A rare case of valve disease caused by alkaptonuria

Alkaptonuria is a rare autosomal recessive disease that affects the tyrosine metabolism causing an accumulation of homogentisic acid in certain tissues of the human body as the cartilaginous tissue, causing degeneration, calcification and fibrosis. Cardiovascular manifestations are rare, having few cases in the literature in which cardiac valvular involvement occurs. Wepresent the case of a 76 year-old woman with history of alkaptonuria who was diagnosed with double aortic severe injury and moderate mitral insufficiency requiring surgery for aortic and mitral valve replacement. We reviewed the etiology, pathogenesis, clinical manifestations, diagnosis and treatment of this pathology. (c) 2017 Published by Elsevier Espana, S.L.U. on behalf of Sociedad Espanola de Cirugia Toracica-Cardiovascular. This is an open access article under the CC BY-NC-ND license.