弗里德赖希共济失调的心脏。病例报告。

The heart in Friedreich's ataxia. Report of a case.

作者信息

Brumback R A, Panner B J, Kingston W J

出版信息

Arch Neurol. 1986 Feb;43(2):189-92. doi: 10.1001/archneur.1986.00520020075026.

DOI:10.1001/archneur.1986.00520020075026

Abstract

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.

摘要

心脏异常是常染色体隐性遗传的脊髓小脑变性即弗里德赖希共济失调的一个特征性表现。我们报告了一名27岁弗里德赖希共济失调女性患者心脏的病理变化，包括心室心内膜下纤维弹性组织增生、冠状窦口闭塞、个别肌纤维丢失、肌纤维排列紊乱以及明显增大、染色质增多的肌纤维核。心脏和神经异常可能有共同的发病机制。