Hypertrophic cardiomyopathy caused by filamin-C variants has restrictive and extracardiac features and a distinctive ECG.

doi:10.1016/j.hrthm.2026.01.054

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Article

Hypertrophic cardiomyopathy caused by filamin-C variants has restrictive and extracardiac features and a distinctive ECG.

Heart rhythm - 1 Jun 2026

de Villiers Carin, Ormondroyd Elizabeth, Thomson Kate, Ormerod Julian O M, Sarwar Rizwan, Waring Adam, Bagnall Richard D, Sparrow Alexander, Steeples Violetta, Blair Edward, Buchan Rachel J, Bueno-Orovio Alfonso, Dent Timothy, Farrall Martin, Harper Andrew R, Hastings Robert, Jones Samuel, Krishnan Neesha, Lise Stefano, Pagnamenta Alistair T, Salatino Silvia, Seed Lydia, Taylor Jenny C, Weintraub Robert G, West Dominique, Ware James S, Ingles Jodie, Semsarian Christopher, Watkins Hugh

Abstract excerpt

BACKGROUND: Filamin-C (FLNC) gene variants are associated with cardiac and skeletal muscle diseases including a clear role of loss-of-function variants in dilated cardiomyopathy. OBJECTIVE: This study aimed to assess the contribution of rare FLNC variants to hypertrophic cardiomyopathy (HCM)/restrictive cardiomyopathy (RCM). METHODS: Family-based studies in 2 specialist services and statistical modeling of rare...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41672210
DOI: 10.1016/j.hrthm.2026.01.054

Genes

FLNC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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