Congenital heart disease (CHD), cardiomyopathy, and vasculopathies are common causes
of mortality and morbidity in pediatrics, including the perinatal period. This article reviews
evidence that single gene defects cause many of the pediatric heart diseases.
Vasculopathies discussed include Marfan's syndrome, supravalvar aortic stenosis and
Williams' syndrome, Alagille's syndrome, and hereditary telangiectasia, the Osler-Weber-
Rendu syndrome. Genetic causes of hypertrophic cardiomyopathy caused by sarcomeric …