Cardiomyopathy in limb girdle muscular dystrophy R9 , FKRP related

Autor: Benjamin E. Reinking, Bridget Zimmerman, Katherine D. Mathews, Katie M. Laubscher, Erik R Edens, Carrie M. Stephan, Eric M Libell, Shelley R. H. Mockler, Benton Y Ng, Julia A Richardson, Katie Lutz
Rok vydání: 2020
Předmět:
muscular dystrophy
Adult
Male
0301 basic medicine
medicine.medical_specialty
Adolescent
Genotype
Abnormal echocardiogram
Physiology
Cardiomyopathy
030105 genetics & heredity
03 medical and health sciences
Cellular and Molecular Neuroscience
0302 clinical medicine
Physiology (medical)
Internal medicine
dystroglycanopathy
medicine
Humans
Pentosyltransferases
Age of Onset
Muscular dystrophy
Clinical Research Articles
Survival analysis
Retrospective Studies
Clinical Research Article
business.industry
Middle Aged
medicine.disease
Survival Analysis
Muscular Dystrophies
Limb-Girdle
Cohort
Mutation (genetic algorithm)
Cardiology
Female
Neurology (clinical)
Cardiomyopathies
business
cardiomyopathy
limb‐girdle muscular dystrophy
FKRP
030217 neurology & neurosurgery
All neuromuscular disease
Limb-girdle muscular dystrophy
Zdroj: Muscle & Nerve
ISSN: 1097-4598
0148-639X
DOI: 10.1002/mus.27052
Popis: Introduction 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. 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 A mutation. These data will help to guide surveillance and management.
Databáze: OpenAIRE
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