{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T14:47:21Z","timestamp":1787582841565,"version":"build-2736575974"},"reference-count":35,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,3,5]],"date-time":"2022-03-05T00:00:00Z","timestamp":1646438400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2022,5]]},"abstract":"Abstract<\/jats:title>Introduction\/Aims<\/jats:title>There is debate about whether and to what extent either respiratory or cardiac dysfunction occurs in patients with dysferlinopathy. This study aimed to establish definitively whether dysfunction in either system is part of the dysferlinopathy phenotype.<\/jats:p><\/jats:sec>Methods<\/jats:title>As part of the Jain Foundation's International Clinical Outcome Study (COS) for dysferlinopathy, objective measures of respiratory and cardiac function were collected twice, with a 3\u2010y interval between tests, in 188 genetically confirmed patients aged 11\u201386\u2009y (53% female). Measures included forced vital capacity (FVC), electrocardiogram (ECG), and echocardiogram (echo).<\/jats:p><\/jats:sec>Results<\/jats:title>Mean FVC was 90% predicted at baseline, decreasing to 88% at year 3. FVC was less than 80% predicted in 44 patients (24%) at baseline and 48 patients (30%) by year 3, including ambulant participants. ECGs showed P\u2010wave abnormalities indicative of delayed trans\u2010atrial conduction in 58% of patients at baseline, representing a risk for developing atrial flutter or fibrillation. The prevalence of impaired left ventricular function or hypertrophy was comparable to that in the general population.<\/jats:p><\/jats:sec>Discussion<\/jats:title>These results demonstrate clinically significant respiratory impairment and abnormal atrial conduction in some patients with dysferlinopathy. Therefore, we recommend that annual or biannual follow\u2010up should include FVC measurement, enquiry about arrhythmia symptoms and peripheral pulse palpation to assess cardiac rhythm. However, periodic specialist cardiac review is probably not warranted unless prompted by symptoms or abnormal pulse findings.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.27524","type":"journal-article","created":{"date-parts":[[2022,2,18]],"date-time":"2022-02-18T12:36:40Z","timestamp":1645187800000},"page":"531-540","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Cardiac and pulmonary findings in dysferlinopathy: A 3\u2010year, longitudinal study"],"prefix":"10.1002","volume":"65","author":[{"given":"Ursula","family":"Moore","sequence":"first","affiliation":[{"name":"The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute Newcastle University and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Fernandez\u2010Torron","sequence":"additional","affiliation":[{"name":"The John 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Translational Science, Division of Biostatistics and Study Methodology Children's National Health System Washington District of Columbia USA"},{"name":"Pediatrics, Epidemiology and Biostatistics George Washington University Washington District of Columbia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2941-7988","authenticated-orcid":false,"given":"Jordi","family":"Diaz\u2010Manera","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Raras (CIBERER) Barcelona Spain"},{"name":"Neuromuscular Disorders Unit, Neurology Department Hospital de la Santa Creu i Sant Pau Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8078-7744","authenticated-orcid":false,"given":"Meredith K.","family":"James","sequence":"additional","affiliation":[{"name":"The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute Newcastle University and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna G.","family":"Mayhew","sequence":"additional","affiliation":[{"name":"The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute Newcastle University and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Harris","sequence":"additional","affiliation":[{"name":"The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute Newcastle University and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Guglieri","sequence":"additional","affiliation":[{"name":"The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute Newcastle University and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura E.","family":"Rufibach","sequence":"additional","affiliation":[{"name":"The Jain Foundation Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia","family":"Feng","sequence":"additional","affiliation":[{"name":"Center for Translational Science, Division of Biostatistics and Study Methodology Children's National Health System Washington District of Columbia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew M.","family":"Blamire","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute, Newcastle University Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre G.","family":"Carlier","sequence":"additional","affiliation":[{"name":"University Paris\u2010Saclay, CEA, DRF, Service Hospitalier Frederic Joliot Orsay France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Spuler","sequence":"additional","affiliation":[{"name":"Charite Muscle Research Unit, Experimental and Clinical Research Center, a joint cooperation of the Charit\u00e9 Medical Faculty and the Max Delbr\u00fcck Center for Molecular Medicine Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John W.","family":"Day","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurological Sciences Stanford University School of Medicine Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristi J.","family":"Jones","sequence":"additional","affiliation":[{"name":"The Children's Hospital at Westmead, and The University of Sydney Westmead New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana X.","family":"Bharucha\u2010Goebel","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's National Health System Washington District of Columbia USA"},{"name":"National Institutes of Health (NINDS) Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Salort\u2010Campana","sequence":"additional","affiliation":[{"name":"Service des maladies neuromusculaire et de la SLA, H\u00f4pital de La Timone Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Pestronk","sequence":"additional","affiliation":[{"name":"Department of Neurology Washington University School of Medicine St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maggie C.","family":"Walter","sequence":"additional","affiliation":[{"name":"Friedrich\u2010Baur\u2010Institute, Department of Neurology Ludwig\u2010Maximilians\u2010University of Munich Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Paradas","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurology Hospital U. Virgen del Roc\u00edo\/Instituto de Biomedicina de Sevilla Seville Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Stojkovic","sequence":"additional","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence des maladies neuromusculaires, Institut de Myologie, AP\u2010HP, Sorbonne Universit\u00e9, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madoka","family":"Mori\u2010Yoshimura","sequence":"additional","affiliation":[{"name":"Department of Neurology National Center Hospital, National Center of Neurology and Psychiatry Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Bravver","sequence":"additional","affiliation":[{"name":"Neuroscience Institute, Carolinas Neuromuscular\/ALS\u2010MDA Center, Carolinas HealthCare System Charlotte North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Pegoraro","sequence":"additional","affiliation":[{"name":"Department of Neuroscience University of Padova Padua Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda Pax","family":"Lowes","sequence":"additional","affiliation":[{"name":"The Abigail Wexner Research Institute at Nationwide Children's Hospital Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerry R.","family":"Mendell","sequence":"additional","affiliation":[{"name":"The Abigail Wexner Research Institute at Nationwide Children's Hospital Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Bushby","sequence":"additional","affiliation":[{"name":"The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute Newcastle University and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"The Jain COS Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Bourke","sequence":"additional","affiliation":[{"name":"Department of Cardiology Freeman Hospital, NUTH NHS Hospitals Foundation Trust Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9046-3540","authenticated-orcid":false,"given":"Volker","family":"Straub","sequence":"additional","affiliation":[{"name":"The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute Newcastle University and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,3,5]]},"reference":[{"key":"e_1_2_10_2_1","volume-title":"GeneReviews\u00ae","author":"Aoki 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G","year":"2019","journal-title":"Heart"}],"container-title":["Muscle & 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