Dataset Information
Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related.
Ontology highlight
ABSTRACT:
Methods: Echocardiograms from 56 subjects (157 echocardiograms) with LGMDR9 were retrospectively reviewed. The cumulative probability of having an abnormal echocardiogram as a function of age was assessed by survival analysis for interval-censored data by genotype. Correlations between cardiac and clinical function were evaluated.
Results: Twenty-five (45%) participants had cardiomyopathy. The median age at first abnormal echocardiogram for subjects homozygous for the c.826C>A variant was 54.2 y compared to 18.1 y for all other fukutin-related protein (FKRP) genotypes (P
Discussion: Cardiomyopathy is prevalent among those with LGMDR9 and occurs later in subjects homozygous for the c.826C>A mutation. These data will help to guide surveillance and management.
SUBMITTER: Libell EM
PROVIDER: S-EPMC7693230 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Publications
Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related.
Muscle & nerve 20200910 5
<h4>Introduction</h4>Reported frequencies of cardiomyopathy in limb girdle muscular dystrophy R9 (LGMDR9) vary. We describe the frequency and age at onset of cardiomyopathy in an LDMDR9 cohort.<h4>Methods</h4>Echocardiograms from 56 subjects (157 echocardiograms) with LGMDR9 were retrospectively reviewed. The cumulative probability of having an abnormal echocardiogram as a function of age was assessed by survival analysis for interval-censored data by genotype. Correlations between cardiac and c ...[more]
