History and exam
Key diagnostic factors
common
presence of risk factors
Risk factors include a family history of congenital heart defects, the presence of Down's syndrome, and maternal use of alcohol during pregnancy.
systolic murmur left parasternal region
This murmur is generally holosystolic and does not increase with inspiration (unlike tricuspid regurgitation).
The murmur is generally easily heard; a smaller defect generally results in a louder murmur.
faltering growth
Congenital heart disease should always be excluded in infants and children with unexplained faltering growth.
shortness of breath
Shortness of breath on exertion tends to occur in patients with a long-standing moderate-sized shunt. Infants may also have tachypnoea and shortness of breath with feeding and effort.
Other diagnostic factors
common
recurrent pulmonary infections
May be attributable to shunt reversal in patients with large un-operated defects, especially when accompanied by physical signs of finger clubbing and/or cyanosis.
loud pulmonary component of the second heart sound
A sign of pulmonary hypertension, which typically develops in cases of significant left-to-right shunt.
uncommon
cyanosis
Occurs in cases of shunt reversal (Eisenmenger's syndrome).[5]
The cause is a large uncorrected ventricular septal defect (VSD) shunt that produces severe pulmonary hypertension, increasing the right-heart pressure to the point that un-oxygenated blood is forced straight into the left heart and systemic circulation.
Decreased blood flow in the pulmonary circulation contributes further to the cyanosis.
finger clubbing
Finger clubbing is associated with a range of cyanotic congenital heart diseases, including ventricular septal defects (VSDs).
recent myocardial infarction (usually within 3 to 5 days)
A recent history of myocardial infarction may indicate an acquired ventricular septal defect (VSD).[6]
recent trauma
Rarely, a ventricular septal defect (VSD) can be caused by trauma.[1]
Risk factors
strong
family history of congenital heart disease
Congenital heart defects, including ventricular septal defects, are more likely in patients with a positive family history of such defects.[18]
weak
maternal alcohol consumption during pregnancy
Maternal alcohol use during pregnancy is associated with an increased incidence of congenital heart defects, including ventricular septal defect.[19]
maternal cigarette smoking during pregnancy
Peri-conceptual maternal cigarette smoking (one month pre-conception until 3 months post-conception) is associated with an increased risk of peri-membranous ventricular septal defect and atrioventricular septal defect.[20]
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