We report an unusual case of black discoloration of an aortic root aneurysm and aortic valve cusps due to homogentisic acid deposition in a patient suffering from alkaptonuria. The patient underwent a valve-sparing aortic root replacement after careful and objective evaluation of the valve cusps. Despite alkaptonuria is classically associated with aortic valve stenosis and replacement, in the present case, the affected valve cusps were suitable for repair. To our knowledge, this is the first reported case of aortic valve-sparing procedure performed in a patient with alkaptonuria.
Keywords: aorta and great vessels; valve repair/replacement.
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