Chest
Volume 96, Issue 1, July 1989, Pages 209-210
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Combined Aortic and Mitral Valve Replacement in an Adult with Scheie's Disease

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Mitral, aortic, and coronary arterial disease have been described in the various mucopolysaccharidoses. We report the first successful combined aortic and mitral valve replacement in an adult female patient with severe aortic and mitral stenosis due to Scheie's syndrome, a mucopolysaccharide storage disease. Both annulae were of sufficient integrity for good prosthetic placement, and the patient had an uneventful postoperative recovery.

Section snippets

Case Report

A 42-year-old woman with Scheie's disease, documented by high levels of chondroitin sulfate B in the urine and typical clinical features, was admitted for diagnostic studies after recent admissions for chest pain and congestive heart failure. Physical examination was notable for auscultatory findings compatible with significant aortic and mitral stenosis. A faint murmur of aortic insufficiency was also present. The remainder of the history and physical examination was significant for blindness

DISCUSSION

Cardiac involvement in the mucopolysaccharidoses is common and has been reported in all forms.1, 2, 3, 4 Echocardiographic abnormalities in these storage diseases have been reported, with patchy thickening of the valves and other associated echocardiographic abnormalities noted.4, 5, 6 Scheie's syndrome has been associated with mitral and aortic valve involvement, either stenotic, insufficient, or both.5

The clinical manifestations of Scheie's disease include corneal clouding and mild to

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