先天性心脏病(CHDs)是我国最常见的一种出生缺陷,其潜在的病因至今未明。近年来,一些科学研究和临床诊断试验表明基因拷贝数变异(CNVs)已成为先天性遗传性疾病的一个重要因素,例如该病因在单纯性先心病中约占3%~10%。然而,拷贝数变异在单纯性CHDs形成中的遗传机制尚不明确。因此本文就CNVs与单纯性CHDs关系的研究进展作一综述。 Congenital heart disease (CHDs) is one of the most common birth defects in China, and the underlying causes are still unknown. In recent years, some scientific studies and clinical diagnostic tests have shown that gene copy number variation (CNVs) has become an important factor in congenital hereditary diseases, such as the cause of simple congenital heart disease accounts for about 3% to 10%. However, the genetic mechanism of copy number variation in the formation of simple CHDs is not clear. Therefore, this article reviews the research progress of the relationship between CNVs and simple CHDs.