Dilated cardiomyopathy in Friedreich's ataxia: 2D echo and tissue-Doppler analysis of left ventricular and atrial function.

Friedreich’s ataxia (FA) is a hereditary spinocerebellar degenerative disease characterised clinically by ataxia, dysarthria, skeletal deformities, and progressive dystrophia of the skeletal muscles. The disease is frequently associated with concentric and, in some cases, eccentric hypertrophic cardiomyopathy. Presentation of a dilated cardiomyopathy with global dysfunction of the myocardium is rare and commonly supposed to represent an end-stage of a progressive transition from the hypertrophic cardiomyopathy. We report the echocardiographic and tissue-Doppler findings in a case with FA who presented with dilated cardiomyopathy shortly after debut of cardiac symptoms.