Aortic valve disease as a first manifestation of Alcaptonuria in surgical treated patient. Case report

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Mile Vranes
Ilija Bilbija
Aleksandar Mikic
Natasa Kovacevic-Kostic
Radmila Karan
Dejan Nikolic
Biljana Obrenovic-Kircanski
Milos Velinovic

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.

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How to Cite
Vranes, Mile, et al. “Aortic Valve Disease As a First Manifestation of Alcaptonuria in Surgical Treated Patient. Case Report”. Annali Italiani Di Chirurgia, vol. 85, no. 6, Nov. 2014, pp. 596-00, https://annaliitalianidichirurgia.it/index.php/aic/article/view/2597.
Section
Case Report