Review of Cardiac Disease in Nemaline Myopathy.

OBJECTIVES: Little is known about the type, frequency, severity, treatment, and outcome of cardiac disease in nemaline myopathy. This review summarizes and discusses findings concerning the type, prevalence, diagnosis, treatment, and outcome of cardiac involvement in nemaline myopathy.

METHODS: Review of publications about nemaline myopathy and cardiac disease.

RESULTS: Altogether, 35 patients with nemaline myopathy with cardiac disease were identified. Age at presentation ranged from 0 to 62 years. In 30 individuals whose gender was described, 22 were male and eight were female. Onset was congenital in 16 patients, infantile in five, and adult in four. Nine patients presented with dilated cardiomyopathy, six with hypertrophic cardiomyopathy, and one with nonspecific cardiomyopathy. Among those with cardiomyopathy, four developed heart failure. One patient experienced sudden cardiac death. A ventricular septal defect was described in two patients. Cardiac treatment included drugs for heart failure (eight patients), implantable cardioverter-defibrillator implantation (one patient), and heart transplant (three patients). Four patients received noninvasive positive-pressure ventilation and two continuous positive-pressure ventilation. The outcome was fatal in 11 patients.

CONCLUSIONS: Cardiac disease in nemaline myopathy manifests as cardiomyopathy leading to heart failure. If respiratory muscles are affected, the right side of the heart may be secondarily involved. Early detection of cardiac involvement is essential since effective treatment for cardiac disease in nemaline myopathy may be available.