Complex story of the genetic origins of pediatric heart disease.

Pediatric heart disease, aka cardiovascular disease in the young, comprises varied phenotypes, including cardiovascular malformations, cardiomyopathies, vasculopathies (eg, Marfan syndrome), and cardiac arrhythmias. Cardiovascular malformations are a major component of pediatric heart disease and constitute a substantial portion of clinically significant birth defects, with a definition-dependent estimated incidence of 4 to 50 per 1000 live births.1,2 Despite advances in diagnosis and therapy, the morbidity and mortality associated with cardiovascular malformations and other forms of pediatric heart disease make them important clinical problems. Thus, there has been considerable interest in understanding their cause.