TITLE:
Aortic Valve in Black: A Case of Aortic Valve Ochronosis
AUTHORS:
Ahmed Elagamy Musa, Oliver Grimmig, Jenny Sonke
KEYWORDS:
Alkaptonuria, Aortic Valve Ochronosis, Black Aortic Valve, Black Aortic Intima
JOURNAL NAME:
World Journal of Cardiovascular Surgery,
Vol.12 No.6,
June
29,
2022
ABSTRACT: Alkaptonuria is a rare inherited tyrosine metabolism
disorder, resulting in homogentisic acid deposition in the connective tissues.
The condition is commonly referred to as ochronosis and manifests as skin
pigmentation, degenerative arthropathy, and black urine. Among the rare
complications of this disease is the involvement of the cardiovascular system.
We report a case of a 63-year-old woman with alkaptonuric ochronosis who had
already undergone three joint replacements. She was referred to our center for
aortic valve replacement after accidentally discovering severe aortic valve
stenosis in the preoperative assessment prior to her fourth joint replacement.
Intraoperative findings included ochronosis of a severely calcified
black-pigmented aortic valve and black pigmentation of the aortic intima.
Histopathological analysis and elevated homogentisic acid levels in the patient’s urine confirmed the
diagnosis of alkaptonuria. However, alkaptonuria was not diagnosed until aortic
valve replacement despite the previous symptoms and signs. This report aims to
outline the history, etiology, pathogenesis, clinical presentation, and
treatment of aortic valve ochronosis in addition to presenting the case.