Echocardiographic findings in Friedreich's ataxia.
Echocardiographic examination of 21 patients with Friedreich's ataxia (age 7 to 28 years) showed cardiac abnormalities in 90% of the cases. They were characterized by varying degrees of septal hypertrophy in 81%, left ventricular free wall hypertrophy in 61%, and a slight reduction of left ventricular internal dimension in 57% of the cases. Asymmetric septal hypertrophy (ASH) with a septal/left ventricular free wall ratio of over 1.3 was found in 29% of the cases, and systolic anterior motion (SAM) of the mitral valve in three patients. Two other patients showed evidence of a different type of cardiomyopathy with marked symmetric left ventricular hypertrophy and marked left ventricular enlargement.
D000293:Adolescent; D002648:Child; D004452:Echocardiography; D005621:Friedreich Ataxia / Q000175:diagnosis* / Q000473:pathology; D006346:Heart Septum / Q000473:pathology; D006352:Heart Ventricles / Q000473:pathology; D006801:Humans; D008943:Mitral Valve / Q000473:pathology