title: Cardiac involvement in congenital myopathy.
abstract: We examined cardiac changes in 8 patients (4 men and 4 women, age 21-43 years) with congenital myopathy proven by skeletal muscle biopsy. Of 8 patients, 4 showed cardiac changes, including 1 with cytoplasmic body myopathy (patient 1), 2 with minimal change myopathy (patients 2 and 3) and 1 with nemaline myopathy (patient 4). Patients 1 and 2 showed left ventricular dilatation with severe global hypokinesis of left ventricular wall. These clinical features were quite similar to those of dilated cardiomyopathy and the patients were in NYHA class 3 or 4. Patient 3 had severe mitral regurgitation with mitral valve prolapse. This patient also had a persistent left superior vena cava and hypoplasia of the aorta, and her cardiac function was in NYHA class 3. Patient 4 showed moderate global left ventricular hypokinesis but the left ventricle was not dilated. This patient also had sino-atrial block and type A Wolff-Parkinson-White syndrome. His cardiac function was NYHA class 1. In conclusion, various types of congenital myopathy are associated with cardiac changes which can result in severe congestive heart failure.
mesh_terms: D000328:Adult; D001145:Arrhythmias, Cardiac / Q000151:congenital; D001706:Biopsy; D002302:Cardiac Output; D009202:Cardiomyopathies / Q000151:congenital* / Q000473:pathology; D004452:Echocardiography; D005260:Female; D006346:Heart Septum / Q000473:pathology; D006349:Heart Valve Diseases / Q000151:congenital; D006352:Heart Ventricles / Q000473:pathology; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000151:congenital* / Q000473:pathology; D009200:Myocardial Contraction