Genetic epidemiology of cardiovascular malformations

Pediatric heart disease includes an array of structural and functional abnormalities ranging from cardiovascular malformations (CVMs; also known as congenital heart defects, CHDs) to cardiomyopathy, tissue dysplasia, and disorders of rhythm. This review focuses on CVMs, an extremely important group of birth defects, because of their frequent occurrence (birth prevalence slightly less that one out of a hundred), contribution to morbidity and mortality (one-third of infant deaths due to congenital anomalies), association with additional anomalies (one-fourth), and frequent presentation in malformation syndromes. As such, they represent a familiar public health concern. There has been tremendous progress in the medical and surgical treatment of CVMs. Current research pursues genetic epidemiology (the interplay of genetic and environmental factors), molecular determinants, and prevention by folic acid-containing multivitamins.