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

Pathogenic FLNC variants in patients with HCM/RCM are nontruncating and cause a discrete phenotype comprising a characteristic ECG, hypertrophic and restrictive features without hypercontractility, and extracardiac abnormalities.

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Publication Details

Journal
Heart Rhythm
Published
2026-02-01
DOI
https://doi.org/10.1016/j.hrthm.2026.01.054
Primary Topic
Cardiomyopathy and Myosin Studies
Type
article
Field-Weighted Citation Impact
0.00

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article

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

Violetta Steeples, Adam Waring, Dominique M West, Julian OM Ormerod et al.
Heart Rhythm
Cardiomyopathy and Myosin Studies
article

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

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

Abstract

Pathogenic FLNC variants in patients with HCM/RCM are nontruncating and cause a discrete phenotype comprising a characteristic ECG, hypertrophic and restrictive features without hypercontractility, and extracardiac abnormalities.

Heart Rhythm
The University of Sydney (AU), Royal Children's Hospital (AU), Garvan Institute of Medical Research (AU), Stellenbosch University (ZA), Royal Prince Alfred Hospital (AU), Royal Brompton & Harefield NHS Foundation Trust (GB), Centenary Institute (AU), Cambridge University Hospitals NHS Foundation Trust (GB), Sydney Hospital (AU), UNSW Sydney (AU), University of Oxford (GB), London Cancer (GB), Oxford BioMedica (United Kingdom) (GB), Oxford University Hospitals NHS Trust (GB), MRC London Institute of Medical Sciences (GB), University College London (GB)
Wellcome Trust, National Institute for Health and Care Research, British Heart Foundation, Department of Health and Social Care, Imperial College London, NSW Ministry of Health, NIHR BioResource, Medical Research Council, National Health and Medical Research Council, NIHR Oxford Biomedical Research Centre
Openalex Percentile: Top 63%
Cardiomyopathy and Myosin Studies
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