Congenital cardiovascular malformations: an intersection of human geneticsand developmental biology

The practice of pediatric cardiology is poised to benefit from dramatic dev elopments in human genetics and developmental biology. While clinicians hav e long known that congenital cardiovascular malformations arise as a result of disruption of the developmental process, it has taken decades to define the mechanisms. The combination of epidemiology, models of cardiovascular development in vertebrates, and the unprecedented understanding of the huma n genome has lead to new insights into ideology and pathogenesis. Expanded knowledge of Down's syndrome, cono-truncal defects, abnormalities of situs and looping, and Marfan syndrome, William's syndrome, and supravalvar aorti c stenosis, Holt-Gram syndrome and Alagille syndrome, will allow clinical c ardiologists to answer more precisely the three questions posed by parents: (1) will our child be all right; (2) what caused our child's heart defect; and (3) what about our other children and our grandchildren? This is the p romise of the intersection of human genetics, developmental biology, and cl inical pediatric cardiology. (C) 1999 Elsevier Science Ireland Ltd. All rig hts reserved.