单纯性先天性心脏病致病基因的研究进展

先天性心脏病(congenital heart disease,CHD)是胎儿时期心血管发育异常而导致的先天性畸形疾病,在新生儿非感染性死亡中占首位.其中约有80%仅表现为心脏畸形,而不伴有其他系统的先天异常,称之为单纯性先天性心脏病.近年来,用分子遗传学的手段来研究单纯性先天性心脏病的分子基础已经取得了较大进展,从而促进了其临床诊断及治疗方法的拓展.

Research progress on the virulence gene of simple congenital heart disease

Congenital heart disease (CHD) refers to malformation of the cardiovascular system that is present at or near the time of birth. These cardiovascnlar abnormalities are a leading cause of non-infective in-fant mortality. About 80% of these cardiovascular abnormalities are present with only cardiac anomalies and are defined as simple congenital heart disease. Molecular genetic approaches have been applied to the study of CHD and major advances have already been made in understanding of their etiology. These improvements promise the opportunity to develop new diagnostic and therapeutic strategies to CHD.