Blackish Pigmentation of the Aorta in Patient with Alkaptonuria and Heyde's Syndrome.

Alkaptonuria is an autosomal recessive trait resulting in an error of aromatic amino acids metabolism. Heyde’s syndrome is a condition clustering together aortic valve stenosis and gastrointestinal bleeding from colonic angiodysplasia. At present, there is no report describing the association of the latter two syndromes in the same patient. Here we present the case of a patient with severe aortic stenosis, alkaptonuria, and Heyde’s syndrome. The patient underwent aortic valve replacement by means of a valvular bioprosthesis and the histological examination of the aortic cusps revealed calcific degeneration. This was associated with stromal degeneration characterized by extra-cellular deposition of granular, brownish-pigmented material along with macrophages and multiple foci of calfication showing the same brownish pigmentation. This configuration represents the typical pattern of homogentisic acid accumulation known as ochronosis. The postoperative course was uneventful and the echocardiographic follow-up at 6 months postoperatively showed good-functioning of the aortic valve bioprosthesis.