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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.
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.
Abstract:
Centronuclear myopathy has been extremely rarely associated with cardiomyopathy, which can lead to heart failure and premature death. We report the case of a 3.5-year-old girl with early-onset dilated cardiomyopathy, biventricular hypertrophy and histologic features suggestive of centronuclear myopathy. After unsuccessful medical treatment for heart failure, she underwent cardiac transplantation at the age of 4.5 years. Results of a skeletal muscle biopsy showed increased central nuclei and perinuclear vacuolations with aggregates of mitochondria. Examination of the heart at the time of transplantation confirmed a diagnosis of dilated cardiomyopathy. Histologic results revealed hypertrophic myocardiocytes, focal areas of infarction and endocardial fibroelastosis, most prominently in the left ventricle. Although cardiomyopathy is commonly associated with other childhood myopathies, to our knowledge, this is the youngest patient reported with centronuclear myopathy presenting with heart failure caused by cardiomyopathy, and the first patient to successfully undergo cardiac transplantation. One year after the heart transplant, there were no signs of rejection. We recommend detailed cardiac assessment with regular follow-up for children with histologic features consistent with centronuclear myopathy.