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Case Reports
. 2014 Apr 1;2(2):74-6.
doi: 10.12945/j.aorta.2014.13-058. eCollection 2014 Apr.

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

Fabio Capuano  1 , Emiliano Angeloni  1 , Antonino Roscitano  1 , Roberto Bianchini  1 , Simone Refice  1 , Andrea Lechiancole  1 , Giovanni Melina  1 , Cosimo Comito  1 , Riccardo Sinatra  1
Affiliations
Case Reports

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

Fabio Capuano et al. Aorta (Stamford). .

Abstract

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.

Keywords: Alkaptonuria; Aortic valve replacement; Heyde's syndrome.

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Figures

Figure 1.
Figure 1.
Scleral pigmentation due to alkaptonuria.
Figure 2.
Figure 2.
Blackish aortic wall (A, B). Aortic leaflet calcification (A).
Figure 3.
Figure 3.
Microscopic pattern of the native aortic cusp. Calcific degeneration was associated with stromal degeneration characterized by extra-cellular deposition of granular, brownish-pigmented material along with macrophages and multiple calfication foci showing the same brownish pigmentation.
See this image and copyright information in PMC

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