The many faces of SCN5A pathogenic variants: from channelopathy to cardiomyopathy.

IF 4.5 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS
Ioannis Vouloagkas, Andrea Agbariah, Thomas Zegkos, Thomas D Gossios, Georgios Tziomalos, Despoina Parcharidou, Matthaios Didagelos, Vasileios Kamperidis, Antonios Ziakas, Georgios K Efthimiadis
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引用次数: 0

Abstract

The SCN5A gene encodes the alpha subunit of the cardiac sodium channel, which plays a fundamental role in the generation and propagation of the action potential in the heart muscle. During the past years our knowledge concerning the function of the cardiac sodium channel and the diseases caused by mutations of the SCN5A gene has grown. Although initially SCN5A pathogenic variants were mainly associated with channelopathies, increasing recent evidence suggests an association with structural heart disease in the form of heart muscle disease. The pathways leading to a cardiomyopathic phenotype remain unclear and require further elucidation. The aim of the present review is to provide a concise summary regarding the mechanisms through which SCN5A pathogenic variants result in heart disease, focusing in cardiomyopathy, highlighting along the way the complex role of the SCN5A gene at the intersection of cardiac excitability and contraction networks.

SCN5A 致病变体的多面性:从通道病到心肌病。
SCN5A 基因编码心脏钠通道的α亚基,它在心肌动作电位的产生和传播过程中发挥着重要作用。在过去的几年中,我们对心脏钠通道的功能以及 SCN5A 基因突变引起的疾病有了更多的了解。虽然最初 SCN5A 致病变体主要与通道病有关,但最近越来越多的证据表明,它与以心肌病形式出现的结构性心脏病有关。导致心肌病表型的途径仍不清楚,需要进一步阐明。本综述旨在简明扼要地总结 SCN5A 致病变体导致心脏病的机制,重点是心肌病,同时强调 SCN5A 基因在心脏兴奋性和收缩网络交叉点上的复杂作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Heart Failure Reviews
Heart Failure Reviews 医学-心血管系统
CiteScore
10.40
自引率
2.20%
发文量
90
审稿时长
6-12 weeks
期刊介绍: Heart Failure Reviews is an international journal which develops links between basic scientists and clinical investigators, creating a unique, interdisciplinary dialogue focused on heart failure, its pathogenesis and treatment. The journal accordingly publishes papers in both basic and clinical research fields. Topics covered include clinical and surgical approaches to therapy, basic pharmacology, biochemistry, molecular biology, pathology, and electrophysiology. The reviews are comprehensive, expanding the reader''s knowledge base and awareness of current research and new findings in this rapidly growing field of cardiovascular medicine. All reviews are thoroughly peer-reviewed before publication.
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