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

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.

KEY WORDS:

Alcaptonuria, Aortic valve, Cardiac ochronosis, Surgery.

• Authors: Mile Vranes, Ilija Bilbija, Aleksandar Mikic, Natasa Kovacevic-Kostic, Radmila Karan, Dejan Nikolic, Biljana Obrenovic-Kircanski, Milos Velinovic
• Journal: Annali italiani di chirurgia (Ann Ital Chir) Vol. 85 Issue 6 Pg. 596-600 ( 2014) ISSN: 2239-253X [Electronic] Italy
• PMID: 25712292 (Publication Type: Case Reports, Journal Article)

Topics

• Aged
• Alkaptonuria (complications, genetics)
• Aortic Valve Stenosis (diagnosis, etiology, genetics, surgery)
• Female
• Humans
• Ochronosis (diagnosis, etiology, genetics, surgery)
• Treatment Outcome