Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study

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...

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Veröffentlicht in:	Muscle & Nerve Jg. 65; H. 5; S. 531 - 540
Hauptverfasser:	Moore, Ursula, Fernandez‐Torron, Roberto, Jacobs, Marni, Gordish‐Dressman, Heather, Diaz‐Manera, Jordi, James, Meredith K., Mayhew, Anna G., Harris, Elizabeth, Guglieri, Michela, Rufibach, Laura E., Feng, Jia, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha‐Goebel, Diana X., Salort‐Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori‐Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Lowes, Linda Pax, Mendell, Jerry R., Bushby, Kate, Bourke, John, Straub, Volker
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	Hoboken, USA Wiley 01.05.2022 John Wiley & Sons, Inc Wiley Subscription Services, Inc
Schlagworte:	Abnormalities Arrhythmia Cardiac Clinical Clinical Research Articles Clinical s Conduction Dysferlin Echocardiography EKG Electrocardiography Female Fibrillation Flutter Function and Dysfunction of the Nervous System Humans Hypertrophy Integrative Biomedicine [Topic 3] Limb girdle muscular dystrophy R2 Longitudinal Studies Male Miyoshi myopathy Miyoshi myopathy; cardiac; dysferlin; limb girdle muscular dystrophy R2; respiratory; Electrocardiography; Female; Humans; Longitudinal Studies; Male; Phenotype; Muscular Dystrophies, Limb-Girdle Muscular Dystrophies, Limb-Girdle Muscular Dystrophies, Limb-Girdle - genetics Patients Phenotype Phenotypes Respiratory Ventricle limb girdle muscular dystrophy R2 respiratory dysferlin Miyoshi myopathy cardiac
ISSN:	0148-639X, 1097-4598, 1097-4598
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Zusammenfassung:	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.
Bibliographie:	Deceased John Bourke and Volker Straub joint last author ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23
ISSN:	0148-639X 1097-4598 1097-4598
DOI:	10.1002/mus.27524