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Life-threatening congestive heart failure as the presentation of centronuclear myopathy
S M Gospe1, D L Armstrong, M V Gresik
1Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston 77030.
Insights
Centronuclear myopathy infrequently causes cardiomyopathy. This case highlights the need to evaluate patients with idiopathic cardiomyopathy for skeletal muscle diseases like centronuclear myopathy.
Area of Science:
- Cardiology
- Neurology
- Genetics
Background:
- Centronuclear myopathy (CNM) is a rare genetic disorder typically characterized by muscle weakness.
- Cardiomyopathy is an uncommon manifestation of CNM, with limited documented cases.
- This study investigates a rare presentation of CNM with severe cardiac involvement.
Observation:
- A 15-year-old male presented with acute congestive heart failure and diffuse muscular atrophy.
- Cardiac catheterization revealed dilated cardiomyopathy with impaired left ventricular function.
- Muscle biopsies showed features of centronuclear myopathy in the triceps and dilated cardiomyopathy with fibrosis in the ventricles.
Findings:
- The patient was diagnosed with centronuclear myopathy and dilated cardiomyopathy.
- Histopathological examination confirmed hydropic degeneration and fibrosis in cardiac muscle, alongside centronuclear myopathy in skeletal muscle.
- This case underscores the potential for significant cardiac involvement in CNM.
Implications:
- The broad spectrum of CNM necessitates considering cardiac disease in affected individuals.
- Patients presenting with idiopathic cardiomyopathy should be screened for underlying skeletal muscle disorders, including CNM.
- Early diagnosis and management can potentially improve outcomes for patients with this rare comorbidity.
Abstract:
Myocardiopathy is associated infrequently with centronuclear myopathy. We present biopsy studies of a 15 1/2-year-old black male who presented with profound acute congestive heart failure and diffuse muscular atrophy. Cardiac symptoms had been present for 6 months; limb weakness had been unassociated with either infantile hypotonia or developmental delay. Cardiac catheterization demonstrated a dilated myocardiopathy and poor left ventricular contractility. Biopsies of both ventricles revealed striking hydropic degeneration and fibrosis. Right triceps biopsy disclosed centronuclear myopathy. Because the spectrum of disease expression in centronuclear myopathy is extensive, an association with cardiac disease always should be considered in these patients. In addition, we recommend that patients who present with idiopathic myocardiopathy should be evaluated for this and other skeletal muscle diseases.