title: Friedreich's ataxia as a cause of premature coronary artery disease.
abstract: 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.
authors.affiliation: Division of Cardiology, Baystate Medical Center, Springfield, Massachusetts 01199, USA. gregory.giugliano@bhs.org
authors.forename: Gregory R
authors.initials: GR
authors.lastname: Giugliano
authors.forename: Prabhdeep S
authors.initials: PS
authors.lastname: Sethi
mesh_terms: D000328:Adult; D000787:Angina Pectoris / Q000000981:diagnostic imaging / Q000209:etiology* / Q000503:physiopathology; D006328:Cardiac Catheterization / Q000295:instrumentation; D003097:Collateral Circulation; D017023:Coronary Angiography; D003326:Coronary Circulation; D023921:Coronary Stenosis / Q000150:complications / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology / Q000628:therapy; D005260:Female; D005621:Friedreich Ataxia / Q000150:complications* / Q000000981:diagnostic imaging / Q000503:physiopathology; D006801:Humans; D015607:Stents; D013318:Stroke Volume; D016896:Treatment Outcome; D016277:Ventricular Function, Left