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Article

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

Circulation. Genomic and precision medicine - 1 Feb 2022

Peters Stacey, Thompson Bryony A, Perrin Mark, James Paul, Zentner Dominica, Kalman Jonathan M, Vandenberg Jamie I, Fatkin Diane

Abstract excerpt

BACKGROUND: Variants in the SCN5A gene, that encodes the cardiac sodium channel, Nav1.5, are associated with a highly arrhythmogenic form of dilated cardiomyopathy (DCM). Our aim was to review the phenotypes, natural history, functional effects, and treatment outcomes of DCM-associated rare SCN5A variants. METHODS: A systematic review of reported DCM-associated rare SCN5A variants was undertaken using PubMed and...

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Identifiers

PMID: 34949099
DOI: 10.1161/CIRCGEN.121.003432

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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