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A congenital cardiac malformation where there is an abnormal communication between the right and left ventricles.
A congenital cardiac malformation where there is an abnormal communication between the right and left ventricles.
Risk Factors
Trisomy 21 (Down syndrome), Trisomy 18
Maternal diabetes, fetal alcohol syndrome
Teratogen exposure – retinoic acid
1º relative with congenital heart disease
Associated with other congenital heart anomalies (e.g. Tetralogy of Fallot)
Aetiology
Incomplete closure of the interventricular septum during fetal development
Can occur as an isolated lesion or as part of more complex syndromes
May be muscular, membranous, inlet or outlet in location
Pathophysiology
Left-to-right shunt due to higher LV pressure
↑ pulmonary blood flow, pulmonary hypertension if large and uncorrected
Volume overload of left heart → LA and LV dilation
Over time, can reverse shunt (Eisenmenger’s syndrome) causing cyanosis
Diagnosis
Small VSD may be asymptomatic
Large VSD presents in infancy with signs of heart failure – poor feeding, tachypnoea, failure to thrive
Pansystolic murmur at left lower sternal edge
Possible mid-diastolic murmur at apex (↑ flow across mitral valve)
Hepatomegaly, recurrent respiratory infections
Differential Diagnosis
ASD
Patent ductus arteriosus (PDA)
AVSD (atrioventricular septal defect)
Tetralogy of Fallot
Pulmonary stenosis
Infantile cardiomyopathy
Investigations
Echocardiography – diagnostic; visualises defect and shunt
ECG – biventricular hypertrophy if large VSD
CXR – cardiomegaly, ↑ pulmonary markings
Cardiac catheterisation – if planning surgical repair or assessing pulmonary vascular resistance
Management
Small, asymptomatic VSD – monitor for spontaneous closure
Moderate-large VSD with heart failure – diuretics (e.g. furosemide), ACE inhibitors (e.g. captopril), high-calorie feeds
Surgical closure – typically before 1 year if failure to thrive or pulmonary hypertension
Catheter-based closure – for muscular VSDs in select cases
Complications & Prognosis
Heart failure
Failure to thrive
Pulmonary hypertension → Eisenmenger’s
Endocarditis risk – prophylaxis needed in specific settings
Aortic regurgitation (if VSD near aortic valve)
Residual or recurrent shunt after repair
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