CRELD1基因在房室间隔缺损中的研究进展

Progress in CRELD1 gene on atrioventricular septal defect

先天性心脏病是一系列对心功能产生实际或潜在影响的先天性畸形,其发病率在活产婴儿.中可达4‰～12‰.房室间隔缺损（AVSD）是一种累及房室瓣和间隔的常见先天性心脏病,包括完全性AVSD到二尖瓣裂缺等一系列类型.AVSD常见于21-三体综合征.遗传和环境因素共同作用于心脏发育的不同环节导致心内膜垫的发育缺陷从而出现不同类型的AVSD.CRELD1是第一个明确的、与AVSD发病相关的基因,关于它的研究对揭示AVSD发病机制及防治有重要意义.

Congenital heart disease（CHD） is a series of birth defect that can actually or potentially impact heart function , occurring 4‰～ 12‰ of live birth. Atrioventricular septal defect （AVSD） is a frequently CHD affecting the atrioventricular valves and septa. AVSD refers to a clinical spectrum of defects ranging from a complete AVSD to cleft mitral valve. AVSD occurs most frequently in Trisomy 21 syndrome. Research shows that the development defect of endocardial cushion caused by heredity and environment during different period of heart development leads to all kinds of AVSD. CRELD1 is the first identified gene associated with morbidity of AVSD.The research on this gene has important significance to find out the pathogenesis of AVSD and provide better prevention and cure methods.