先天性房室间隔缺损的遗传学进展

Genetics progress on atrioventricular septal defect

先天性房室间隔缺损（atrioventricular septal defect，AVSD）是一种常见的心血管畸形，由于存在房室间隔（房间隔下部、窒间隔上部）以及中央心内膜垫组织的缺损，造成左右心腔之间的异常交通。虽然AVSD的胚胎学、病理生理学以及诊断和治疗目前都已基本阐明，但其确切的发病机制仍无突破性进展。随着分子生物学技术的广泛应用以及分子遗传学研究的深入开展，AVSD在遗传学的研究中取得一系列新进展，一些基因被证实与AVSD的发生发展存在一定的相关性。

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 artiete is to review and discuss genetic mechanisms and related genes of AVSD, and to further identify the major genes causing AVSD.