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Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related

Eric M Libell1, Julia A Richardson1, Katie L Lutz1

  • 1Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.

Muscle & Nerve
|September 11, 2020
PubMed

Insights

Cardiomyopathy affects nearly half of limb girdle muscular dystrophy R9 patients. Those with the c.826C>A mutation experience later onset, aiding future cardiac management.

Area of Science:

  • Neurology
  • Cardiology
  • Genetics

Background:

  • Limb girdle muscular dystrophy R9 (LGMDR9) is a genetic disorder with variable reported frequencies of cardiomyopathy.
  • Understanding the prevalence and timing of cardiac involvement is crucial for patient management.

Purpose of the Study:

  • To determine the frequency and age of onset of cardiomyopathy in a cohort of LGMDR9 patients.
  • To investigate the relationship between specific genotypes and cardiac outcomes.

Main Methods:

  • Retrospective review of echocardiograms from 56 LGMDR9 subjects.
  • Survival analysis was used to assess the cumulative probability of abnormal echocardiograms by age and genotype.
  • Correlations between cardiac function (ejection fraction) and clinical measures (10-Meter Walk Test, forced vital capacity) were evaluated.

Main Results:

  • Cardiomyopathy was present in 45% (25/56) of the participants.
  • The median age of first abnormal echocardiogram was significantly later for subjects homozygous for the c.826C>A variant (54.2 years) compared to other FKRP genotypes (18.1 years).
  • A weak correlation was observed between ejection fraction and 10-Meter Walk Test speed, but not with forced vital capacity.

Conclusions:

  • Cardiomyopathy is a prevalent complication in LGMDR9.
  • Subjects homozygous for the c.826C>A mutation experience a later onset of cardiomyopathy.
  • These findings are valuable for guiding surveillance and management strategies for LGMDR9 patients.
Abstract

Keywords:
All neuromuscular diseaseFKRPcardiomyopathydystroglycanopathylimb-girdle muscular dystrophymuscular dystrophy

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