圆锥动脉干畸形（CTDs）是胚胎期心室流出道发育异常引起的一类复杂型先天性心脏畸形，是先天性心脏病 中较常见且出生后预后不良的一类疾病，严重危害儿童健康。近年来，国内外开展了大量针对CTDs的基因学研究。虽然 具体致病基因仍不明确，但在实验动物及患儿中已经筛选出相当数量的公认的候选基因。文章整理归纳CTDs相关候选基 因的研究结果，为CTDs的病因学研究提供参考。

　Conotruncal heart defects (CTDs) are complex congenital heart defects caused by abnormal development of ventricular outflow tract during embryonic period. They are common types of congenital heart disease and have poor prognosis after birth, which seriously endanger children’s health. In recent years, researchers at home and abroad have carried out a large amount of genetic study on CTDs. The specific disease-causing genes and their mechanism yet remain unknown, however, numbers of recognized candidate genes have been screened out from experimental animals and patients. The article focuses on summarizing researches on candidate gene mutations and provides reference for the etiology study of CTDs.