Compound Heterozygous SCN5A Mutations in Severe Sodium Channelopathy With Brugada Syndrome: A Case Report

Compound Heterozygous SCN5A Mutations in Severe Sodium Channelopathy With Brugada Syndrome: A Case Report

Aims: Brugada syndrome (BrS) is an inherited cardiac arrhythmia with an increased risk for sudden cardiac death (SCD). About 20% of BrS cases are explained by mutations in the SCN5A gene, encoding the main cardiac sodium Nav1.5 channel. Here we present a severe case of cardiac sodium channelopathy w...

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Bibliographic Details
Main Authors: Aleksandra Nijak, Alain J. Labro, Hans De Wilde, Wendy Dewals, Steve Peigneur, Jan Tytgat, Dirk Snyders, Ewa Sieliwonczyk, Eline Simons, Emeline Van Craenenbroeck, Dorien Schepers, Lut Van Laer, Johan Saenen, Bart Loeys, Maaike Alaerts
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-07-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
Brugada syndrome
cardiac arrhythmia
SCN5A
case report
compound heterozygosity
Online Access:https://www.frontiersin.org/article/10.3389/fcvm.2020.00117/full

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https://www.frontiersin.org/article/10.3389/fcvm.2020.00117/full

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