History and exam

Key diagnostic factors

common

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 tachypnea 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 unoperated 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 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 unoxygenated 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]​​

Down syndrome (trisomy 21)

Between one third and one half of people with Down syndrome have congenital heart disease, most commonly atrioventricular septal defects or ventricular septal defects.[14][15]

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

Periconceptual maternal cigarette smoking (one month preconception until 3 months postconception) is associated with an increased risk of perimembranous ventricular septal defect and atrioventricular septal defect.[20]

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