Nemaline myopathy associated with hypertrophic cardiomyopathy

Nemaline myopathy is not usually considered to involve cardiac muscle and rarely is associated with nocturnal hypoventilation. We report a boy, 5 1/2 years of age, with nemaline myopathy who presented with respiratory failure. Echocardiography demonstrated the septum to left ventricular posterior wall ratio to be increased which is consistent with a hypertrophic cardiomyopathy. Because of nocturnal hypoventilation, tracheostomy was placed for ventilatory assistance. A process involving both muscle and nervous tissue may underlie this congenital myopathy; routine cardiac and pulmonary function evaluations may be indicated in these patients.