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Received:July 25, 2023 Published Online:June 20, 2024
Received:July 25, 2023 Published Online:June 20, 2024
中文摘要: 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。
Abstract: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.
keywords: Congenital heart disease, isolated Genetics Single gene Copy number variation Mosaicism Chromosomal microarray analysis Whole-exome sequencing
文章编号: 中图分类号:R725.4 R394 文献标志码:A
基金项目:广西壮族自治区卫生健康委员会自筹经费科研课题(Z-J20221800)
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