THE EPIDEMIOLOGY AND GENETICS OF CONGENITAL HEART DISEASE

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EPIDEMIOLOGY

Multiple epidemiologic studies on CHD have been performed. The studies vary substantially in design and use different pathologic descriptions, complicating their interpretation. In addition, most predate the use of echocardiography, so that misdiagnosis of complex defects and underdiagnosis of mild defects most likely occurred. The Baltimore-Washington Infant Study has more recently provided extensive information on the epidemiology of CHD. A population-based, case-control study conducted from

GENETIC CAUSES

Epidemiologic studies and reports of familial disease suggest that inherited traits contribute to the development of CHD. In addition, CHD is a cardinal feature of multiple genetic syndromes that are often associated with specific chromosomal anomalies. Finally, recent studies demonstrate that isolated or syndromic CHD can be associated with single gene defects. Evidence suggests that genetic factors play a critical role in the development of CHD, even in sporadic cases. The most recent

SUMMARY

The studies summarized demonstrate that CHD is a common, major malformation. The genetic cause of each specific lesion is heterogeneous. In addition, different types of CHD can result from the same chromosomal alteration or from mutations in the same gene. Although one might predict that genotype influences clinical outcome, further studies are required. At this time, routine clinical diagnostic tests to identify the specific genetic cause are available in only a few cases, namely, those with

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    Address reprint requests to Elizabeth Goldmuntz, MD, Division of Cardiology, The Children's Hospital of Philadelphia, 702A Abramson Research Center, 3516 Civic Center Boulevard, Philadelphia, PA 19104–4318; e-mail: [email protected]

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