Ochronosis, an autosomal recessive metabolic disorder, causes an excess of homogentisic acid that results in adverse pigmentation, calcification, and inflammation of cartilaginous and other tissues. Cardiovascular abnormalities are less frequently reported than are other manifestations. In rare cases, ochronosis can cause valvular heart disease. We report the case of a 72-year-old man with aortic stenosis and mitral insufficiency who was diagnosed with ochronosis while undergoing surgical aortic and mitral valve replacement. We discuss the history and surgical management of alkaptonuric ochronosis.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4378055 | PMC |
| http://dx.doi.org/10.14503/THIJ-14-4138 | DOI Listing |
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