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Article

SCN5A R814W-Associated Multifocal Ventricular Ectopy and Dilated Cardiomyopathy: A Treatable Channelopathy.

Journal of cardiovascular electrophysiology - 1 Mar 2026

Bernardo Marta Catarina, Moreira Isabel Martins, Guimarães José Pedro, Margato Renato, Borges Sara, Carvalho Sofia Silva, Moreira José Ilídio

Abstract excerpt

INTRODUCTION: Multifocal ectopic Purkinje-related premature contractions (MEPPC) is a syndrome caused by gain-of-function SCN5A variants, characterized by multifocal ventricular ectopy and dilated cardiomyopathy (DCM). METHODS AND RESULTS: We report a case of a 63-year-old woman with longstanding DCM and a high burden of multifocal premature ventricular contractions arising from the His-Purkinje system,...

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Action Potentials
Anti-Arrhythmia Agents
Cardiomyopathy, Dilated
Channelopathies
NAV1.5 Voltage-Gated Sodium Channel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Treatment Outcome

Ventricular Function, Left

Source

Identifiers

PMID: 41556255
DOI: 10.1111/jce.70238

Genes

SCN5A

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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SCN5A R814W-Associated Multifocal Ventricular Ectopy and Dilated Cardiomyopathy: A Treatable Channelopathy.PMID 41556255Read ↗

Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.Semantic proximity Read ↗

A novel gain-of-function mutation in SCN5A responsible for multifocal ectopic Purkinje-related premature contractions.Semantic proximity Read ↗

Successful Use of Ranolazine in SCN5A p.R222Q-Related Multifocal Ectopic Purkinje-Related Premature Contractions.Semantic proximity Read ↗

Case report: an underdiagnosed multifocal ectopic Purkinje-related premature contractions caused by SCN5A mutation.Semantic proximity Read ↗

Novel SCN5A gene mutation in a patient affected by multifocal ectopic premature Purkinje-related contractions syndrome.Semantic proximity Read ↗

SCN5A Cardiomyopathy: from Ion Channel Dysfunction To Clinical Disease.Semantic proximity Read ↗

The G213D variant in Nav1.5 alters sodium current and causes an arrhythmogenic phenotype resulting in a multifocal ectopic Purkinje-related premature contraction phenotype in human-induced pluripotent stem cell-derived cardiomyocytes.Semantic proximity Read ↗

Arrhythmic Phenotypes Are a Defining Feature of Dilated Cardiomyopathy-Associated SCN5A Variants: A Systematic Review.Semantic proximity Read ↗

Multifocal Ectopic Purkinje Premature Contractions due to neutralization of an <i>SCN5A</i> negative charge: structural insights into the gating pore hypothesisSemantic proximity Read ↗

Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report.Semantic proximity Read ↗

Gain-of-function mutation of the SCN5A gene causes exercise-induced polymorphic ventricular arrhythmias.Semantic proximity Read ↗

Multifocal Ectopic Purkinje-Related Premature Contractions Syndrome in R222Q-SCN5A Gene Mutation Carriers Treated With Flecainide.Semantic proximity Read ↗

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