CONGENITAL HEART DISEASE

By
Dr Louise HM Aluoch
 EPIDEMIOLOGY

 Heartdisease in children is mostly congenital in the

western world
 In Kenya majority have acquired (rheumatic) heart
disease
8 per 1000 live born infants have cardiac malformations
1 in 10 stillborn infants have a cardiac abnormality
 CAUSES OF CONGENITAL HEART DISEASE
Maternal disorders
Rubella infection Peripheral pulmonary stenosis, PDA
SLE Complete heart block
Diabetes mellitus Incidence increased overall
Maternal drugs
Warfarin therapy Pulmonary valve stenosis, PDA
Fetal alcohol syndrome ASD, VSD, Tetralogy of Fallot
Chromosomal abnormality
Down Syndrome (trisomy 21) Atrioventricular septal defect, VSD
Edwards Syndrome (trisomy 18) Complex
Patau Syndrome (trisomy 13) Complex
Turner Syndrome (45 XO) Aortic valve stenosis, Coarctation of the aorta
NEWBORN WITH SUSPECTED CHD

 Not all newborns with murmurs have CHD

 Not all newborns with CHD have murmurs
 Not all newborns with CHD present in the new born period
 Not all newborns with clinical findings of CHD need
immediate intervention

Know that:
 It is often difficult to differentiate CHD from pulmonary
and other diseases (especially sepsis) in a newborn infant
 COMMON PRESENTATION OF CHD

Left to right shunt

Right to left shunt

Common mixing

Outflow obstruction in a
well child

Outflow obstruction in a
sick neonate
 COMMON PRESENTATION OF CHD

Left to right shunt Breathless

Right to left shunt Blue

Common mixing Breathless and blue

Outflow obstruction in a Asymptomatic with a murmur

well child

Outflow obstruction in a Collapsed with shock

sick neonate
 COMMON PRESENTATION OF CHD (80%)

Left to right shunt Breathless VSD 30%

PDA 12%
ASD 7%

Right to left shunt Blue TOF 5%

TGV 5%

Common mixing Breathless and blue AV Septal Defect 2%

Outflow obstruction in a Asymptomatic with a murmur PS 7%

well child AS 5%

Outflow obstruction in a Collapsed with shock Coarctation Aorta 5%

sick neonate
RARE PRESENTATION OF CHD (20%)

 10– 15% of children with CHD have complex

lesions with more than one cardiac abnormality
 About
10 – 15% also have a non-cardiac
abnormality
HEART MURMURS
 Most common presentation of CHD
 But 30% of children have an ‘innocent’ murmur, especially during
fever or due to increased cardiac flow with anaemia
 Hallmarks:
 Asymptomatic patient
 Soft blowing murmur
 Systolic murmur only, not diastolic
 Left sternal edge
 Normal heart sounds with no added sounds
 No parasternal thrill
 No radiation
ACYANOTIC CONGENITAL HEART DISEASE

Left to right shunt

1. VSD

2. ASD

3. PDA
 ACYANOTIC CONGENITAL HEART DISEASE
1. VSD

May be large or small, single or multiple

Location
 Membranous (75-80%)
 Muscular or trabecular (5-20%). Spontaneous closure is common
 Canal or inlet (8%) This defect commonly lies beneath the septal
leaflet of the tricuspid valve; Associated with Down Syndrome
 The Subarterial, outlet, infundibular or supracristal (5-7%). This
is the least common type of defect. It is usually found beneath
the aortic valve and it may lead to aortic regurgitation
SMALL VSD
 Smaller than aortic valve in diameter, perhaps up to 3 mm
 Clinical features
• Symptoms: asymptomatic
• Signs: loud pansystolic murmur lower left sternal edge
(loud murmur=small defect)
• Quiet pulmonary second sound (P2)
 Investigations
• CXR: Normal
• ECG: Normal
• Echo: demonstrates precise anatomy of the defect and
haemodynamic effects can be assessed. There is no
pulmonary hypertension
LARGE VSD
 The same size or bigger than the aortic valve
 Symptoms:
• heart failure with breathlessness and failure to thrive after 1
week old
• Recurrent chest infections
 Signs:
• tachypnoea, tachycardia and enlarged liver from heart failure
• Active precordium
• Soft pansystolic murmur or no murmur (implying large defect)
• Apical mid-diastolic murmur from increased flow across the
mitral valve after the blood has circulated through the lungs
• Loud pulmonary second sound (P2) from raised pulmonary
arterial pressure
INVESTIGATIONS
 CXR
• Cardiomegaly
• Enlarged pulmonary arteries
• Increased pulmonary vascular markings
• Pulmonary oedema
 ECG
• Biventricular hypertrophy by 2 months of age
 ECHOCARDIOGRAPHY
• Demonstrates the anatomy of the defect,
haemodynamic effects and pulmonary hypertension
(due to high flow)
ECG
SIZE OF DEFECT RESULTS
Small restrictive VSD • Normal tracing

Medium sized VSD • Broad notched P wave characteristic of left atrial

overload
• Signs of LV volume overload – deep Q and tall R
waves with tall T waves in leads V5 and V6
• Signs of atrial fibrillation are often present

Large VSD • Right ventricular hypertrophy with right axis

deviation
• With further progression the ECG shows
biventricular hypertrophy;
• P waves may be notched or peaked
 MANAGEMENT
 Drugtherapy for heart failure with diuretics, often
combined with captopril
 Additional calorie input is required
 There is always pulmonary hypertension in children
with large VSD. This will lead to irreversible damage
of the pulmonary capillary vascular bed. To prevent
this, surgery should be performed at 3-6 months of
age, in order to:
• Manage heart failure and failure to thrive
• Prevent permanent lung damage from PHT and high blood
flow
SURGICAL REPAIR WITH A PATCH
INSERTED
ATRIAL SEPTAL DEFECT (ASD)
 There are two main types of ASD. Both present with similar
symptoms and signs , but their anatomy is quite different.
1. Secundum ASD (80% of ASD’s). The defect is in the centre of
the atrial septum involving the foramen ovale
2. Partial atrioventricular septal defect (Primum ASD, pAVSD)
This is a defect in the atrio-ventricular septum . It has:
• An intra-atrial communication between the bottom
end of the atrial septum and the atrioventricular
valves
• Abnormal atrioventricular valves with the left AV
valve which has three leaflets and tends to leak
CLINICAL FEATURES
 SYMPTOMS
• None (commonly)
• Recurrent chest infections / wheeze
• Arrhythmias (fourth decade onwards)
 SIGNS
• An ejection systolic murmur best heard at the upper left sternal
edge – due to increased flow across the pulmonary valve because
of the left to right shunt
• A fixed and widely split second heart sound (often difficult to
hear) due to the right stroke volume being equal in both
inspiration and expiration
• With a partial AVSD, an apical pansystolic murmur from
atrioventricular valve regurgitation
INVESTIGATIONS
 CXR
• Cardiomegaly
• Enlarged pulmonary arteries
• Increased pulmonary vascular markings
 ECG
• Secundum ASD: partial right bundle branch block is common.
Right axis deviation due to right ventricular enlargement
• Partial AVSD: a ‘superior’ QRS axis (mainly negative in AVF).
This occurs because there is a defect of the middle part of the heart
where the AV node is. The displaced node then conducts to the ventricles
superiorly, giving the abnormal axis
 ECHO
• Will delineate the anatomy and is the mainstay of diagnostic
investigations
MANAGEMENT

 Children with significant ASD, large enough to cause right

ventricle dilatation, will require treatment
 For secundum ASD this is by cardiac catheterisation with
insertion of an occlusion device
 For partial AVSD surgical correction is required.
 Treatment is usually undertaken at about 3-5 yrs of age,
in order to prevent right heart failure and arrhythmias in
later life.
 Insert page 307 picture
PERSISTENT DUCTUS ARTERIOSUS (PDA)

 The Ductus Arteriosus connects the pulmonary artery to

the descending aorta
 In term infants it normally closes shortly after birth
 In PDA it has failed to close by 1 month after the expected
day of delivery
 The flow of blood is then from the aorta to the pulmonary
artery (left to right) following the fall in pulmonary
vascular resistance after birth.
 In preterm infants, the presence of a PDA is not from
congenital heart disease, but due to prematurity.
Patent Ductus Arteriosus
1. Blood shunts from
aorta (left) to the
pulmonary artery
(right)
2. Returns to the lungs
causing increase
pressure in the lung
3. Congestive heart
failure
CLINICAL FEATURES
 In prematures it presents with only a systolic murmur, as
long as the pulmonary vascular pressures are still high
 Most children have a continuous (machinery) murmur
beneath the left clavicle. It continues into diastole because
the pressure in the pulmonary artery is lower than that in
the aorta throughout the cardiac cycle.
 The pulse pressure is increased, causing a collapsing or
bounding pulse
 Symptoms are present when the duct is large due to
increased pulmonary blood flow, leading to heart failure and
pulmonary hypertension
INVESTIGATIONS

 CXR and ECG are usually normal. But if PDA is large the
features are indistinguishable from those seen in large VSD

 ECHOCARDIOGRAPHY is done to identify the duct, and to

measure flow and pressures
MANAGEMENT

 Medical Management in neonates:

Indomethacin - inhibits prostaglandin's which help
keep the ductus arteriosus open
 Closure is recommended to abolish the lifelong risk of
bacterial endocarditis and of pulmonary vascular disease.
 Closure is with a coil or occlusion device introduced via a
cardiac catheter at about 1 year of age
 Occasionally, surgical ligation is required
RIGHT TO LEFT SHUNTS

Presentation is with cyanosis in the first week of life

(Blue, oxygen saturation <94% or collapsed)

 Tetralogy of Fallot
 Transposition of the great arteries
HYPEROXIA TEST

 Test is used to help determine the presence of heart

disease in a cyanosed neonate
 Infant is placed in 100% oxygen for 10 minutes
 If oxygenation is not improving, it is more likely a cyanotic
heart disease
 If oxygenation is improving, lung disease or persistent
pulmonary hypertension might be the problem
 Test is best done with arterial blood sampling for blood
gas analysis
MANAGEMENT

 Most infants with cyanotic heart disease presenting in the

first few days of life are duct dependent
 Maintenance of ductal patency is the key to early survival

1. Stabilise the airway breathing and circulation (ABC) with

artificial ventilation if necessary
2. Start prostaglandin infusion (PGE, 5 ng/kg/min)
3. Observe for potential side effects: apnoea, jitteriness, and
seizures, flushing, vasodilatation and hypotension
CYANOTIC CONGENITAL HEART DISEASES

5 T’s

 Tetralogy of Fallot
 Transposition of the great arteries
 Truncus arteriosus
 Tricuspid atresia
 Total anomalous pulmonary venous return
TETRALOGY OF FALLOT

 Ismost common cause of cyanotic congenital heart

disease
 There are four cardinal anatomical features:
• A large VSD
• Overriding of the aorta with respect to the
ventricular septum
• Sub-pulmonary stenosis causing right ventricular
outflow tract obstruction
• Right ventricular hypertrophy as a result
 PRESENTATION
 First 2 month of life: identification of a loud, harsh ejection
systolic murmur at the left sternal edge. Cyanosis might not be
obvious yet.
 In late infancy: cyanosis, hypercyanotic spells and squatting on
exercise
 Older children: Clubbing of fingers and toes

 HYPERCYANOTIC SPELLS are characterized by rapid increase in

cyanosis, associated with irritability or crying with severe
hypoxia and breathlessness and pallor because of tissue acidosis.
 They may lead to myocardial infarction, cerebrovascular
accidents and even death.
Signs and Symptoms
1. Failure to thrive
2. Squatting
3. Lack of energy
4. Infections
5. Polycythemia
6. Clubbing of fingers
7. Cerebral absess
8. Cardiomegaly
INVESTIGATIONS
 CXR
• Boot shaped heart, relatively small, with uptilted apex due to RVH
• There is a empty pulmonary bay (concavity on the left heart border,
where the main pulmonary artery and right ventricular outflow tract
would normally be)
• There may be a right sided aortic arch
• There are decreased pulmonary vascular markings reflecting reduced
pulmonary flow
 ECG
• Normal at birth, right ventricular hypertrophy when older
 ECHOCARDIOGAM
• This will demonstrate the cardinal features, catheterization necessary to
show detailed anatomy eg of coronary arteries
MANAGEMENT
 Initial medical mgmt., then corrective surgery from 6 month of age, with
closing VSD, relieving right ventricular outflow tract obstruction, sometimes
with an artificial patch which extends across the pulmonary valve
 Less extensive surgery is placement of modified Blalock-Taussig shunt to
increase pulmonary blood flow: (artificial tube between subclavian artery
and pulmonary artery) or balloon dilatation of right ventricular outflow track
 Polycythaemia mgmt: if Hb >17 g/dl by exchanging blood 20 ml/kg with
normal saline. Pt might need iron supplements!
SURGICAL OPTIONS
 Surgical interventions
 Blalock – Taussig or Potts procedure – increases blood flow to the lungs.
 Open heart surgery
MANAGEMENT HYPERCYANOTIC SPELLS


Put pt in knee chest position
 Spells usually self limiting and followed by sleep.

If > 15 minutes:
 Sedation and pain relief (eg morphine)
 IV propranolol which works as peripheral vasoconstrictor
and reliefs sub-pulmonary muscular obstruction that is
cause of reduced pulmonary flow
 IV fluids and bicarbonate to correct acidosis
TRANSPOSITION OF THE GREAT ARTERIES

 Aorta is connected to right ventricle, and the pulmonary

artery is connected to the left ventricle, so there are 2
parallel circulations
 This is incompatible with life, unless there is mixing of
blood
 There are naturally occurring associated anomalies, eg
VSD, ASD and PDA
CLINICAL FEATURES

 Cyanosis may be profound and life-threatening

 Presentation is on day 2 of life when ductal closure leads
to marked reduction in mixing of desaturated and
saturated blood
 There is no murmur
 Cyanosis is less severe if an associated anomaly is present
INVESTIGATIONS
 CXR
• Narrow upper mediastinum with ‘egg on side’ appearance
(due to anteroposterior relationship of the great vessels
and hypertrophied right ventricle
• Increased pulmonary vascular markings due to increased
pulmonary blood flow
 ECG
• This is usually normal
 ECHOCARDIOGRAM
• This demonstrates the abnormal arterial connections and
associated abnormalities
MANAGEMENT
 Inthe sick cyanosed neonate the key is to improve
mixing
 Maintaining the patency of the ductus arteriosus with
a prostaglandin infusion
 Balloon atrial septostomy may be life saving
 Allpatients with TGA will require surgery, which is
usually the arterial switch procedure. The pulmonary
artery and the aorta are transected above the arterial
valves and switched over. Also the coronary arteries
have to be transferred to the new aorta.
BALLOON ATRIAL SEPTOSTOMY

A balloon (about 2 ml) is

pulled through the atrial
septum from the left atrium
to the right atrium in order
to increase the size of the
atrial defect. This is done
with echocardiographic
guidance
EISENMENGER SYNDROME

 If high pulmonary blood flow is not treated at an early

stage, then the pulmonary arteries become thick walled
and the resistance to flow increases.
 Gradually the children become less symptomatic as the
shunt decreases.
 Eventually, at about 10 – 15 years, the shunt reverses and
the patient becomes cyanosed.
 This situation is progressive and leading to death with
right heart failure at variable age.
 Treatment is aimed at prevention of this condition
TRUNCUS ARTERIOSUS
 A single arterial trunk arises from
both ventricles that supplies the
systemic, pulmonary, and
coronary circulations. A VSD and
a single, defective truncal valve
also exist.
 Entire systemic circulation
supplied from common trunk.
COMMON MIXING
(BLUE AND BREATHLESS)
 This occurs in complete atrioventricular septal defect and complex congenital
heart disease
 Complete AV septal defect (cAVSD) is most commonly seen in Down’s
syndrome.
 It is a defect in the middle of the heart with a single five-leaflet (common)
valve between the atria and ventricles, which stretches across the entire
atrioventricular junction and tends to leak.
 As there is a large defect, there is pulmonary hypertension.
COMPLETE AV SEPTAL DEFECT

 Cyanosis at birth or heart failure at 2-3 weeks of life

 No murmur
 Lesion often detected on routine echocardiogram
screening of newborn baby with Down Syndrome
 Superior axis on ECG

 Management: medical treatment of heart failure

 Surgical repair from 3-6 months of age
 Insert picture p 314
OUTFLOW OBSTRUCTION IN THE WELL CHILD

 Aortic stenosis

 Pulmonary stenosis

 Adult type Coarctation of the aorta

AORTIC STENOSIS

 The aortic valve leaflets are partly fused together,

giving a restrictive exit from the left ventricle
 There may be one or three aortic leaflets
 Aortic stenosis may not be an isolated lesion
 Itis often associated with mitral valve stenosis and
coarctation of the aorta
 CLINICAL FEATURES
 Most mild stenosis and asymptomatic , only present with an murmur
 In severe stenosis:
 reduced exercise tolerance,
 chest pain on exertion or
 syncope
 Critical aortic stenosis presents in the neonatal period: there is a duct-dependent
systemic circulation. There can be severe heart failure leading to shock
 Physical signs:
• Small volume slow rising pulse
• Carotid thrill (always)
• Ejection systolic murmur maximal at upper Rt sternal edge, radiating to the neck
• Delayed and soft aortic second sound
• Apical ejection click
INVESTIGATIONS

 CXR
• Normal, or prominent left ventricle with post-stenotic
dilatation of the asceanding aorta
 ECG
• There may be left ventricular hypertrophy
MANAGEMENT
 Children need regular clinical and echocardiographic
assessment in order to determine when to intervene
 Children with symptoms on exercise or who have a high
resting pressure gradient (>64 mm Hg) across the aortic
valve need balloon valvotomy
 Balloon dilatation in older children is generally safe and
uncomplicated, but in neonates this is more difficult and
dangerous
 Early treatment is therefore palliative and directed
towards delaying this for as long as possible
PULMONARY STENOSIS

 The pulmonary leaflets are partly fused together, giving a restrictive exit
from the right ventricle
CLINICAL FEATURES

SYMPTOMS
• Most are asymptomatic
• Small number of neonates with critical pulmonary stenosis have a
duct-dependant pulmonary circulation, and present in the first few
days of life with cyanosis

PHYSICAL SIGNS
• An ejection systolic murmur best heard at the upper Lt sternal edge.
• Thrill may be present
• An ejection click best heard at the upper Lt sternal border
• When severe, there is a prominent right ventricular impulse (heave)
INVESTIGATIONS and MANAGEMENT
 CXR
• Normal, or post stenotic dilatation of the pulmonary artery
 ECG
• Evidence of right ventricular hypertrophy (upright wave in V1)
 MANAGEMENT
• Most children are asymptomatic
• Intervention required when pressure gradient across the
valve markedly increased (> 64 mm Hg)
• Treatment of choice is balloon dilatation
ADULT TYPE COARCTATION OF THE
AORTA
 Uncommon, not duct dependent
 Asymptomatic
 Systemic hypertension in the right arm
 Ejection systolic murmur at upper sternal edge
 Collaterals heard with continuous murmur at the back
 Radio-femoral delay. This is due to blood bypassing the
obstruction via collateral vessels in the chest wall, and
hence the pulse in the legs is delayed
INVESTIGATIONS AND MANGEMENT

 CXR
• ‘Rib notching’ due to development of large collateral intercostal
arteries running under the ribs posteriorly to bypass the
obstruction
• ‘3’ sign, with visible notch in the descending aorta at site of the
coarctation
 ECG
• Left ventricular hypertrophy
 MANAGEMENT
• When condition is severe, as assessed by echocardiography, a
stent may be inserted with cardiac catheterisation.
• Sometimes surgical repair is required
OUTFLOW OBSTRUCTION IN THE SICK INFANT

 Coarctation of the aorta

 Interruption of the aortic arch

 Hypoplastic left heart syndrome

CLINICAL FEATURES

 All these children usually present sick, with heart failure

and shock in the neonatal period (unless diagnosed on
antenatal ultrasound)
 Management is to resuscitate first (ABC)
 Prostaglandin should be commenced at the earliest
opportunity
 Referral is made to a cardiac centre for early surgical
intervention
 COARCTATION OF THE AORTA
 Due to arterial duct tissue encircling the aorta just at the point of insertion of
the duct.
 When the duct closes, the aorta also constricts, causing severe obstruction to
the left ventricular outflow.

CLINICAL FEATURES
• Examination on the first day of life is usually normal
• The neonates usually present with acute circulatory collapse at 2 days of age
SIGNS
• A sick baby with heart failure
• Absent femoral pulses
• Severe metabolic acidosis
INVESTIGATIONS AND MANAGEMENT

 CXR
• Cardiomegaly from heart failure and shock
 ECG
• Normal
 MANAGEMENT
• Maintain ABC
• Prostaglandin infusion
• Surgical repair
Coarctation of the Aorta
1. Narrowing of Aorta causing obstruction
of left ventricular blood flow
2. Left ventricular hypertrophy

Signs and Symptoms

3.  B/P in upper extremities
4. B/P in lower extremities
5. Radial pulses full/bounding and
femoral or popliteal pulses weak
or absent
6. Leg pains, fatigue
7. Nose bleeds
INTERRUPTION OF THE AORTIC ARCH
 Uncommon, no connection between proximal aorta and the arterial duct, so
cardiac output is dependent on right to left shunt via the duct
 A VSD is usually present
 Presentation is similar as before with shock in the neonatal period

FINDINGS
• Circulatory collapse
• Absent femoral pulses and absent left brachial pulse
• Association with other conditions as DiGeorge Syndrome (absence thymus, palatal
defects, immunodeficiency, hypocalcaemia, 22q11.2 gene micro-deletion)

MANAGEMENT
• Same : ABC, Prostaglandin infusion, Surgery
HYPOPLASTIC LEFT HEART SYNDROME
 There is underdevelopment of the entire left side of the heart
 The mitral valve is small or atretic, the left ventricle is diminutive,
and there is usually aortic valve atresia
 The ascending aorta is very small and there is invariably Coarctation
of the aorta
FINDINGS
• Very sick neonate with duct-dependent systemic circulation
• There is no flow through the left side of the heart
• Ductal constriction leads to profound acidosis and rapid cardiovascular
collapse
• There is weakness or absence of all peripheral pulses
MANAGEMENT
• Surgical correction in 3 phases, difficult operations, prognosis guarded
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