AORTIC VALVE REPLACEMENT IN ALKAPTONURIC OCHRONOSIS

Authors

  • Elisa Landín Rey Service of Cardiac Surgery. University Hospital. Department of Surgery and Medico-Surgical Specialities. School of Medicine. University of Santiago de Compostela, Spain
  • Angel L. Fernández Service of Cardiac Surgery. University Hospital. Department of Surgery and Medico-Surgical Specialities. School of Medicine. University of Santiago de Compostela, Spain
  • Amparo Martínez Monzonís Service of Cardiology. University Hospital, Santiago de Compostela, Spain
  • Aurora Baluja Service of Anesthesiology. University Hospital, Santiago de Compostela, Spain
  • José M. Suárez Peñaranda Service of Pathology. University Hospital Santiago de Compostela, Spain

DOI:

https://doi.org/10.48729/pjctvs.60

Abstract

Alkaptonuria is an autosomal recessive inborn error of metabolism of the aromatic amino acids. Deficiency of the homogentisate1,2-dioxygenase leads to an increased blood and urinary concentration of homogentisc acid resulting in a slow accumulation of its oxidation products in the connective tissues (ochronosis). The most common clinical manifestation of ochronosis is arthropathy whereas cardiac involvement is very infrequent. We report the case of a patient with ochronotic involvement of the aortic valve who underwent a valve replacement. Some aspects of pathogenesis, and treatment are discussed.

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References

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Published

30-06-2020

How to Cite

1.
Landín Rey E, Fernández AL, Martínez Monzonís A, Baluja A, Suárez Peñaranda JM. AORTIC VALVE REPLACEMENT IN ALKAPTONURIC OCHRONOSIS. Rev Port Cir Cardiotorac Vasc [Internet]. 2020 Jun. 30 [cited 2024 May 21];27(2):121-3. Available from: https://pjctvs.com/index.php/journal/article/view/60

Issue

Section

Clinical Cases