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先天性心脏病是胚胎发育过程中存在心血管结构或功能异常的一类疾病,是胎儿时期心血管系统发育异常、发育障碍或出生后未能退化所造成的心血管畸形,但其具体发病机制仍未阐明.法洛四联症是先天性心脏病中最严重的类型之一,包括室间隔缺损、主动脉骑跨、肺动脉狭窄和右心室肥厚.近年来的多项研究显示遗传因素参与了法洛四联症的发生,部分基因突变与法洛四联症的发生有很大关系,其中NKX2-5、GATA4、TBX5及TBX20已被证实与法洛四联症高度相关.该文主要围绕上述4个基因的研究进展,阐述法洛四联症的病因及发病机制.“,”Congenital heart disease (CHD) is a class of cardiovascular malformation caused by abnormal development of cardiovascular system,developmental disorders,or degenerative tissue which should be degenerated after birth during embryonic development,and tetralogy of Fallot is one of the most serious types of CHD,including ventricular septal defect (VSD),overriding aorta (OA),pulmonic stenosis (PS) and right ventricular hypertrophy (RVH).Up to now,a series of clinical evidence shows that genetic factors have been involved in the occurrence of TOF,and some gene mutations are associated with the occurrence of TOF,of which NKX2-5,GATA4,TBX5 and TBX20 have been confirmed to be highly correlated with TOE Based on the existing research results,this paper expounds the relationship between etiology and pathogenesis of tetralogy of Fallot and the mutations of NKX2-5,GATA4,TBX5 and TBX20.