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遗传性心律失常综合征——心脏遗传学。

Inherited arrhythmia syndromes - Cardiogenetics.

作者信息

Tuijnenburg Fenna, Amin Ahmad S, Wilde Arthur A M

机构信息

Department of Experimental Cardiology, Heart Center, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.

Department of Clinical Cardiology, Heart Center, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence, and Complex Diseases of the Heart (ERN GUARD-Heart), the Netherlands.

出版信息

Indian Pacing Electrophysiol J. 2025 Jul-Aug;25(4):255-262. doi: 10.1016/j.ipej.2025.07.004. Epub 2025 Jul 22.

Abstract

The inherited arrhythmia syndromes long QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia are rare cardiac channelopathies associated with a higher risk for malignant arrhythmias and sudden cardiac death. Adequate and timely clinical management of patients remains a challenge and is often based on expert opinions and (small) cohort studies. Particularly, identification of high-risk patients continues to be difficult due to limitations in diagnostic tools and risk prediction models. Importantly, underlying causes determining the large variability in disease severity, even within families, are still unknown. A combination of rare variants in causal genes associated with the arrhythmia syndromes, non-genetic factors (i.e. age, sex) and genetic modifiers (i.e. single nucleotide polymorphisms) are thought to be of influence on the clinical phenotype and variability. Although, our knowledge regarding these rare arrhythmia syndromes has grown over the past decades, there are still gaps in knowledge that remain to be elucidated. In this review, we aim to provide an overview of the current knowledge and guidance for the clinical management of the three main arrhythmia syndromes.

摘要

遗传性心律失常综合征,如长QT综合征、 Brugada综合征和儿茶酚胺能多形性室性心动过速,是罕见的心脏离子通道病,与恶性心律失常和心源性猝死风险较高相关。对患者进行充分、及时的临床管理仍然是一项挑战,且往往基于专家意见和(小规模)队列研究。特别是,由于诊断工具和风险预测模型的局限性,识别高危患者仍然困难。重要的是,即使在家族内部,决定疾病严重程度存在巨大差异的潜在原因仍然未知。与心律失常综合征相关的致病基因中的罕见变异、非遗传因素(即年龄、性别)和遗传修饰因子(即单核苷酸多态性)的组合被认为会影响临床表型和变异性。尽管在过去几十年里,我们对这些罕见心律失常综合征的认识有所增加,但仍存在有待阐明的知识空白。在本综述中,我们旨在概述这三种主要心律失常综合征的现有知识并为其临床管理提供指导。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a702/12461729/a450d6cdad8c/gr1a.jpg

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