Clinical manifestations and complications of congenital heart disease
THE CONTEXT
Clinical findings depend on the anatomical lesion, the direction of shunting, vascular resistance and associated congenital conditions.
General findings and early diagnosis
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Symptoms may be absent, or a child may have breathlessness and impaired growth or development. Some defects cause neonatal death because they are incompatible with extrauterine life.
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Murmurs, thrills and signs of cardiomegaly may be present.
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Coarctation of the aorta may produce radio-femoral delay, and some affected female patients have features of Turner syndrome. Features of Marfan syndrome or Down syndrome may also be apparent.
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Severe cyanotic congenital disease may be complicated by cerebrovascular events or cerebral abscesses.
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Early diagnosis preserves the opportunity for surgery; irreversible pulmonary hypertension is an example of a secondary change that can remove this opportunity.
Central cyanosis and clubbing
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Cardiac central cyanosis occurs when desaturated blood reaches the systemic circulation without passing through the lungs, producing a right-to-left shunt.
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In neonates, the most common cause is transposition of the great arteries. The passage describes the aorta arising from the right ventricle and the pulmonary artery from the left ventricle, in association with a ventricular septal defect.
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In older children, cyanosis usually results from a ventricular septal defect combined with severe pulmonary stenosis, as in tetralogy of Fallot, or pulmonary vascular disease, as in Eisenmenger syndrome.
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Chronic cyanosis is associated with clubbing of the fingers and toes.
Growth and cerebral function
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Growth retardation and learning difficulties may occur with large left-to-right shunts at ventricular or great arterial level, and with other defects, particularly those forming part of a genetic syndrome.
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Major intellectual impairment is uncommon in isolated congenital heart disease, although minor learning difficulties can occur.
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Compromised cerebral perfusion during cardiac surgery can affect cerebral function.
Syncope
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Exercise may provoke syncope when pulmonary vascular resistance is increased or there is severe left or right ventricular outflow obstruction.
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The described mechanism is a fall in systemic vascular resistance with a rise in pulmonary vascular resistance, worsening right-to-left shunting and cerebral oxygenation.