Aortic valve stenosis due to alkaptonuria.
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.
Brueck
Martin
M
Department of Cardiology, Hospital of Wetzlar, Wetzlar, Geramny. Martin.Brueck@hkw.med.uni-giessen.de
Bandorski
Dirk
D
Kramer
Wilfried
W
Schoenburg
Markus
M
von Gerlach
Susanne
S
Tillmanns
Harald
H
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