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Cardiac and pulmonary findings in dysferlinopathy: a 3-year, longitudinal study

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Item Type:Article
Title:Cardiac and pulmonary findings in dysferlinopathy: a 3-year, longitudinal study
Creators Name:Moore, U. and Fernandez-Torron, R. and Jacobs, M. and Gordish, H. and Diaz-Manera, J. and James, M.K. and Mayhew, A.G. and Harris, E. and Guglieri, M. and Rufibach, L.E. and Feng, J. and Blamire, A.M. and Carlier, P.G. and Spuler, S. and Day, J.W. and Jones, K.J. and Bharucha-Goebel, D.X. and Salort-Campana, E. and Pestronk, A. and Walter, M.C. and Paradas, C. and Stojkovic, T. and Mori-Yoshimura, M. and Bravver, E. and Pegoraro, E. and Lowes, L.P. and Mendell, J.R. and Bushby, K. and Bourke, J. and Straub, V.
Abstract:INTRODUCTION/AIMS: There is debate about whether and to what extent either respiratory or cardiac dysfunction occur 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 three-year interval between tests, in 188 genetically confirmed patients aged 11-86 years (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 three. FVC was less than 80% predicted in 44 patients (24%) at baseline and 48 patients (30%) by year three, 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.
Keywords:Cardiac, Dysferlin, Limb Girdle Muscular Dystrophy R2, Miyoshi Myopathy, Respiratory
Source:Muscle & Nerve
Page Range:531-540
Date:May 2022
Official Publication:https://doi.org/10.1002/mus.27524
PubMed:View item in PubMed

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