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The cardiovascular signs and symptoms were recorded in 36 patients with typical Friedreich's Ataxia (Group la, lb). Seventeen patients were asymptomatic and this did not correlate with the severity of the disease. No pathognomonic clinical constellation was found to reveal the underlying cardiomyopathy.
Thirteen patients with classical Friedreich's ataxia underwent cardiac catheterization with recordings of retrograde cardiac pressures, measurements of cardiac output and calculation of the left ventricular volumes and mass. The cardiomyopathy in Friedreich's ataxia falls into the hypertrophic group of cardiomyopathies with decreased compliance of ventricular myocardium, varying degrees of concentric and asymmetric hypertrophy and outflow tract obstruction. Although there is no clear parallel between the degree of abnormal hemodynamic findings and the degree of neurological impairment, severely handicapped patients may present a diffusely hypertrophied and hypokinetic left ventricular myocardium.
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