Advances in the study of susceptible genes related to tetralogy of Fallot

VernacularTitle:法洛四联症相关易感基因的研究进展
Author: Shuhuan FENG ¹
Author Information

1. 20025,上海交通大学基础医学院医学遗传学实验室
Keywords: Congenital heart disease; tetralogy of Fallot; Susceptibility gene
From: International Journal of Pediatrics 2018;45(8):597-600
CountryChina
Language:Chinese
Abstract: 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.