Publication: Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.
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Identifiers
Date
2022-04-20
Authors
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
Advisors
Journal Title
Journal ISSN
Volume Title
Publisher
John Wiley & Sons, Inc.
Abstract
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. 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). 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. 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.
Description
MeSH Terms
Electrocardiography
Female
Humans
Longitudinal Studies
Male
Muscular Dystrophies, Limb-Girdle
Phenotype
Female
Humans
Longitudinal Studies
Male
Muscular Dystrophies, Limb-Girdle
Phenotype
DeCS Terms
Pacientes
Pulso arterial
Electrocardiografía
Arritmias cardíacas
Aleteo atrial
Especialización
Prevalencia
Palpación
Hipertrofia
Pulso arterial
Electrocardiografía
Arritmias cardíacas
Aleteo atrial
Especialización
Prevalencia
Palpación
Hipertrofia
CIE Terms
Keywords
Miyoshi myopathy, cardiac, dysferlin, limb girdle muscular dystrophy R2, respiratory
Citation
Moore U, Fernandez-Torron R, Jacobs M, Gordish-Dressman H, Diaz-Manera J, James MK, et al. Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study. Muscle Nerve. 2022 May;65(5):531-540.