Cardiac Manifestations of Friedreich's Ataxia

The heart in Friedreich's ataxia.

“…It is to be noted that Russell (1946), in her published. Three of these (Nadas, Alimurung, careful report, does not mention any microscopical and Sieracki, 1951;James and Fisch, 1963; Ivemark abnormality of the cardiac vessels. and Thor'n, 1964) mentioned narrowing of the The present study was undertaken in order to small cardiac arteries.…”

“…and Thor'n, 1964) mentioned narrowing of the The present study was undertaken in order to small cardiac arteries. Nadas et al (1951) examined amplify the pathological data so far published and, the heart of a child aged 16 who died suddenly after in particular, to investigate the claims of some prean upper respiratory tract infection. The heart vious workers that extensive small artery disease is was enlarged and there was extensive fibrosis and present in the heart.…”

Coronary disease, cardioneuropathy, and conduction system abnormalities in the cardiomyopathy of Friedreich's ataxia.

“…Small deposits of this Schiff-positive material were found rarely in a nerve or within myocytes, but the material was most often and readily demonstrable in the small coronary arteries. Dr Alexander Nadas kindly gave us the opportunity of examining sections of the original case of Nadas et al 6 The stenotic lesions in the small coronary arteries also contained Schiff positive material. As in our own cases, however, the Nadas case also had other histological lesions that narrowed the small coronary arteries but did not contain Schiff positive material.…”

“…Previous studies have unequivocally shown that the small coronary arteries are abnormal in patients who have cardiac disease and Friedreich's ataxiaS 6 [8][9][10][11][12]; but the functional significance of this finding has been challenged, particularly by Hewer"1 whose findings have been widely quoted in virtually all subsequent reviews. In the present report we describe our own findings in three patients, which support the importance of small coronary artery disease, and show why we believe that Hewer's personal observations do in fact accord our findings.…”

Cardiac Transplantation in Friedreich Ataxia

“…1–3 The prevalence of cardiomyopathy in pediatric patients with Friedreich ataxia ranges from 57% to 81%, 4,5 with some evidence suggesting the length of the GAA repeat expansion in intron 1 of the FXN gene influences age of onset and severity of cardiomyopathy 6–9 A recent study of 61 deceased patients with genetically confirmed Friedreich ataxia revealed that cardiac dysfunction was the cause of death in 59% of the cohort. 10 Among these deaths, the most common cause (30%) was end-stage congestive heart failure, followed by cardiac failure complicated by arrhythmia (8%) and isolated arrhythmia (8%).…”