The Dark Side of the Heart: Cardiovascular Manifestation of Ochronosis

Mislav Planinc; Daniel Unic; Davor Baric; Robert Blazekovic; Andrej Sribar; Zeljko Sutlic; Igor Rudez

doi:10.1016/j.athoracsur.2019.02.042

The Dark Side of the Heart: Cardiovascular Manifestation of Ochronosis

Ann Thorac Surg. 2019 Oct;108(4):e257-e259. doi: 10.1016/j.athoracsur.2019.02.042. Epub 2019 Mar 26.

Authors

Mislav Planinc¹, Daniel Unic², Davor Baric², Robert Blazekovic², Andrej Sribar³, Zeljko Sutlic², Igor Rudez²

Affiliations

¹ Department of Cardiac and Transplant Surgery, University Hospital Dubrava, Zagreb, Croatia. Electronic address: mislav.planinc@gmail.com.
² Department of Cardiac and Transplant Surgery, University Hospital Dubrava, Zagreb, Croatia.
³ Clinical Department of Anesthesiology, Reanimatology, and Intensive Care Medicine, University Hospital Dubrava, Zagreb, Croatia.

PMID: 30926473
DOI: 10.1016/j.athoracsur.2019.02.042

Abstract

Alkaptonuria is rare genetic disorder of tyrosine metabolism manifesting with signs of tissue pigmentation, dark urine, and ochronotic arthropathies. Commonly undiscovered by late adulthood, alkaptonuria can manifest as cardiac ochronosis with cardiovascular disorders such as valvulopathies, but rarely coronary artery disease. This case report describes 2 patients with aortic stenosis and coronary artery disease in whom alkaptonuria was diagnosed during open heart surgery.

Publication types

Case Reports

MeSH terms

Aged
Alkaptonuria / complications*
Alkaptonuria / diagnosis
Aortic Valve Stenosis / etiology*
Aortic Valve Stenosis / surgery
Coronary Artery Disease / etiology*
Coronary Artery Disease / surgery
Female
Humans
Middle Aged
Ochronosis / etiology*
Ochronosis / pathology