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Article

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

BMC cardiovascular disorders - 24 Mar 2026

Cao Weiping, Ban Chao, Wang Xi, Liu Xuehui, Zhao Zhuoran, Yang Zixuan, Zhang Qing, Jiang Wanxiang, Kang Yu, Chen Shi

Abstract excerpt

Multifocal Ectopic Purkinje-related Premature Contractions (MEPPC) syndrome is a recently recognized rare channelopathy caused by gain-of-function mutations in the SCN5A gene, leading to a high burden of premature ventricular contractions (PVCs) originating from the Purkinje system and often manifesting as a dilated cardiomyopathy-like phenotype. This case report presents a young woman without structural heart...

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Action Potentials
Anti-Arrhythmia Agents
DNA Mutational Analysis
Flecainide
Gain of Function Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

NAV1.5 Voltage-Gated Sodium Channel

Treatment Outcome

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Identifiers

PMID: 41877019
DOI: 10.1186/s12872-026-05570-w
PMCID: PMC13134305

Genes

SCN5A

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

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Case report: an underdiagnosed multifocal ectopic Purkinje-related premature contractions caused by SCN5A mutation.PMID 41877019Read ↗

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