.
In the Infradiaphragmatic type the venous channel from
the confluence can be traced through the diaphragm to portal
vein in subcostal views by rotating the transducer in various
direction. When all four pulmonary veins are not seen
entering the venous confluence, a mixed type of TAPVC is
suspected.
Doppler interrogation also helps in assessing obstructive
TAPVC by measuring velocity inside the venous channels
in presence of obstruction which records high velocity
spectrum.
 322 Clinical Diagnosis of Congenital Heart Disease

A B

D
C

Figs 35.5A to D: Echocardiography of TAPVC (A) Suprasternal view showing pulmonary venous confluence (CC) communicating
to left innominate vein by left vertical vein, innominate vein joins superior venacava. (B) subcostal four-chamber view in another
patient shows pulmonary venous confluence (CV) behind the left atrium (LA) which joins superior vena cava (SVC), right panel
shows a large ASD secundum. (C) Color flow mapping in obstructive TAPVC, suprasternal view shows turbulence in left vertical
vein. (D) Doppler interrogation shows continuous high velocity spectrum indicating obstruction in the left vertical vein (Courtesy
A: Dr BK Mahala, Narayana Hrudayalaya, Bangalore, C and D by Dr SR Anil, Apollo Hospital, Hyderabad)

Assessment of pulmonary arterial pressure particularly 3D reconstruction procedure is also informative to delineate
in obstructive type and estimation of ventricular function is anomalous pulmonary veins and their site of drainage
an important finding of echocardiography in TAPVC. specifically in sick infants.

MRI Cardiac Catheterization

Although not often used, especially in infants, MRI is a If echocardiography is inconclusive or associated anomalies
reliable modality for diagnosis of TAPVC. It demonstrates are suspected, catheterization may be necessary. The
associated pulmonary venous obstruction and helps in catheter course and oxygen saturation data at different sites
postoperative assessment. A helical CT angiography with of cardiac chambers and pulmonary veins give the diagnosis.
 Total Anomalous Pulmonary Venous Connections
The pathognomonic finding is oxygen saturation in all
chambers and great vessels are same (85-92%). In
obstructive type RV and PA pressure are increased and
may be equal or more than LV and aortic pressure. Patients
whose systemic arterial saturation is less than 70 percent
and pulmonary artery pressure at or above systemic levels
are likely to have significant pulmonary venous obstruction.
The catheter course is typical as it passes through different
venous channels. When inter atrial communication is
restrictive, RA, RV and PA pressure are increased whereas
LA pressure is normal or low. One must be careful and
gentle while facing an obstruction during catheterization
because of chance of rupture of venous channels. In cardiac
type catheter from dilated coronary sinus enters into
pulmonary venous channel.
Selective Pulmonary Vein/Artery Angiography
If pulmonary veins cannot be entered directly, selective
right pulmonary artery angiography is done. Dyes to main
pulmonary artery is not preferred as a PDA is often present
in such infants. Pulmonary arteriography in levophase
usually shows the anomalous venous connection. In
levoangiocardiogram Snowman’s cardiac contour is seen.
Angiography directly in the common venous channel (if
the catheter enters) will outline its course and sites of
obstruction optimally. In infracardiac type, anomalous
connection of common pulmonary veins to portal vein is
very characteristic and it is described as “the tree in
winter.” When pulmonary venous drainage occurs to
coronary sinus the angiographic picture is very typical and
described as “golf-ball” appearance.
DIAGNOSIS
The supracardiac type of TAPVC (unobstructive type) is
suspected when the infant has dyspnea, tachypnea with
mild cyanosis and there is evidence of right ventricular
volume overload. RV impulse, left parasternal heave, loud
first heart sound, second sound widely split and fixed with
loud P2, an ejection systolic murmur over upper left sternal
border with mid diastolic murmur at lower left sternal
boarder are important clinical findings. A radiological finding
of typical ‘snowman’ or ‘figure of 8’ appearance is very
suggestive. The infracardiac type of TAPVC is suspected
when the infant is deeply cyanosed, tachypneic, dyspneic
and develop congestive heart failure with features of
323
pulmonary arterial hypertension. 2D echocardiogram with
color Doppler and in some cases selective angiocardiography
gives the final diagnosis in this type of TAPVC.
DIFFERENTIAL DIAGNOSIS
Conditions producing high pulmonary flow along with
cyanosis like TGA, Taussig Bing anomaly, persistent truncus
arteriosus and common atrium mainly come as differential
diagnosis of non-obstructive type of TAPVC.
Conditions producing PAH without shunt lesion like
congenital mitral stenosis, cor-triatriatum, pulmonary
venous stenosis, persistent fetal circulation are to be
differentiated from obstructive type of TAPVC.
Besides typical ECG findings and X-ray pictures, it is
2-D echo with Doppler differentiate these above conditions
from TAPVC.
COMPLICATIONS
1. Congestive cardiac failure.
2. Growth and developmental delay.
3. Frequent respiratory infections.
4. Pulmonary vascular disease.
5. Pulmonary edema in obstructive variety.
NATURAL HISTORY
In pre-surgical era prognosis was grave about 80 percent
were dying before they attend their first birthday due to
congestive heart failure, bronchopneumonia and severe
pulmonary hypertension secondary to early pulmonary
vascular disease. In another 20 percent of patient the
symptom are mild, congestive failure develops at a later
age and these patient live upto third or fourth decade of
life. When pulmonary vascular disease slowly progress and
there is an adequate inter atrial communication, the survival
chance is longer. In severe obstructive variety death occurs
within first week to first month of life. Recent better surgical
technique and improved postoperative care has changed
the outlook and prognosis.
GUIDELINES FOR MANAGEMENT
Medical Management
Neonates or infants presenting with severe cyanosis,
respiratory distress are immediately treated in intensive care
unit with mechanical ventilatory supports, inotropic agents,
 324 Clinical Diagnosis of Congenital Heart Disease
conventional anti-failure drugs (digoxin and diuretics),
correction of electrolyte imbalance and metabolic acidosis.
Recently in some advanced centres extracorporeal
membrane oxygenation (ECMO) is used as a life saving
procedure before surgery is done. Balloon or blade atrial
septostomy is done in restricted ASD before elective
surgery.
Surgical Management
The aim of the surgery is to create a communication
between left atrium and pulmonary venous system, closure
of the anomalous pulmonary venous connections to
systemic circulation and closure of ASD. It is done under
cardiopulmonary bypass and total circulatory arrest. Type
of surgery depends on the type of TAPVC. Recently surgery
is done even in neonates having obstructive type of TAPVC.
If there is no obstruction or congestive heart failure, surgery
is deferred till late infancy. Stage wise surgical repairs are
done by modification of original trans-atrial approach of
Cooley.
The surgical mortality rate which was about 50 percent
in early 1960s has come down to < 1% by 1980s because
of improved operative technique and postoperative care to
prevent complication like acute development of pulmonary
hypertension, to manage low output state and to prevent
pulmonary venous stenosis.
SALIENT FEATURES
1. None of the four pulmonary veins are connected to LA;
instead they form a venous confluence behind the LA
to join right-sided venous channels like SVC, coronary
sinus, IVC, portal vein or directly to RA. RA receives all
the venous return from systemic and pulmonary bed.
LA receives blood through an ASD/PFO.
2. Popular classification of TAPVC is known as Darling’s
classification, classified into three types, supracardiac,
cardiac and infracardiac. Supracardiac is the
commonest followed by cardiac. Infracardiac type is
uncommon.
3. Clinical manifestations depend upon presence of
obstruction to pulmonary venous drainage and size of
ASD.
i. Supracardiac type without obstruction presents with
mild cyanosis, CHF, RV impulse, S2 wide and fixed
split and an ejection systolic murmur grade 3-4/6
over left sternal border.
ii. Infracardiac type is always obstructive. The infants
are quite symptomatic, pulmonary venous
hypertension develop early and death may occur
due to pulmonary edema or RV failure. Cyanosis,
tachycardia, evidence of PAH and faint or no murmur
are usual clinical features.
4. ECG shows right axis, RA enlargement and RBBB.
5. X-ray picture is diagnostic in supracardiac type with
‘figure of 8’ or cottage loaf like cardiac configuration.
Obstructive type shows evidence of severe pulmonary
venous hypertension.
6. Echocardiography confirms the diagnosis by demons-
trating the venous confluence behind LA and traces
the venous channel from the confluence to the point of
joining. Doppler delineates the flow pattern and
obstruction if present. Right to left flow across the ASD
is an important finding.
7. Balloon atrial septostomy is sometimes done when ASD
is restrictive. Corrective surgery is the definitive way of
management.
 36 Anomalous Systemic Venous Connections
When the systemic vein or veins are not connected in a
normal manner to right atrium (RA), the abnormal
anatomical condition is known as anomalous systemic
venous connection, which in physiological terms may or
may not be associated with anomalous systemic venous
return. Blood from abnormally connected vein or veins may
ultimately drain to RA resulting in normal venous return.
Isolated anomalies of systemic venous connections are
uncommon and carry no clinical importance in most of the
cases as no significant hemodynamic changes occur. On
the other hand, this anomaly is often associated with other
congenital cardiac lesions and detected during investigations
like echocardiography, cardiac catheterization, angiocardio-
graphy and MRI. Although they have less clinical
significance, but can be of major surgical importance during
repair of congenital heart diseases, if they are missed.
CLASSIFICATION
The atrial situs is important in the whole understanding of
venous return. The abnormal venous connections, both
systemic and pulmonary do occur when there is atrial
isomerism and abnormal situs. The anomalous systemic
venous connections, as isolated anomaly are rare and often
clinically not recognized. The major anomalies having clinical
importance are mainly of the following types:
1. Anomalies of superior vena cava:
a. Persistent left superior vena cava (LSVC) communi-
cating to coronary sinus
b. LSVC communicating to left atrium (LA)
c. Absent normal right sided superior vena cava
(RSVC) with persistent LSVC.
2. Anomalies of inferior vena cava (IVC):
a. IVC interruption with azygos continuation
b. IVC communicating to LA.
BR Mishra
3. Anomalies of coronary sinus (CS):
a. Unroofed coronary sinus
b. Atresia/hypoplasia of CS
c. Stenosis of ostium of CS
d. Diverticulum of CS.
4. Anomalies of ductus venosus:
a. Anomalies of umbilical vein
b. Persistent ductus venosus.
5. Total anomalous systemic venous communication.
6. Anomalies of the valve of the sinus venosus.
EMBRYOLOGY
Primitive veins develop as bilaterally symmetrical pairs of:
1. Vitelline veins or omphalomesenteric veins
2. Umbilical veins
3. Cardinal veins.
Cardinal veins consist of anterior and posterior veins
on each side which unite to form common cardinal veins
which in turn open to the right and left horns of sinus
venosus in their respective sides in about 20-somite stage.
Anterior cardinal veins drain from the upper part of the
body including upper limbs where as the posterior cardinal
veins drain from the lower part of the body and lower limbs.
Subsequently interconnections occur between these veins
with prominence of certain parts and regression of other
parts. Gradually the right cardinal veins become more
prominent. The extra pericardial part of superior vena cava
(SVC) develops from the right anterior cardinal vein and
the intra-pericardial part develops from right common
cardinal veins. The right sinus horn is incorporated into
right atrium where as the left cardinal and vitelline veins
gradually regress. The left horn is separated from left
atrium. The transverse portion of sinus venosus and the
proximal left sinus horn become the coronary sinus. The
 326 Clinical Diagnosis of Congenital Heart Disease

distal left sinus horn and left common cardinal veins ulti-
mately become ligamentous structures (ligament of
Marshall). The posterior cardinal veins receiving blood from
lower part of body gradually regress with development of
other paired veins like sub-cardinal and supra-cardinal veins.
Inferior vena cava (IVC) develops from five different
embryonic venous channels. They are: (i) posterior
cardinals, (ii) supra-cardinals, (iii) sub-cardinals, (iv)
communication of right sub-cardinal with hepatic vein, and
(v) from part of hepatic vein which develops from right
vitelline vein. Ultimately the IVC is incorporated into RA.

PERSISTENT LEFT SUPERIOR VENA CAVA

Persistent left superior vena cava (LSVC) develops when
there is failure of obliteration of the left anterior cardinal
vein during embryonic development. It is a common venous
anomaly present in about 0.5 percent of normal population
and associated in about 3 to 5 percent of cases of congenital
heart disease. The left superior vena cava originates from
junction of left innominate and left jugular vein and descends
in front of aortic arch and subsequently drains to coronary
sinus. Very rarely the right superior vena cava may be
absent, and then all the venous blood from upper part of
body drains to enlarged coronary sinus through the LSVC.
When both left and right superior vena cava are present
there is usually a communication between both of them by
left innominate vein also known as the bridging vein (Fig.
36.1). The caliber of the bridging vein varies from atretic
to large.
In mirror image dextrocardia LSVC is the anatomically
correct vein. In this situation persistent right superior vena
cava carries the same significance as LSVC in situs solitus.
HEMODYNAMICS
As venous return from LSVC is less than one fifth of cardiac
output and the same is directed to the right atrium through
the coronary sinus, there occurs no hemodynamic
abnormality.
CLINICAL FEATURES
Nonspecific clinical finding is detected except in some cases
an abnormal left jugular pulsation over neck is visible.
Fig. 36.1: Schematic diagram showing persistence of left
superior vena cava (LSVC) draining to coronary sinus (CS).
Arrow indicates direction of blood flow [(LA—left atrium, RA—
right atrium, LV—left ventricle, RV—right ventricle, SVC—
superior vena cava, InnoV—innominate vein (bridging vein)]
INVESTIGATIONS
ECG findings are usually within normal limit except
sometimes superior P wave axis and atrial arrhythmias are
recorded.
Increased width of the vascular pedicle on left border
of mediastinum if detected in P-A view of chest X-ray, the
presence of left superior vena cava is suspected.
Echocardiography clearly demonstrates a dilated
coronary sinus with anomalous connection of LSVC.
Coronary sinus is seen in parasternal long axis in the
atrioventricular groove behind the left atrium (LA), which
is typically dilated in persistent LSVC. In 4-chamber view,
slight posterior angulation reveals the coronary sinus in its
long axis. LSVC is imaged from suprasternal view as a
vertical structure on the left side of aortic arch. The typical
venous flow pattern visualized by color and PW Doppler
helps in its identification.
Contrast echocardiography is particularly useful in
the diagnosis of LSVC. In presence of a persistent LSVC
to coronary sinus, contrast like an agitated saline injected
to left antecubital vein promptly appears in coronary sinus
before appearing in right atrium (RA) and right ventricle
 Anomalous Systemic Venous Connections
(RV). A contrast study is sometimes done routinely if the
coronary sinus is dilated. During catheterization the catheter
course detects the venous anomalies depending on from
which site it is approached. Through femoral vein, catheter
enters coronary sinus, then left superior vena cava. When
approached through left antecubital vein it makes an acute
angle when enters left superior vena cava then it courses
through left side of the mediastinum and subsequently,
enters the coronary sinus. Selective peripheral angiogram
is helpful in detecting the venous abnormalities.
LEFT SUPERIOR VENA CAVA
DRAINING INTO LEFT ATRIUM
The persistent left superior vena cava (LSVC) passes inferior
to left pulmonary artery and drains to left atrium (LA)
between the left atrial appendage and the left superior
pulmonary vein. It is often associated with right atrial or
sometimes left atrial isomerism. Other congenital heart
diseases that are associated with a LSVC draining to LA
are TOF, single ventricle, common atrium, complete AV
canal defect and Eisenmenger’s syndrome. As the
embryological basis of LSVC draining directly to LA is
failure of development of coronary sinus, absent coronary
sinus is a part of the defect. Coronary sinus type of ASD is
sometimes also developmentally related producing
combination of ASD, unroofed coronary sinus and LSVC
draining to LA (Raghib’s complex) (Fig. 36.2).
HEMODYNAMICS
LSVC to LA communication acts like a right to left shunt
diverting desaturated blood to LA. There is an extra amount
of blood coming to LA through LSVC, but at the same
time, an equivalent amount also bypasses the lung, and
therefore deducted from pulmonary venous return. The
total LA and LV output remain normal giving rise to no
extra hemodynamic burden except for systemic
desaturation. When ASD is associated, it results in a left to
right shunt.
CLINICAL FEATURES
In isolated defects, the important clinical finding is cyanosis
from birth but the infant is otherwise completely asympto-
matic. Apex beat is normally felt, heart sounds are normal.
327
Fig. 36.2: Schematic diagram showing persistence of left
superior vena cava (LSVC) draining to left atrium. Arrow
indicates direction of blood flow. Dotted line indicates unroofed
coronary sinus (CS) (LA—left atrium, RA—right atrium, LV—
left ventricle, RV—right ventricle, SVC—superior vena cava,
InnoV—Innominate vein)
No murmur is audible over precordium. Rarely patients may
present with supraventricular arrhythmias.
INVESTIGATIONS
ECG findings are within normal limits except in some cases
left ventricular dominance or hypertrophy may be present
the cause of which is not clear. Atrial arrhythmia and
superior ‘P’ axis are common features.
Increased width of the vascular pedicle on left border
of mediastinum in P-A view of chest X-ray arouses
suspicion of LSVC to LA (Fig. 36.3).
Echocardiography delineates the LSVC and its site of
drainage into LA in suprasternal view. Contrast
echocardiography is particularly useful in the diagnosis of
LSVC to LA. When contrast like an agitated saline is injected
to left antecubital vein, it immediately appears in LA if LSVC
communicates to LA. Normally air bubbles in agitated saline
cannot cross the lung capillary to reach LA. However, in
pulmonary arteriovenous fistula similar contrast can come
to LA but does so after several cycles of injection to a
peripheral vein thus it differentiates the presence of LSVC
to LA connection.
When the catheter enters through the left antecubital
vein, it demonstrates the typical abnormal course of the
 328 Clinical Diagnosis of Congenital Heart Disease
Fig. 36.3: X-ray chest showing persistence of left superior
vena cava (arrow)
catheter, which follows left superior vena cava until it drains
to LA. The oxygen step up occurs in left superior vena
cava near its mouth but systemic desaturation is recorded
(LA, LV and aortic oxygen saturations are decreased).
Selective angiography delineates the exact course of the
left superior vena cava.
This anomaly has surgical importance when associated
with other congenital diseases and needs to be identified
before surgery is planned.
IVC INTERRUPTION WITH AZYGOS
CONTINUATION
Communication between right sub-cardinal and hepatic vein
incorporates IVC to RA. Failure of such communication
results in absence of hepatic portion of IVC. In this situation
anastomosis between right sub-cardinal and right supra-
cardinal veins divert IVC blood to RA through the azygos
vein (Fig. 36.4). If similar anastomosis develops in the left
side then hemi-azygos vein drains IVC blood to a persistent
LSVC and through coronary sinus to RA. The hepatic vein
drains directly to RA. IVC interruption with azygos
continuation is frequently seen in cases of situs inversus
Fig. 36.4: Schematic diagram showing interruption of inferior
venacava (IVC) with azygos continuation (AzV). Arrow
indicates direction of blood flow (LA—left atrium, RA—right
atrium, LV—left ventricle, RV—right ventricle, SVC—superior
vena cava, HV—hepatic vein, L—liver, IVC—inferior vena
cava)
with levocardia and other visceral heterotaxy syndromes.
It is also associated with AV canal defects, DORV and
transposition complexes.
Patients having isolated IVC interruption are asympto-
matic. No abnormal clinical findings are detected. On chest
X-ray if the right supracardiac border (near junction of
SVC and RA) appears bulged, then presence of dilated
azygos vein is suspected.
Echocardiography is helpful in the diagnosis of IVC
interruption. In subcostal view the hepatic portion of IVC
is absent, instead the hepatic vein directly connects to RA.
Hepatic vein may be confused with IVC but tracing the
vessel shows that hepatic vein ends within the liver but
IVC can be traced beyond it. Subcostal scanning also
demonstrates the azygos vein posterior and lateral to aorta
that can be traced above the diaphragm without entering
the RA. The entry site of azygos vein to SVC can be imaged
in a suprasternal view. Color Doppler flow helps in
identification of these veins by its typical flow pattern and
the direction of flow. If the blood from lower part is diverted
on left side through a hemiazygos vein, it can be traced to
a persistent LSVC which connects to coronary sinus and
then to RA (Fig. 36.5).
 Anomalous Systemic Venous Connections
Fig. 36.5: Echocardiogram showing IVC interruption with
hemiazygos (arrow) continuation to persistent left superior
vena cava (LSVC) (CS—coronary sinus, RA—right atrium)
(Courtesy: Dr BK Mahala, Narayana Hrudayalaya, Bangalore)
Diagnosis is established by cardiac catheterization and
angiocardiography. The catheter when passed from below
cannot enter RA or RV, although it appears that the catheter
is in RA, instead it repeatedly goes to SVC (because the
catheter is outside and behind the heart and, not in RA).
Venous angiography delineates the anomalous course of
venous drainage and gives the final diagnosis. MRI is also
diagnostic.
ANOMALOUS CONNECTION
OF IVC TO LEFT ATRIUM
It is mostly associated with levocardia with situs inversus.
Isolated cases are extremely rare. Sometimes in ASD
secundum a large Eustachian valve directs IVC blood to
LA producing anomalous venous drainage in spite of normal
anatomical connections. This may produce cyanosis in
presence of a left to right shunt at atrial level. The symptoms
and signs of isolated communication of IVC to LA are similar
like LSVC draining to LA. Cyanosis and subsequently
clubbing is the main and may be the only clinical
feature. No murmur is audible. ECG is normal but at
times shows left ventricular hypertrophy as in LSVC to LA
the cause of which is not clear. Catheter when passed from
femoral vein enters to an atrium where oxygen saturation
almost similar to systemic one and then it goes to pulmonary
329
Fig. 36.6: Echocardiogram showing inferior vena cava (IVC)
draining to left atrium (LA) in subcostal view (RA—right atrium)
(Courtesy: Dr BK Mahala, Narayana Hrudayalaya, Bangalore)
vein. Catheter when passed from upper limb goes normally
to SVC then RA to RV and then to pulmonary arteries with
normal oxygen saturation. Echocardiography shows IVC
communicating to LA in subcostal scanning (Fig. 36.6).
Diagnosis is established by cardiac catheterization, angio-
cardiography or by MRI.
ANOMALIES OF CORONARY SINUS
Coronary sinus is normally situated in the atrioventricular
groove behind the left atrium and drain to the right atrium,
close to the opening of IVC.
Clinically important anomalies are:
1. Unroofed coronary sinus: In this anomaly, the normal
partition between coronary sinus and left atrium is
absent, therefore, it drains to both left and right atrium.
As such, it does not have any adverse hemodynamic
consequence, but it is associated with persistent left
SVC and coronary sinus type of ASD (Raghib’s
complex)
2. Hypoplasia, atresia or absence of coronary sinus
3. Stenosis of coronary sinus at the opening to RA (coro-
nary sinus stenosis)
In the above two situations coronary sinus blood
find alternative pathways for drainage, commonly
through dilatation of Thebesian veins that drain to RA
 330 Clinical Diagnosis of Congenital Heart Disease
or through a LSVC then through innominate vein to
RSVC and RA.
4. Rare anomalies of coronary sinus include coronary sinus
draining to IVC, coronary sinus diverticulum that may
bury through left or right ventricular wall and may
communicate with a cardiac chamber. Coronary sinus
diverticulum may be associated with accessory path-
ways. Rarely, one of the pulmonary veins is connected
to coronary sinus.
TOTAL ANOMALOUS SYSTEMIC VENOUS
CONNECTION
In absence of right SVC and intrahepatic segment of IVC,
hemiazygos continuation occurs up to left SVC that drains
into LA. In this situation hepatic vein is connected to LA,
interatrial septum is absent and RA is hypoplastic. LA
receives all the venous blood both systemic and pulmonary
from which blood goes to both ventricles, unlike total
anomalous pulmonary venous communication (TAPVC)
there is no increased pulmonary flow.
Cyanosis is present, heart sounds are normally heard
and ejection systolic murmur 2/6 is present over lower left
sternal border. ECG shows nodal rhythm. Diagnosis is
established by echocardiography, cardiac catheterization,
angiocardiography or MRI before the patient is advised for
surgery.
ANOMALIES OF DUCTUS VENOSUS
In postnatal life anomalous connection of umbilical vein
may cause difficulty during umbilical vein cannulation.
Rarely the ductus venosus may persist with normal
regression of umbilical veins.
Persistent ductus venosus connects portal vein to IVC,
therefore blood from portal vein bypasses the liver. This
may result in encephalopathy, the identification of cause of
which is important from management point of view.
ANOMALIES OF THE VALVE OF
THE SINUS VENOSUS
Normally after development of venous structures the valves
of the sinus venosus regress. The remnants are seen as
Eustachian valve guarding the opening of IVC, Thebesian
valve guarding the coronary sinus ostium, the crista
terminalis of right atrium and Chiari networks which are
fine filamentous structures inside the RA.
Abnormal development of right valve of the sinus
venosus may result in abnormally large Eustachian and
Thebesian valves. In presence of an ASD, large Eustachian
valve can divert IVC blood to LA resulting in cyanosis.
Sometimes persistence of a large sac like structure in RA
which are abnormal remnants of the valve of right sinus
venosus may cause obstruction to blood flow at different
levels. As for example the obstruction sites are at the opening
of IVC or coronary sinus or at tricuspid valve level or by
protruding through tricuspid valve it causes obstruction to
RV outflow tract.
SALIENT FEATURES
1. When the systemic veins are not connected in a normal
manner to right atrium, the abnormal anatomical
condition is known as anomalous systemic venous
connection.
2. In most of the cases, there are no significant
hemodynamic changes. But their presence can be of
major surgical importance during repair of congenital
heart diseases.
3. Persistent left superior vena cava (LSVC) draining to
coronary sinus results in no hemodynamic abnormality.
LSVC to LA communication acts like a right to left shunt.
The amount of shunt is sufficient to produce cyanosis
but not enough to cause hemodynamic burden.
4. Dilated coronary sinus in echo arose suspicion of LSVC
draining to it. Contrast echocardiography is useful for
the diagnosis.
5. During catheterization the catheter course detects the
venous anomalies depending on from which site it is
approached.
6. In IVC interruption, venous blood from lower part of
body drains to RA by azygos continuation on right side,
or by hemiazygos continuation on the left side. The
hepatic vein drains directly to RA.
7. In unroofed coronary sinus, the normal partition
between coronary sinus and left atrium is absent. It is
associated with persistent left SVC and a coronary sinus
type of ASD (Raghib’s complex).
 37 Congenital Pulmonary
Arteriovenous Fistula
SYNONYM
Pulmonary arteriovenous aneurysm, pulmonary AV fistula
and hemorrhagic telangiectasia with pulmonary arterial
aneurysm.
DEFINITION
Congenital pulmonary arteriovenous (AV) fistulas are direct
communications between pulmonary arteries of varying
size with pulmonary veins without going through capillaries
(Fig. 37.1).
HISTORY
Churton first described pulmonary AV fistula in 1897. Smith
and Horten for the first time clinically diagnosed pulmonary
AV fistula in 1939. First surgical correction of pulmonary
AV fistula was done by Hepburn and Dauphine in the year
1942.
EMBRYOLOGY
In the embryo between 3rd to 10th weeks, angiogenic cells
appear from the primitive mesenchymal cells that form
clusters called blood islands. They gradually develop to form
plexuses of vessels by process of coalescence; resorption
and separation giving rise to discrete capillaries. Cells derived
from neuroectoderm surround these primitive vessels to
form smooth muscle cells. In normal process gradually
well-differentiated arterial and venous channels join the
capillaries. Abnormality of this complex process of
vasculogenesis is responsible for abnormal communications
directly (not through capillaries) between pulmonary artery
and veins.
INCIDENCE
Pulmonary AV fistula is not uncommon. It is hereditary
and also familial, accompanied by hemorrhagic telangiectasia.
SN Routray, BR Mishra
Fig. 37.1: Schematic diagram showing a tortuous channel (bold
arrows) connecting the pulmonary artery (PA) to pulmonary
vein (PV) bypassing the lung capillaries. Thin arrows show
direction of blood flow (LA—left atrium, RA—right atrium, LV—
left ventricle, RV—right ventricle, Ao—aorta)
It is sometime associated with cirrhosis of liver and
polysplenia syndrome. No sex predilection is seen.
PATHOLOGY
Pulmonary AV fistula may be a part of generalized vascular
disorder. It may be associated with other vascular anomalies
like hereditary hemorrhagic telangiectasia (Rendu-Osler-
Weber syndrome) in about 50 to 70 percent of cases.
Capillary hemangioma and spider nevi are sometimes
associated. Pulmonary AV fistulas are mainly of two
types—localized or diffuse type. The size varies from
very small (pin head) to a quite big size, even sometimes
encroaching upon the whole lung. Their number varies
usually from two to several ones. They are mainly seen at
left lower lobe or right middle lobe. The AV fistula may
occur in both lung fields. The gross pathology is an enlarged
and tortuous pulmonary artery or multiple pulmonary
 332 Clinical Diagnosis of Congenital Heart Disease
arteries entering an aneurysmal sac or multiple sacs then
almost an equal size of tortuous vein or multiple veins
emerge from it. The arterial walls are thinly lined by
endothelium, smooth muscle layer is disorganized and the
intimal layer is lost. The veins emerging from it appear
arterialized and thicker than normal. Some of these
pulmonary AV fistulas are solitary large fistulas; they are
usually saccular in nature. The aneurysmal sac may consist
of multiple communications between convoluted mass of
dilated arteries called plexiform AV fistulas. These plexiform
lesions are small, scattered and may be multiple.
Sometimes the sac is very large and rounded, with
thrombus in some. Rarely the fistula may receive blood
from a systemic artery such as bronchial, intercostal or
internal mammary artery in addition to pulmonary artery.
At times systemic arteriovenous fistula can be sequestered
between the lobes of lungs. A direct communication
between a pulmonary arterial segment and left atrium
represent a special type of pulmonary arteriovenous fistula
which is due to complete incorporation of venous part of
fistula into the left atrium during embryogenesis.
HEMODYNAMICS
Blood flows from pulmonary artery through the abnormal
channels to pulmonary veins because of pulmonary artery
pressure is higher than pulmonary venous pressure. The
magnitude of the shunt flow depends on the size and
number of communications. It usually covers less than half
of the cardiac output and does not alter the amount of
venous return to left side of the heart, so volume overload
or chamber enlargement does not occur. A portion of
desaturated blood from right ventricle enters the left
side of the heart without passing through lung
capillaries, it is a veno-arterial shunt that causes
systemic desaturation (oxygen saturation between 75 to
85%). These are right to left intrapulmonary shunts, rarely
extra-pulmonary connections between right pulmonary
artery and left atrium occur. This is in contrast to systemic
AV fistula where cardiac output is increased and significant
hemodynamic changes occur.
Flow through the fistula located in lower lobes decreases
when they are mechanically compressed as in pregnancy
and upright posture. Inspiration and Muller maneuver
increases flow through the fistula where as expiration and
Valsalva maneuver has the opposite effect.
CLINICAL FEATURES
The clinical features depend on the size and number of
pulmonary AV fistulas and the magnitude of the shunt.
Symptoms
Most of the children are asymptomatic till adulthood. Only
a few with very large shunts become symptomatic in early
infancy or in childhood. In a large series, mean age of
presentation was 39 years (3 years to 73 years). Cyanosis,
clubbing and exertional dyspnea are main symptoms. The
disease in adults has varieties of symptoms involving
different organs. Cerebral symptoms like dizziness, diplopia,
and speech abnormalities due to transient ischemic attack
may occur because of paradoxical embolism. Headache
commonly occurs due to polycythemia. Mucosal heman-
gioma may cause epistaxis, hematuria and hematemesis.
Sometimes hemoptysis is also a presenting feature. It occur
due to rupture of sacs into bronchus. Rarely infants present
with deep cyanosis and features of congestive heart failure.
Infective endarteritis involving the fistulous sac is a very
rare mode of presentation.
Sings
Pulse, blood pressure and JVP are within normal limits.
Cyanosis and clubbing are common findings. It may be
minimal when shunt is small and intense when shunt is
large. The classic triad of cyanosis, clubbing and poly-
cythemia usually appear in early adult life. There is no
cardiomegaly, both heart sounds are normal, no murmur is
audible over precordium. A soft systolic murmur or some-
times a continuous murmur depending on size of the shunt
is audible over the underlying fistula in about 50 percent of
patients. Continuous murmur when present is louder
during systole as the major portion of flow through
the fistula is during systole. These murmurs increase
with deep inspiration and Muller’s Maneuver where as
decrease in expiration and Valsalva maneuver. Intensity of
murmur also varies with posture and sometimes disappear
during pregnancy.
Often pulmonary arteriovenous fistula is suspected
because of the accidental discovery of abnormal shadows
in the chest X-ray.
Hereditary hemorrhagic telangiectasia is also a
presenting feature in fairly good number of cases.
 Congenital Pulmonary Arteriovenous Fistula 333

INVESTIGATION
Electrocardiography
The electrocardiogram is characteristically normal.
Abnormal ECG is exceptional. Left axis deviation, left atrial
enlargement and left ventricular hypertrophy in cases with
huge fistula has been reported particularly with direct
communication between right pulmonary artery and left
atrium.

Radiography
The cardiac size and contour are normal in the majority.
Cardiomegaly may be present in a very large lesion. Single
or multiple well-defined rounded or lobulated opacities
in the lung fields are present on frontal or lateral chest
X-ray in 50 percent of cases. Opacities vary widely in size
and distribution (Fig. 37.2). Careful observation may show Fig. 37.2: X-ray chest showing bilateral multiple dense opacities
a vascular shadow connecting the pulmonary opacity and due to pulmonary AV fistulas (Courtesy: Dr PK Pati, CMC,
another shadow coming out of it. Diffuse small fistulas Vellore)
may not show any opacity in chest X-ray. Rarely dilated
feeding artery as well as emerging vein from the
tortuous intercostals arteries cause localized notching of
fistulous sac is well demonstrated (Fig. 37.3). Smaller
ribs.
lesions not demonstrated in X-ray are uncovered by
Echocardiography pulmonary arteriography. Attempt to catheterize the fistula
may rupture and produce hemorrhage, therefore should be
Direct visualization of fistulas is not possible. When pulmo- avoided. An aortogram is necessary to discover a possible
nary AV fistula is suspected on clinical and radiological
systemic arterial supply.
grounds, a conventional contrast media like an agitated saline
is injected to a peripheral vein, which cannot cross the
pulmonary capillary bed. On peripheral venous injection,
the contrast is seen in right side of heart immediately. But
under normal circumstances it cannot pass to the left side
of heart. In presence of pulmonary AV fistula contrast
appear in the left side after several cardiac cycles, which
virtually confirms presence of pulmonary AV fistula. In
presence of intracardiac right to left shunts, contrast appears
in left side immediately after it is seen in right side, but
delayed appearance of contrast after several cycles rules
out intracardiac shunt.

CARDIAC CATHETERIZATION AND

ANGIOCARDIOGRAPHY
Systemic arterial desaturation is present otherwise
catheterization data are normal.
Contrast injection to appropriate pulmonary artery shows Fig. 37.3: Selective pulmonary angiography shows multiple
the fistula, which is dilated, elongated and tortuous. The pulmonary AV fistulas (arrows)
 334 Clinical Diagnosis of Congenital Heart Disease
Spiral CT Angio/MR Angio
Non-invasively pulmonary AV fistula can be accurately
diagnosed by spiral CT angio and MR angiography.
DIAGNOSIS
When a relatively asymptomatic child or an adult having
cyanosis with clubbing; has no obvious cardiac findings
like abnormal heart sounds and murmur over precordium
with normal ECG; one should suspect clinically pulmonary
AV fistula. With above findings presence of cutaneous or
mucosal telangiectasia favors the clinical diagnosis of
pulmonary AV fistula. Some cases a faint systolic murmur
or continuous murmur may be present over lower part of
the chest mainly on left side. X-ray chest shows single or
multiple well defined opacities; pulmonary angiography
confirms the diagnosis.
DIFFERENTIAL DIAGNOSIS
Clinical conditions having cyanosis and clubbing with normal
cardiac findings come under differential diagnosis, they are
1. Anomalous systemic venous connection to LA: Cyanosis,
no abnormal cardiac findings and X-ray showing no
opacities in lung fields go in favor of anomalous
systemic venous connection to LA. Contrast echo is
diagnostic which differentiates these two conditions.
2. Primary polycythemia: It is usually seen in adults. The
skin color is peculiar; that is reddish or purple. The
main differentiating point is oxygen saturation in
systemic artery is normal where as in pulmonary AV
fistula it is always decreased.
3. Methemoglobinemia: Methemoglobinemia presenting
with cyanosis without cardiac abnormalities, may be
confused with pulmonary AV fistula, but detection of
methemoglobin in blood is diagnostic.
4. Opacities in X-ray chest with a normal heart confuse
with the diagnosis of tuberculosis, histoplasmosis and
rarely neoplasm. Careful history, other systemic findings
and specific investigations well differentiate these
conditions. Presence of calcification is very unusual in
AV fistula.
PROGNOSIS
In general prognosis is good. Death is often due to
extracardiac causes. With increasing age fistulas may
increase in size and number. Increasing polycythemia adds
to symptoms and complications. In a series it is reported
that 27 percent of patients died in childhood or early adult
life, 12 percent were alive but symptomatic, 37 percent
were alive and asymptomatic and 24 percent died from
unrelated causes.
COMPLICATION
Though complications are rare in infancy the following
complication may occur in adults.
1. Polycythemia secondary to systemic desaturation.
2. Paradoxical embolism causing TIA, stroke and cerebral
abscess.
3. Infective endarteritis.
4. Rupture of fistulous sac causing hemorrhage.
5. Very rarely congestive heart failure.
GUIDELINES FOR MANAGEMENT
There is no specific medical management. Closure of fistula
by catheter embolization is the procedure of choice (known
as selective embolotherapy). Stainless steel coils and
detachable balloons are used. In children coils are preferred
for catheter embolization. Surgical removal of lesions may
also be performed which have a better long-term prognosis.
Because of progressive nature of the lesion indication for
surgical resection is limited and conservative management
(embolotherapy) is preferred.
SALIENT FEATURES
1. In pulmonary arteriovenous fistula there is direct
communication between the pulmonary arteries and
the pulmonary veins without intervening capillary
system.
2. The clinical pictures of this anomaly depends on the
size and number of pulmonary artery fistula. Common
complaints are easy fatigability, headache, epistaxis
and hemoptysis due to associated vascular anomalies
like hereditary hemorrhagic telangiectasia.
3. Clinical examination shows cyanosis, clubbing,
cutaneous telangiectasia, no cardiomegaly, no cardiac
murmur but continuous murmur may be present over
lower part of the chest and X-ray showing multiple
pulmonary opacities almost confirm the diagnosis.
4. Echocardiographic appearance of contrast in left side
of heart, 3-4 cardiac cycles after venous injection gives
the diagnosis.
5. Pulmonary angio (conventional/CT/MRI) confirms the
site, number, size and the feeding artery.
6. Nonsurgical (coil closure) or surgical measures are
advised when fistula is large.
38 Complete Interruption of Aortic Arch
DEFINITION
It is defined as complete anatomical separation of ascending
aorta from descending aorta at variable locations. Ascending
aorta continues as brachiocephalic vessels and descending
aorta originates from pulmonary trunk by way of a patent
ductus arteriosus.
HISTORY
It was first described by Raphael Steidele in 1788. First
successful repair of interrupted aortic arch was done by
Merrill in 1957.
INCIDENCE AND PREVALENCE
It accounts for 1 percent of all congenital heart diseases.
Isolated interruption of aortic arch is extremely rare. It is
mostly associated with congenital heart diseases. Sex
incidence is equal.
Higher incidence of chromosomal disorder
(chromosome 22q11 deletion) and DiGeorge syndrome are
associated mainly with Type B defect. Immunological
defect play some role in this situation. Recently cytogenic
abnormalities have been detected.
CLASSIFICATION
Initially Abbott classified complete interruption of aortic
arch into two types. Subsequently Celoria and Patton
classified it into three types (Type A, Type B and Type C)
in 1959, which is now well accepted (Fig. 38.1).
Type A: Interruption after normal branching of the arch
(distal to left subclavian artery).
Type B: Interruption between left common carotid artery
and left subclavian artery.
BR Mishra, M Satpathy
Type C: Interruption between right innominate artery and
left common carotid artery.
Type B is common, accounts for about 53 percent of
all cases. It is mostly associated with VSD (conal septal
malalignment type with sub-aortic obstruction) and
DiGeorge syndrome. Type A is present in 43 percent and
Type C is the least common present in only 4 percent of
cases. These three types of defects of interruption of aortic
arch are distinct anatomical entities. Shones complex having
multiple obstructive lesions of left side of heart are implicated
with this anomaly.
EMBRYOLOGY
It is due to maldevelopment of aortic arch because of early
failure of formation or later regression of specific aortic
segments. The other developmental hypothesis is that
intrauterine decrease, in aortic flow due to congenital
defects results in hypoplasia of ascending aorta leading to
regression of aortic segments producing arch interruption.
This is known as the “flow theory”. The Type A defect is
due to atrophy of proximal left dorsal aorta. Type B defect
is due to regression of the left dorsal aorta or fourth aortic
arch during sixth to seventh week of intrauterine life. During
this period of intrauterine life the heart shifts caudally to
take its position in the thorax. Type B interruption is
associated with cono-truncal anomalies like hypoplasia of
sub-aortic area and ventricular septal defect (VSD), which
together reduce the left ventricular output to aorta which
plays a role in the genesis of interruption of aortic arch. In
all these cases the descending aorta is connected with
pulmonary trunk by a large patent ductus arteriosus due to
persistence of left sixth aortic arch.
 336 Clinical Diagnosis of Congenital Heart Disease
ASSOCIATED LESIONS
This anomaly is associated with double outlet right ventricle,
aorto-pulmonary window, truncus arteriosus, single
ventricle, TGA and congenitally corrected transposition.
HEMODYNAMICS
Part of venous blood from pulmonary artery passes to lungs
and another part passes through a patent ductus arteriosus
to descending aorta. Oxygenated blood flows to ascending
aorta from left ventricular cavity, which is distributed to
upper extremity, head and neck areas. Blood from right
ventricle (RV) enter both lungs through pulmonary arteries
and also enters systemic circulation through patent ductus
which continues as descending aorta. Therefore RV is
dilated and hypertrophied. As a large ventricular septal defect
is almost always present, saturated blood from left ventricle
goes to right ventricle and pulmonary artery and through
ductus to descending aorta. Therefore, cyanosis is not
Figs 38.1A to C: Schematic diagrams of different types of
aortic arch interruption: (A) Type A interruption, distal to left
subclavian artery, (B) Type B interruption, between left
common carotid and left subclavian and (C) Type C
interruption, between right innominate and left carotid arteries.
Descending aorta continues from pulmonary artery through
ductus arteriosus (Ao—aorta, PA—pulmonary artery, RPA—
right pulmonary artery, LPA—left pulmonary artery, DA—
descending aorta, D—ductus arteriosus, RS—right subclavian,
RC—right carotid, LC—left carotid and LS—left subclavian)
marked in lower limb. Blood flow through PDA depends
on relative resistance of pulmonary and systemic circulation.
So long the ductus arteriosus is patent and VSD is
present the neonate is hemodynamically stable (clinically
asymptomatic). When ductus starts closing significant
decrease in flow to the trunk and lower limbs occur. Closure
of patent ductus is catastrophic and may lead to death.
Subclavian steal may occur when a subclavian artery
arise distal to the interruption, because the collaterals from
ascending aorta to descending aorta via the circle of Willis
and vertebral arterial system reduces cerebral blood flow.
CLINICAL FEATURES
Neonates when born, appear healthy. But after a brief period
with the onset of closure of ductus arteriosus they become
symptomatic. Respiratory difficulties, tachypnea, tachy-
cardia and heart failure are usual features. The infant ulti-
mately goes to circulatory shock and develop severe
 Complete Interruption of Aortic Arch
acidosis. Differential cyanosis should be present as lower
limbs get blood from pulmonary artery through a patent
ductus. Presence of a large VSD with left to right shunt
increases saturation in the lower limbs; therefore differential
cyanosis is not detected clinically. Rarely reverse differential
cyanosis is seen when the interruption is associated with
TGA.
Practically to feel the pulse and interpret it correctly is
very difficult when a neonate is very sick but accurate
examination of peripheral pulses give definite clue for clinical
diagnosis. Peripheral pulses of both upper and lower limb
are normally felt as long as the ductus is patent. When
lower limb pulses are diminished it indicates ductal closure.
If left brachial pulse is diminished or absent, it indicates
left subclavian originating from descending aorta. When
carotid pulses are well felt but upper limbs (brachial) and
lower limbs (femoral) pulses are weak it indicates
interruption is proximal to both subclavian arteries. When
the situation is like coarctation of aorta, that is upper limb
pulses are well felt but lower limb pulses are diminished or
absent, it indicates both subclavians arise proximal to the
interruption. Weak left arm and femoral pulses with normal
right arm and carotid pulses usually indicate Type B
interruption. With this setting if carotids are weak it indicates
Type C interruption.
Cardiomegaly is present with RV impulse. Both the heart
sounds are normally heard. If ejection click is audible it
indicates presence of bicuspid aortic valve. No significant
or appreciable murmurs are audible in infants. Mid systolic
murmur over left parasternal border may be due to aortic
or sub-aortic stenosis. VSD murmur is not usually audible
because of its large size. No PDA murmur is audible as
the pulmonary trunk, the ductus arteriosus and
descending aorta behave as one continuous vessel.
INVESTIGATIONS
Electrocardiography
ECG shows right axis deviation, right atrial enlargement
and right ventricular hypertrophy. In some cases biventri-
cular hypertrophy is also seen. In rare occasions Q-T
interval is prolonged due to hypocalcemia associated with
DiGeorge syndrome.
Radiography
There is cardiomegaly with evidence of right atrial and right
ventricular enlargement. Main pulmonary artery is
337
prominent. Pulmonary vascularity is normal or increased.
Aortic knob is absent, mediastinum is narrow (because of
absence of thymus). Rib notching is present in older patient
either on one side or on both sides depending on the site of
the interruption and collateral connections. Origin of one
subclavian artery distal to interruption produces contralateral
rib notching.
Echocardiography
Echocardiography is very informative and safe investigation
for these sick infants, but technically challenging. Sub-
coastal views help to visualize intracardiac anatomy. The
suprasternal view helps in delineating ascending aorta, which
takes straight course and the specially arch of aorta. In
Type B defects. 2-D echocardiogram with color flow
imaging confirms the presence of PDA and the posterior
malalignment VSD.
Note: The clue for suspicion of interruption of aortic arch is
that the ascending aorta looks smaller in caliber then pulmonary
trunk. A continuity is maintained between pulmonary artery,
ductus and the descending aorta.
Cardiac Catheterization and Angiography
Cardiac catheterization and angiocardiography is done with
background knowledge of echocardiographic findings,
because of diversity of malformations encountered in this
anomaly. Catheterization and contrast material many times
are avoided as it is hazardous in very sick infants. However,
all cardiac chambers and great vessels with their branching
pattern are to be clearly delineated before surgery. Left
ventricular angio, selective aortography and right ventricular
angio help in delineating aortic arch branches, site of
interruption, the ductus arteriosus and the type of VSD.
The absence of continuity between the ascending aorta and
descending aorta strongly suggests interruption.
DIAGNOSIS
Clinical diagnosis is difficult without the help of investi-
gations. Usually an acyanotic apparently healthy neonate
becomes symptomatic and develops signs of congestive
heart failure in the first week of life. Peripheral pulses in
both limbs are initially equally felt, later on lower limb pulses
become weak or absent (due to ductal closure). This
observation leads the clinician to think of possibility of
 338 Clinical Diagnosis of Congenital Heart Disease
interruption of aortic arch. Right ventricular impulse, normal
heart sounds and no murmur or inconspicuous murmurs
are usual clinical signs. Electrocardiogram and roentgeno-
graphy are not very helpful but echocardiography suggests
the diagnosis of complete interruption which is confirmed
by angiography.
DIFFERENTIAL DIAGNOSIS
Clinical conditions where neonates becoming very
symptomatic with signs of congestive heart failure in the
first week of life come under differential diagnosis.
Conditions like hypoplastic left heart syndrome, pre-ductal
coarctation and critical aortic stenosis are to be
differentiated. When carotids are well felt, it goes in favor
of aortic arch interruption.
PROGNOSIS
In untreated cases natural course of this anomaly is grave.
About half of the infants die during first week of life, three
fourth die by first month and only about ten percent reach
their first birthday. The early fatal course of the disease
demands very early medical and subsequently surgical
management.
GUIDELINES FOR MANAGEMENT
In recent years prognosis has changed greatly by early
recognition of the anomaly and intensive medical care by
correction of fluid and electrolyte imbalance, and if necessary
inotropic support and prostaglandin E1 therapy (to keep the
duct patent) till the infant is stabilized for surgery. A lot of
improvement has occurred in the field of surgery from the
time of first stage repair by Barrott-Boyes done in 1972.
The mortality rate has reduced significantly. The aortic arch
reconstruction is done by homografts or by Gore-Tex tube
grafts.
SALIENT FEATURES
1. Interruption of aortic arch is defined as complete
anatomical separation of ascending aorta from that of
descending aorta at variable locations. Patent ductus
arteriosus continues as descending aorta.
2. Neonates when born, appear healthy, closure of ductus
arteriosus is catastrophic and may lead to death.
3. As a large VSD is almost always present, saturated
blood from LV goes to RV and MPA and through ductus
to descending aorta. Therefore, cyanosis is not marked
in lower limb.
4. On examination cardiomegaly with RV impulse,
disparity in peripheral pulses and without significant
murmur gives the clue to diagnose interrupted aortic
arch.
5. ECG shows right axis deviation, RA enlargement and
RVH. Roentgenography shows RA, RV and pulmonary
arterial enlargement. Pulmonary vascularity is normal
or increased. Aortic knob is absent.
6. Echocardiography delineates the site of interruption,
VSD and continuity between the pulmonary artery,
ductus and descending aorta.
7. Angiography confirms the diagnosis, determines site
of interruption, demonstrates the ductus and the type of
VSD.
8. Surgery is the definitive form of treatment.
 39 Eisenmenger Syndrome
INTRODUCTION
The clinical conditions known as Eisenmenger’s complex,
Eisenmenger’s syndrome, Eisenmenger’s disease or
Eisenmenger’s reaction are basically one disease belonging
to the group of shunt lesions with severe pulmonary
hypertension leading to bidirectional or reversal of shunt.
Eisenmenger Complex
In 1897 Viktor Eisenmenger first described a 32-year-old
male patient having features of exercise intolerance, heart
failure and hemoptysis prior to death. A large ventricular
septal defect with overriding of aorta was shown on autopsy.
This clinical condition having large VSD with reverse shunt
was subsequently known as “Eisenmenger’s complex”.
Eisenmenger Syndrome
Paul Wood in 1958 coined the term Eisenmenger’s syn-
drome to include all cardiac defects, initially having large
left to right shunt (irrespective of its site), who subsequently
develop pulmonary hypertension and reversal of shunt. The
common sites of lesions going for Eisenmenger’s syndrome
are VSD, PDA and ASD.
Eisenmenger Reaction
This term is applied to the gradual process of development
of pulmonary hypertension and pulmonary vascular disease
in all large left to right shunt lesions sooner or later, leading
ultimately to bidirectional or reversed shunt. In other words
in presence of some large left to right shunt this
Eisenmenger’s reaction prevents the natural process of
lowering the pulmonary vascular resistance after birth to
normal level, instead it helps to increase the pulmonary
vascular resistance. In some cases this pulmonary vascular
resistance develops very early in postnatal life and becomes
severe resulting in reversal of shunt.
SR Anil, M Satpathy
The terms Eisenmenger’s state, Eisenmenger’s disease,
Eisenmenger’s pathology and Eisenmenger’s physiology are
used in different clinical settings, where the fundamental
pathophysiology remains same.
CAUSES
Common causes
VSD, PDA and ASD (secundum and primum).
Less Common Causes
TGA, A-P window, complete AV canal defect, persistent
truncus arteriosus, congenitally corrected TGA with VSD,
single ventricle without PS, DORV with large VSD without
PS, Common atrium, tricuspid atresia with VSD without
PS, PAPVC and TAPVC without obstruction.
Rare Causes
Interruption of aortic arch with PDA and right pulmonary
artery arising from aorta.
INCIDENCE
Incidence is higher in young adults as compared to patient
of pediatric age groups. The mean age for development of
Eisenmenger syndrome clinically for PDA, VSD and ASD
are usually 19, 22 and 35 years respectively. The frequency
of development of Eisenmenger syndrome depends on
location of defect, its size and magnitude of shunt. Among
the common defects patients having large VSD and PDA
go to Eisenmenger physiology much earlier and more
frequently then that of large ASD. Other complex
abnormalities like AV canal defect, truncus arteriosus, d-
TGA with VSD, single ventricle without PS quite often
develop PAH with reverse shunt at early childhood (even
during infancy). In un-operated patients Eisenmenger
 340 Clinical Diagnosis of Congenital Heart Disease
syndrome develops almost 100 percent in cases of truncus
arteriosus and A-P window, in 50 percent cases of VSD
and PDA but only 10 percent cases of ASD secundum.
PHYSIOLOGICAL CHANGES AFTER BIRTH
After birth there occur evolutionary changes both in syste-
mic and pulmonary circulation. In the fetus there is minimal
pulmonary circulation, hardly 5 to 10 percent of cardiac
output passes through lungs. The systemic and pulmonary
pressures are same and pulmonary vascular resistance is
high (8-10 woods unit). It falls very rapidly after birth and
reaches adult level (1-3 woods unit) by about 6 to 8 weeks
of age. During this time there is rapid regression of medial
muscle layer of larger pulmonary arteries and arterioles.
The reasons for sudden decrease in vascular resistance
are:
1. Very onset of breathing causes expansion of lungs and
the pulmonary vessels, mainly distal vessels become
straight and expanded (does not remain coiled as in
fetus).
2. Blood flows through these arteries to the capillaries, so
these arteries are no more rigid functionless tubes;
therefore pulmonary vascular resistance decreases.
3. Increased oxygen content reflexly produces vasodila-
tation and decreases pulmonary vascular resistance.
4. The elasticity of pulmonary arteries helps for more
distensibility during passage of blood, so it reduces PVR.
Factors that are responsible for not allowing normal
decrease of the pulmonary vascular resistance, are:
a. Failure of regression of thickened muscular arteries
which are present in fetus,
b. Decrease arterial oxygen content due to any cause
and
c. Abnormal contractile response of the pulmonary
vasculature to increase flow.
PATHOLOGY
The fundamental pathological changes start from the
mechanical stretching of pulmonary vascular bed due to
constant high flow, which cause gradually progressive
structural abnormalities. Due to stretch, endothelial cells of
intimal layer are damaged. The endothelial surface of
pulmonary artery appears “cable like”. Peripheral arteries
develop muscular layer due to rapid development of
precursor cells into smooth muscles cells. The basic patho-
logy lies in the pulmonary arterioles, which are on average
30 to 100 micron in diameter and having single elastic lamina
and endothelial lining. Narrowing of lumen due to thickening
of intima and hypertrophy of media (increased muscularity
of small arterioles) leads to thrombosis and complete
obstruction giving rise to pulmonary vascular obstructive
disease (PVOD). These irreversible changes give rise to
increased pulmonary artery pressure and increased pulmo-
nary vascular resistance (PVR) and bidirectional shunt.
Genetics also play some role in pathology of Eisenmenger
syndrome. In some individual progression of Eisenmenger’s
reaction is rapid (hyper-reactor) where as in some cases
with equivalent shunt, the progression is slow (hypo-
reactor). In large left to right shunts which are located
distal to tricuspid valve like VSD, PDA, AP window (post-
tricuspid shunts), there occur direct transmission of
systemic pressure to pulmonary circulation, therefore normal
regression of fetal pulmonary vasculature is delayed and
Eisenmenger’s reaction sets in early. In contrast, shunts
located proximal to tricuspid valve like ASD, PAPVC and
TAPVC (pre-tricuspid shunt) there occur normal regression
of fetal pulmonary vasculature and so late Eisenmenger’s
reaction. Particularly in VSD and PDA the fetal pulmonary
arteriolar pattern persists (does not regress to normal as in
case of ASD), for this reason Eisenmenger’s syndrome
develops at earlier age. The pathological changes are well
described under Heath and Edward classification (it is a
qualitative classification postulated in the year 1958).
Summarizing the main vascular changes that occur in
Eisenmenger’s syndrome are:
1. Increased muscularity of small pulmonary arterioles
2. Intimal hyperplasia
3. Scarring, vessel thrombosis
4. Reduced number of intra-acinar arteries.
HEATH-EDWARD CLASSIFICATION OF
PULMONARY VASCULAR
OBSTRUCTIVE DISEASE
Grade I: Medial hypertrophy in the small pulmonary arteries.
Grade II: Cellular intimal proliferation and hyperplasia.
Grade III: Progressive intimal fibrosis with lumen occlusion
of smaller pulmonary arteries and arterioles.
Grade IV: From early generalized dilatation of the arterial
lesions (muscular arteries) to advance stage (appearance
of plexiform lesions).
 Eisenmenger Syndrome
Grade V: Thinning and fibrosis of the media. These chan-
ges are wide spread and with angiomatoid formation.
Grade VI: Necrotizing arteritis and fibrinoid necrosis.
HEMODYNAMICS
Pulmonary arterial pressure = RV output (pulmonary flow)
X Pulmonary Vascular Resistance (PVR). Therefore, PA
pressure may increase either due to increased flow
(hyperkinetic) or due to increased PVR. The pulmonary
hypertension that develops due to large left to right shunt
lesions initially belongs to hyperkinetic type. It is reversible
in early stages if the cause is eliminated. Once Eisenmenger’s
reaction develops PVR is raised. In the initial stages it is
reversible, but later on it becomes irreversible. Pulmonary
arterial hypertension exist when pulmonary artery pressure
exceed 30/18 mm Hg (mean 22). Mean pulmonary artery
pressure has to be above 25 mmHg for clinical
occurrence of Eisenmenger’s syndrome. As PVR rises
it becomes equal to or exceeds SVR giving rise to initially
bidirectional and then reverse shunt. The persistence high
pulmonary vascular resistance increases RV workload.
Initially RV compensates by hypertrophy, which leads to
decreased compliance and increased filling pressure.
Therefore RA contracts more forcefully to fill the RV. The
‘a’ wave of RA increases which is reflected in JVP. As the
pulmonary arterial pressure rises progressively RV dilates
and subsequently RV failure sets in with rise in RA mean
pressure and raised JVP. In this setting, there occurs
tricuspid regurgitation which increases the ‘v’ wave in RA
and in JVP. With RV failure cardiac output is decreased
leading to systemic hypotension (because high PVR
decreases pulmonary venous return to LA). It is to be
remembered that pulmonary hypertension begets
pulmonary hypertension (like MR begets MR). When
shunt reversal sets in, systemic arterial oxygen saturation
decreases. Systemic hypoxia produces erythrocytosis
resulting in polycythemia which increases blood viscosity.
CLINICAL FEATURES
Symptoms
Symptoms due to Eisenmenger’s syndrome in cases of
VSD, PDA, complete AV canal defect appear early even
from infancy or early childhood, but in ASD, symptoms
appear late. Symptoms like blue or dusky coloration of nails
or nail beds and palate (central cyanosis) appear indicating
341
presence of reverse shunt. Breathlessness, fatigue, reduce
exercise tolerance are common symptoms. In general PDA
is well tolerated because upper limb (including head and
neck) gets saturated blood. The typical symptoms related
to hyperviscosity (due to deep cyanosis) are myalgia,
lassitude, headache, light-headedness, visual disturbances,
sometime a funny feeling and history of bleeding tendency.
Other serious and important symptoms are chest pain
(angina like pain due to RV hypoxia) and syncopal attacks
(due to low cardiac output), repeated hemoptysis in
adulthood (due to pulmonary infarction resulting from
pulmonary thrombosis and polycythemia) and congestive
heart failure producing swelling of legs and abdomen.
Signs
On examination central cyanosis is present. Differential
cyanosis is marked in PDA (no cyanosis in upper limbs
with lower limb cyanosis). Clubbing is often present. Pulse
in later stage becomes low volume indicating low cardiac
output. There is precordial prominence, palpable pulmonary
arterial pulsation (also there may be visible pulsation), left
parasternal heave, diffuse apical impulse (RV impulse),
palpable P2, JVP shows prominent or giant ‘a’ wave and
prominent ‘v’ wave (due to TR). Left parasternal heave
due to RV hypertrophy is more prominent in ASD because
of intact interventricular septum. But in presence of VSD,
the heave is not prominent because of RV decompression.
On auscultation first heart sound is normally heard,
second heart sound is loud and single in cases of VSD,
widely split and fixed with loud P2 in ASD and closely
(physiologically) split with loud P2 in PDA. A loud pulmonary
ejection click is audible in both phases of respiration all
over precordium and S4 is often present in ASD. Short
ejection systolic murmur is audible over third and fourth
sternal border. In PDA diastolic component of the
continuous murmur disappears early as PA pressure rises.
With suprasystemic PA pressure the systolic part of the
murmur may also disappear. In some cases early diastolic
murmur due to pulmonary regurgitation (Graham-Steell
murmur) and a pansystolic murmur over left lower sternal
border due to tricuspid regurgitation (tricuspid valve ring
dilatation) are audible. Clinical differentiation of different
levels of shunt in a setting of Eisenmenger’s syndrome is
described in Table 39.1.
 342 Clinical Diagnosis of Congenital Heart Disease

TABLE 39.1: Differentiating features of different sites of shunt in case of Eisenmenger’s syndrome

PDA VSD ASD

Sex ratio (Female : Male) 2.0 3.0 1.5

Cyanosis/clubbing Differential cyanosis and Cyanosis from Appears in late adulthood

clubbing early childhood

Dyspnea/angina/syncope Uncommon Common Uncommon

JVP ‘a’ wave Rarely prominent Not seen Commonly present

Left parasternal heave Common Rare Always present

2nd heart sound Closely split Single Widely split and fixed

Murmurs Short ejection systolic murmur Not continuous murmur Short ejection systolic murmur
Not pansystolic murmur Short ejection systolic murmur

TR and PR murmurs gradually appear in all types

ECG Good LV force Present Present Absent
RVH Uncommon Less common Always present
RAE Absent Uncommon Very common

X-ray RA enlargement Rare Absent Very common

Enlarged AO Present Normal Small
Enlarged PA Moderate Moderate Very large

Echo Site and size of shunt, flow pattern is detected with evidence of PAH

Angio Simultaneous filling of PA Simultaneous filling of PA Simultaneous filling of both circulations

and descending AO and ascending AO from RV from RA

INVESTIGATIONS typically large cardiothoracic ratio exists due to right atrial

Electrocardiography
Sinus rhythm is usually present but AF is often seen in
cases of ASD. Right axis deviation, right atrial enlargement
and right ventricular hypertrophy are the main features
irrespective of site of shunt lesions. Certain ECG features
are sometimes indicative of the location of shunt. Prominent
P wave in lead II and V1 (RA enlargement), RVH with qR
pattern and T inversion in V1 and no q in V5, V6 indicate
presence of ASD (Fig. 39.1). Good LV force and q in V5,
V6 indicate PDA, single ventricle and complete AV canal
defect.
Radiography
Cardiac size remains normal or slightly enlarged in
Eisenmenger’s VSD and PDA but in Eisenmenger’s ASD
and right ventricular dilation. The radiographic hallmark
of Eisenmenger syndrome is centralization of
pulmonary vasculature, i.e. dilated MPA, RPA, LPA with
definite decrease in peripheral pulmonary vasculature
(pruned tree appearance) (Fig. 39.2). Presence of right
aortic arch indicates VSD (never ASD or PDA). Some cases
of PDA show ductal calcification. LA enlargement and
pulmonary venous hypertension are absent in setting of
Eisenmenger’s syndrome.
Echocardiography
Echocardiography is very accurate in measuring pulmonary
arterial pressure and diagnosing shunt lesions. M-mode echo
of pulmonary valve in PAH is very characteristics with
absent ‘a’ wave, reduced EF slope and mid systolic closure.
In 2-D echo RV hypertrophy, RA enlargement and dilatation
 Eisenmenger Syndrome
Fig. 39.1: ECG showing right axis deviation, right ventricular
hypertrophy with qR complexes in V1 and absent q in V6
indicate Eisenmenger’s ASD
of pulmonary arteries are evident. It helps in localizing the
site of shunt and color Doppler indicates the direction of
blood flow (Figs 39.3 and 39.4). Accurate estimation of
pulmonary arterial systolic and diastolic pressures can be
made from the velocity of TR and PR jets respectively
which are usually present. Echocardiography also helps in
assessing the RV function, which determines prognosis.
343
Figs 39.2A and C: X-ray chest of Eisenmenger syndrome
indicating (A) ASD, (B) VSD, and (C) PDA. Arrows show dilated
main and right pulmonary arteries
Cardiac Catheterization
Contrary to the common believe recently cardiac
catheterization is done frequently in cases of significant
pulmonary hypertension with shunt lesions, to study the
possibility for any scope for interventional procedure or
surgery. In pre-echo era cardiac catheterization was done
very cautiously or avoided in setting of Eisenmenger’s
 344 Clinical Diagnosis of Congenital Heart Disease

Figs 39.3A to D : Echocardiogram of VSD Eisenmenger’s complex (A) Parasternal long axis view showing large perimembranous
VSD (arrow). (B) Short axis shows a dilated pulmonary artery. (C) CW Doppler recording shows a high velocity tricuspid
regurgitation (TR) jet indicating severe pulmonary arterial hypertension. (D) M-mode tracing of pulmonary valve showing
typical pattern of pulmonary arterial hypertension (LV—left ventricle, LA—left atrium, Ao—aorta)

syndrome because of serious complications like sudden
low output state and persistent arrhythmia.
Right heart catheterization is done through femoral
approach. In ASD catheter passes from RA to LA then to
LV and ascending aorta. In case of PDA catheter passes
from RA to RV to PA then to descending aorta. In brief
cardiac catheterization is necessary: (i) to exclude
intracardiac and extra cardiac shunts, (ii) accurate
measurement of RA, RV, PA pressures and LV filling
pressure, and (iii) to determine reversibility of pulmonary
vascular changes with vasodilators like oxygen or nitrous
oxide inhalation, and in some cases intravenous adenosine
are used. Selective angiography outlines the site of reversed
shunt. The angiographic study of pulmonary artery and its
branches show sudden tapering which give a typical
angiographic picture.
DIAGNOSIS
In adolescents or adults with history of effort intolerance,
central cyanosis, clubbing and signs of severe pulmonary
hypertension with paucity of murmur (short systolic
murmur), the physician thinks of Eisenmenger’s syndrome.
The site of the shunt is ascertained from clinical
examinations, electrocardiogram, radiographic feature but
 Eisenmenger Syndrome
Fig. 39.4: Echocardiogram of ASD Eisenmenger’s syndrome,
left panel shows ASD secundum (arrow) in subcostal view,
right panel shows right to left flow across ASD. Note: Right
ventricular hypertrophy without dilatation (LA—left atrium,
RA—right atrium)
2D echocardiogram with color flow Doppler study
confirms the shunt sites. Now a days cardiac catheterization
and angiography is advised to study the feasibility of catheter
based closure of the shunt. When operability is disputed
catheter study is necessary to estimate the exact PVR and
its reversibility.
DIFFERENTIAL DIAGNOSIS
Different causes of pulmonary arterial hypertension come
under differential diagnosis.
1. Post-capillary pulmonary hypertension, which includes
pulmonary veno-occlusive diseases and mitral stenosis.
2. Precapillary pulmonary hypertension includes chronic
cor pulmonale, recurrent pulmonary thromboembolism
and persistent pulmonary hypertension of the new born.
3. Primary vasoconstrictive pulmonary hypertension
(primary pulmonary hypertension, PPH). Clinically, PPH
is confused with the diagnosis of Eisenmenger’s
syndrome and has to be differentiated (Table 39.2).
WHO in its reclassification of pulmonary artery hyper-
tension has mentioned many similarities between these
two conditions as both conditions basically belong to
pulmonary vascular obstructive disease (PVOD).
345
COMPLICATIONS
The complications are brain abscess, infective endocarditis,
repeated hemoptysis (bleeding diathesis), pulmonary
infarctions, arrhythmias and in late stage congestive heart
failure.
PROGNOSIS
The natural history and prognosis of Eisenmenger’s
syndrome is grave. In one end by early diagnosis and closure
of shunt before irreversible PVOD, the patient becomes
almost normal, whereas if closure of shunt is delayed the
irreversible pulmonary vascular disease progresses even
after surgical repair and the prognosis remains very poor.
Mean age of death for VSD and PDA is about 33 years and
for ASD 46 years. The down hill course is punctuated by
repeated hemoptysis besides arrhythmias and congestive
heart failure in all these lesions. Pregnancy carries very
high risk and maternal mortality rate is about 27 percent as
compared to 4.2 percent in case TOF. Death occurs due to
circulatory collapse during delivery or puerperium.
GUIDELINES OF MANAGEMENT
Not much can be done with fully evolved Eisenmenger’s
syndrome. It is only early closure of large left to right shunts,
which can prevent Eisenmenger’s syndrome to develop.
The general advise for patient of Eisenmenger’s
syndrome are:
1. to avoid strenuous physical exertion so that chest pain
or syncopal attack are to be avoided.
2. not to stay at higher altitude.
3. in case of female patients pregnancy to be avoided and
these patients are advised for surgical sterilization.
Pregnancy particularly postpartum period is dangerous
because sudden circulatory collapse may occur.
4. nonsteroidal anti-inflammatory agents should be avoided
as far as possible because of bleeding diathesis.
Phlebotomy is advised in severe hypoxia due to
polycythemia but repeated phlebotomy may induce anemia
leading to CHF, for which adequate iron supplementation
is necessary. Low dose oxygen supplementation at frequent
interval is necessary in children having Eisenmenger’s
syndrome in order to prevent polycythemia. In
346 Clinical Diagnosis of Congenital Heart Disease

TABLE 39.2: Differentiating points between PPH and Eisenmenger’s syndrome

Primary pulmonary hypertension (PPH) Eisenmenger’s syndrome (ES)

(Secondary pre-capillary pulmonary hypertension)
Definition PPH is characterized by progressive irreversible It is also defined as progressive irreversible vascular
pulmonary vascular changes without definite etiological changes but is caused by increased pulmonary flow
factor. secondary to intracardiac or extracardiac shunt lesions.

Age groups It usually occurs in young adults rarely in pediatric age. It occurs at any age groups (infancy to adulthood).

Sex distribution Females predominate with ratio 3:1. No sex predilection depends on individual intracardiac
lesions.

Pathogenesis Cause is unknown. Endothelial dysfunction, High pulmonary blood flow is the trigger for
autoimmunity, role of viruses (HIV), Hypoxia pathogenesis of pulmonary vascular disease.
and drugs like Aminorex fumarate, oral contraceptive,
crotalaria have been postulated.

Pathology Quantitative classification of types A, B and C of
pulmonary vascular disease is more important for PPH.
The disease process is gradually progressive.
Pathological lesion in pulmonary arterioles is indistin-
guishable from Eisenmenger’s syndrome. The plexiform
lesions are derived from single cell line (monoclonal).
Reversibility is unusual.
Qualitative classification, Heath Edward classification
is conventionally referred.
Progression varies, some
cases have early and rapid progression, whereas in
some cases occurs late.
Pathology is same as PPH but
the plexiform lesions are polyclonal. Up to grade III
of Heath and Edward classification is reversible.

Clinical mani- Less common, appears at late stage Frequently seen, appear early.
festations cyanosis
and clubbing
Syncope and Common Less common
dizziness
Hemoptysis Uncommon Common

Second heart sound Loud (P2), closely split or sometimes single. P2 Loud, may be single in VSD may be widely split in
ASD or may be closely and physiologically split in
PDA.

Ejection click (EC) Loud EC in majority of cases. Uncommon. Only may be found in ASD
Eisenmenger’s.

Fourth heart Often present (due to presystolic distension of RV) Uncommon. may be found in ASD and
sound (S4) over lower sternal border, increased with inspiration. PDA Eisenmenger’s.

Murmur Usually no pulmonary murmur or a short ejection systolic Murmurs in pulmonary area are more commonly
murmur (due to ejection into dilated PA) is present. audible.

ECG RVH with monophasic ‘R’ or qR in V1. RVH with incomplete RBBB particularly in ASD
Eisenmenger’s

X-ray No cardiomegaly. Cardiomegaly may be present.

Echo Evidence of severe PAH without any shunt except Evidence of PAH with intracardiac or extra-cardiac
sometimes a stretched foramen ovale. No other shunt.
attributable cause for PAH.
 Eisenmenger Syndrome
Eisenmenger’s syndrome with CHF (RV failure) besides
low salt diet, digoxin, diuretic are used cautiously (because
RV is highly preload dependant), otherwise low cardiac
output state may be precipitated. Vasodilator therapy has
some place in management of Eisenmenger’s syndrome.
High dose of calcium channel blockers (Nifedipine and
Diltiazem) is used, besides tolazoline, nitroprousside and
corticosteroid. In some selected cases low dose intravenous
prostacycline and continuous nitric oxide inhalation is
advised. Although role of chronic anticoagulation therapy
has not been established, still it is advised in some cases in
order to prevent pulmonary embolism and infarction.
Note: For anginal pain in setting of Eisenmenger’s syndrome
nitroglycerin is to be avoided as it worsens the situation.
In some patients with intact atrial septum, to increase
mixing and increase cardiac output (to increase oxygen
saturation) blade balloon atrial septostomy is advised. Heart
lung or only lung transplantation is now advised in very
advanced cases of Eisenmenger’s syndrome, that too in
very selected centers.
Recently endothelin inhibitor (Bosentan, non selective
endothelin inhibitor), elastase inhibitor, sildenafil and its
analog tadalafil and gene therapy (cell based gene transfer)
347
are under trial in Eisenmenger’s syndrome as because they
have proven their efficacy in primary pulmonary hyper-
tension.
SALIENT FEATURES
1. Large left to right shunt when persist for a long period
give rise to pulmonary artery hypertension and
pulmonary vascular disease (PVD).
2. The histopathological classification of PVD is known
as Heath and Edward classification. The clinical
implication is up to grade III changes, it is reversible. If
the lesion is not corrected the histopathological changes
progresses further up to Grade VI and it is not reversible
3. Onset of PVD is late in pre-tricuspid shunt lesions (ASD
and PAPVC) but the changes occur early in post-
tricuspid shunts (VSD, PDA, AVSD, APW).
4. Pulmonary arterial pressure when becomes equal or
exceeds systemic level bidirectional shunt or right to
left shunt occur which subsequently give rise to
Eisenmenger’s syndrome.
5. With onset of PVD clinical features of large left to right
shunt gradually disappear and at the same time
features of pulmonary arterial hypertension appear.
6. Early correction of lesion is advised to prevent
pulmonary vascular disease. Otherwise there is no
specific management if the patients develop
Eisenmenger’s syndrome.
40 Fetal Echocardiography
INTRODUCTION
Role of cardiac ultrasound has expanded manifolds in the
last two decades. The development of high resolution
echocardiographic and the Doppler ultrasound system has
enabled to understand the anatomy and physiology of fetal
heart that gave the unique opportunity for diagnosis of
cardiac disease in utero. Role of fetal echocardiography
(fetal echo) in the diagnosis of congenital heart disease
(CHD) has been validated by postnatal and autopsy corre-
lation. Use of this technique in screening of mothers, whose
fetuses were at a high risk of having CHD as well as to
screen all mothers for major forms of congenital heart
disease, has been explored.
ECHOCARDIOGRAPHIC ANATOMY AND
PHYSIOLOGY OF FETUS
All the cardiac connections are complete with two atria,
two ventricles, septa, valves and great arteries by the first
trimester of pregnancy. Echocardiographic identification
of cardiac structures and great vessels is possible by 18
weeks of gestation. By use of high resolution imaging
equipments, cardiac anatomy can be identified as early as
14 weeks. A 5.0-7.0 MHz transducer is generally used for
fetal cardiac imaging except in late pregnancy, maternal
obesity and polyhydramnios where a lower frequency
transducer (2.5-3.0 MHz) may be used. 2-D, M-mode and
Doppler interrogation with color flow mapping is essential
for a complete examination.
The gross anatomical structures identified by fetal echo
are on the right side; the inferior vena cava (IVC) and
superior vena cava (SVC) can be seen to drain to right
atrium (RA), which connects to right ventricle (RV) through
tricuspid valve. The pulmonary artery identified by its
bifurcation can then be seen arising from the RV. On the
HN Mishra, BR Mishra
left side, the pulmonary veins are seen entering the left atrium
(LA) from behind. Interatrial septum has the foramen ovale.
The LA connects to the left ventricle (LV) through the mitral
valve, which then gives rise to the aorta identified by the
arch and its brachiocephalic branches. Both aorta and
pulmonary artery cross each other in a spiral manner. Ductus
arteriosus is seen as a continuation from pulmonary artery
to descending aorta (ductal arch). In fetus, all the valves
are competent.
The fetal circulation differs from postnatal circulation
in that the ventricular outputs are in parallel rather than in
series, collapsed lungs are bypassed; nutrition and waste
removal is from the placenta by means of umbilical arteries
and vein. Relatively oxygenated blood from ductus venosus
(bypassing the liver) goes to IVC and RA which then enters
LA through the foramen ovale to be supplied to upper part
of body. Majority of RV output enter the descending aorta
from pulmonary artery through the ductus arteriosus. Only
a fraction enters the lungs. The RV is the dominant ventricle.
Indications for Fetal Echo
Fetal echo is generally done under the following circum-
stances.
i. When the risk of congenital heart diseases in the fetus
is high.
ii. When the 4-chamber view or the fetal cardiac rhythm
is found to be abnormal by the obstetrician during
prenatal ultrasonography.
iii. Routine evaluations in every fetus, as major CHDs are
often found in otherwise low risk pregnant women.
Risk Factors for Fetal Cardiac Anomalies
1. Maternal CHD.
2. Sibling with CHD.
 352 Clinical Diagnosis of Congenital Heart Disease
3. Maternal diabetes.
4. Maternal connective tissue disorder like SLE or
maternal Phenylketonuria.
5. Maternal exposure to teratogens (drugs and infection)
like lithium, anticonvulsants, prednisone, warfarin,
ACE inhibitors, infection with rubella virus or alcohol
abuse.
6. Isoimmunization of mother (Rh sensitization).
7. History of repeated miscarriages.
8. Fetal genetic or somatic abnormalities (noncardiac
congenital defects).
9. Non-immune hydrops fetalis (fluid in more than one
body cavity of the fetus).
10. Elderly mothers (more than 35 years of age).
Optimal time for Fetal Echo
The most ideal time for fetal echo is between 16 to 20
weeks of gestational age, although it may be done from 14
weeks to term.
Procedure of Fetal Echo
Before imaging the heart other fetal organs should be
identified, the head, rump, spine should be located first;
followed by the liver and stomach so that left and right side
of the fetus and visceral situs can be determined. Routine
steps of segmental analysis as done in postnatal period are
difficult in fetus due to its movement. Sometimes movement
of fetus facilitates better visualization by allowing different
planes of interrogation. Aorta is seen anterior and left to the
spine, IVC remains right to the spine. The posterior chamber
close to the spine is left atrium and the anterior chamber
behind the sternum is the right ventricle.
The 4-chamber view of the fetal heart is the most vital
window. It allows identification of major congenital
anomalies. In fetus, a large liver displaces the apex above.
Therefore, the 4-chamber view is obtained from a horizontal
plane in a transverse section through the fetal thorax.
The area of the heart is normally less than 1/3rd of the
area of the chest. In 4-chamber view (Fig. 40.1) first of all
the atria are identified which are of equal size. The foramen
ovale is seen in the middle of interatrial septum as a bulge
or a flap protruding to LA that also helps in identification of
LA. In this view, pulmonary valves are also seen entering
LA. Next, both atrioventricular valves (AV valves) are
identified by their position and papillary muscle connection.
Fig. 40.1: Fetal echo showing 4-chamber view, Arrow pointing
to the spine. Annotations are made outside the respective
chambers (LA—left atrium, RA—right atrium, RV—right
ventricle, LV—left ventricle)
Tricuspid valve is placed more apically and has septal
connection of papillary muscle. Subsequently both ventricles
are examined. RV connects to a tricuspid valve which is
identified by the coarse trabeculations and the echogenic
moderator band. LV is smooth walled and elliptical. Both
ventricles are of equal size, although RV may be little bigger
than LV.
Anterior angulation of transducer from the 4-chamber
view enables to view the left ventricular outflow tract
(LVOT), aortic valve and proximal aorta. Aorto-mitral
continuity can be seen from this view. Further anterior
rotation of the transducer images the right ventricular
outflow tract (RVOT), pulmonary valve and proximal
pulmonary artery (Fig. 40.2). Pulmonary artery is slightly
bigger than aorta in the ratio of approximately 1.2 to 1.
Rotation of transducer to approximately 900 from outflow
tract view images the cross section of ventricles. Orientation
of sector towards the base with angulation can image the
ductus, the arch of aorta and brachiocephalic branches.
The ductus continues with descending aorta (ductal arch).
The true aortic arch, which is more superiorly placed, is to
be differentiated from the ductal arch.
Color Doppler interrogation during examination helps
in identifying visceral structures, shunts, and valvular
regurgitation. Pulsed Doppler helps to know the pattern of
flow at a particular point of interest. Obstructive lesions
are identified by turbulent flow and high velocity spectrum
by conventional Doppler.
 Fetal Echocardiography
Fig. 40.2: Fetal echo showing short axis view
(PL—placenta, Ao—aorta, PA—pulmonary artery)
During the examination, fetal heart rate and rhythm are
assessed. Arrhythmia and complete heart block are easy to
identify. M-mode recording gives a better assessment of
cardiac rhythm. Additionally M-mode is used for measuring
cardiac dimensions and functions. Dimensions of heart
according to gestational age and biparietal diameter are also
established.
Presence of ascites, pleural or pericardial effusion
indicates hydrops fetalis.
Major Anomalies Diagnosed by Fetal Echo
CHD commonly seen during postnatal life are difficult to
diagnose during fetal echo such as small perimembranous
VSDs, bicuspid aortic valve, mild stenosis of aortic or
pulmonary valves and post-ductal coarctation of aorta. As
foramen ovale and ductus arteriosus are part of fetal
circulation, ASD of foramen ovale (secundum) type
and PDA cannot be diagnosed prenatally.
A segmental and sequential approach to viscero-atrial
situs, veno-atrial connection, both atria, atrioventricular
connection, AV valves, both ventricles, interventricular
septum, ventriculo-arterial connection, semilunar valves,
great arteries, aortic arch, ductal arch and descending aorta
are to be diagnose which exclude major forms of CHDs.
Atrial situs is determined by the position of descending
aorta and IVC in respect to the spine at the level of
diaphragm. In situs solitus IVC remains on right and
descending aorta to the left of spine. In situs inversus, the
opposite is seen. In right atrial isomerism, both IVC and
descending aorta are together either to left or to the right.
353
In left atrial isomerism, IVC is interrupted with azygous
vein continuation behind the aorta. Identification of cardiac
base to apex axis identifies the position of the heart whether
there is dextrocardia or levocardia. Pulmonary veins are
also identified entering LA. Failure to see any pulmonary
vein entering LA and at the same time communication of
pulmonary veins to a common chamber behind the LA gives
the diagnosis of total anomalous pulmonary venous
communication (TAPVC).
Atrioventricular connection may be discordant where
RA connects to a morphologic LV and LA connects to a
morphologic RV, the connection may be univentricular
(double inlet or a single AV valve connects to a single ventricle
of RV or LV morphology), single atrioventricular inlet may
be due to atresia of either AV valve (tricuspid atresia or
mitral atresia). Atrioventricular septal defect (complete AV
canal anomaly) is also readily identified by a common AV
valve, an inlet type of VSD and a defect in the lower part of
atrial septum. Ebstein’s anomaly of tricuspid valve is
identified by significant apical displacement of tricuspid valve
forming an atrialized portion of RV.
Ventriculo-arterial connection may also be discordant
producing complete transposition of great arteries, Aorta
arising from RV and pulmonary artery from LV. Both aorta
and pulmonary artery may arise from one ventricle producing
double outlet RV or LV (DORV/DOLV). Complex anomalies
of great arteries are often associated with malalignment type
of large VSD (septum encroaches upon one of the outflow
tracts). Single outlet to ventricles may be a due to atresia of
either aortic or pulmonary valve (pulmonary atresia, aortic
atresia). Persistent truncus arteriosus produces single outlet
to both ventricles by the way of a large overriding VSD
and gives origin to pulmonary arteries. TOF is diagnosed
by a large malalignment type of VSD (encroaching RVOT),
large aorta and hypoplastic pulmonary arteries. RV
hypertrophy is not appreciable in fetal heart as normal fetal
RV and LV wall thickness are equal.
Obstruction to RV output as in severe PS or pulmonary
atresia with intact septum increases flow through the
foramen ovale, right ventricle becomes hypoplastic, but left
atrium and left ventricle are enlarged. Similarly, obstruction
to LV outflow as seen in severe AS or aortic atresia or
coarctation of aorta produces hypoplasia of LA and LV
and enlargement of RA and RV. The hypoplastic left heart
syndrome (HLHS), a serious postnatal CHD combining
variably aortic atresia, mitral atresia and hypoplasia of LV
 354 Clinical Diagnosis of Congenital Heart Disease
is also identified. When there is retrograde flow in the aortic
arch, it indicates duct dependant systemic flow.
Note: Disproportion of ventricular size indirectly predicts
outflow obstruction. Dilatation of either ventricle predicts
obstruction to contralateral ventricular outflow.
Hypoplasia of transverse aortic arch is a clue to the
presence of coarctation of aorta. Complete interruption of
aortic arch can also be diagnosed prenatally.
Other than CHD, fetal heart diseases like cardio-
myopathy and cardiac tumour can also be diagnosed by
fetal echo. Cardiomyopathy is diagnosed by dilated and
hypokinetic ventricles and tumors are seen as echogenic
mass or multiple masses along the atrial or ventricular
septum.
Prostaglandin inhibitors used to prevent premature labor
may produce intrauterine closure of the ductus which is
diagnosed by a narrow ductus with increased flow velocity
or by complete absence of flow through the duct. Premature
ductal closure produces RA and RV dilatation, tricuspid
regurgitation and heart failure causing hydrops fetalis.
DIAGNOSIS OF FETAL ARRHYTHMIA
As an EGG of fetal heart is impossible to obtain, fetal echo
holds the key for diagnosis of fetal arrhythmia. Arrhythmia
is diagnosed mainly by observing the timing, sequence and
frequency of contraction of the atrium and ventricle by
observing ventricular septal, free wall and AV valve motion
in M-mode tracing (Fig. 40.3). Pulsed Doppler recording
of ventricular inflow, simultaneous recording of ventricular
inflow and outflow by placing the sample volume
appropriately helps in identifying sequence of atrial and
ventricular contraction. By this method common fetal
arrhythmia like supraventricular tachycardia and complete
heart block can be diagnosed.
Heart rate of less than 100/min generally indicates brady-
cardia, where as a rate of more than 220/min is taken as
tachycardia.
Irregularity due to supraventricular ectopics and small
spells of slow heart rate is common. Sustained arrhythmia
particularly when associated with structural heart disease
or hydrops fetalis is clinically significant. Bradycardia due
to fetal distress and due to heart block are to be differentiated
because, bradycardia due to complete heart block is
relatively benign whereas fetal distress carries grave
prognosis.
Fig. 40.3: Fetal echo showing M-mode tracing (left panel) of
the mitral valve in sinus rhythm
SALIENT FEATURES
1. Fetal echo is generally done when risk of CHD is high
in the fetus. However in some centers it has become a
routine procedure.
2. Ideal time for fetal echo is between 16 – 20 weeks of
gestational age.
3. In normal fetus, aorta is seen anterior and left to the
spine, IVC remains right to the spine. The posterior
chamber close to the spine is left atrium and the anterior
chamber behind the sternum is the right ventricle.
4. The 4-chamber view of the fetal heart is the most vital
window. It allows identification of major congenital
anomalies.
5. It is important to image both left and right ventricular
outflow tracts, semilunar valves and proximal portions
of great arteries.
6. Ductus arteriosus continues with descending aorta
(ductal arch). The true aortic arch, which is more
superiorly placed, is to be differentiated from the ductal
arch.
7. Doppler interrogation helps in identifying shunts,
valvular regurgitations and assessing obstructive
lesions.
8. Arrhythmia and heart block are easy to identify. M-mode
recording gives a better assessment of cardiac rhythm.
9. Complex cardiac anomalies when detected prenatally,
in addition to appropriate counselling and advice to
parents, necessary steps are to be taken to deal with
the anticipated situation.
10. Fetal echocardiography has given rise to the concept
of fetal cardiac interventions which may open a new
era.
 41 Transcatheter Interventions in
Congenital Heart Diseases
INTRODUCTION
Management of congenital heart defects was considered
primarily a surgical domain till some 20-years-ago. The
last two decades have witnessed an explosion in catheter-
based therapeutics. Interventional cardiology has replaced
surgery for number of defects. In addition, it provides an
additional and complementary treatment to surgery in many
conditions. Invention of stents to keep the dilated vessels
open and development of occlusive devices for closing
cardiac defects further expanded the role of pediatric
interventional cardiologists.
Pediatric cardiac interventions can be broadly classified
into two groups: Dilatations of abnormally closed vessel or
stenosed valves and occlusions of abnormally open channels
and defects. There is a third arm of interventions called
interventional electrophysiology that deals with pacemaker
implantations of bradyarrhythmias and radio-frequency
ablations of tachyarrhythmias.
HISTORY
The first transcatheter treatment for congenital heart diseases
was performed by Rashkind and Miller in 1966. They
introduced balloon atrial septostomy to improve the
saturation in children with transposition of great arteries.
Nonsurgical closure of ASD was attempted by King and
Mills in 1976. Rashkind and Cuaso performed the first
successful closure of PDA in 1977 through catheter. Kan
et al pioneered the present technology of balloon dilatation
by dilating the pulmonary valve in 1982. Lababidi reported
aortic valve balloon dilatation in 1984.
INTERVENTIONS INVOLVING DILATATIONS
1. Valvuloplasties:
a. Balloon pulmonary valvuloplasty
BRJ Kannan
b. Balloon aortic valvuloplasty
c. Balloon mitral valvuloplasty.
2. Dilatation of vascular obstructions:
a. Coarctation of aorta
b. Branch pulmonary artery stenosis
c. Postoperative obstructed systemic and pulmonary
venous baffles
d. Obstructed right ventricle to pulmonary artery
conduits.
3. Dilatation or creation of atrial septal defect:
a. Balloon atrial septostomy.
INTERVENTIONS INVOLVING OCCLUSIONS
1. Closure of patent ductus arteriosus (PDA) with coils or
device.
2. Closure of atrial septal defect (ASD) with device.
3. Closure of ventricular septal defect (VSD) with device.
4. Occlusion of anomalous vascular channels that include
major aorto pulmonary collaterals, pulmonary
arteriovenous malformations, coronary arteriovenous
fistulae, systemic veno-venous collaterals and occlusion
of Blallock-Taussig shunt prior to definite surgery.
5. Occlusion of fenestrations in the Fontan circuit.
GENERAL PRINCIPLES OF
TRANSCATHETER INTERVENTIONS
Procedures Involving Dilatations
A peripheral vessel, usually femoral artery or vein, is
cannulated and a catheter is advanced into the chamber or
vessel of interest (Fig. 41.1). Angiography is performed to
visualize the site of obstruction. A wire is taken through
the catheter and is passed through the stenosed segment of
the vessel or valve. Keeping the wire in place, the catheter
is removed and an appropriate sized balloon catheter is
 356 Clinical Diagnosis of Congenital Heart Disease

introduced. The balloon is straddled across the lesion so
that the middle portion of the balloon is at the stenotic site.
The balloon is inflated with a diluted contrast. Usually a
waist is seen forming at the stenotic site. Inflation is
continued till this waist disappears. Thereafter, the balloon
is deflated and taken out. This procedure results in splitting
of fused commissures of the stenosed valves. In the
stenosed vessels, it causes intimal and medial tears that
would heal in open position. Repeat angiography is
performed to assess the result of dilatation. If there is recoil
of the vessel, i.e. if the vessel does not stay open, a metallic
stent is taken over a balloon catheter to the obstructed site.
The stent remain in a collapsed state on the outer aspect of
the uninflated balloon. When the balloon is inflated again, it
not only dilates the obstructed site but also expands the
stent. Subsequently, when the balloon is deflated and
withdrawn, the expanded stent stays open lining the
endothelium of the vessel and hence preventing the recoiling
of the vessel.
As foreign bodies are introduced into the vascular
system, thrombus formation and embolic phenomena can
occur. To prevent this complication, generally heparin is
administered at the start of the procedure. Oversized balloon
can result in valve tear or valve avulsion that could
permanently damage the valve mechanism resulting in
various degrees of regurgitation. Hence, the diameter of
the balloon should never exceed the annulus of the valve
except in vulvar pulmonary stenosis where a balloon size

Figs 41.1A to D: Schematic diagram showing steps in pulmonary valve balloon dilatation: (A) catheter is placed at pulmonary
valve, (B) wire passed across the valve, (C) keeping wire in place catheter is removed, (D) balloon catheter passed over the
wire, balloon placed across the valve and inflated
 Transcatheter Interventions in Congenital Heart Diseases
of 120-140 percent of annulus size may be used. Damage
to the adjacent structures and normal vessel can occur.
Procedures Involving Closures
The wire is passed across the defect that has to be closed.
Over this wire, another suitable catheter or a long sheath is
introduced to position across the defect and the wire is
removed. The materials used for occlusion are metallic coils
or devices those are taken through the catheter or sheath
and deployed across the defect. After confirming the
stability of the coil or device, the sheath is removed leaving
behind the coil/device occluding the defect.
If the coil or device were not properly deployed, it would
dislodge from its position and get embolized to some other
location. This could occlude a major vessel and could be
life threatening. Though transcatheter retrieval systems are
available, emergency surgery is at times needed to remove
the embolized material and close the cardiac defect.
VALVULAR PULMONARY STENOSIS
Balloon pulmonary valvuloplasty (BPV) is the treatment of
choice for isolated valvular pulmonary stenosis (PS). The
initial evaluation is done by echocardiography. The degree
of stenosis is graded based on the peak Doppler gradients
across the valve. A gradient of < 50 mmHg is regarded as
mild, 50-80 mmHg as moderate and > 80 mmHg is
considered to be severe. If there is significant right
ventricular hypertrophy, one would except moderate to
severe PS. Pulmonary annulus size has to be noted. The
steps of BPV are shown in Figure 41.1. Presence of a small
pulmonary annulus and subvalvular obstruction predicts
sub optimal result. While a thin mobile doming valve gives
a good result, thick dysplastic valves as seen commonly in
Noonan syndrome might be disappointing. The immediate
success rate is nearly 98 percent. The residual gradient is
at subvalvular level in the majority due to the hypertrophy
of RV infundibulum. At follow up, most of them show
regression of subvalvular gradient, though a small
percentage would necessitate surgical relief of the
subvalvular obstruction. Recurrence of stenosis is rare.
Complications
• Various degrees of pulmonary regurgitation is common
after BPV.
357
• Inadvertent perforation of myocardium especially at right
ventricular outflow tract may occur.
• Rarely, oversized balloon can cause rupture of the
pulmonary trunk.
Neonates can present with severe valvular pulmonary
stenosis with compromised cardiac output, termed as critical
PS. The patent foramen ovale can have shunt right to left
and these children can present with cyanosis. BPV is
performed in the same manner but it is technically more
challenging. In the most extreme form, the commissures
of the pulmonary valve can be totally fused and these
children present with pulmonary atresia.
VALVULAR AORTIC STENOSIS
Bicuspid aortic valve is the commonest cause of isolated
valvular aortic stenosis in children. Neonates can present
with unicuspid valves while older children and adolescents/
adults can develop aortic stenosis due to both congenital
and rheumatic etiology. There are two approaches for balloon
aortic valvotomy.
Retrograde Approach
This is the commonest approach. From the femoral artery,
a wire is passed into the ascending aorta. The stenotic aortic
valve is crossed retrogradely and the wire is positioned in
the left ventricle. An appropriate sized balloon is taken and
inflated across the valve. The diameter of the balloon should
not be more than the measured aortic annulus. Valvotomy
is considered successful if the pressure gradient falls by
more than 50 percent of pre-dilatation values.
Antegrade Approach
When femoral arterial access could not be obtained or if
the arteries are too small to accommodate the catheters,
antegrade approach is taken. From the femoral vein, the
wire is passed into the RA. Through the patent foramen
ovale, the wire is passed into the LA and then to LV. The
aortic valve is crossed antegradely from LV and the wire is
positioned in the descending aorta. Subsequently, the balloon
is tracked over the wire and valvotomy is done.
Complications
Aortic regurgitation, especially if the balloon size is more
than that of the aortic annulus is a common complication.
 358 Clinical Diagnosis of Congenital Heart Disease

Mitral apparatus injury can occur in the antegrade approach.

Inadvertent perforation of aortic cusps or myocardium may
occur. Loss of femoral pulse is found in some cases after
valvotomy.

COARCTATION OF AORTA
The usual site of obstruction is at the post subclavian
segment. Native coarctation can present in neonatal period,
infancy or in older children. Balloon dilatation has high
Fig. 41.2: Balloon dilatation of coarctation of aorta, left panel
recurrence rate if performed in neonatal period and infancy.
shows coarct segment (Co) in aortogram, right panel shows
Hence surgical correction is preferred during this period. considerable widening after dilatation
In older children, surgery and transcatheter dilatation are
supposed to give equally good results. In re-coarctation, interruption is done only for large ducts in small infants
where the obstruction has recurred following a successful weighing < 3 kg. PDA can be occluded from the venous or
initial surgical correction, balloon dilatation is preferred. arterial end. Generally, venous end is preferred. Currently
The difference in the systolic blood pressure between two materials are used to occlude the PDA, either stainless
the right upper limb and lower limb represents the degree steel coils (Gianturco coils) or a device (Amplatzer duct
of obstruction at the coarctation. This is called ‘clinical occluder) is used.
pressure gradient’ which if > 20 mmHg, indicates for Indications for closure: all moderate to large ducts will
intervention. Presence of significant systolic hypertension cause hemodynamically significant shunt and need to be
in the upper limb or left ventricular hypertrophy by closed. Small ducts generally do not result in significant
echocardiography also indicates significant obstruction. shunt. Those with a continuous murmur, though small,
Femoral artery approach is commonly preferred. A wire carry the risk of developing infective endarteritis and hence
is passed across the site of coarctation and placed in the need closure. Those ducts that have only short systolic
arch of aorta. Over this wire, a catheter is tracked and murmur, or those ducts that are incidentally detected during
angiogram is done. The site and length of the narrowing is echocardiography need not be closed.
noted. The segment of the aorta just beyond the left
subclavian artery is called isthmus. The balloon size should Coil Closure of PDA
not exceed the maximum size of the isthmus measured.
Coils of various length and diameters are available.
After dilatation, gradients are measured and angiogram is
Angiogram is done in the lateral view to assess the PDA
performed again. A residual gradient of < 10 mmHg is consi-
and the size of the narrowest point is noted. The diameter
dered to be the optimal result (Fig. 41.2).
of the coil chosen should be at least twice the size of the
Complications
Loss of femoral pulse and dissection of aorta may occur.
Small flap of dissection is common at the dilated site, which
heals normally. Occasionally, large dissections can occur
and can extend into the descending aorta or subclavian
artery.
Aneurysm of aorta is a late complication seen in 3-
30 percent cases.

PATENT DUCTUS ARTERIOSUS

Fig. 41.3: Coil closure of patent ductus arteriosus (PDA), left
Transcatheter occlusion is the treatment of choice for patent panel shows aortogram showing a PDA, right panel shows
ductus arteriosus (PDA) (Fig. 41.3). Currently, surgical complete closure by coil
 Transcatheter Interventions in Congenital Heart Diseases
narrowest point of the ductus. When the size of the PDA
is ≥ 2.5 mm, coil closure can be done safely. For larger
ductus, generally device closure is preferred. However,
with the availability of thicker coils and with the technique
of simultaneous delivery of multiple coils, even larger ducts,
up to 7 mm can be closed with coils. Immediate complete
occlusion is seen in 88 to 90 percent cases and at 24 hours
after the procedure, 95 percent show complete occlusion.
Complications
Embolization: The coil may get embolized inadvertently
into the pulmonary artery or aorta, if there is error in the
assessment of the duct size or coil selection.
Usage of large coils in small infants can result in
protrusion of coils into the origin of left pulmonary artery
causing obstruction.
Hemolysis: This is seen in those patients who have
significant residual flow. It may resolve spontaneously or
may need additional coil deployment.
Device Closure of PDA
The Rashkind PDA device was initially introduced for
transcatheter closure of the ducts. However, currently
Amplatzer duct occluder (ADO) is used because of its
simple design and high success rate. It is made of nitinol
(nickel-titanium alloy) wire mesh with polyester fabric inside.
It has 2 components: aortic disc and the ductal component.
It can be stretched and taken into the delivery sheath.
Because of its supermemory property, it assumes its original
shape when deployed. ADO is available in various sizes
and can be used to close PDAs as large as 12 mm in size.
The occlusion rate is nearly 100 percent by 3 months.
However, this device is not ideal for infants weighing <
5 kg in whom it can protrude too much into the aorta
causing obstruction to the aortic flow.
ATRIAL SEPTAL DEFECT
Atrial septal defect (ASD) is classified based on its location:
Sinus venosus type, ostium primum type and ostium
secundum type. Only ostium secundum type of the defect
is amenable for device closure. Defects with a significant
left to right shunt of >1.5:1 associated with volume overload
of right atrium and right ventricle need to be closed. Presence
of adequate rim of tissue, at least 5 mm, around the defect
359
is a prerequisite for successful device closure. Various
devices have been tried since 1976. They were associated
with low success rate, higher complications and were not
suitable for larger defects. Currently, the most commonly
used device is Amplatzer septal occluder (ASO). This device
is also made of nitinol and is self centering in nature when
deployed. There are two rounded discs with a connecting
waist. The diameter of the waist corresponds to the size of
the defect. Successful deployment results in one disc on
either side of the inter atrial septum with the waist occluding
the defect. It is available in sizes of 4 to 40 mm, the size
referring to the waist component of the device. The left
atrial disc is large by 10 to 14 mm and the right atrial disc is
larger by 8 to 10 mm. Defects as large as 30 to 34 mm can
be closed using ASO.
Complications
Embolization of the device: Improper selection of the case
or device would result in migration of the device into left
atrium or right atrium. If not retrievable by transcatheter
methods, these patients are subjected to emergency surgery.
Perforation of cardiac chambers is a rare complication
generally seen when a large sized device is used.
Thromboembolic phenomena can occur in some of
these patients. Hence, aspirin in advised for 6 months after
the procedure. In selected older patients with large devices,
oral anticoagulation is indicated.
Patent Foramen Ovale
Paradoxical embolism (right to left shunt) across the patent
foramen ovale (PFO) is implicated as the cause of recurrent
stroke in some patients especially in those who are younger,
less than 55 years. PFO closure is indicated when other
causes are ruled out and right to left shunt across the PFO
is documented by contrast echocardiography. Separate PFO
occluders are available in the Amplatzer family of devices.
VENTRICULAR SEPTAL DEFECT
Ventricular septal defects (VSD) can be classified as
perimembranous, subpulmonic, inlet and muscular VSD
depending on their location. Of these, subpulmonic and inlet
VSDs can be closed only by surgery. Children with large
perimembranous defects are generally symptomatic in the
infancy and require early surgical correction. Those children
 360 Clinical Diagnosis of Congenital Heart Disease
with partially closed or small perimembranous VSD are
generally asymptomatic and do not require closure. These
defects carry a small risk of infective endocarditis. Amplatzer
perimembranous VSD occluder has been developed and is
currently undergoing clinical trials. Muscular VSD has high
incidence of spontaneous closure or reduction in size when
followed up. Hence, older children generally have hemo-
dynamically insignificant defect and do not warrant closure.
Transcatheter device closure can be done for moderate
sized muscular VSD using Amplatzer muscular VSD device.
CREATION OF DEFECT:
BALLOON ATRIAL SEPTOSTOMY
Balloon atrial septostomy (BAS) was first introduced as a
palliative measure for children with transposition of great
arteries (TGA) with restrictive interatrial communication.
Because of the parallel nature of the systemic and pulmonary
circulations, systemic oxygenation depends on adequate
mixing of the oxygenated and unoxygenated blood.
Rashkind septostomy catheter or Nu Med septostomy
catheter are commonly used for this procedure. The catheter
is introduced from the venous side either from femoral
vein or from umbilical vein. Through the PFO, it is passed
into the left atrium. The balloon at the tip of the catheter is
inflated with 2 to 3 ml volume of diluted contrast agent.
The inflated balloon is forcibly brought into the right atrium
which results in tearing of inter atrial septum. When the
procedure is successful, echocardiography shows the torn
flap of the septum, adequate mixing of blood between the
two atria with the improvement in the systemic saturation
to more than 75 percent. BAS is also performed to increase
the size of inter atrial communication in patients with
tricuspid atresia, mitral atresia and total anomalous pulmonary
venous drainage.
UNCOMMONLY PERFORMED
AND NEWER INTERVENTIONS
Several infrequent and innovative procedures have been
reported. They are closure of ruptured sinus of Valsalva
aneurysm, perforation of atretic tricuspid/pulmonary valves
by radio-frequency ablation, use of stents to maintain ductal
patency in duct dependent lesions, relief of obstruction in
TAPVC, nonsurgical staged Fontan procedure and in
preparing for a future definitive surgery. Percutaneous repair
and replacement of cardiac valves have been tried with
encouraging results.
In conclusion interventional procedures have made
remarkable stride in recent years. Advances in catheter
based hard wares, devices, stents and balloons made this
field much wider. With extreme safety, favorable immediate
and long-term results this field have expanded to replace
many procedures where surgery was the only answer.
Because of these safe and effective procedures the outlook
particularly for sick infants having congenital heart disease
is brighter today and therefore preferred over surgical
corrections.
 42 Congenital Heart Disease in India
INTRODUCTION
Congenital heart disease (CHD), in a definition proposed
by Mitchell et al is “a gross structural abnormality of the
heart or intrathoracic great vessels that is actually or poten-
tially of functional significance”. They as a group constitute
a significant proportion (up to 25% in some studies) of
congenital malformations that present in neonatal life. With
improvements in the standards of human development and
health care infrastructure, preventable causes of neonatal
and infant mortality like perinatal asphyxia, infections and
diarrheal diseases have significantly declined, especially in
developed countries. Recent studies from developing
countries like India have shown decline in the prevalence
of rheumatic fever and rheumatic heart disease, at least in
certain geographic locations. Congenital malformations and
in particular congenital heart diseases are likely to become
important contributors to infant mortality in near future.
Hence, it is important to determine the exact prevalence
and case burden of congenital heart disease so that
appropriate changes in health policies can be recommended.
In this chapter, the following issues relating to
congenital heart disease in India are discussed.
• The magnitude of the problem—Global and India.
• Types of CHD at birth and survival patterns.
• CHD as a contributor to infant mortality: Global and
Indian perspectives.
• Resources for CHD treatment in India and shortcomings
in the Indian health care environment.
• Present national policy for CHD treatment and sugges-
tions for improvement.
PREVALENCE OF CONGENITAL
HEART DISEASE (CHD)
Incidence of CHD is defined as the number of new cases
born with CHD related to the total number of birth in a
Balu Vaidyanathan
defined population during a specified period of time (over
period of one year). Hospital admission incidence rate may
not reflect true incidence rate.
Prevalence refers specifically to all cases (new and old)
existing at a given point of time or over a period of time in
a given population. In other words it is the number of all
individuals who have disease at a particular period divided
by population at risk of having the disease at this point of
time.
Several studies on the prevalence of congenital heart
disease have been reported from the developed countries.
This includes very large registries like the Baltimore-
Washington Infant Study and New England Regional Infant
Cardiac program. In all these studies, the prevalence of
CHD was expressed as a fraction of 1000 live births in the
same population. The prevalence of CHD reported in most
of the earlier studies was remarkably constant at about 4 to
5 per 1000 live births. More recent studies, after 1985,
have reported higher incidences of 12 to 14 per 1000 live
births. This higher prevalence in recent studies is attributed
to the increased use of echocardiography for evaluation of
suspected CHD in the newborn leading to increased pickup
of minor forms of CHD. The results of these studies have
shown that the prevalence of CHD is constant across various
geographic and ethnic backgrounds except for very minor
exceptions.
Prevalence and Fate of
Different types of CHD Detected at Birth
Depending upon the severity, CHD presenting at birth can
be categorized into 3 groups: severe, moderate and mild
categories (Fig. 42.1).
• Severe CHD includes all cyanotic lesions as well as
certain acyanotic lesions like large VSD, large PDA,
critical AS, critical PS, critical coarctation, and AVSD
that require intervention early in life.
 362 Clinical Diagnosis of Congenital Heart Disease

conditions like small VSD, PDA, ASD, Mild AS or PS.

The prevalence of various types of CHD at birth is given
in Table 42.1.
The prevalence of the severe and moderate types of
CHDs has not changed significantly, being around 2.5 to 3
per 1000 live births respectively.

CHD AS A CONTRIBUTOR OF NEONATAL AND

INFANT MORTALITY—GLOBAL PERSPECTIVE

On a global perspective, about 7 percent of all neonatal

Fig. 42.1: Prevalence of CHD at birth—comparison of
population-based surveys vs Intensive hospital based studies
• Moderate CHD are those that require expert care, but
less intensive compared to severe CHD. Examples
include mild to Moderate AS or PS, noncritical
coarctation, large ASD.
• Mild CHD are those that are asymptomatic and often
undergo spontaneous resolution. This includes
TABLE 42.1: Prevalence of various types of CHD at birth (number per 1000 live births)
deaths are attributable to major congenital malformations
of which at least 25 percent are due to severe forms of
CHD. With decline in mortality due to preventable causes
like sepsis, the contribution of major congenital malfor-
mations will be much higher (> 25%). Patients born with
severe forms of CHD are at approximately 12 times higher
risk of mortality in the first year of life, particularly if they
are missed in the neonatal period.

Lesion Median Lower quartile Upper quartile

Ventricular septal defect 2.829 1.757 4.482

Patent ductus arteriosus 0.56 0.324 0.782
Atrial septal defect 0.564 0.372 1.059
Atrioventricular septal defect 0.34 0.24 0.396
Pulmonic stenosis 0.532 0.35 0.835
Aortic stenosis 0.256 0.16 0.39
Coarctation of aorta 0.356 0.29 0.49
Tetralogy of fallot 0.356 0.29 0.58
D transposition of great arteries 0.3 0.23 0.39
Hypoplastic right heart 0.16 0.1 0.22
Tricuspid atresia 0.09 0.02 0.1
Ebstein’s anomaly 0.04 0.04 0.16
Pulmonary atresia 0.08 0.07 0.15
Hypoplastic left heart syndrome 0.22 0.15 0.28
Truncus arteriosus 0.09 0.06 0.14
Double outlet right ventricle 0.13 0.08 0.25
Single ventricle 0.08 0.05 0.14
Total anomalous pulmonary venous connection 0.09 0.06 0.12
All cyanotic 0.127 0.1 0.15
All CHD 7.7 6 10.5
Bicuspid aortic valve 9.2 5.3 13.8
 Congenital Heart Disease in India 363

PREVALENCE OF CHD—INDIAN SCENARIO
The situation in India is vastly different from those prevailing
in developed countries. It is difficult to estimate the actual
case burden of CHD in India since systemic population
based surveys for detection of CHD has not been reported
form India. Khalil et al in a hospital-based study reported a
CHD prevalence of 3.9 per 1000 live births with PDA and
VSD being the commonest lesions. Population based studies
done in school children reported a CHD prevalence of
approximately 4 per 1000. Population based surveys in older
children will not give a true picture of CHD prevalence
because many children with severe forms of CHD would
have undergone attrition in early life.
Based on prevalence of CHD at birth from previous
studies, approximately 130,000 to 270,000 infants with CHD
are added to the total pool every year in India. Another
37,000 cases are diagnosed during childhood. About 25
percent (around 50 to 80,000) of these patients will require
intervention in infancy. Every year, about 121,000 children
with CHD reach the age of 15 years. Of these, 425 extra
cases of CHD per 100,000 live births every year will require
adult follow-up. At present, 24 percent of all admissions in
a typical tertiary care cardiology center in India are
constituted by CHD (third most common after CAD and
RHD).
Studies on prevalence of CHD in India are summarized
in Table 42.2.
The prevalence of CHD in India on population-based
study has not been carried out. Information based on some
school survey are available. Similarly hospital based incidence
of CHD are available from some centers. Familial incidence
and higher incidence of CHD in offspring of consanguineous
marriage are also reported from certain institutions. The
incidences of CHD in India from two centers (CMC, Vellore
and AIIMS, New Delhi) are given in Table 42.3 along with
one of the series from western country.

TABLE 42.2: Indian studies on prevalence of CHD

Author Hospital/community Total patients studied Age group No: of CHD/1000 population studied

Gupta et al 1992 Community 10,263 6-16 years 0.8

Khalil et al 1994 Hospital 10,964 Live births 3.9
Thakur et al 1995 Community 15,080 5-16 years 2.25
Chadha et al 2001 Community 11,833 < 15 years 4.2

TABLE 42.3: Incidence of major congenital cardiac lesions

Congenital anomaly Vellore (1970) % AIIMS (1976) % PAULWOOD %

1. Ventricular septal defect 19.2 27.13 12.0

2. Tetralogy of Fallot 16.68 17.00 9.5
3. Atrial septal defect 20.67 13.40 23.5
4. Patent ductus arteriosus 9.38 11.20 9
5. Aortic stenosis 2.82 6.80 9.5
6. Pulmonic stenosis 13.08 2.80 15.5 (all types)
7. Transposition of great arteries 3.01 2.15 1
8. Tricuspid atresia 1.04 2.07 0.8
9. Coarctation of aorta 1.87 2.07 10
10. Total anomalous pulmonary venous connection 2.08 0.74 0.5
11. Ebstein’s anomaly 0.32 0.50 __
12. Pulmonary arterial hypertension __ 3.20
13. Dextrocardia, levocardia 1.52 1.48 Rare
14. Ruptured sinus of valsalva 0.20 __ __
15. Coronary arteriovenous fistula 0.12 __ __
16. Anomalous left coronary from pulmonary artery 0.07 __ Rare
 364 Clinical Diagnosis of Congenital Heart Disease
CHD AS A CONTRIBUTOR TO INFANT
MORTALITY—INDIAN SCENARIO
Extrapolating statistics from Western Countries, it is
estimated that 3 to 10 percent of infant mortality in India
can be attributed to CHD. No studies reported on outcomes
of CHD detected at birth from India or other developing
countries. The mortality and morbidity due to CHD is likely
to be much higher in India compared to the developed
countries due to lack of infrastructure for managing these
patients (discussed later). Within India, considerable varia-
tions exist in the standards of living, literacy and availability
of health care facilities. Certain states in India like Kerala
where deaths due to preventable causes like infections have
declined considerably and congenital malformations have
become significant contributors to infant and neonatal
mortality. In the All India Institute of Medical Sciences
(AIIMS) database, congenital malformations accounted for
up to 32.5 percent of neonatal mortality.
CURRENT STATUS OF
CHD TREATMENT IN INDIA
The current state of CHD management in India is similar to
the typical situation found in the developing countries.
Logistic and infra-structural hurdles exist in every step.
Due to lack of proper diagnostic facilities pediatricians and
physicians of most part of the country are not familiar with
the presentation of severe CHD at birth or early infancy,
hence, only a small fraction of the CHD at birth is detected.
Most centers do not have facilities for echocardiography,
especially in rural India and hence diagnosis is not confirmed,
even if it is suspected. This leads to significant delay in
referral to a tertiary center that has the capability to manage
these sick patients.
The problem is compounded by the fact that very limited
facilities exist in the country for imparting high quality
pediatric cardiac care. At present, about 14 institutions
support an infrastructure for neonatal and infant heart
surgery in India. In most of these centers, the pediatric
cardiology services are just “piggyback” onto a bust adult
cardiology program.
The shortcomings of Pediatric Cardiac services in India
are summarized in Table 42.4.
Because of these above-mentioned shortcomings only
about 1.6 percent are receiving treatment for CHD. The
remainder is either undiagnosed or untreated and a vast
majority of these will undergo attrition in the first year of
life itself. This will include several patients who can be
potentially cured by treatment. The actual impact of CHD
on infant mortality in India is likely to be higher since there
is no data about what happens to the affected patients on
follow-up.
SUGGESTED ACTION PLAN FOR CHD
MANAGEMENT IN INDIA
Obtaining Accurate Information on CHD
Prevalence and Mortality
This can be accomplished by a survey of all live births in a
well-defined population for prevalence in CHD. The birth
cohort needs to be followed up for at least one year to pick
up cases missed at birth. The requirements of such an ideal
study are given in Table 42.5. Such a study can be under-
taken by a tertiary care pediatric cardiology programmed
with the back up of a national body/government.
Educating Pediatricians and Primary Health
Care Staff about CHD
Pediatric cardiology training needs to be incorporated in all
pediatrics postgraduate training programs. Pediatricians
should be educated regarding the clinical signs of CHD in
the newborn. Since clinical evaluation for CHD in the
newborn is very insensitive, routine use of pulse oximetry
(for measuring arterial saturation) to screen for CHD in the
newborn should be encouraged. Perhaps, creation of a
clinical screening system incorporating pulse oximetry in
the newborn will enable easy and early recognition of CHD
by pediatricians.
Creation of a National Policy for CHD
Management
The absence of a national policy perhaps reflects the
prevailing attitudes about CHD is that, it is quite uncommon
and it is mostly fatal and therefore not worth the effort and
expense. Demonstration of significant improvement in the
natural history in a sizable proportion of children with CHD
thorough treatment is required to bring about changes in
existing attitudes. For this purpose, tertiary centers practicing
pediatric cardiology services in India should come out with
 Congenital Heart Disease in India 365

TABLE 42.4: Shortcomings in pediatric cardiac services in India

Requirements Shortcomings in India Reasons

Detection of CHD Only a tiny fraction of CHD detected at birth Limited access to health care. Adequate supervision
and during infancy by a pediatrician is available for only a small
proportion of births and subsequent care
Limited ability of most pediatricians to detect heart
disease because of limited exposure of pediatricians
to pediatric cardiology during their postgraduate
training

Diagnosis Inaccurate diagnosis in a sizable proportion Very limited specialized pediatric

echocardiography expertise

Referral Delayed referral of many infants and children Limited knowledge of natural history of CHD
resulting in delayed referral
Lack of awareness about the developments in the
specialty
Lack of awareness about what is available within
the country

Treatment Small proportion of referred infants and newborns Few institutions with good standards of care.
actually receive definitive treatment for CHD Care too expensive for most people.

Prevention Very few termination of pregnancies because of Very limited fetal echocardiography expertise.
diagnosis of CHD Very few centers with infrastructure for chromoso-
Very few families adequately counseled mal analysis and genetic studies

Health care planning No national policy for CHD treatment No data on CHD prevalence at birth very little
information on CHD prevalence later in life
No information on proportional mortality from
CHD
(Courtesy: Krishna Kumar R, Congenital Heart disease in India. Course Supplement of the 2nd annual conference of the pediatric cardiology
society of India 2000; pp 3-6)

TABLE 42.5: Estimation of prevalence of congenital heart
disease among live born infants: Requirements of an ideal
study
1. A well-defined birth cohort.
2. All deliveries should be medically supervised, ideally in a
hospital.
3. All the hospitals in the area should be included.
5. A well-defined clinical protocol for screening CHD among
newborns.
6. Complete referral of all suspected newborns with CHD to a
pediatric cardiology facility.
7. Remaining newborns of the birth cohort should be followed
up at specified intervals and referred whenever CHD is
suspected.
8. A reliable echocardiogram for confirmation of CHD.
9. A postmortem facility for all infants or newborns dying
without a clearly specified cause.
data about the impact of CHD treatment on immediate as
well as long term outcomes, particularly on issues like
mortality, nutrition and neurodevelopment.
Role of Fetal Echocardiography
Routine cardiac scanning as a part of the obstetric scan
has become a common practice in all developed countries.
In India some tertiary cardiac centers have started fetal
echocardiographic examination during antenatal check ups.
This has lead to the early detection of many complex CHD
in early or mid gestation. This will give the family an option
of therapeutic abortion in the event a complex, difficult to
treat and poor prognosis CHD is detected. This option
perhaps may be preferable in the setting of a developing
country with limited resources than continuing with the
pregnancy and opting for complex multi-staged surgical
 366 Clinical Diagnosis of Congenital Heart Disease
procedures after the birth of the baby. Hence, it is
increasingly important to train obstetricians in the country
about antenatal cardiac scanning and to set up more fetal
echocardiography referral setups for confirming the
diagnosis. Ideally, all tertiary level pediatric cardiology
centers should have a fetal echocardiography unit as well.
CONCLUSION
Pediatric cardiology is a developing specialty, especially in
developing countries like India. The magnitude of the
problem is considerable and is often understated and
underestimated. No clear data regarding the morbidity due
to undiagnosed and untreated CHD in infants, children and
adults are available. CHD in adults is also immerging as
another cardiovascular problem in our society. With
advances in care of children and decline in preventable
mortality, CHD is likely to assume increasing importance
in near future. Hence, there is an urgent need to improve
pediatric cardiac care infrastructure enabling early diag-
nosis, prompt referral and subsequently adequate care for
the children with significant CHD. The encouraging results
of treatment for most forms of CHD from developed
countries should prompt more clinicians to take up the
challenge of managing these complex problems and also
the Government to establish national policy for management
of congenital heart diseases.
 Index
A anomalous connection of IVC to left coronary sinus type 89
atrium 329 echocardiography 89
Aberrant innominate artery 196 management 90
IVC interruption with azygos
Aberrant left pulmonary artery 197 diagnosis 80
continuation 328
Aberrant right subclavian artery 193
left superior vena cava draining into differential diagnosis 80
Absence of one pulmonary artery 197 guideline for management 81
left atrium 327
Absent pulmonary valve syndrome 268 hemodynamics 75
total anomalous systemic venous
abnormal anatomy 268
connection 330 investigations 78
associated lesion 268 angiography 80
Aortic arch anomalies 192
clinical features 268 cardiac catheterization 80
classifications 192
diagnosis 269
clinical features 193 echocardiography 79
differential diagnosis 269 electrocardiography 78
investigations 193
embryology 268 radiography 78
anomalies of pulmonary artery 197
investigations 268
cervical aortic arch 197 natural history 81
angiocardiography 269 primum type 83
double aortic arch 196
catheterization 269 angiography 85
left aortic arch 193
echocardiography 269
rare aortic arch anomalies 197 cardiac catheterization 85
electrocardiography 268 complications 86
right aortic arch 194
radiography 269 diagnosis 85
laterality of aortic arch 192
management 269
management 198 different diagnosis 85
natural history 269 echocardiography 84
Aortic arch interruption 40
Acyanotic heart diseases 38, 40 Aortic left ventricular tunnel 158 electrocardiography 84
Acyanotic lesions 20 Aortic regurgitation 156 medical management 86
Adherons 8 abnormal anatomy 156 natural course 86
Adult circulation 13 clinical features 157 radiography 84
Angiocardiography 57 diagnosis 157 signs 84
Anomalous left coronary artery 187 differential diagnosis 158 symptoms 84
anatomical abnormalities 187 etiology 156 sinus venous type 87
clinical features 188 hemodynamics 156 clinical picture 87
complications 191 investigations 157 echocardiography 87
diagnosis 190 management 158 electrocardiography 87
differential diagnosis 190 Aorto–pulmonary window 121, 124 guidelines for management 88
embryology 187 anatomical abnormalities 124 inferior defect 87
hemodynamics 187 classification 125 radiography 87
investigations 188 clinical features 125 superior defect 87
angiocardiography 189 common anomalies associated 125 types 75
cardiac catheterization 189 complications 128 Atrial septum 131
echocardiography 188 diagnosis 127 Atrioventricular (AV) connections 291
electrocardiography 188 hemodynamics 125 Atrioventricular discordance 50
nuclear myocardial perfusion imaging investigations 125 Atrioventricular junction 130
189 angiocardiography 126 Atrioventricular septal defect 39, 129
radiography 189 cardiac catheterization 126 associated anomalies 133
management 191 echocardiography 126 clinical features 135
natural history 191 electrocardiography 125 complications 140
Anomalous systemic venous connections 325 radiography 126 diagnosis 139
classification 325 management 128 differential diagnosis 140
clinical features 326 natural history 128 investigations 136
embryology 325 Arterial pulse 16 cardiac catheterization 138
persistent left superior vena cava 326 Asplenia 47 echocardiography 137
hemodynamics 326 Atrial septal defect 74, 82, 359 electrocardiography 136
investigations 326 classification 74 peripheral smear 136
anomalies of coronary sinus 329 clinical features 76 radiography 136
anomalies of ductus venosus 330 signs 77 ultrasonography abdomen 136
anomalies of the valve of the sinus symptoms 76 management 141
venosus 330 complications 81 natural history 140
 368 Clinical Diagnosis of Congenital Heart Disease

pathology 130 cardiac catheterization 167 cardiac catheterization 308

physiology 134 echocardiography 166 echocardiography 308
Rastelli Classification 133 electrocardiography 165 electrocardiography 307
AV valves 130 magnetic resonance imaging 167 radiography 307
radiography 165 management 311
B prognosis 168 modes of death 310
types 161 natural history 310
Balloon atrial septostomy 360
Common atrium 227 pathophysiology 304
Bat wing appearance 57
abnormal anatomy 227 physical examination 307
Bedside approach 24
clinical features 228 physiology 306
Blood pressure 16
diagnosis 229 Concordant loop 49
Boot-shaped heart (Coeur en sabot) 264
differential diagnosis 229 Conduction defects 292
Bradycardia 27
embryology 227 Conduction system 133
Bulbo-ventricular foramen 292
hemodynamics 227 Congenital aortic stenosis 40, 143
investigations 228 Congenital AV block 223
C angiography 229 Congenital heart disease 25, 361
Cap of Zinn 119 cardiac catheterization 229 acyanotic 25
Cardiac catheterization 55 echocardiography 229 cyanotic 26
Cardiac malpositions 45 electrocardiography 228 neonatal and infant mortality 362
embryology 45 radiography 228 prevalence 361
relation of embryologic loop 49 management 229 different types of CHD detected at
relationship of great arteries 51 Complete interruption of aortic arch 335 birth 361
segmental approach 51 associated lesions 336 prevalence of CHD—Indian scenario 363
situs 46 classification 335 Congenital mitral regurgitation 67
ambiguous 47 clinical features 336 abnormal anatomy 67
inversus 46 diagnosis 337 clinical features 67
inversus dextrocardia 48 differential diagnosis 338 diagnosis 68
inversus levocardia 49 embryology 335 differential diagnosis 69
position of the heart 47 hemodynamics 336 guideline for management 69
solitus 46 investigations 337 investigations 67
solitus dextrocardia 48 management 338 cardiac catheterization 68
solitus levocardia 48 Complete transposition of pulmonary veins echocardiography 68
Cardiac position 33 317 electrocardiography 67
Cardiomegaly 34 abnormal anatomy 318 magnetic resonance imaging 68
Cardiovascular development 3 associated anomalies 318 radiography 68
aorta 9 classification 317 Congenital mitral stenosis 53
aortic and pulmonary trunks 8 clinical features 319 Congenital pulmonary arteriovenous (AV)
AV valves 8 complications 323 fistulas 331
looping 4 diagnosis 323 clinical features 332
primitive heart tube 3 differential diagnosis 323 complication 334
septation of the atria 5 embryology 317 diagnosis 334
wedging 5 hemodynamics 318 differential diagnosis 334
Cardiovascular system 18 investigations 320 embryology 331
Carvallo’s sign 78 cardiac catheterization 322 hemodynamics 332
Circular shunt 251 echocardiography 321 investigation 333
Coarctation of aorta 40, 150, 160, 358 electrocardiography 320 management 334
classification 161 MRI 322 pathology 331
clinical features 163 radiography 320 Congenital pulmonary vein stenosis 58
collaterals in coarctation 163 selective pulmonary vein/artery Congenitally corrected transposition of great
signs 164 angiography 323 arteries 218
symptoms 164 management 323 abnormal anatomy 219
common associations 162 medical 323 associated defects 219
complications 168 surgical 324 clinical features 220
diagnosis 167 natural history 323 complications 223
differential diagnosis 168 Complete transposition of the great arteries diagnosis 222
embryology 160 304 differential diagnosis 222
guideline of management 168 associated lesions 305 embryology 218
catheter intervention 168 clinical features 306 investigations 220
medical management 168 diagnosis 309 angiography 222
surgical management 169 differential diagnosis 310 catheterization 222
hemodynamics 162 embryology 304 echocardiography 221
investigations 165 investigations 307 electrocardiography 220
angiography 167 angiography 308 radiography 220

management 223
natural history 223
pathophysiology 218
Congestive heart failure 23, 307
Cor triatriatum 56
Coronary arterial fistula 182
anatomical abnormalities 183
clinical features 183
complications 186
diagnosis 184
differential diagnosis 186
embryology 183
hemodynamic abnormality 183
investigations 184
management 186
natural history 186
Coronary arteries 178
anatomy 178
anomalies associated 180
classification 180
embryology 178
physiology 180
Coronary arteries 292, 305
Coronary arteriovenous fistula 176
Coronary AV fistula 121
Coronary sinus 181
Critical aortic stenosis 149
clinical features 150
differential diagnosis 150
investigations 150
pathology 150
Cyanosis 21
cardiac causes 22
cyanotic spells 23
differential 22
duct dependent lesions 22, 23
Cyanotic heart disease 39, 41
Cyanotic lesions 20
Cyanotic spell 260
D Eisenmenger’s syndrome 339
Dependent shunt 25
Dextrocardia 47, 48
Dextroversion 48
Diagnosis of fetal arrhythmia 354
Double chambered right ventricle 206
associated cardiac lesions 206
management 207
natural history 206
Double discordance 50
Double orifice mitral valve 54
Double outlet right ventricle 280
abnormal anatomy 280
classification 281
clinical features 282
embryology 280
hemodynamics 282
Ductus ampulla or ductus “bump” 116
Dysplastic pulmonary valve 205
Index 369
E neonatal ECG 30
P wave 28
Ebstein’s anomaly 240 PR interval 29
abnormal anatomy 240 premature infant 30
associated anomalies 241
Q waves 29
conduction tissue 241 QRS complex 29
right atrium 240 QRS duration 30
right ventricle 240
QT interval 30
tricuspid valve leaflets 240 ST segment 30
classification 241 T wave 30
clinical features 242
radiological algorithm 32
signs 243 Endocardial fibroelastosis 71, 150
symptoms 242 classification 71
complications 246
clinical features 72
diagnosis 246 complication 73
differential diagnosis 246 diagnosis 72
embryology 240
differential diagnosis 73
hemodynamics 241 etiology 71
abnormal tricuspid valve 241 guidelines for management 73
abnormality of conduction pathways 242
hemodynamics 72
atrialised right ventricle 241 investigations 72
inadequacy of pumping portion of right pathology 71
ventricle 242
prognosis 73
left ventricular dysfunction 242
presence of interatrial communication
F
242
Fetal circulation 11, 13
investigations 243
angiocardiography 245 Fetal echocardiography 351
echocardiographic anatomy 351
angiography 245
indications 351
cardiac catheterization 245
echocardiography 244 major anomalies diagnosed 353
physiology of fetus 351
electrocardiogram 243
procedure 352
electrophysiology 246
radiography 244 Flow theory 160
Foramen ovale 74
left sided Ebstein’s anomaly 247
Functional pulmonary atresia 200
management 247
natural history 246
Echocardiography 55, 57
G
Ectopia cordis 48 Gasul’s phenomenon 106
Eddies sounds 118 Gibson’s murmur 117, 118
Eisenmenger reaction 339 Great artery connections 291
Eisenmenger’s complex 103, 339
H
causes 339 Heart rate 27
clinical features 341 Hemitruncus 298
complications 345 Hemodynamics 54, 56
diagnosis 344 Himalayan P 243
differential diagnosis 345 Holmes heart 292
differentiating points 346 Hypoplastic left heart syndrome 312
Health-Edward classification 340 abnormal anatomy 312
hemodynamics 341 clinical features 314
investigations 342 coronaries in HLHS 313
cardiac catheterization 343 diagnosis 315
echocardiography 342 differential diagnosis 316
electrocardiography 342 embryology 312
radiography 342 hemodynamics 314
management 345 investigations 314
pathology 340 angiography 315
physiological changes after birth 340 cardiac catheterization 315
Electrocardiogram 27 echocardiography 314
how to read 27 electrocardiography 314
electrical axis deviation 28 radiography 314
 370 Clinical Diagnosis of Congenital Heart Disease

management 316 classification 61 cardiac catheterization 120

natural history 316 clinical features 61 echocardiography 119
noncardiac anomalies 312 dynamic auscultation 62 electrocardiography 119
Hypoplastic right heart syndrome 249 signs 62 magnetic resonance imaging 120
symptoms 61 radiography 119
I complications 65 lesions associated with ductus 122
diagnosis 65 management 122
Idiopathic dilatation of pulmonary trunk 212
differential diagnosis 65 mechanism of ductal closure 116
aetiology 212
guidelines for management 65 Patent ductus arteriosus 39, 175, 358
clinical features 212
hemodynamics 61 coil closure 358
diagnosis 213
investigations 63 device closure 359
differential diagnosis 213
angiography 64 Patent foramen ovale 359
management 213
cardiac catheterization 64 Pentalogy of Fallot 263
Infantile arterial calcification 181
echocardiography 63 Peripheral pulmonary stenosis 214
Infundibular pulmonary stenosis 206
electrocardiography 63 classification 214
Intact interventricular septum 180
radiography 63 clinical features 215
MVP syndrome 63 complication 216
J Monology of Fallot 263 diagnosis 216
Jugular venous pressure 17 Murmur 19 embryology 214
continuous 20 hemodynamics 215
K diastolic 20 investigations 215
innocent 20 angiocardiography 216
Kartagener’s syndrome 49
systolic 20 cardiac catheterization 216
Katz Watchtel phenomenon 103
echocardiography 215
Kawasaki disease 181
N electrocardiography 215
magnetic resonance imaging 216
L Neonatal circulation 13
radiography 215
Non-restrictive VSD 285
Left ventricular outflow tract 133 spiral CT 216
associated anomalies 288
Left ventricular outflow tract obstruction 305 management 216
clinical features 285
Levocardia 47, 49 pathology 214
complications 288
Looping 4 Pink tetralogy 263
diagnosis 287
Lutembacher’s syndrome 91 Polysplenia 47
differential diagnosis 287
clinical features 91 Primitive heart tube 3
investigations 286
diagnosis 93 Pseudo coarctation 161
management 288
differential diagnosis 93 Pseudo-truncus 263
natural history 288
hemodynamics 91 Pulmonary atresia 180
investigation 92 Pulmonary atresia with intact ventricular 249
management 93 O anatomical abnormalities 250
signs 92 Obligatory shunt 25 classification 250
symptoms 92 Bull and de Leval 250
LV to RA communication 113 Greenwold 250
clinical features 113 P Milliken 251
diagnosis 114 Parachute mitral valve 54 clinical features 252
differential diagnosis 114 Partial anomalous pulmonary venous complications 255
hemodynamics 113 connection 80, 94 diagnosis 254
investigations 113 anatomical types 94 differential diagnosis 255
cardiac catheterization 114 clinical features 95 embryology 249
echocardiography 114 complications 97 hemodynamics 251
electrocardiography 113 diagnosis 96 investigation 252
radiography 114 differential diagnosis 96 angiocardiography 254
management 114 hemodynamics 95 cardiac catheterization 253
management 97 catheterization findings 254
M Patent ductus arteriosus 115 echocardiography 253
abnormal anatomy 116 electrocardiography 252
Malposition of great arteries 51 clinical features 117 radiography 252
Maternal infections during pregnancy 15 large PDA 118 management 255
Mesocardia 47 premature infants 118 natural history 255
Microcardia 35 small PDA 117 pathophysiology 251
Mirror image branching 194 complications 121 Pulmonary atresia with ventricular septal
Mitral arcade 54 differential diagnosis 121 defect 273
Mitral inflow obstructions 40 hemodynamics 116 abnormal anatomy 274
Mitral valve prolapse 60 investigation 119 classification 274
abnormal anatomy 61 angiography 120 clinical features 275
 Index 371

complications 278 S diagnosis 155

diagnosis 277 differential diagnosis 155
differential diagnosis 277 Sail sound 243 investigations 154
embryology 273 Sandergard’s coarctation 200 angiocardiography 154
Scimitar sign 95
investigations 275 cardiac catheterization 154
angiocardiography 276 Scimitar syndrome 94 echocardiography 154
cardiac catheterization 276 Selective chamber enlargement 35 management 155
aortic 37
echocardiography 276 pathology 153
electrocardiography 275 left atrial 35 types 153
magnetic resonance imaging 276 left ventricular 36 Supra-valvular aortic stenosis 151
pulmonary arterial 37
radiography 276 anatomical types 151
management 278 right atrial 36 associated lesions 153
natural history 278 right ventricular 36 clinical features 151
Septum formation 7
pathophysiology 275 diagnosis 152
Pulmonary blood flow 38 Shone’s complex 56 investigations 152
Pulmonary edema 41 Shone’s syndrome 162 pathology 151
Single ventricle 290
Pulmonary hypertension 41, 223 Supravalvular mitral membrane 55
Pulmonary regurgitation 208 anatomical abnormalities/classification Supravalvular mitral ring 55
abnormal anatomy 208 291 Suzmann’s sign 165
Van Praagh’s 292
aetiology 208
clinical features 292
clinical presentation 209 T
complications 210 complications 295
diagnosis 295 Tachycardia 27
diagnosis 210
differential diagnosis 295 Taussig-Bing anomaly 284
differential diagnosis 210
embryology 291 clinical features 284
hemodynamics 209
hemodynamics 292 diagnosis 285
investigations 209
investigations 293 differential diagnosis 285
management 210
cardiac catheterization 295 investigations 284
natural history 210
echocardiography 294 Tetralogy of Fallot 257, 282
Pulmonary stenosis 199
electrocardiography 293 abnormal anatomy 258
abnormal anatomy 199
MRI/MR angiography 295 coronary arterial anomaly 259
classification 200
radiography 293 overriding of aorta 258
anatomical 200
management 296 right ventricular hypertrophy 259
hemodynamic 201
natural history 296 RVOT obstruction 258
embryology 199
Sinus of valsalva aneurysm 170 ventricular septal defect 258
etiology 199
aetiology 171 clinical features 260
hemodynamics 201
classification 171 signs 261
Pulmonary stenosis with interatrial septal
clinical features 172 symptoms 260
defect 270
complications 176 diagnosis 266, 283
clinical features 270
diagnosis 175 differential diagnosis 266
diagnosis 272
differential diagnosis 175 embryology 258
differential diagnosis 272
embryology 170 genetic factor 257
hemodynamics 270
hemodynamics 172 hemodynamics 259
investigations 271
investigations 173 investigations 263, 282
angiocardiography 272
angiography 175 angiography 265
cardiac catheterization 272
cardiac catheterization 175 cardiac catheterization 283
echocardiography 272
Doppler and colour flow study 174 catheterization 265
electrocardiography 271
echocardiography 174 echocardiography 264, 283
radiography 271
electrocardiography 173 electrocardiography 263, 282
management 272
radiography 173 radiography 263, 283
management 176 management 267
R natural history 267
natural history 176
Respiratory distress in newborns 16 pathology 172 Transcatheter interventions 355
Respiratory infection 15 sites of rupture 172 general principles 355
Retro-esophageal diverticulum of Kommerell Situs solitus 33, 46 procedures involving closures 357
195 Skodaic theory 160 procedures involving dilatations 355
Reverse 3 sign 166 Splitting 19 Transposition of great arteries 39, 50, 51
Rheumatic mitral stenosis 81 Squatting 261 Tree in winter 323
Rhythm 27 Staghorn sign 57 Tricuspid atresia 230
Roger’s disease 101 Sub-valvular aortic stenosis 153 classification 230
Rupture of sinus of valsalva aneurysm 121 clinical features 153 clinical manifestations 233
 372 Clinical Diagnosis of Congenital Heart Disease

complications 237 V spontaneous closure 102

diagnosis 236 symptoms 101
differential diagnosis 236 Valvular aortic stenosis 143, 357 complications 106
embryology 230 abnormal anatomy 143 diagnosis 105
associated lesions 144
hemodynamics 232 differential diagnosis 105
investigations 234 clinical features 145 hemodynamics 100
angiography 235 complications 149 large VSD 101
diagnosis 149
cardiac catheterization 235 moderate VSD 100
echocardiography 235 differential diagnosis 149 small VSD 100
electrocardiography 234 hemodynamics 144 investigations 102
investigations 146
MRI 236 angiocardiography 104
radiography 235 angiocardiography 148 cardiac catheterization 104
management 238 cardiac catheterization 148 echocardiography 103
echocardiography 147
natural history 237 electrocardiography 102
pathology 231 electrocardiography 146 magnetic resonance imaging 104
Triology of Fallot 263 radiography 147 radiography 103
valvular 143
Truncus arteriosus 39, 51, 181, 297 management 106
classification 297 Valvular pulmonary stenosis 81, 201, 357 clinical features 108
Collet and Edwards 297 clinical features 201 complications 110
critical 202
physiological 298 diagnosis 109
Van Praagh 298 mild 202 hemodynamics 108
clinical features 299 moderate 202 investigations 109
severe 202
complications 302 management 110
diagnosis 302 complications 205 medical 106
differential diagnosis 302 diagnosis 204 surgical 107
differential diagnosis 204
embryology 297 VSD with aortic regurgitation 108
etiology 297 investigations 202 VSD with pulmonary stenosis 111
hemodynamics 299 angiocardiography 203 abnormal anatomy 111
cardiac catheterization 203
investigations 300 clinical features 111
cardiac catheterization 301 echocardiography 203 diagnosis 112
echocardiography 300 electrocardiography 202 differential diagnosis 112
radiography 203
radiography 300 investigations 111
management 302 Vascular ring 40 management 112
medical 302 Vascular ring malformations 192 Ventricular septum 131
Vascular sling 197
surgical 303 Ventriculo-arterial discordance 50
natural history 302 Venous hum 121 Visceral heterotaxy 47
pathology 298 Ventricular hypertrophy 31 Viscero-atrial concordance 46
Ventricular septal defect 39, 98, 305, 359
abnormal anatomy 98
W
U classification 99
clinical features 101 Wedging 5
UHL’s anomaly 247 signs 101 Window ductus 116