title: Cardiac involvement in the Kugelbert-Welander syndrome.
abstract: Two cases of the Kugelberg-Welander syndrome (juvenile form of progressive spinal muscular atrophy) associated with cardiomyopathy and cardiomegaly are presented. The first patient, a 24 year old man, had atrial flutter with complete atrioventricular (A-V) block due to A-H block. Echocardiography revealed an increase in the left atrial and right ventricular dimensions. The second patient was a 26 year old man whose electrocardiogram revealed an A-V junctional rhythm, deep Q wave in leads I, aVL and V5 to V6 and an RS pattern in lead V1. Histologic examination of the myocardium in Case 2 showed slight interstitial fibrosis. Review of previously reported cases shows that (1) the atrium, the ventricular myocardium and A-V conducting tissue may be involved, and (2) atrial arrhythmias, A-V conduction disturbances and congestive heart failure may occur in the Kugelberg-Welander syndrome.
mesh_terms: D000328:Adult; D001282:Atrial Flutter / Q000175:diagnosis; D006332:Cardiomegaly / Q000175:diagnosis; D004452:Echocardiography; D005808:Genes, Recessive; D006327:Heart Block / Q000175:diagnosis; D006331:Heart Diseases / Q000175:diagnosis*; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000150:complications / Q000235:genetics*; D009468:Neuromuscular Diseases / Q000150:complications