Cardiac and pulmonary findings in dysferlinopathy : A 3-year, longitudinal study
Moore, Ursula (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust)
Fernandez-Torron, Roberto (Biodonostia Osasun Ikerketako Institutura (País Basc))
Jacobs, Marni (Pediatrics. Epidemiology and Biostatistics. George Washington University)
Gordish-Dressman, Heather (Pediatrics. Epidemiology and Biostatistics. George Washington University)
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau)
James, Meredith K (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust)
Mayhew, Anna G. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust)
Harris, Elizabeth (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust)
Guglieri, Michela (Newcastle University)
Rufibach, Laura E. (The Jain Foundation)
Feng, Jia (Center for Translational Science. Division of Biostatistics and Study Methodology. Children's National Health System)
Blamire, Andrew (Translational and Clinical Research Institute. Newcastle University)
Carlier, Pierre G. (University Paris-Saclay. CEA. DRF. Service Hospitalier Frederic Joliot)
Spuler, Simone (Charite Muscle Research Unit. Experimental and Clinical Research Center. a joint cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine)
Day, John W (Stanford University School of Medicine)
Jones, Kristi J. (The Children's Hospital at Westmead. and The University of Sydney)
Bharucha-Goebel, Diana (National Institutes of Health (Bethesda, Estats Units d'Amèrica))
Salort-Campana, Emmanuelle (Service des maladies neuromusculaire et de la SLA. Hôpital de La Timone)
Pestronk, Alan (Washington University School of Medicine)
Walter, Maggie C. (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians-University of Munich)
Paradas, Carmen (Instituto de Biomedicina de Sevilla)
Stojkovic, Tanya (Sorbonne Université)
Mori-Yoshimura, Madoka (National Center of Neurology and Psychiatry Tokyo)
Bravver, Elena (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System)
Pegoraro, Elena (Department of Neuroscience. University of Padova)
Lowes, Linda Pax (The Abigail Wexner Research Institute at Nationwide Children's Hospital)
Mendell, Jerery R. (The Abigail Wexner Research Institute at Nationwide Children's Hospital)
Bushby, Kate (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust)
Bourke, John (Department of Cardiology. Freeman Hospital. NUTH NHS Hospitals Foundation Trust)
Straub, Volker (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust)

Data:	2022
Resum:	Introduction/Aims: 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. Methods: 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-y interval between tests, in 188 genetically confirmed patients aged 11-86 y (53% female). Measures included forced vital capacity (FVC), electrocardiogram (ECG), and echocardiogram (echo). Results: 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-wave abnormalities indicative of delayed trans-atrial 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. Discussion: These results demonstrate clinically significant respiratory impairment and abnormal atrial conduction in some patients with dysferlinopathy. Therefore, we recommend that annual or biannual follow-up 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.
Nota:	Altres ajuts: Jain Foundation.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Cardiac ; Dysferlin ; Limb girdle muscular dystrophy R2 ; Miyoshi myopathy ; Respiratory
Publicat a:	Muscle & nerve, Vol. 65 Núm. 5 (may 2022) , p. 531-540, ISSN 1097-4598

DOI: 10.1002/mus.27524
PMID: 35179231

10 p, 1.4 MB

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Documents de recerca > Documents dels grups de recerca de la UAB > Centres i grups de recerca (producció científica) > Ciències de la salut i biociències > Institut de Recerca Sant Pau
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