Cardiac manifestations in Freidreich's ataxia

Abstract

Six cases of Friedreich's ataxia have been described, four of which showed classical pictures and two of which were considered to be variants of the disease. Cardiac manifestations were observed in four of these cases; in the remaining two no cardiac changes were noted; these cases, however, showed increased deep reflexes and might be considered as variants of the classical picture. Two patients were admitted to the hospital for treatment of the cardiac disorder and two cases were discovered while the patients were in the hospital during investigations of the neurological disorder. On examination, in addition to the neurological features, a rapid, irregular heart action was noted in three patients, two of whom required treatment for Stokes-Adams-like attacks and acute heart failure. In the third case the rapid, irregular rhythm had resulted in “palpitation” and dyspnea which, however, had not become a major complaint to the patient. In the remaining three patients there were no cardiac symptoms or signs; one of these showed the classical Friedreich's syndrome and electrocardiographic abnormalities. The electrocardiogram revealed multiple auricular and ventricular extrasystoles in three patients, with paroxysms of tachycardia in two of these. One other patient showed only T-wave abnormalities. The remaining two were considered normal, although one showed a marked sinus arrhythmia and minor degree of right axis deviation. Four cases showed significant T-wave abnormalities resembling cardiac infarction, and these occurred in the four patients with absent deep reflexes. A notable feature of these cases was the irregular heart action leading to cardiac insufficiency requiring treatment. This has not been a finding associated with the Friedreich's ataxia but has been reported as the principle clinical feature in familial cardiomegaly. The pathological similarity between Friedreich's disease and familial cardiomegaly is discussed, together with a review of the literature related to the heredo familial variants of Friedreich's ataxia, including a family in which both Friedreich's and heart disease has occurred. From the cases presented in this report there is a close relationship between the cardiac manifestations of the Friedreich's Ataxia and familial cardiomegaly. The pathological similarity, the familial nature, and similar clinical features of both, together with the known variants of the Friedreich group, including families with both Friedreich's ataxia and heart disease (in different members), support the concept that the lethal gene (or faulty germinal mutation) may result in familial heart disease occurring alone within the heredofamilial group of disorders.