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

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Title: Hypertrophic cardiomyopathy caused by filamin-C variants has restrictive and extracardiac features and a distinctive ECG.
Authors: de Villiers C; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom; Department of Physiological Sciences, Faculty of Science, Stellenbosch University, Stellenbosch, South Africa., Ormondroyd E; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom; Oxford NIHR Biomedical Research Centre, Oxford, United Kingdom., Thomson K; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom; Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Ormerod JOM; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom; Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Sarwar R; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom; Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Waring A; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom., Bagnall RD; Agnes Ginges Centre for Molecular Cardiology Centenary Institute, The University of Sydney, Sydney, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia., Sparrow A; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom., Steeples V; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom., Blair E; Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Buchan RJ; National Heart and Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London, United Kingdom; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; MRC Laboratory of Medical Sciences, London, United Kingdom., Bueno-Orovio A; Department of Computer Science, University of Oxford, Oxford, United Kingdom., Dent T; Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Farrall M; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom., Harper AR; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom., Hastings R; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Jones S; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom., Krishnan N; Centre for Population Genomics, Garvan Institute of Medical Research, and University of New South Wales Sydney, Sydney, Australia., Lise S; University College London Cancer Institute, London, United Kingdom., Pagnamenta AT; Oxford NIHR Biomedical Research Centre, Oxford, United Kingdom., Salatino S; Oxford NIHR Biomedical Research Centre, Oxford, United Kingdom., Seed L; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom., Taylor JC; Oxford NIHR Biomedical Research Centre, Oxford, United Kingdom., Weintraub RG; Department of Cardiology, Royal Children's Hospital, Melbourne, Australia; Dpartment of Paediatrics, University of Melbourne, Australia., West D; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom., Ware JS; National Heart and Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London, United Kingdom; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; MRC Laboratory of Medical Sciences, London, United Kingdom., Ingles J; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia; Centre for Population Genomics, Garvan Institute of Medical Research, and University of New South Wales Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia., Semsarian C; Agnes Ginges Centre for Molecular Cardiology Centenary Institute, The University of Sydney, Sydney, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia., Watkins H; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom; Oxford NIHR Biomedical Research Centre, Oxford, United Kingdom. Electronic address: hugh.watkins@rdm.ox.ac.uk.
Corporate Authors: WGS500 Consortium; Author affiliations in the Supplemental Appendix.
Source: Heart rhythm [Heart Rhythm] 2026 Jun; Vol. 23 (6), pp. 1289-1299. Date of Electronic Publication: 2026 Feb 09.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 101200317 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1556-3871 (Electronic) Linking ISSN: 15475271 NLM ISO Abbreviation: Heart Rhythm Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Hypertrophic cardiomyopathy caused by filamin-C variants has restrictive and extracardiac features and a distinctive ECG.
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  Data: <searchLink fieldCode="AU" term="%22de+Villiers+C%22">de Villiers C</searchLink>; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom; Department of Physiological Sciences, Faculty of Science, Stellenbosch University, Stellenbosch, South Africa.<br /><searchLink fieldCode="AU" term="%22Ormondroyd+E%22">Ormondroyd E</searchLink>; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom; Oxford NIHR Biomedical Research Centre, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Thomson+K%22">Thomson K</searchLink>; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom; Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ormerod+JOM%22">Ormerod JOM</searchLink>; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom; Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Sarwar+R%22">Sarwar R</searchLink>; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom; Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Waring+A%22">Waring A</searchLink>; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Bagnall+RD%22">Bagnall RD</searchLink>; Agnes Ginges Centre for Molecular Cardiology Centenary Institute, The University of Sydney, Sydney, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Sparrow+A%22">Sparrow A</searchLink>; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Steeples+V%22">Steeples V</searchLink>; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Blair+E%22">Blair E</searchLink>; Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Buchan+RJ%22">Buchan RJ</searchLink>; National Heart and Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London, United Kingdom; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; MRC Laboratory of Medical Sciences, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Bueno-Orovio+A%22">Bueno-Orovio A</searchLink>; Department of Computer Science, University of Oxford, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Dent+T%22">Dent T</searchLink>; Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Farrall+M%22">Farrall M</searchLink>; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Harper+AR%22">Harper AR</searchLink>; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Hastings+R%22">Hastings R</searchLink>; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Jones+S%22">Jones S</searchLink>; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Krishnan+N%22">Krishnan N</searchLink>; Centre for Population Genomics, Garvan Institute of Medical Research, and University of New South Wales Sydney, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Lise+S%22">Lise S</searchLink>; University College London Cancer Institute, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Pagnamenta+AT%22">Pagnamenta AT</searchLink>; Oxford NIHR Biomedical Research Centre, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Salatino+S%22">Salatino S</searchLink>; Oxford NIHR Biomedical Research Centre, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Seed+L%22">Seed L</searchLink>; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Taylor+JC%22">Taylor JC</searchLink>; Oxford NIHR Biomedical Research Centre, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Weintraub+RG%22">Weintraub RG</searchLink>; Department of Cardiology, Royal Children's Hospital, Melbourne, Australia; Dpartment of Paediatrics, University of Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22West+D%22">West D</searchLink>; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ware+JS%22">Ware JS</searchLink>; National Heart and Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London, United Kingdom; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; MRC Laboratory of Medical Sciences, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ingles+J%22">Ingles J</searchLink>; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia; Centre for Population Genomics, Garvan Institute of Medical Research, and University of New South Wales Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Semsarian+C%22">Semsarian C</searchLink>; Agnes Ginges Centre for Molecular Cardiology Centenary Institute, The University of Sydney, Sydney, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Watkins+H%22">Watkins H</searchLink>; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom; Oxford NIHR Biomedical Research Centre, Oxford, United Kingdom. Electronic address: hugh.watkins@rdm.ox.ac.uk.
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  Data: <searchLink fieldCode="JN" term="%22101200317%22">Heart rhythm</searchLink> [Heart Rhythm] 2026 Jun; Vol. 23 (6), pp. 1289-1299. <i>Date of Electronic Publication: </i>2026 Feb 09.
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