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  • Title: Choice of valve prosthesis in a rare clinical condition: aortic stenosis due to alkaptonuria.
    Author: Thakur S, Markman P, Cullen H.
    Journal: Heart Lung Circ; 2013 Oct; 22(10):870-2. PubMed ID: 23357094.
    Abstract:
    Alkaptonuria is a rare inherited disorder of tyrosine metabolism, which results in deposition of homogentisic acid in the connective tissues. The accumulation of homogentisic acid in connective tissue causes the syndrome known as ochronosis, which is typically manifested by skin pigmentation, degenerative arthropathy and discolouration of urine. Cardiovascular involvement is a much less common complication of alkaptonuria but poses a greater risk to the patient's health. We present the case of a 65 year-old man with aortic stenosis and a previous diagnosis of alkaptonuria who underwent successful aortic valve replacement with a mechanical prosthesis.
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