[Progression of cardiopathology in Friedreich ataxia: clinico-instrumental study]

Clinical, electrocardiographic and echocardiographic 5-year follow-up was performed in our institution on 61 patients with Friedreich's ataxia. Cardiac failure was evident in 5% of the patients, and was the most common cause of death. Cardiac arrhythmias, most commonly supraventricular in origin, usually occurred together with the onset of cardiac failure and in 1 case resulted in sudden death. ST-T abnormalities were present in 91% of the cases, and were independent from other clinical parameters. On the contrary, pseudonecrotic (5%) and right ventricular hypertrophy pattern were associated with a poor prognosis. Left ventricular hypertrophy was evident at the echocardiogram in 75% of cases and remained unchanged throughout the entire follow-up period. In 1 case left ventricular hypertrophy turned to dilative cardiomyopathy. Autopsy was performed in 2 out of 4 decreased patients and revealed massive interstitial fibrosis with cellular degeneration in the absence of coronary lesions.