Weidemann F, Scholz F, Florescu C, Liu D, Hu K, Herrmann S, Ertl G, Störk S
Medizinische Klinik und Poliklinik I, Deutsches Zentrum für Herzinsuffizienz, Universität Würzburg, Oberdürrbacherstr. 6, 97080, Würzburg, Deutschland,
Herz. 2015 Mar;40 Suppl 1:85-90. doi: 10.1007/s00059-014-4097-y. Epub 2014 May 23.
Friedreich's ataxia is a rare hereditary disease and although the gene defect has already been identified as a deficiency of the mitochondrial protein frataxin, the pathophysiology is still unknown. Although a multisystem disorder organ involvement is predominantly neurological. Besides the characteristic features of spinocerebellar ataxia the heart is frequently also affected. Cardiac involvement typically manifests as hypertrophic cardiomyopathy, which can progress to heart failure and death. So far most research has focused on the neurological aspects and cardiac involvement in Friedreich's ataxia has not been systematically investigated. Thus, a better understanding of the progression of the cardiomyopathy, cardiac complications and long-term cardiac outcome is warranted. Although no specific treatment is available general cardiac therapeutic options for cardiomyopathy should be considered. The current review focuses on clinical and diagnostic features of cardiomyopathy and discusses potential therapeutic developments for Friedreich's ataxia.
弗里德赖希共济失调是一种罕见的遗传性疾病，尽管基因缺陷已被确定为线粒体蛋白frataxin缺乏，但病理生理学仍不清楚。虽然它是一种多系统疾病，但其器官受累主要是神经性的。除了脊髓小脑共济失调的特征性表现外，心脏也经常受到影响。心脏受累通常表现为肥厚型心肌病，可进展为心力衰竭和死亡。到目前为止，大多数研究都集中在神经方面，弗里德赖希共济失调的心脏受累尚未得到系统研究。因此，有必要更好地了解心肌病的进展、心脏并发症和长期心脏预后。虽然没有特效治疗方法，但应考虑针对心肌病的一般心脏治疗方案。本综述重点关注心肌病的临床和诊断特征，并讨论弗里德赖希共济失调潜在的治疗进展。
