SCN5A 重叠综合征：一种开放思维的方法。

SCN5A overlap syndromes: An open-minded approach.

机构信息

Service of Cardiology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland; Department of Clinical-Surgical Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy.

l'Institut du thorax, Service de Cardiologie du CHU de Nantes, Hopital Nord, Nantes Cedex, France.

出版信息

Heart Rhythm. 2022 Aug;19(8):1363-1368. doi: 10.1016/j.hrthm.2022.03.1223. Epub 2022 Mar 26.

DOI:10.1016/j.hrthm.2022.03.1223

PMID:35351625

Abstract

SCN5A overlap syndromes are clinical entities that express a phenotype combining aspects of different canonical SCN5A-related arrhythmia syndromes or a variable arrhythmic phenotype among individuals carrying the same SCN5A mutation. Here we review the literature addressing SCN5A overlap syndromes as well as the principal mechanisms currently proposed. Among others, a multifactorial determination encompassing an interaction between SCN5A variant(s), other genetic polymorphisms, and possibly environmental factors seems the most plausible hypothesis.

摘要

SCN5A 重叠综合征是一种临床实体，表现为一种表型，结合了不同经典 SCN5A 相关心律失常综合征的方面，或携带相同 SCN5A 突变的个体中表现出不同的心律失常表型。在此，我们回顾了有关 SCN5A 重叠综合征的文献以及目前提出的主要机制。除其他外，多因素决定似乎是最合理的假设，其中包括 SCN5A 变体（多个）、其他遗传多态性以及可能的环境因素之间的相互作用。