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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
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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.

Keyword

aortic valve - heart valve - cardiac


Publication History

Received: 23 February 2021

Accepted: 24 February 2021

Article published online:
27 June 2021

© 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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  • References

  • 1 Selvakumar D, Sian K, Sugito S, Singh T. Ochronosis of the aortic valve. J Thorac Dis 2018; 10 (05) E332-E334
    CrossrefPubMedGoogle Scholar
  • 2 Lok ZS, Goldstein J, Smith JA. Alkaptonuria-associated aortic stenosis. J Card Surg 2013; 28 (04) 417-420
    CrossrefPubMedGoogle Scholar
  • 3 Vo T, Edwards JRM. A black heart: aortic valve ochronosis secondary to alkaptonuria causing aortic stenosis. J Card Surg 2021; 36 (02) 758-760
    CrossrefPubMedGoogle Scholar
  • 4 Ranganath LR, Khedr M, Milan AM. et al. Nitisinone arrests ochronosis and decreases rate of progression of alkaptonuria: evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre. Mol Genet Metab 2018; 125 (1–2): 127-134
    CrossrefPubMedGoogle Scholar