title: Nemaline myopathy associated with hypertrophic cardiomyopathy.
abstract: 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.
authors.affiliation: Department of Neurology, Albany Medical College, New York.
authors.forename: C L
authors.initials: CL
authors.lastname: Van Antwerpen
authors.forename: S M
authors.initials: SM
authors.lastname: Gospe
authors.forename: M P
authors.initials: MP
authors.lastname: Dentinger
mesh_terms: D002675:Child, Preschool; D006331:Heart Diseases / Q000150:complications* / Q000473:pathology; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology