Giugliano Gregory R, Sethi Prabhdeep S
Division of Cardiology, Baystate Medical Center, Springfield, Massachusetts 01199, USA.
Tex Heart Inst J. 2007;34(2):214-7.
Friedreich's ataxia is the most common hereditary neurodegenerative disorder, and more than half of all patients show echocardiographic evidence of cardiomyopathy. Although angina has been reported in these patients, the role of coronary artery disease has previously been dismissed and is therefore underestimated. Premature obstructive coronary disease has rarely been angiographically demonstrated in patients with Friedreich's ataxia. We present an unusual case of a 35-year-old woman with Friedreich's ataxia who presented with intermittent chest pressure associated with dyspnea and diaphoresis. Cardiac catheterization revealed a chronically occluded left circumflex coronary artery and a high-grade stenosis of the left anterior descending coronary artery. A Cypher stent, placed within the left anterior descending artery, left no residual stenosis. This case illustrates the importance of fully investigating anginal symptoms in patients with Friedreich's ataxia, because coronary artery disease is likely underdiagnosed in this population. Early diagnosis may permit aggressive management and may delay the progression to end-stage cardiomyopathy.
弗里德赖希共济失调是最常见的遗传性神经退行性疾病，超过半数的患者有超声心动图证据显示存在心肌病。尽管曾有报道这些患者出现心绞痛，但冠状动脉疾病的作用此前一直被忽视，因此未得到充分认识。弗里德赖希共济失调患者很少通过血管造影显示存在过早的阻塞性冠状动脉疾病。我们报告一例不寻常的病例，一名35岁患有弗里德赖希共济失调的女性，出现与呼吸困难和出汗相关的间歇性胸痛。心导管检查显示左旋支冠状动脉慢性闭塞，左前降支冠状动脉高度狭窄。在左前降支动脉内植入一枚西罗莫司洗脱支架后，无残余狭窄。该病例说明了对弗里德赖希共济失调患者的心绞痛症状进行全面检查的重要性，因为该人群中的冠状动脉疾病可能未得到充分诊断。早期诊断可能有助于积极治疗，并可能延缓进展至终末期心肌病。
