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Centronuclear myopathy and cardiomyopathy requiring heart transplant

Abdulaziz Al-Ruwaishid1, Jiri Vajsar, Ingrid Tein

  • 1Department of Paediatrics, Division of Neurology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ont. M5G 1X8, Canada.

Brain & Development
|January 22, 2003
PubMed

Insights

Centronuclear myopathy rarely causes cardiomyopathy. This case highlights a young child with heart failure, successfully treated with cardiac transplantation, emphasizing the need for cardiac screening in affected children.

Area of Science:

  • Cardiology
  • Neurology
  • Pediatrics

Background:

  • Centronuclear myopathy (CNM) is a rare neuromuscular disorder.
  • Cardiomyopathy, a leading cause of heart failure, is an infrequent complication of CNM.

Observation:

  • A 3.5-year-old girl presented with early-onset dilated cardiomyopathy and biventricular hypertrophy.
  • Histologic examination revealed features of centronuclear myopathy in skeletal muscle.
  • Cardiac transplantation was performed at 4.5 years due to refractory heart failure.

Findings:

  • The transplanted heart showed dilated cardiomyopathy with hypertrophic myocardiocytes, infarction, and endocardial fibroelastosis.
  • Skeletal muscle biopsy confirmed centronuclear myopathy with increased central nuclei and mitochondrial aggregates.
  • This represents the youngest reported patient with CNM-associated heart failure and the first successful cardiac transplant.

Implications:

  • Early and regular cardiac assessment is crucial for children with histologic evidence of centronuclear myopathy.
  • Cardiac transplantation can be a viable option for severe, refractory heart failure in this population.
  • This case expands the understanding of the cardiac manifestations of centronuclear myopathy.

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