title: Aortic valve stenosis due to alkaptonuria.
abstract: Cardiovascular disease is a less-well appreciated aspect of alkaptonuria. A 69-year-old man presented with shortness of breath and exertional chest pain. He had a previous diagnosis of alkaptonuria (endogenous ochronosis), confirmed on the basis of urine coloration, skin pigmentation and ochronotic arthropathy in the knees. Echocardiography and coronary angiography revealed severe aortic valve stenosis and concomitant coronary artery disease. The patient underwent biological aortic valve replacement (AVR) and coronary artery bypass grafting (CABG). Operative findings included ochronosis of a severely calcified aortic valve and the aortic intima, and bioprosthetic AVR and CABG were successfully performed.
authors: Department of Cardiology, Hospital of Wetzlar, Wetzlar, Geramny. Martin.Brueck@hkw.med.uni-giessen.de
authors: Martin
authors: M
authors: Brueck
authors: Dirk
authors: D
authors: Bandorski
authors: Wilfried
authors: W
authors: Kramer
authors: Markus
authors: M
authors: Schoenburg
authors: Susanne
authors: S
authors: von Gerlach
authors: Harald
authors: H
authors: Tillmanns
mesh_terms: D000368:Aged; D000474:Alkaptonuria / Q000150:complications*; D001024:Aortic Valve Stenosis / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D002114:Calcinosis / Q000150:complications / Q000175:diagnosis / Q000601:surgery; D009202:Cardiomyopathies / Q000150:complications / Q000175:diagnosis; D017023:Coronary Angiography; D001026:Coronary Artery Bypass / Q000379:methods; D003327:Coronary Disease / Q000175:diagnosis / Q000209:etiology / Q000601:surgery; D004452:Echocardiography; D005500:Follow-Up Studies; D019918:Heart Valve Prosthesis Implantation / Q000379:methods*; D006801:Humans; D008297:Male