Journal article
Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related
Muscle & nerve, Vol.62(5), pp.626-632
11/2020
DOI: 10.1002/mus.27052
PMID: 32914449
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.
Details
- Title: Subtitle
- Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related
- Creators
- Eric M Libell - University of Iowa Carver College of MedicineJulia A Richardson - University of Iowa Carver College of MedicineKatie L Lutz - University of Iowa Carver College of MedicineBenton Y Ng - University of Iowa Carver College of MedicineShelley R. H Mockler - University of Iowa Stead Family Children's HospitalKatie M Laubscher - University of Iowa Stead Family Children's HospitalCarrie M Stephan - University of Iowa Carver College of MedicineBridget M Zimmerman - College of Public Health, University of IowaErik R Edens - Children's MinnesotaBenjamin E Reinking - University of Iowa Carver College of MedicineKatherine D Mathews - University of Iowa Carver College of Medicine
- Resource Type
- Journal article
- Publication Details
- Muscle & nerve, Vol.62(5), pp.626-632
- Publisher
- John Wiley & Sons, Inc; Hoboken, USA
- DOI
- 10.1002/mus.27052
- PMID
- 32914449
- ISSN
- 0148-639X
- eISSN
- 1097-4598
- Number of pages
- 7
- Language
- English
- Date published
- 11/2020
- Academic Unit
- Neurology; Cardiology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Biostatistics; Physical Therapy and Rehabilitation Science; Neurology (Pediatrics)
- Record Identifier
- 9984071614702771