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自发冠状动脉解剖的遗传学:一个范围审查

Sahar Memar Montazerin^1,2, Shakiba Hassanzadeh³, Homa Najafi¹

¹Beth Israel Deaconess Medical Center, Harvard Medical School.

Journal of cardiovascular medicine (Hagerstown, Md.)

|June 25, 2024

概括

遗传异常,特别是在COL和TLN1基因中,与自发冠状动脉剖析 (SCAD) 有关. 虽然基因测试可能对SCAD的诊断收益率很低,但这篇评论指导临床医生识别相关遗传性疾病.

科学领域:

心血管遗传学心血管遗传学
医学遗传学医学遗传学
分子心脏病学分子心脏病学

背景情况:

自发冠状动脉解剖 (SCAD) 是一种复杂的疾病,具有潜在的遗传基础.
遗传异常越来越多地与SCAD的病理生理学有关.
了解SCAD的遗传情景对于诊断和管理至关重要.

研究的目的:

系统地审查和总结有关SCAD和遗传异常之间的关联的现有证据.
为了确定SCAD患者经常报告的特定基因和突变.
探索SCAD和其他心血管疾病之间的遗传重叠.

主要方法:

在PubMed,Embase Ovid和Google Scholar进行了全面的文献搜索,搜索到2023年5月之前发表的研究.
包括注册表,队列研究和详细介绍SCAD诊断和遗传分析的病例报告.
基于特定的标准,研究被排除在外,包括评论,评论和动物研究.

主要成果:

确定了55项涉及116名SCAD患者的研究,这些患者具有遗传异常.
在COL基因 (20%) 和TLN1基因 (13.7%) 中的突变是最常见的.
15个已识别的基因也与胸前大动脉疾病有关,这表明有共同的遗传途径.

结论:

本综述汇编了与SCAD相关的遗传条件和基因,提供蛋白质和临床特征信息.
对于没有指示性临床特征的SCAD患者,基因研究的诊断收益率很可能很低,这使得例行查有争议.
此资源有助于临床医生识别与SCAD相关的综合征和非综合征遗传性疾病.

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