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先天性心脏病(CHD)是人类最常见的出生缺陷,也是婴幼儿死亡的首要原因。其具体的发病机制至今仍未完全清楚,但已证实其病因主要为环境因素、遗传因素以及两者的共同作用。CHD患者较普通人群更易出现染色体异常,其中最常见的是21-三体综合征,18-三体综合征,少部分的CHD患者的染色体异常为结构异常,主要表现为缺失、重复。本文就CHD与染色体异常的关系作一综述。
Congenital heart disease (CHD) is the most common birth defects in humans and is the leading cause of death in infants and young children. Its specific pathogenesis is still not fully understood, but it has been confirmed that the main causes of environmental factors, genetic factors and the combined effect of the two. CHD patients are more prone to chromosomal abnormalities than the general population, the most common of which is 21-trisomy syndrome, 18-trisomy syndrome, a small number of CHD patients with chromosomal abnormalities as structural abnormalities, mainly for the absence of duplication. This article reviews the relationship between CHD and chromosomal abnormalities.