Case Report: Family Curse: An SCN5A Mutation, c.611C>A, p.A204E Associated With a Family History of Dilated Cardiomyopathy and Arrhythmia

ObjectiveWe report a 3-generation family with SCN5A c.611 C>A rare variant, whose clinical characteristics are dilated cardiomyopathy (DCM) combined with multifocal ectopic Purkinje-related premature contractions (MEPPC). We tried to explain why the same SCN5A variant carriers had different p...

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Main Authors: Wen Huang, Rui Xu, Ning Gao, Xia Wu, Cong Wen
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2022-05-01
Colecção:Frontiers in Cardiovascular Medicine
Assuntos:
SCN5A
PRKAG2
dilated cardiomyopathy
sudden cardiac death
familial case report
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fcvm.2022.822150/full
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