Genetic counseling for congenital heart disease: new approaches for a new decade

Congenital heart disease (CHD), which occurs in about 0.7% of all live-born children, is the leading cause of death from birth defects. Understandably, parents of patients, and increasingly patients themselves, are interested in the risk that further offspring will be affected. Advances in genetics now permit accurate estimation for many forms of CHD, especially the identification of patients and families with recurrence risks of up to 50%. The increased availability of genetic information, combined with the use of noninvasive imaging to look for subtle defects and targeted genetic testing, have demonstrated that the relevant question to ask about an individual's apparently isolated CHD is whether it is syndromic or familial. Syndromes that involve clinically important noncardiac findings may best be managed by, or in consultation with, a clinical geneticist. Other familial syndromes remain entirely within the purview of the cardiologist. The practicing cardiologist needs to continue to stay abreast of genetic discoveries in the field of CHD in order to provide proper management, including genetic counseling, to patients and their families.