Genetic basis of congenital heart disease

Purpose of review Although the care of infants and children with congenital heart defects has been revolutionized over the past 50 years, their underlying causes have been obscure. Recent progress, accelerated through the Human Genome Project, has resulted in the rapid identification of disease genes causing congenital heart defects. Recent findings In this review, progress in identifying new congenital heart defect genes for specific lesions and in understanding their disease pathogenesis in the past year are detailed. Specifically, genes relevant for atrial and atrioventricular septal defects, patent ductus arteriosus, bicuspid aortic valve, and coarctation of the aorta as well as pulmonary valvar and branch stenosis are reviewed. Summary The information in this review provides insights into the state-of-the-art knowledge about the molecular genetic causes of congenital heart defects. It suggests that DNA testing may become standard for many forms of congenital heart defects, improving clinicians' ability to anticipate complications for their patients and predict recurrence risk for families of children with congenital heart defects.