A Severe Aortic Stenosis and Coronary Calcifications in Alkaptonuria

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  • 大動脈弁狭窄症に加え，冠動脈石灰化を呈していたアルカプトン尿症の1例

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Abstract

<p>Alkaptonuria is a rare genetic disease, in which amino acids and tyrosine cannot be processed. A 72-year-old man with a history of aortic valve stenosis presented with coronary 3-vessel disease. Intraoperative findings included ochronosis, which is pigmentation caused by the accumulation of homogentistic acids in connective tissues, or on the severely calcified aortic valve, the intima of the aorta, and the coronary arteries. The pigmented region of the coronary arteries had significant stenosis. Aortic valve replacement and coronary artery bypass were performed. From these findings and his past history of arthritis, we diagnosed alkaptonuria. The patient had an uneventful recovery.</p>

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