Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related. Issue 5 (10th September 2020)

• Record Type: Journal Article
• Authors: Libell, Eric M.; Richardson, Julia A.; Lutz, Katie L.; Ng, Benton Y.; Mockler, Shelley R. H.; Laubscher, Katie M.; Stephan, Carrie M.; Zimmerman, Bridget M.; Edens, Erik R.; Reinking, Benjamin E.; Mathews, Katherine D.
• Is Part Of: Muscle & nerve. Volume 62:Issue 5(2020)
• Page Start: 626
• Page End: 632
• Publication Date: 2020-09-10
• Subjects: All neuromuscular disease -- cardiomyopathy -- dystroglycanopathy -- FKRP -- limb‐girdle muscular dystrophy -- muscular dystrophy; Neuromuscular diseases -- Periodicals; Muscles -- Periodicals; Nerves -- Periodicals; 616.74
• DOI: 10.1002/mus.27052
• Languages: English
• ISSNs: 0148-639X

Abstract

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.