Congenital Heart Disease

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Acyanotic lesions\: VSD, ASD, PDA.
Acyanotic features\: left to right shunting, increased pulmonary blood
murmurs (above nipple), pan-systolic murmurs (below nipple).
VSD\:
Most common (15-20%), associated with Down’s syndrome.
Symptoms\: small (asymptomatic), moderate (poor feeding, FTT, SOB), large (poor feeding, FTT, SOB, sweaty, pale).
Clinical
Investigations\: pulse oximetry, echocardiography, CXR, ECG (LVH, RVH).
Management\: small (no repair), moderate (diuretics, high-caloric feeds), large (surgery before 12 months).
ASD\:
Second most common (5-10%).
Symptoms\: typically asymptomatic, recurrent chest infections.
Clinical features\: ejection systolic murmur at ULSB, widely
Investigations\: pulse oximetry, ECHO, CXR, ECG (incomplete RBBB).
Management\: spontaneous closure (small lesions), percutaneous/surgical repair (large defects).
PDA\:
5-10% of congenital heart defects, common in preterm infants.
Symptoms\: small (asymptomatic), moderate (CHF, FTT), large (poor feeding, severe FTT, recurrent LRTIs).
Clinical features\: bounding pulses, wide pulse pressure, continuous machinery murmur at ULSB.
Investigations\: 2D echocardiography, Doppler, CXR, ECG.
Management\: spontaneous closure (preterm), medical (indomethacin/ibuprofen), surgical (catheter closure, PDA ligation).
Coarctation of the aorta\:
5% of congenital heart defects, associated with Turner’s syndrome.
Symptoms\: present 3-5 days after birth (duct closes).
Clinical features\: high systolic BP, absent femoral pulses, cold extremities, hepatomegaly (severe cases), murmur between
scapulae.
Investigations\: 2D echocardiogram, Doppler, CXR, ECG.
Management\: medical (prostaglandin E1, dopamine, dobutamine), surgical (balloon angioplasty, resection with end-to-end
anastomosis).
Cyanotic lesions (6 Ts)\: Tetralogy of Fallot, Transposition of great arteries, Truncus arteriosus, Total anomalous pulmonary
venous connection, Tricuspid valve abnormalities,
"Ton of others"
.
Tetralogy of Fallot\:
Features\: VSD, overriding aorta, pulmonary stenosis, RV hypertrophy.
Symptoms\: cyanosis, poor feeding, sweating during feeds.
Clinical
"tet" spells, murmur due to RVOTO.
Investigations\: 2D echocardiogram, Doppler, ECG, CXR ("boot-shaped heart"), cardiac catheterisation.
Management\: prostaglandin infusion, knee-to-chest position, oxygen, morphine, beta-blockers, digoxin, loop diuretic,
endocarditis prophylaxis, Blalock-Taussig shunt.
Transposition of the great arteries (TGA)\:
Features\: aorta from RV, pulmonary artery from LV.Symptoms\: cyanosis, poor feeding, sweating during feeds.
Investigations\: fetal ultrasound, echocardiogram, CXR ("egg on a string").
Management\: balloon atrial septostomy, arterial switch procedure.
Innocent murmurs\: Still’s murmur, venous hum, turbulent
Features of innocent murmur (10 S’s)\: soft, systolic, short, S1/S2 normal, symptomless, special test normal,
standing/sitting varies, sternal depression.
Still's murmur\: soft vibratory murmur at LLSB, common in childhood.
Venous hum\: continuous murmur over clavicles, varies with position.
Turbulent
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This article aims to provide a brief overview of congenital heart disease, including subtypes, clinical signs, investigations
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Acyanotic lesions

Acyanotic cardiac lesions include\:
Ventricular septal defects (VSD)
Atrial septal defects (ASD)
Patent ductus arteriosis (PDA)
Acyantoic cardiac lesions have the following features\:
Left to right shunting, mixing of oxygenated blood with deoxygenated blood
Increased pulmonary blood → risk of pulmonary hypertension and untreated acyanotic heart disease can lead to
Eisenmenger syndrome
Lesions that are above the level of the nipple usually give rise to ejection systolic murmurs while lesions below the level
of the nipple typically cause pan systolic murmurs
Ventricular septal defect (VSD)
Symptoms
Symptoms di
Small - may be asymptomatic, normal growth
Moderate - poor feeding, failure to thrive (FTT), short of breath (SOB)
Large - poor feeding, FTT (falls below centiles), SOB, sweaty and pale with feeds
Epidemiology
Most common congenital heart lesion (15-20%)
Associated with Down’s syndrome (AVSD)
Time of presentation
Antenatal diagnosis at 16-18 weeks
Presentation at 6-8 weeks
Congestive heart failure typically presents after 4-6 weeks
Persistent pulmonary hypertension of the newborn (PPHN) may become established by 6-12 months
Clinical
Palpate\:
Check for the presence of a thrill
Might be useful to palpate the liver (enlarged in heart failure)Auscultate\:
Pan-systolic murmur heard loudest at the lower left sternal border (LLSB)
Typically grade 3-4
Loud P2 suggests the presence of pulmonary hypertension
Investigations
Pulse oximetry - to determine the level of oxygen saturation
Echocardiography - visualise defect directly
CXR - cardiomegaly and pulmonary oedema (increased pulmonary vascular markings) if severe VSD (presence of heart
failure), enlarged pulmonary artery
ECG\:
In patients with moderate or large VSD, the ECG may demonstrate LV hypertrophy (LVH) manifesting as increased
voltage in V5 and V6 or leads II, III, and aVF
In patients with elevated RV pressure, the ECG demonstrates RV hypertrophy (RVH), often manifesting as tall R waves
in leads V4R and V1, or upright T waves in these leads beyond the
Management
Small lesion\: \< 5mm usually close spontaneously, no repair required (30-40%)
Moderate lesion\:
Diuretic therapy (furosemide and spironolactone)
Feeding with high caloric feeds (Infantrini)
Large lesion\:
Manage as per moderate lesion
Optimise weight gain for surgery
Schedule for surgery before 12 months to prevent persistent pulmonary hypertension of the newborn (PPHN)
Atrial septal defect
Symptoms
Typically asymptomatic
Some children will have recurrent chest infections
Epidemiology
Second most common acyanotic heart lesion (5-10%)
Time of presentation
The mean age of diagnosis is 4.5 years from an incidental
Symptomatic presentation is usually before the age of 40 years with arrhythmias, dyspnoea
Clinical features
May also have no auscultatory
Auscultate\:
Ejection systolic murmur heard loudest at the upper-left sternal border (ULSB)
Widely → R shunting increases RV
and pulmonary valve closure is delayed for a signi

Investigations

Pulse oximetry
ECHO - visualise defect directly, shows dilated RV and increased RV
CXR - usually no
ECG - incomplete RBBB
Management
Most children are asymptomatic and rarely require congestive heart failure (CHF) therapy
Spontaneous closure in lesions smaller than 7-8mm
Large defects require repair - percutaneous (catheter closure) or surgery using median sternotomy incisionPatent ductus arteriosus
Symptoms
Dependent on the size of the lesion\:
Small - asymptomatic
Moderate - congestive heart failure with failure to thrive (poor feeding)
Large - poor feeding, severe failure to thrive, recurrent lower respiratory tract infections (preterm infants may experience
failure to wean from ventilation)
Epidemiology
5-10% of all congenital heart defects
Very common in preterm infants
Time of presentation
Symptoms usually present 3-5 days after birth when the duct begins to close
Clinical features
Palpate\:
Might be useful to palpate the liver (enlarged in heart failure)
Bounding pulses and wide pulse pressure
Auscultate\:
Continuous machinery murmur typically heard at the upper-left sternal border (best heard below left the clavicle)
Check for the presence of a thrill at the upper left sternal border
Investigations
2D echocardiography and Doppler
CXR and ECG are less useful in diagnosing PDA
Management
If preterm - good probability of spontaneous closure
If term - less likely to close spontaneously
Medical - indomethacin/ibuprofen (not e
Surgical - catheter closure or PDA ligation (left lateral thoracotomy incision) when weight is at least 5kg
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Out

Pathophysiology
Obstruction to the left ventricles out
ventricular hypertrophy
Neonates with severe aortic coarctation can develop heart failure
Epidemiology
Approximately 5% of all congenital heart defects
Associated with Turner’s syndrome (5-15% of girls with coarctation)
Time of presentation
Symptoms present 3-5 days after birth when the duct begins to close as the PDA and foramen ovale allows blood to
bypass the out
Clinical features
Palpate\:
Systolic blood pressure is high when measured with BP cu
Absent femoral pulses (do 4-limb BP measurement)Cold extremities (especially feet)
Hepatomegaly in heart failure due to severe coarctation
Auscultate\:
Murmur heard at the back between the scapulae
Investigations
2D echocardiogram and Doppler - direct visualisation of defect
CXR and ECG are less useful in the diagnosis
Management
Medical therapy\:
Continuous intravenous infusion of prostaglandin E1 to keep the ductus arteriosus open
Dopamine or Dobutamine to improve contractility in those with heart failure
Supportive care to correct metabolic acidosis, hypoglycemia, respiratory failure, and anaemia that may contribute to or
be a consequence of heart failure
Surgical repair\:
Balloon angioplasty
Resection with end-to-end angioplasty
Bypass graft
Subclavian

Cyanotic lesions (6 Ts)

Occur due to the mixing of deoxygenated blood with oxygenated blood (right → left shunt).
Di
Tetralogy of Fallot
Transposition of great arteries
Truncus arteriosus
Total anomalous pulmonary venous connection
Tricuspid valve abnormalities
Ton of others - hypoplastic left heart, double outlet right ventricle, pulmonary atresia
Tetralogy of Fallot
Tetralogy of Fallot features the following four abnormalities\:
1. Ventricular septal defect
2. Overriding aorta
3. Pulmonary stenosis
4. Right ventricular hypertrophy
Symptoms
Cyanosis
Poor feeding
Sweating during feeds
Epidemiology
7-10% of congenital heart disease
Time of presentation
During the neonatal period when the patent ductus arteriosus begins to close (day 3-5)
Clinical
Cyanotic “tet” spells due to increased RV to LV shunt due to pulmonary stenosis causing RV out
and not VSD. The murmur is crescendo-decrescendo with a harsh ejection systolic quality, heard loudest over the
upper-left sternal angle with posterior radiation.
Investigations
2D echocardiogram and Doppler - to assess location and number of VSDs and severity of RVOTO
ECG - shows right atrial enlargement and right ventricular hypertrophy (right axis deviation, prominent R waves anteriorly
and S waves posteriorly)
CXR - classic “boot-shaped heart”
, with a right aortic arch seen in 25% of patients
Cardiac catheterisation can help further delineate cardiac lesion, particularly helpful for assessing levels of right
ventricular out
Management
surgical repair
Neonates with severe cyanosis\: prostaglandin infusion to maintain patency of ductus and pulmonary
Medical\:
Tet spells\:
circulation
Knee to chest position to increase systemic vascular resistance and promote blood
Oxygen
Morphine
B-blockers
Heart failure\: digoxin and loop diuretic (furosemide)
Prophylaxis for endocarditis\: antibiotics
Surgical repair - Blalock-Taussig shunt
Transposition of the great arteries
Pathophysiology
The aorta arises from the RV and pulmonary artery from the LV, resulting in deoxygenated blood from the RV being
circulated around the body
Symptoms
Cyanosis
Poor feeding, sweating during feeds
Epidemiology
TGA accounts for about 3% of all congenital heart disease, and 20% of all cyanotic heart disease
Without treatment, 90% will die within the
Time of presenation
During neonatal period when the patent ductus arteriosus begins to close (day 3-5)
Clinical
Cyanosis
Tachypnea
Murmur
Investigations
Fetal ultrasound
Echocardiogram
CXR - classic “egg on a string” appearance
ECG and cardiac catheterisation is typically not used in the diagnosis of TGA
Management
Balloon atrial septostomy to increase mixing of the two circulatory systems
Arterial switch procedureInnocent murmurs
Types
Still’s murmur
Venous hum
Turbulent
Epidemiology
25% of full-term neonates have a murmur
Features of an innocent murmur (10 ‘S’)
10 ‘S’ of innocent murmur\:
Soft
Systolic
Short
S1 and S2 normal
Symptomless
Special test (X-ray and ECG) normal
Standing/sitting vary with position
Sternal depression
Still's murmur
A soft vibratory murmur heard over the lower-left sternal border most frequently in childhood when there is normal blood

Venous hum
Continuous murmur heard loudest over the clavicles due to venous return from the head and neck, and this varies with
position.
Turbulent
A soft ejection systolic murmur caused by turbulent
branches are small.

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