Clinical features: Congenital heart diseases are abnormalities of the heart's structure and function caused by abnormal or disordered heart development before birth. The majority of congenital heart diseases are of unknown aetiology with generally low recurrence risks. Some are due to single gene disorders or chromosome abnormalities and these must be excluded, particularly if other problems, in addition to the cardiac lesion, are present in a child.
Incidence: 8 per 1,000 births.
Inheritance : Multifactorial inheritance (90%). Empiric recurrence risks and offspring risks are available for specific anatomical diagnoses but where there is a recurrence, it may be of a different defect which can be of greater or lesser severity. Single gene disorders (3%), chromosomal disorders (5%) and environmental factors (2%).
Prenatal diagnosis: Mid-trimester detailed fetal echocardiography is possible but may be difficult.
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