The heart in Friedreich's ataxia. Report of a case.
Cardiac abnormalities are a characteristic feature of the autosomal, recessively inherited, spinocerebellar degeneration known as Friedreich's ataxia. We report the pathologic changes in the heart of a 27-year-old woman with Friedreich's ataxia, including ventricular subendocardial fibroelastosis, occlusion of the coronary sinus ostium, individual myofiber loss, myofiber disarray, and markedly enlarged, hyperchromatic myofiber nuclei. A common pathogenetic mechanism may underlie both cardiac and neurological abnormalities.
D000328:Adult; D004247:DNA / Q000528:radiation effects; D005260:Female; D005621:Friedreich Ataxia / Q000473:pathology*; D006801:Humans; D009206:Myocardium / Q000473:pathology* / Q000648:ultrastructure; D011832:Radiation Injuries / Q000473:pathology
D004247:DNA