Left ventricular function in Friedreich's ataxia. An echocardiographic study.

Left ventricular function was assessed in seven patients with Friedreich's ataxia using computer-assisted analysis of the left ventricular echocardiograms and compared with those of 45 normal children matched for age and sex. The left ventricle in Friedreich's ataxia was symmetrically hypertrophied, cavity dimension was normal or small, and septal motion and peak velocity of circumferential shortening were normal in all patients. In diastole the duration of rapid filling was normal, peak rate of increase in left ventricular dimension was reduced in two patients, mitral valve opening was delayed with respect to minimum cavity dimension in seven, and there were significantly greater than normal increases in left ventricular dimension during the isovolumic period to mitral valve opening in seven, indicating abnormal and incoordinate relaxation. Peak rates of posterior wall systolic thickening and diastolic thinning were reduced in four and six patients, respectively, whereas peak rates of septal systolic thickening and diastolic thinning were reduced in one and four, respectively, suggesting a disproportionately greater impairment of the posterior wall than of septal function. The absence of asymmetric septal hypertrophy and mid-systolic closure of the aortic valve, the presence of normal septal motion, and the greater reduction in posterior wall than in septal dynamics are inconsistent with previous ideas that the heart disease of Friedreich's ataxia is identical to hypertrophic cardiomyopathy. Computer-assisted analysis of echocardiograms permits recognition of heart disease in Friedreich's ataxia before the onset of cardiac symptoms or development of clinical signs of heart disease.