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.
Authors
- Violetta Steeples (ORCID: https://orcid.org/0000-0002-5468-460X)
- Adam Waring (ORCID: https://orcid.org/0000-0002-3590-2560)
- Dominique M West
- Julian OM Ormerod
- Lydia Seed (ORCID: https://orcid.org/0000-0001-9405-3688)
- Alexander J. Sparrow (ORCID: https://orcid.org/0000-0002-3354-3314)
- Silvia Salatino (ORCID: https://orcid.org/0000-0003-1286-3076)
- Timothy Dent
- Richard D. Bagnall (ORCID: https://orcid.org/0000-0002-2476-9864)
- 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
Institutions
- 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)
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
Funders
- 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