Life-threatening congestive heart failure as the presentation of centronuclear myopathy

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.