1

CONGENITAL
HEART DISEASE
DR.ABERA OLANI

ASSISTANT PROFESSOR OF PEDIATRICS AND CHILD HEALTH

 . EPIDEMIOLOGY

• Congenital heart disease occurs in 0.5–0.8% of live births.

• The incidence is higher in
spontaneous abortuses (10–25%), and
stillborn (3–4%),
premature infants (about 2% excluding PDA).
 RELATIVE
. FREQUENCY OF CONGENITAL HEART
DISEASE

LESION % OF ALL LESIONS

Ventricular septal defect 25–30
Atrial septal defect (secundum) 6–8
Patent ductus arteriosus 6–8
Coarctation of aorta 5–7
Tetralogy of Fallot 5–7
Pulmonary valve stenosis 5–7
Aortic valve stenosis 4–7
d-Transposition of great arteries 3–5
 RELATIVE
. FREQUENCY OF CONGENITAL HEART DISEASE, CONTINUED

lesion % of all lesions

Hypoplastic left ventricle 1–3

Hypoplastic right ventricle 1–3

Truncus arteriosus 1–2

Total anomalous pulmonary venous return 1–2

Tricuspid atresia 1–2

Single ventricle 1–2

Double-outlet right ventricle 1–2

Others 5–10
 CONGENITAL HEART DISEASE FATAL IN FETAL LIFE

Most congenital defects are well tolerated in the fetus because of the parallel nature of the
fetal circulation.
Except Ebstein anomaly even the most severe cardiac defects (hypoplastic left heart
syndrome) can usually be well compensated for by the fetal parallel circulation.
CHD becomes apparent after birth when the fetal pathways are closed.
 TIME OF PRESENTATION
 At birth
Present with severe respiratory distress
 Critical semilunar valve stenosis
 Hypoplastic left heart syndrome
 D-transposition with no shunt lesion

 At 6-8 weeks
 Most left to right shunt lesions
 When the pulmonary vascular resistance decreases to less than the systemic pressure.
 Symptomatology depends on the degree of shunt
 DYNAMICS OF CONGENITAL HEART DISEASE

The severity of various defects can change dramatically with growth.

Muscular VSDs become smaller or close spontaneously.
Semilunar valve stenosis mild in the newborn period, may become worse if valve orifice
growth does not keep pace with patient growth.
 . ETIOLOGY

• Multifactorial
 Heriditary/familial
 Chromosomal
 Teratogenic factors/environmental/maternal drug use .

• Heart disease is found in more than

 90% of patients with trisomy 18,
 50% of patients with trisomy 21, and
 40% of those with Turner syndrome.
 . ENVIRONMENTAL RISKS

o Two to 4% of cases of CHD

• Adverse maternal conditions
 maternal diabetes mellitus
 systemic lupus erythematosus;
 phenylketonuria
• Teratogenic influences
 congenital rubella syndrome
 maternal ingestion of drugs (lithium, ethanol, warfarin, anticonvulsant agents…….).
 . GENDER DIFFERENCES

Transposition of the great arteries and left-sided obstructive lesions are slightly more
common in boys (65%).
 whereas shunt lesions and pulmonic stenosis are more common in girls.
No racial differences in CHD.
 . FAMILIAL RISKS

 The risk of recurrence of CHD increases if a 1st-degree relative is affected.

 One first degree relative is affected---risk is 2–6%.
 Two 1st-degree relatives affected ---the risk may reach 20–30%.
 When a 2nd child is found to have congenital heart disease, it will tend to be of a similar class
as the lesion in their 1st-degree relative.
 The degree of severity and associated defects may be variable.
 . BASIS OF CLASSIFICATION OF CHD

• Presence or absence of cyanosis

• Chest X ray
increased, normal, or decreased pulmonary vascular markings.
• Electrocardiogram
right, left, or biventricular hypertrophy
 . ACYANOTIC CHD

• Lesions causing volume overload

 left-to-right shunt lesions(ASD,VSD,PDA).
 Atrioventricular valve regurgitation(AV septal defect)

• Lesions causing pressure over load

 ventricular outflow obstruction(AS,PS)
 coarctation of the aorta.
 . LEFT-TO-RIGHT SHUNTING LESIONS

• The direction and magnitude of the shunt depend on the size of the defect and the relative
pulmonary and systemic pressure and vascular resistance.
 . DYNAMIC CHANGES

Intracardiac defects may grow smaller with time.

Pulmonary vascular resistance decreases to normal adult levels by several weeks of life and
pts with shunt lesion become symptomatic.

Chronic exposure of the pulmonary circulation to high pressure and blood flow results in a
gradual increase in pulmonary vascular resistance (Eisenmenger physiology) with shunt
reversal.
LESIONS
. RESULTING IN INCREASED PRESSURE LOAD

• Pulmonic stenosis
• Aortic stenosis
• Coarctation of the aorta
• Tricuspid or mitral stenosis.
 . CYANOTIC CHD
• Lesions with decreased pulmonary blood flow
 tetralogy of Fallot.
 pulmonary atresia with an intact septum,
 tricuspid atresia,
 total anomalous pulmonary venous return with obstruction.

 Lesions with increased pulmonary blood flow

 transposition of the great vessels,
 single ventricle,
 truncus arteriosus,
 total anomalous pulmonary venous return without obstruction.
CYANOSIS
. WITH DECREASED PULMONARY BLOOD FLOW

• Cyanosis is caused by
obstruction to pulmonary blood flow with right to left shunt of venues blood.

• The degree of cyanosis depends on the degree of obstruction to pulmonary

blood flow.
CYANOSIS WITH INCREASED PULMONARY BLOOD FLOW
.

• Cyanosis is caused by
abnormal ventricular-arterial connections
• Transposition of the great vessels

Total mixing of systemic venous and pulmonary venous blood within the heart
• A common atrium or ventricle,
• Total anomalous pulmonary venous return, and
• Truncus arteriosus
 .

ACYANOTIC HEART DISEASE

I.SHUNT LESIONS
 . ATRIAL SEPTAL DEFECT

Failure of development of embryonic atrial septal structure.

Can occur in any portion of the atrial septum
 secundum, primum, or sinus venosus.

Isolated secundum ASDs account for ≈7% of CHD.

Sporadic (majority) or Familial (AD)
Female to male ratio ,3-4:1.
 . TYPES OF ATRIAL SEPTAL DEFECTS

Four basic types of ASDs are known.

1. Ostium secundum defect
2. Ostium primum defect
3. Sinus venosus defect
4. Coronary sinus septal defect
 . PATHOLOGY

• Secundum ASD
 Defect occurs in the area of the fossa ovalis and
 Results from excessive fenestration or resorption of septum
primum, underdevelopment of septum secundum, or a
combination of the two.

• Ostium primum defect:

 results from failure of the endocardial cushions to close the
ostium primum.
 Because endocardial cushions also form the mitral and
tricuspid valves, ostium primum defects virtually always are
associated with a cleft in the anterior mitral valve leaflet.
 . .

• Sinus venosus defect:

 found in the posterior aspect of the septum near the
superior vena cava or the inferior vena cava.
 Associated with anomalus venus return.

• Coronary sinus septal defect:

 The least common type
 A portion of the roof of the coronary sinus is missing,
allowing shunting of blood from the left atrium into the
coronary sinus and subsequently into the right atrium.
 . PATHOPHYSIOLOGY

• The degree of left-to-right shunting is dependent on

the size of the defect,
the relative compliance of the right and left ventricles
the relative vascular resistance in the pulmonary and systemic circulations

• As the right ventricle becomes more compliant than the left ventricle, the atrial
level left-to-right shunt increases.
 . .

ASDs are asymptomatic in early infancy because of the increased compliance of the right ventricle
and symptoms begin when PVR decreases.
Pts with small ASD are asymptomatic.
Most defects causing murmurs or symptoms are moderately large to large in size with left-to-right
shunting.
Despite the large pulmonary blood flow, pulmonary arterial pressure is usually normal because of
the absence of a high-pressure communication between the pulmonary and systemic circulations.
Patients could ultimately develop Esenmenger syndrome during adolescence or adulthood.
 . CLINICAL MANIFESTATIONS

Usually incidental finding----Most patients asymptomatic

Subtle failure to thrive
Exercise intolerance

 Physical findings
 Fixed spliting of S2
 There is an ejection systolic murmur at mid to upper left sternal border caused by a turbulence flow at the
RVOT and not because of the shunt.
 Diastolic murmur at tricuspid valve.
 . DIAGNOSIS

• CXR
nonspecific but include right atrial and right ventricular dilation, pulmonary artery
dilation, and increased pulmonary vascular markings
• ECG
right axis deviation, right ventricular hypertrophy
Prolonged PR interval.

• Echocardiography
The site , size of the shunt and associated congenital cardiac lesions.
 . TREATMENT

• If in CHF
diuretics, digoxin, and afterload reduction
• Definitive procedure
Surgical/ catheter closure of the defect
• Not all lesions need closure
• Indicated when the Qp:Qs ratio>2:1 or if symptomatic.
 . PROGNOSIS

Spontaneous closure in 15% of secondum ASDs.

Pulmonary hypertension,
atrial dysrhythmias,
tricuspid or mitral insufficiency, and
heart failure
Infective endocarditis
 extremely rare
 No IE prophylaxis for isolated ASD
.

VENTRICULAR SEPTAL
.
DEFECT
 . ANATOMY

Inadequate development of any of the component parts of ventricular septum

(1) the muscular portion of the interventricular septum,
(2) the endocardial cushions, or
(3) the bulbar ridges (conotruncal ridges).

Communication between the two ventricles

 . .

VSD is the most common cardiac malformation and accounts for 30% of
congenital heart disease.
Defects may occur in any portion of the ventricular septum, but most are of the
membranous type.
Supracristal VSDs are found just beneath the pulmonary valve and may impinge
on an aortic sinus and cause aortic insufficiency.
 TYPES OF VSD

• Membraneous
• Muscular
• Supracristal
• AV canal defect
 . PATHOPHYSIOLOGY

• Determinants of left-to-right shunt in VSD.

 Size of the VSD –major determinant
 Pulmonary vascular resistance

• Restrictive VSD
 Small VSD<0.5 cm2

• large VSDs (nonrestrictive)

 Size usually >1.0 cm2,
 right and left ventricular pressure is equalized.
 direction and magnitude of shunt are determined by Qp:Qs.
 . .

o As pulmonary vascular resistance continues to fall in the 1st few weeks after birth because of
normal involution of the media of small pulmonary arterioles, the size of the left-to-right shunt
increases.
o Eventually, a large left-to-right shunt develops, and clinical symptoms become apparent.
o With continued exposure of the pulmonary vascular bed to high systolic pressure and high flow,
pulmonary vascular obstructive disease develops.
o When the ratio of pulmonary to systemic resistance approaches 1 : 1, the shunt becomes
bidirectional, the signs of heart failure abate, and the patient becomes cyanotic (Eisenmenger
physiology).
 . CLINICAL FEATURES

o Small VSDs are asymptomatic.

o Large VSDs
 dyspnea, feeding difficulties, poor growth, profuse perspiration, recurrent pulmonary infections, and cardiac failure in
early infancy.
o Physical findings (large VSD)
 Precordial bulge
 Holosystolic murmur
 Diastolic murmur at apex- increased flow
 Accentuated P2- pulmonary HTN
 . DIAGNOSIS

• CXR
 cardiomegaly, prominent broncho vascular markings, large pulmonary artery

• ECG
 Biventricular hypertrophy
 Peaked or notched P wave

• Echocardiography
 Site and size of defect, associated cardiac leisions
 . NATURAL HISTORY

Spontaneous closure can occur during the first 4 yrs. of life.

Closure may occur by,
hypertrophy of the septum,
formation of fibrous tissue,
subaortic tags,
apposition of the septal leaflet of tricuspid valve,
Rarely, by prolapse of a leaflet of the aortic valve.
Closure is most frequently observed in muscular defects (80%) followed by perimembranous defects (35-40%).
Outlet VSDs have a low incidence of spontaneous closure, and inlet VSDs do not close.
 . COMPLICATIONS

CHF
Pulmonary hypertension
Eisenmenger physiology.
Aortic regurgitation-Supracristal VSD
Acquired infundibular Pulmonary stenosis.
Infective endocarditis
 . TREATMENT

o For those who had large VSD with CHF

• Diuretics,digoxin,ACE inhibitors
• Good oral & dental hygiene
o Definitive treatment
• Palliative pulmonary artery banding
• Closure of VSD
 . Indications for surgery

CHF & failure to thrive uncontrolled medically;

Infants 6 -12 mo of age with large defects with pulmonary hypertension
Patients older than 24 mo with a Qp : Qs ratio greater than 2 : 1.
Supracristal VSD irrespective of size.
.

PATENT DUCTUS ARTERIOUSUS

.
 . INTRODUCTION

Ductus arteriosus in fetal life provides systemic circulation to the lower part of the body.
Functional closure occurs immediately after birth (24 hours).
Anatomic closure 90% complete at 2 months and 99% at one year.
Closure is mainly by increased oxygenation.
When ductus persists beyond expected time after birth (4 months) it is called PDA.
 . EPIDEMIOLOGY

PDA is the persistence of the normal fetal vessel that joins the pulmonary artery to the aorta.

Accounts for 10% of all cases of CHD.

Twice as common in females as in males.

Common in preterm infants (20–60%).

 PATHOLOGY

PDA in preterm infants is caused by hypoxia and prematurity ; the wall is normal.
PDA in term infants is deficient both in the endothelial and muscular layer.
Congenital Rubella syndrome causes cytopathic damage to ductus arteriosus and results in
PDA.
 PATHOPHYSIOLOGY

o PDA provides pulmonary blood flow when the right ventricular outflow tract is stenotic or atretic and it
provides systemic blood flow in the presence of aortic coarctation or interruption
o Shunt direction & magnitude through PDA depends on the size of the defect and the relationship between
pulmonary vascular resistance and systemic pressure.
o PDA shunts blood from the Aorta to the pulmonary artery until Esinmenger physiology develops.
o Small PDA
o no significant shunt
o Large PDA
o significant shunt (up to 75% of CO) and results in pulmonary vascular resistance.
 CLINICAL FEATURES

Small PDA asymptomatic

Large PDA results CHF and growth failure.
 physical findings
 Bounding pulse and wide pulse pressure
 Active precordium
 Shifted apical beat.
 Systolic thrill at the left 2nd inter space.
 Continuous machinery murmur.
 The murmur become predominantly systolic if pulmonary hypertension develops.
 DIAGNOSIS

CXR- in large PDA

 Significant cardiomegaly with prominence of pulmonary artery and increased bronchovascular markings

Echocardiography
 Assess the Size of defect ,associated cardiac anomalies, development of pulmonary hypertension or
Eisinmenger syndrome
 COMPLICATIONS

CHF
Failure to thrive
Infective endarteritis
Pulmonary hypertension
Eisenmenger syndrome.
 MANAGEMENT

• Medical management
Treat CHF

• Surgical or catheter closure is needed irrespective of the size of the defect to

avoid risk of endarteritis.
CONGENITAL HEART
DISEASE - PART III
OBSTRUCTIVE LESIONS
 COARCTATION OF THE AORTA

• Constrictions of the aorta occur at any point from the transverse arch to the iliac bifurcation.
• Types
 98% juxtaductal coarctation –adult type
 Preductal –infantile

• twice as often in males as in females.

• Common inTurner syndrome(25%)
• associated with a bicuspid aortic valve in more than 70% of patients.
 WHAT CAUSES COARCTATION?

• Decreased anterograde blood flow through the aortic valve in fetal life (e.g.,
bicuspid aortic valve, VSD) ,or
• Abnormal extension of contractile ductal tissue into the aortic wall.
 PATHOPHYSIOLOGY

• Blood from ascending aorta when reaching to juxta ductal coarctation goes preferentially to a
low pressure area such as PDA or left subclavian artery with diminished descending aortic
flow.
• In preductal coarctation of the aorta blood flow to the descending aorta is from pulmonary
artery via PDA resulting in differential cyanosis; pink upper body and blue lower extremities.
 PATHOPHYSIOLOGY

• Blood pressure is elevated in the vessels that arise proximal to the coarctation and lower distal
to coarctation.
• Cause of hypertension
 Mechanical obstruction
 Neurohumoral mechanisms.

• Coarctation of the aorta results in the development of an extensive collateral circulation to

bypass the area of coarctation.
 CLINICAL MANIFESTATIONS

Unless it is preductal most patients are asymptomatic.

Critical stenosis present with respiratory distress at birth.
leg weakness during exercise.
Radio-femoral delay
weak pulse in lower ext.
Upper body hypertension. Normally 10-20mmHg higher in lower extremity.
Systolic murmur at left sternal border at the 3rd and 4th intercostal spaces.
 DIAGNOSIS
• CXR
 Mild cardiomegaly
 Rib notching from collaterals in older children>8yrs

• ECG
 Right ventricular hypertrophy in infants
 Left ventricular hypertrophy (older children)

• Echocardiography
 Shows the site of obstruction
 Bicuspid aortic valve(70%)
 Associated lesions(VSD,PDA, parachute mitral valve)

• Angiography-better define the anatomy.

 COMPLICATIONS

• Heart failure –neonate

• Infective endarteritis
• Subarachnoid bleeding from berry aneurism
• Mycotic aneurism
• Aortic dissection
 TREATMENT

• Medical
Manage hypertension with ACE inhibitors

• Surgery
Excision of coarct and re-anastmosis
CYANOTIC HEART. DISEASE
 CYANOTIC CONGENITAL HEART DISEASE

• A severely ill neonate with cardiorespiratory distress and cyanosis is a diagnostic challenge.
• If congenital heart disease is a cause potentially lifesaving measures must be instituted.
DDX
Weak or irregular respiration
associated with Convulsions ,depression & a weak sucking reflex strongly suggest a CNS cause.
 Vigorous or labored respirations with tachypnea
primary cardiac or pulmonary disease
 .

• Hyperoxia test
• Differentiate cardiac causes from pulmonary, the later improves with 100% oxygen.

• PPHN improves with 100% oxygen.

• RDS from CNS insult improve with artificial respiration.
 OTHER FEATURES

• If there is a murmur it is a clue for cyanotic heart disease but most have no murmur even
with significant cyanotic CHD.
• CXR-cardiomegaly, increased/decreased pulmonary blood flow.
• Echocardiography: the only non invasive test to confirm diagnosis.
TETRALOGY OF FALLOT
.
 TOF

• The most common cyanotic heart disease

• 5-9 % of all CHD
• Four components
1) Malaligned ventricular septal defect,
2) Right ventricular outflow tract obstruction,
3) right ventricular hypertrophy,
4) Dextro positioned "overriding" aorta.
• Only the VSD and the right ventricular outflow tract obstruction are responsible for the physiology.
.
 VARIANTS OF TOF

• Classic TOF
• Pulmonary atresia (PA) with VSD
• TOF with absent pulmonary valve (APV) syndrome.
 CONDITIONS WITH SIMILAR PHYSIOLOGY TO TOF

• TGA,VSD and pulmonary stenosis,

• Double-outlet right ventricle with pulmonary stenosis,
• Atrioventricular septal defect with pulmonary stenosis,
• Single ventricle with pulmonary stenosis.
 CLINICAL FEATURES

• Cyanosis depend on the degree of pulmonary stenosis.

• Severe stenosis
• cyanotic with distress immediately or days after birth when PDA closes.

• Minimal obstruction
• Acyanotic
• large left to right shunt, the so-called "pink-tetralogy".
 CLINICAL FEATURES

• Exertional dyspnea
• Assume squating position to relieve dyspnea

• Hypoxic /tet spells

• Growth failure
• Dusky blue skin, gray sclerae with engorged blood vessels
• marked clubbing of the fingers and toes.
• Bulged precordium
• Ejection systolic murmur at 2 nd left interspace
 HYPOXIC SPELLS

• Common during the 1st 2 years

• Mechanism
• Near total obstruction of pulmonary blood flow with hypoxia and metabolic acidosis.

• Onset
• spontaneous and unpredictable.

• Time of occurrence
• in the morning on initially awakening
• after episodes of vigorous crying.
 HYPOXIC SPELLS

• Presentation
hyperpnea and restless, cyanosis increases, gasping respirations, and syncope.

• Duration and severity

few minutes to hours but are rarely fatal.

• Events after attack

generalized weakness and sleep.
convulsions or hemiparesis.
 TREATMENT OF TET SPELLS

• Knee chest position(squating position)

• Oxygen
• Sedation (morphine)
• Volume expansion
• propranolol 0.1-0.2mg/kg to relax RVOT.
 DIAGNOSIS
• CXR
 Narrow base of heart and Uplifted apex of heart
 Boat shaped cardiac silhouette
 Small size pulmonary artery
 Decreased bronchovascular markings

• ECG
 Right axis devaition and hyperthrophy

• Echocardiography
 Degree of over ride of aorta , degree of RVOT obstruction, presence of PDA, position of aortic arch (Rt
sided in 20% of TOF)
.
COMPLICATIONS

• Infective endocarditis,
• Systemic emboli, and
• Brain abscesses
 TOF, TREATMENT

• Prostaglandin E1 infusion if severe cyanosis at birth to keep ductal patency.

• Phlebotomy if polycytemic
• Iron supplementation
• Infective endocarditis prophylaxis
• Surgical procedure
• Palliation
• Blalock -Taussig
• Definitive procedure
• VSD closure and widening of the RVOT
TRANSPOSITION OF THE GREAT
ARTERIES
.
 INTRODUCTION

• ≈5% of all congenital heart disease.

• TGA is more common in infants of diabetic mothers and in males (3 : 1).
• With out corrective or palliative surgery, mortality >90% in the 1st yr of life.
 D-TGA, ANATOMY(PATHOLOGY)

• The systemic veins return to the right atrium and the pulmonary veins to the left atrium.
• The connections between the atria and ventricles are normal(atrioventricular concordance).
• The aorta arises from the right ventricle and the pulmonary artery from the left ventricle .
 D-TGA

• In normally related great vessels, the aorta is posterior and to the right of the pulmonary
artery; in d-transposition of the great arteries (d-TGA), the aorta is anterior and to the right
of the pulmonary artery (the d indicates a dextropositioned aorta).
 PATHOPHYSIOLOGY

Desaturated blood returning from the body to the right side of the heart goes to the aorta and
back to the body again, whereas oxygenated pulmonary venous blood returning to the left side
of the heart is returned directly to the lungs.
Survival depends on shunts through PDA, VSD , ASD or palliative atrial septostomy.
 DIAGNOSIS

Patients present with severe respiratory distress and cyanosis at birth if there is no adequate
mixing b/n the pulmonary and systemic circulations
Immediate management with prostaglandin or atrial septostomy
Cyanosis and CHF
Cyanosis is not responsive to O2.
 .
• ECG
• Right sided dominant leads

• CXR
• Cardiomegaly
• Narrow base with increased pulmonary flow
• (Egg on a string appearance)

• Echcardiography
• Confirm the diagnosis,
• type of transposition can be noted
• Assess the presence of shunts

• Catheterization for palliative atrial septostomy.

 L-TGA, ANATOMY(PATHOLOGY)

• The systemic veins return to the right atrium and the pulmonary veins to the left atrium.
• The left atrium is connected to the right ventricle and the right atrium is connected to left
ventricle (atrioventricular disconcordance)
• The aorta arises from the right ventricle and the pulmonary artery from the left ventricle .
• Physiologically corrected.
L-TGA

• Note that aorta is arising from the transposed right

ventricle and is to the left of the pulmonary artery.
• Circled numbers show O2 saturation.
94 TREATMENT

• Palliative
• Atrial septostomy for DTGA with no shunt

• Definitive
• Arterial switch (Jantene) for DTGA.
• atrial switch followed by arterial swich for LTGA.
.