Chinese Medical E-ournals Database

Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition) ›› 2017, Vol. 13 ›› Issue (05): 611 -615. doi: 10.3877/cma.j.issn.1673-5250.2017.05.020

Special Issue:

Review

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:

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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