CC BY-NC-ND 4.0 · Thorac Cardiovasc Surg Rep 2021; 10(01): e39-e41
DOI: 10.1055/s-0041-1728721
Case Report: Cardiac

Black Aortic Valve: Incidental Finding of Alkaptonuria

Christina Putz
1  Klinik für Herz-, Thorax- und herznahe Gefäßchirurgie, Universitätsklinikum Regensburg, Regensburg, Germany
,
Franz Josef Putz
2  Klinik für Nephrologie, Universitätsklinikum Regensburg, Regensburg, Germany
,
Andreas Keyser
1  Klinik für Herz-, Thorax- und herznahe Gefäßchirurgie, Universitätsklinikum Regensburg, Regensburg, Germany
,
Christof Schmid
1  Klinik für Herz-, Thorax- und herznahe Gefäßchirurgie, Universitätsklinikum Regensburg, Regensburg, Germany
› Institutsangaben

Abstract

Background Alkaptonuria is a rare autosomal recessive genetic disorder of tyrosine metabolism, which results in accumulation of homogentisic acid in various tissues, including the cardiovascular system.

Case Description We report on a 64-year-old man with mixed aortic valve disease who underwent conventional aortic valve replacement. Intraoperative aortotomy revealed black pigmentation of the intima of the ascending aorta and the aortic valve was observed with thickened and calcified dark black leaflets. Histopathological diagnosis of ochronosis of the aortic valve was made.

Conclusion Despite several previous signs and symptoms, the diagnosis of alkaptonuria was not established until aortic valve replacement.



Publikationsverlauf

Eingereicht: 23. Februar 2021

Angenommen: 24. Februar 2021

Publikationsdatum:
27. Juni 2021 (online)

© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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