Choice of valve prosthesis in a rare clinical condition: aortic stenosis due to alkaptonuria.
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.
Cardiac and Thoracic Surgical Unit, Flinders Medical Centre, Australia.
Sameer
S
Thakur
Phuong
P
Markman
Hugh
H
Cullen
D000368:Aged; D000474:Alkaptonuria / Q000150:complications / Q000378:metabolism / Q000601:surgery; D001024:Aortic Valve Stenosis / Q000150:complications / Q000378:metabolism / Q000601:surgery; D006350:Heart Valve Prosthesis; D006713:Homogentisic Acid / Q000378:metabolism; D006801:Humans; D008297:Male; D009794:Ochronosis / Q000150:complications / Q000378:metabolism / Q000601:surgery; D012880:Skin Pigmentation; D013577:Syndrome
D006713:Homogentisic Acid
Alkaptonuria; Aortic stenosis; Aortic valve replacement; Ochronosis; Prosthesis