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青少年心肌梗塞样心肌炎:探索从诊断到随访的遗传见解

Roger Esmel-Vilomara¹, Lucía Riaza², Paola Dolader³

¹Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain; Pediatric Cardiology, Vall d'Hebron Hospital Campus, Barcelona, Spain; Pediatric Cardiology, Hospital de la Santa Creu i Sant Pau, Sant Pau Research Institute (IR Sant Pau), Barcelona, Spain.

International journal of cardiology

|April 17, 2025

概括

在青少年心脏病发作类心肌炎中,遗传变异很常见,特别是在特定的成像模式下. 对这些患者来说,基因检测和长期监测至关重要.

科学领域:

心脏病学心脏病学
遗传学遗传学是一个
儿科医学儿科医学

背景情况:

肌心炎通常是获得的,但遗传因素越来越被认可,特别是在严重的病例中.
有限的数据存在于对儿科心脏病类似心肌炎的遗传贡献.
这项研究调查了患有心肌梗塞样心肌炎的青少年的致病性/可能致病性 (P/LP) 变异.

研究的目的:

为了确定P/LP变体在患有心脏病发作样心肌炎的青少年中的患病率.
探索遗传发现与临床/成像特征之间的关联.
评估基因鉴定患者的长期结果.

主要方法:

对30名患有心脏梗塞状心肌炎的青少年进行前性多中心研究 (2016-2024年).
通过使用心脏磁共振成像 (CMR) 的2018年路易斯湖标准证实了诊断.
通过下一代测序小组进行基因检测 (174个遗传性心脏病基因);12个月的随访CMR.

主要成果:

在22.2%的患者中发现了致病性/可能致病性变体.
在CMR上的环状晚期加多增强 (LGE) 模式与遗传发现有显著的关联 (p=0.025).
基因阳性患者的复发性心肌炎 (66.7%对23.8%) 和持续性CMR异常在12个月后的比率更高.

结论:

发作性心肌炎中P/LP变异的高患病率需要进行基因检测,特别是与环状LGE或隔膜干扰有关的基因检测.
在基因阳性病例中持续的CMR异常和复发需要长期监测.
遗传因素在儿科心脏梗塞样心肌炎中起着重要作用,影响预后.

关键词:

青少年青少年青少年心脏磁共振是一种心脏磁共振.遗传学遗传学是一个这是一种类似于心脏病的发作.肌肉性心脏炎是一种心肌炎.

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