【摘要】 脊椎动物中左右体轴不对称发育异常是真性右位心发生的主要机制，其中基因调控网络及其上下游成员异常是其重要的致病因素，可导致右位心及其他内脏异位。右位心常伴多种异型综合征和复杂先天性心脏畸形，具有先天遗传性，预后不良。现针对基因调控网络及其上下游信号发生和放大的可能机制，综述右位心形成的相关假说，结合临床患者基因测序结果，提出其可能的致病基因：如纤毛相关蛋白基因(DNAH11、CCDC103和ANKS3)、基因调控网络相关基因(GDF1、CFC1、MMP21和ZIC3)及MEGF8等，以期为右位心基因筛查及临床早期干预提供依据。更多还原

【Abstract】 The left-right asymmetric development anomaly can be the chief mechanism of true dextrocardia in vertebrates.The abnormality of gene-regulatory network(GRN) and its upstream and downstream members is an important pathogenic factor, which can lead to dextrocardia and other heterotaxia.Dextrocardia is often associated with multiple heteromorphic syndromes and complex congenital heart malformations, which is congenital heredity and has a poor prognosis.This article reviews the relevant hypotheses of dextrocardium formation based on the GRN and its possible mechanisms of upstream and downstream signal generation and amplification, and proposes the possible pathogenic genes, such as ciliary related protein genes(DNAH11,CCDC103 and ANKS3),GRN-related genes(GDF1,CFC1,MMP21 and ZIC3) and MEGF8,in combination with the gene sequencing results of clinical patients, in order to provide a basis for gene screening and early clinical intervention of dextrocardia.更多还原