RT Journal Article
T1 Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.
A1 Moore, Ursula
A1 Fernandez-Torron, Roberto
A1 Jacobs, Marni
A1 Gordish-Dressman, Heather
A1 Diaz-Manera, Jordi
A1 James, Meredith K
A1 Mayhew, Anna G
A1 Harris, Elizabeth
A1 Guglieri, Michela
A1 Rufibach, Laura E
A1 Feng, Jia
A1 Blamire, Andrew M
A1 Carlier, Pierre G
A1 Spuler, Simone
A1 Day, John W
A1 Jones, Kristi J
A1 Bharucha-Goebel, Diana X
A1 Salort-Campana, Emmanuelle
A1 Pestronk, Alan
A1 Walter, Maggie C
A1 Paradas, Carmen
A1 Stojkovic, Tanya
A1 Mori-Yoshimura, Madoka
A1 Bravver, Elena
A1 Pegoraro, Elena
A1 Lowes, Linda Pax
A1 Mendell, Jerry R
A1 Bushby, Kate
A1 Bourke, John
A1 Straub, Volker
K1 Miyoshi myopathy
K1 cardiac
K1 dysferlin
K1 limb girdle muscular dystrophy R2
K1 respiratory
AB 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.
PB John Wiley & Sons, Inc.
YR 2022
FD 2022-04-20
LK http://hdl.handle.net/10668/22339
UL http://hdl.handle.net/10668/22339
LA en
NO 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.
DS RISalud
RD Apr 13, 2025