1. Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related.
- Author
-
Libell EM, Richardson JA, Lutz KL, Ng BY, Mockler SRH, Laubscher KM, Stephan CM, Zimmerman BM, Edens ER, Reinking BE, and Mathews KD
- Subjects
- Adolescent, Adult, Age of Onset, Cardiomyopathies complications, Female, Genotype, Humans, Male, Middle Aged, Muscular Dystrophies, Limb-Girdle complications, Pentosyltransferases, Retrospective Studies, Survival Analysis, Cardiomyopathies epidemiology, Cardiomyopathies genetics, Muscular Dystrophies, Limb-Girdle epidemiology
- Abstract
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 < .0001). There was a weak correlation between ejection fraction and 10-Meter Walk Test speed (r = 0.25), but no correlation with forced vital capacity (r = 0.08)., 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., (© 2020 The Authors. Muscle & Nerve published by Wiley Periodicals LLC.)
- Published
- 2020
- Full Text
- View/download PDF