STEPHEN C. VLAY, M.D.; ALAN R. HARTMAN, M.D.; ALFRED T. CULLIFORD, M.D.
To the editor: Alkaptonuria, a hereditary disorder related to the absence of homogentisic acid oxidase, may be associated with cardiovascular disease (1-4). Because of its low prevalence in the population, its incidence among patients with overt cardiovascular disorders is low. Nevertheless, patients may have generalized arteriosclerosis, chronic mitral and aortic valvulitis, and calcification of the valves and anulus.
A 70-year-old woman was hospitalized for evaluation of syncope. The physical findings included classic signs of aortic stenosis, including a delayed carotid upstroke, 3/6 crescendo-decrescendo murmur at the base with radiation to the carotid arteries, absent A2 component of the second heart
VLAY SC, HARTMAN AR, CULLIFORD AT. Alkaptonuria and Aortic Stenosis. Ann Intern Med. ;104:446. doi: 10.7326/0003-4819-104-3-446_1
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Published: Ann Intern Med. 1986;104(3):446.
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