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Article

A Novel SCN5A Missense Variant Associated With Familial Non-Dilated Left Ventricular Cardiomyopathy.

Clinical genetics - 1 Apr 2026

Castiglione Vincenzo, Logiacco Annalisa, Barison Andrea, Vittorini Simona, Botto Nicoletta, Emdin Michele, Todiere Giancarlo

Abstract excerpt

We report a novel SCN5A missense variant (c.655C>T (p.Arg219Cys)) in a family with non-dilated left ventricular cardiomyopathy, broadening the spectrum of SCN5A-related structural cardiac diseases. The proband, a 35-year-old man, presented with embolic stroke and myocardial fibrosis in the absence of ventricular dilation. He exhibited a significant arrhythmic burden, including premature ventricular complexes and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41093748
DOI: 10.1111/cge.70092

Genes

SCN5A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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