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Krista Heliö¹, Marcos Cicerchia², Julie Hathaway³

¹Heart and Lung Center, ERN GUARD-Heart Center, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.

Frontiers in cardiovascular medicine

|October 5, 2023

概括

基因组测试在24.6%的患者中诊断出扩张性心肌病 (DCM),确定了45个基因的致病变体. 这种方法是有效的诊断遗传的DCM,即使在复杂的情况下.

科学领域:

心血管遗传学心血管遗传学
分子心脏病学分子心脏病学
遗传诊断遗传诊断遗传诊断是一种

背景情况:

亲属扩张性心肌病 (DCM) 是心力衰竭的主要原因,通常以自体主导模式遗传.
在DCM中涉及60多个基因,影响体,细胞骨,核和线粒体蛋白质.
尽管已经建立了标准,但在基因检测后,超过50%的疑似DCM病例仍未被诊断出来.

研究的目的:

评估下一代测序 (NGS) 面板对遗传扩张性心肌病 (DCM) 的诊断产量.
在大量患者队列中识别与DCM相关的基因和变异.
确定与DCM分子诊断相关的临床因素.

主要方法:

对2088名疑似遗传性DCM患者进行遗传检测的回顾性审查.
利用NGS面板分析了23-316个心肌病相关基因.
分类变异为致病性 (P) 或可能致病性 (LP) 诊断.

主要成果:

在514名患者 (24.6%) 中实现了分子诊断,在45个基因中发现了534个P/LP变异.
最常涉及的基因是 *TTN* (45.3%), *DSP* (6.7%), *LMNA* (6.7%) 和 *MYH7* (5.2%).
与诊断相关的因素包括年轻的年龄,家族病史,心房动,缺少左捆支部阻塞,以及ICD的存在.

结论:

NGS小组测试表明,对于疑似遗传的DCM,具有显著的诊断产量.
在45个基因中确定了因果变异,很少有患者具有双重诊断变异.
推进行遗传小组,以诊断疑似遗传病因的DCM.

关键词:

心肌病性心脏病 - 心肌病性心脏病诊断收益率是指诊断收益率.扩张性心肌病症扩张性心肌病症基因检测基因检测是指基因检测.下一代测序的下一代测序.

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