Ochronosis as an unusual cause of valvular defect: a case report

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Abstract

Abstract
Introduction
Alkaptonuria (also known as ochronosis) is a genetic disorder characterised by the accumulation of homogentisic acid deposits in connective tissue. In rare cases, ochronosis can cause valvular heart disease.

Case presentation
We present the case of a 68-year-old Caucasian man with alkaptonuria-associated degenerative valvular defects with aortic, mitral and tricuspid valve insufficiency. The patient did not have any cardiac complaints and was referred to our clinic for evaluation of a conspicuous new heart murmur.

Conclusion
This case report shows that early diagnosis of cardiovascular ochronosis gives us the opportunity to use conservative treatment to slow down the progression of valvular dysfunction.

Pages

Introduction
Alkaptonuria is a rare autosomal-recessive metabolic disorder characterised by the deficiency of homogentisic 1,2-dioxygenase (HGO) [1]. Due to the lack of this enzyme, homogentisic acid cannot be metabolised and is deposited within various tissues of the body as a polymerised product. The common clinical manifestations of alkaptonuria are (i) homogentisic aciduria, (ii) ochronosis (deposition of bluish-black pigment in all connective tissues), and (iii) arthritis. While alkaptonuria itself is asymptomatic, ochronosis usually develops in the fourth decade of life. There is no cure for alkaptonuric ochronosis and the aim of treatment is to prevent complications.

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References
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