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 (

SUBMITTER: Moore U 

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

REPOSITORIES: biostudies-literature