Dataset Information

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

ABSTRACT:

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.

SUBMITTER: Moore U

PROVIDER: S-EPMC9311426 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature

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Publications

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

Moore Ursula U Fernandez-Torron Roberto R Jacobs Marni M Gordish-Dressman Heather H Diaz-Manera Jordi J James Meredith K MK Mayhew Anna G AG Harris Elizabeth E Guglieri Michela M Rufibach Laura E LE Feng Jia J Blamire Andrew M AM Carlier Pierre G PG Spuler Simone S Day John W JW Jones Kristi J KJ Bharucha-Goebel Diana X DX Salort-Campana Emmanuelle E Pestronk Alan A Walter Maggie C MC Paradas Carmen C Stojkovic Tanya T Mori-Yoshimura Madoka M Bravver Elena E Pegoraro Elena E Lowes Linda Pax LP Mendell Jerry R JR Bushby Kate K Bourke John J Straub Volker V

Muscle & nerve 20220305 5

<h4>Introduction/aims</h4>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.<h4>Methods</h4>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 tes ...[more]

PMID: 35179231

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Dataset Information

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

Introduction/aims

Methods

Results

Discussion

Publications

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

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