Genetics progress on atrioventricular septal defect

Atrioventricular septal defect (AVSD) is a common cardiovascular malformation because of atrioventricular septal (lower atrial septum, ventricular septal upper) and the endocardial cushion defect,resulting in abnormal chambers of the heart. At the present, although the embryology, pathophysiology,diagnosis and treatment of the AVSD are clarified, but its precise pathogenesis has still no breakthrough progress.With the wide application of molecular biology and the depth research of molecular genetics, a series of new progress about AVSD has been made in the genetic study, and some genes are confirmed to be related to the occurrence and development of AVSD. The aim of this article is to review and discuss genetic mechanisms and related genes of AVSD, and to further identify the major genes causing AVSD. Key words: Atrioventricular septal defect;  21-trisomy syndrome;  CRELD1;  GATA-4;  Gene