孤立型先天性心脏病的遗传学病因  

Genetic causes of isolated congenital heart disease

作　　者：潘宏贵 谢睿彬 龙启海 朱行美 PAN Honggui;XIE Ruibin;LONG Qihai;ZHU Xingmei(Hezhou Maternal and Child Health Hospital,Hezhou,Guangxi 542899,China)

机构地区：[1]贺州市妇幼保健院,广西贺州542899

出　　处：《中国临床研究》2024年第6期830-834,共5页Chinese Journal of Clinical Research

基　　金：广西壮族自治区卫生健康委员会自筹经费科研课题(Z-J20221800)。

摘　　要：先天性心脏病(CHD)的遗传机制复杂且目前对其缺乏确切的了解。文献中有关CHD的报道通常合并有心外畸形,但绝大多数CHD为孤立型,仅表现为单一的心脏畸形,其病因机制尚不十分确切,且遗传学机制更难以阐明,加之目前针对孤立型CHD的病例研究极少,缺乏相关的系统深入的研究数据,因此阐明孤立型CHD患者的遗传学病因并为其进一步的临床治疗提供指导是CHD领域具有重要研究价值的课题之一。本文回顾了孤立型先天性心脏病目前已知的遗传学病因及潜在的遗传学机制,以及对孤立型CHD患者进行遗传学检测的建议。The genetic mechanism of congenital heart disease(CHD)is complex and currently lacks a clear understanding.Literature studies on CHD often report the presence of concurrent extracardiac anomalies,but since the majority of CHD cases are isolated,presenting only a single cardiac malformation,the etiological mechanisms remain uncertain,especially regarding the genetic aspects.Furthermore,there is a scarcity of case studies focusing on isolated CHD,resulting in a lack of comprehensive research data.Therefore,elucidating the genetic causes of isolated CHD and providing guidance for its clinical treatment holds significant research value in the field of CHD.This article reviews the known genetic causes and potential genetic mechanisms of isolated CHD,as well as provides recommendations for genetic testing in patients with isolated CHD.

关 键 词：先天性心脏病 孤立型 遗传学 单基因 拷贝数变异 嵌合体 染色体微阵列分析 全外显子组测序 

分 类 号：R725.4[医药卫生—儿科] R394[医药卫生—临床医学]