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.

Fig. 1 Angiography revealed 2 serial 90% lesions in the proximal mid portion of the left anterior descending coronary artery (large arrows), chronic total occlusion of the proximal circumflex coronary artery (small arrow), and luminal irregularities in the dominant right coronary artery.

Fig. 2 The sequential lesions in the proximal-to-mid portion of the left anterior descending coronary artery were treated successfully by means of a single 3.0-mm × 23-mm Cypher® stent (arrow), which left no residual stenosis.

Fig. 3 Repeat coronary angiography, 3 months after the initial procedure, revealed patency of the stent in the left anterior descending coronary artery and no interim changes in the other coronary arteries.