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 Na(v)1.5 channel. Here we present a severe case of cardiac sodium channelopathy...

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Detalles Bibliográficos
Autores principales: Nijak, Aleksandra, Labro, Alain J., De Wilde, Hans, Dewals, Wendy, Peigneur, Steve, Tytgat, Jan, Snyders, Dirk, Sieliwonczyk, Ewa, Simons, Eline, Van Craenenbroeck, Emeline, Schepers, Dorien, Van Laer, Lut, Saenen, Johan, Loeys, Bart, Alaerts, Maaike
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396896/
https://www.ncbi.nlm.nih.gov/pubmed/32850980
http://dx.doi.org/10.3389/fcvm.2020.00117

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