1 Nov 2014Case Report
Aortic valve disease as a first manifestation of Alcaptonuria in surgical treated patient. Case report
Mile Vranes 1Ilija Bilbija 1Aleksandar Mikic 1Natasa Kovacevic-Kostic 2Radmila Karan 2Dejan Nikolic 3Biljana Obrenovic-Kircanski 4Milos Velinovic 1
Affiliations
Article Info
1 Faculty of Medicine, University of Belgrade, Serbia; Clinic for Cardiac Surgery, Clinical Center of Serbia, Belgrade, Serbia
2 Center for Anesthesiology, Clinical Center of Serbia, Belgrade, Serbia
3 Faculty of Medicine, University of Belgrade, Serbia; Physical Medicine and Rehabilitation Department, University Children’s Hospital, Belgrade, Serbia
4 Faculty of Medicine, University of Belgrade, Serbia; Clinic for Cardiology, Clinical Center of Serbia, Belgrade, Serbia
Ann. Ital. Chir., 2014, 85(6), 596-600;
Published: 1 Nov 2014
Copyright © 2014 Annali Italiani di Chirurgia
This work is licensed under a Creative Commons Attribution 4.0 International License.
Abstract
BACKGROUND: Alcaptonuria, a rare metabolic disorder (1:250 000), is usually presented with symptoms such as arthropathies of weight bearing joints. CASE REPORT: In this case, a 65 year old woman was admitted to our hospital with severe aortic stenosis and no other symptoms that would suggest the existance of Alcaptonuria. Intraoperative findings of black discoloration of the affected valve and ascending aorta, pointed towards the diagnosis of cardiac ochronosis, what was then confirmed by a PH examination. CONCLUSION: This case suggests that although alcaptonuria is a slow progressive disease with cardiac ochronosis as a predictable late complication, it can nevertheless be a first sign. In that case the attention should be brought to the surely affected lumbar spine and weight bearing joints, and other connective tissue.
Keywords
- Alcaptonuria
- Aortic valve
- Cardiac ochronosis
- Surgery
