Sellitto F, Petretta M, Guidace G, Squarcia U, Agnetti A
Pediatr Med Chir. 1986 Mar-Apr;8(2):163-7.
Friedreich's ataxia (FA) is an hereditary degenerative disease involving the spino-cerebellar via which in 10-15% of the cases is associated with symptomatic cardiac disease. Abnormal ECG or ECHO finding are present even in absence of cardiac symptoms in 100% of the patients. A 7 y.o. girl with the clinical picture of FA with cardiac involvement is presented. The features of the cardiomyopathy present in FA studied with ECHO, myocardial perfusion with Thallium 201 and with histologic examination and its relationship with the hypertrophic cardiomyopathy are discussed. Different theories aiming to discover a unique biochemical factor responsible of both the neurological and cardiac disorders are presented.
弗里德赖希共济失调（FA）是一种遗传性退行性疾病，累及脊髓小脑通路，10%至15%的病例伴有症状性心脏病。即使在没有心脏症状的情况下，100%的患者也存在异常心电图或超声心动图表现。本文介绍了一名7岁患有FA且有心脏受累临床表现的女孩。讨论了通过超声心动图、201铊心肌灌注及组织学检查研究的FA中存在的心肌病特征及其与肥厚型心肌病的关系。还介绍了旨在发现一个导致神经和心脏疾病的独特生化因素的不同理论。
