Friedreich's ataxia presenting as cardiac disease.
Three male children with Friedreich's ataxia, from a single family, are described. The first patient presented as a cardiologic problem with anginalike chest pain. He was found to have echocardiographic evidence of concentric left ventricular hypertrophy (LVH). He later developed ataxia. The younger brother also had LVH but was asymptomatic and later became ataxic. The elder brother was already ataxic at the time of diagnosis. To our knowledge this is the first report of echocardiographic concentric left ventricular hypertrophy preceding the neurologic syndrome of Friedreich's ataxia.
D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D003937:Diagnosis, Differential; D004452:Echocardiography; D005621:Friedreich Ataxia / Q000175:diagnosis* / Q000235:genetics; D006439:Hemodynamics; D006801:Humans; D008297:Male