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中华妇幼临床医学杂志(电子版) ›› 2017, Vol. 13 ›› Issue (05) : 611 -615. doi: 10.3877/cma.j.issn.1673-5250.2017.05.020

所属专题: 文献

综述

先天性心脏病发病机制中遗传因素的研究进展
徐金玉1   
  1. 1. 100026 首都医科大学附属北京妇产医院超声医学科
  • 收稿日期:2017-05-14 修回日期:2017-08-07 出版日期:2017-10-01

Genetic factors in the pathogenesis of congenital heart disease: research progress

Jinyu Xu1   

  1. 1. Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China
  • Received:2017-05-14 Revised:2017-08-07 Published:2017-10-01
  • About author:
    Corresponding author: Wu Qingqing, Email:
引用本文:

徐金玉. 先天性心脏病发病机制中遗传因素的研究进展[J]. 中华妇幼临床医学杂志(电子版), 2017, 13(05): 611-615.

Jinyu Xu. Genetic factors in the pathogenesis of congenital heart disease: research progress[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2017, 13(05): 611-615.

先天性心脏病(CHD)是最常见的先天性出生缺陷,其发病率与病死率位居婴幼儿非感染性疾病的首位。CHD可分为非综合征性CHD和综合征性CHD。目前认为,CHD的发生主要与遗传因素、环境因素及多基因遗传相关,但CHD的发病机制复杂,并且仍未完全阐明。笔者拟就CHD发病机制中遗传因素的研究进展进行综述,旨在为CHD的预防和早期诊断提供理论基础。

Congenital heart disease (CHD) is the most common congenital birth defect. The morbidity and mortality of congenital heart disease rank first among the non-infectious diseases in infants. CHD can be divided into non-syndrome CHD and syndrome CHD. At present, CHD is mainly related to genetic factors, environmental factors and polygenic inheritance. However, the pathogenesis of CHD is complex and has not yet been fully elucidated. The author reviews the research progress of genetic factors in the pathogenesis of CHD, and aims to provide the theoretical basis for the prevention and early diagnosis of CHD.

表1 合并先天性心脏病的综合征及相关染色体核型及结构异常
表2 非综合征性先天性心脏病的相关突变基因
表3 合并先天性心脏病的综合征及相关致病基因
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