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DOI: 10.12945/j.aorta.2014.13-058
Blackish Pigmentation of the Aorta in Patient with Alkaptonuria and Heyde's Syndrome
Publikationsverlauf
18. November 2013
11. März 2014
Publikationsdatum:
24. September 2018 (online)
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.
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References
- 1 Roser M, Moller J, Komoda T, Knosalla C, Stawowy P. Alkaptonuric aortic stenosis. Eur Heart J 2008; 29: 444 . 10.1093/eurheartj/ehm406
- 2 Online Mendelian Inheritance in Man, MIM# 203500; http://omim.org/entry/203500
- 3 Pettit SJ, Fisher M, Gallagher JA, Ranganath LR. Cardiovascular manifestations of alkaptonuria. J Inherit Metab Dis 2011; 34: 1177-1181 . 10.1007/s10545-011-9339-z
- 4 Saad RA, Lwaleed BA, Kazmi RS. Gastrointestinal bleeding and aortic stenosis (Heyde syndrome): the role of aortic valve replacement. J Card Surg 2013; 28: 414-416 . 10.1111/jocs.12131
- 5 Vincentelli A, Susen S, Le Tourneau T, Six I, Fabre O, Juthier F. , et al. Acquired von Willebrand syndrome in aortic stenosis. N Engl J Med 2003; 349: 343-349 . 10.1056/NEJMoa022831
- 6 Abi-akar R, El-rassi I, Karam N, Jassar Y, Slim R, Jebara V. Treatment of Heyde's syndrome by aortic valve replacement. Curr Cardiol Rev 2011; 7: 47-49 . 10.2174/157340311795677699
- 7 Introne WJ, Perry MB, Troendle J, Tsilou E, Kayser MA, Suwannarat P. , et al. A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. Mol Genet Metab 2011; 103: 307-314 . 10.1016/j.ymgme.2011.04.016