摘要:
先天性心脏病(congenital heart disease, CHD)是胎儿时期心脏血管发育异常所致的心血管畸形，也是最常见的新生儿畸形之一，其发病率约占出生活产婴儿的约1%。先天性心脏病也是儿童死亡的主要原因之一。已有的研究发现遗传因素在CHD发病中具有很重要的作用。NKX2.5是一个重要的心脏转录因子，在心脏的早期发育和成体心脏的维护中均起很重要的作用。已有较多研究报道NKX2.5基因突变导致房间隔缺损(atrial septal defect, ASD)、室间隔缺损(ventricular septal defect, VSD)和房室传导阻滞(atrioventricular block, AVB)等CHD表型产生。突变的NKX2.5的转录活性、DNA结合活性和核定位等功能发生改变，并影响NKX2.5下游基因的表达。我们将主要论述NKX2.5和CHD的关系，讨论NKX2.5突变引起CHD发生的可能机制。
Abstract:
Congenital heart defects (CHDs) are cardiovascular malformations formed during fetal period. It’s the commonest malformation for the newborns. The morbidity is about 1% in all the live birth infants. CHD is also a common disease that leads to children death. Previous studies have confirmed that genetics play an important role in the development of CHD. NKX2.5 is a cardiac transcriptional factor and plays a pivotal role in heart early development and maintenance of adult hearts. Plenty of studies have reported that NKX2.5 mutations lead to atrial septal defect, ventricular septal defect and atrioventricular block. Functional analysis identified that the transcriptional activity, DNA-binding activity and nuclear localization of the NKX2.5 mutant proteins have been changed. The expression of the downstream genes regulated by NKX2.5 can also be changed. Here, we will focus on the relationship of NKX2.5 and CHD, discussing partial molecular mechanisms of CHD.