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一卵双胞胎的多变性心肌病:一个病例报告,基因型和表型之间的不匹配

Manlio F Márquez-Murillo^1,2, Juan P Casillas-Muñoz¹, Carmen A Sánchez-Contreras¹

¹Department of Electrocardiology, National Institute of Cardiology Ignacio Chávez, Juan Badiano 1, Col. Belisario Domínguez-Sección XVI, Tlalpan, Mexico City 14080, Mexico.

European heart journal. Case reports

|December 12, 2025

概括

同卵双胞胎具有相同的高性心肌病 (HCM) 遗传突变,其疾病严重程度不同. 这表明非遗传因素影响双胞胎的HCM进展.

科学领域:

心血管遗传学心血管遗传学
双胞胎研究双胞胎研究
分子心脏病学分子心脏病学

背景情况:

增高性心肌病变 (HCM) 是一种主要的遗传性心肌疾病.
在双胞胎中,HCM是罕见的,即使在相同的基因型中也观察到不一致的表型.
仅仅是遗传因素并不能完全解释HCM的变异性.

研究的目的:

为了研究异调的超性心肌病 (HCM) 现象型在单胞胎双胞胎.
探索对HCM表达的潜在遗传,表观遗传和环境影响.
突出基因相同个体中HCM病原体的复杂性.

主要方法:

一个17岁的单胞胎-双胞胎双胞胎的病例报告,患有多变性心肌病 (HCM).
基因分析确定了MYH7基因 (c.1816G>A [p.Val606Met]) 中的一个共同致病变体.
临床评估比较心声回声学发现和疾病进展.

主要成果:

两个双胞胎都有相同的MYH7病原体变异.
观察到不一致的表型:一个双胞胎患有阻塞性基底前性HCM,另一个患有非阻塞性中性HCM.
多样化的临床过程:一个经历了非致命的突然心脏病死亡,另一个保持无症状.

结论:

同一种致病变体可以导致单胞胎双胞胎多种多样的超性心肌病 (HCM) 呈现和临床结果.
遗传和表观遗传因素,以及潜在的产前影响,如双胞胎对双胞胎输血综合征,可能会调节HCM.
环境和其他未经表征的因素在缩性心肌病 (HCM) 疾病进展中起着至关重要的作用.

关键词:

案例报告案例报告与HCM相关的病原性变异.双胞胎是单胞胎-双胞胎双胞胎.肌氨酸重链-7基因基因主要的过度缩性心肌病变.

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