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Ochronosis and aortic valve stenosis.
Jagdish W Butany1, Ather Naseemuddin, Yaron Moshkowitz
1Department of Pathology, University Health Network, Toronto, Canada. Jagdish.butany@uhn.on.ca
Journal of Cardiac Surgery
|February 24, 2006
Summary
Alkaptonuria, a rare metabolic disorder, causes homogentisic acid buildup, leading to heart valve pigmentation and dysfunction. This can necessitate prosthetic valve replacement in affected patients.
Area of Science:
- Biochemistry
- Cardiology
- Genetics
Background:
- Valvular heart disease stems from diverse causes, often requiring prosthetic valve replacement.
- Inborn errors of metabolism represent a rare etiology for valvular pathology.
Observation:
- Alkaptonuria, an autosomal recessive metabolic disorder, leads to homogentisic acid accumulation.
- This results in ochronotic pigment deposition in various tissues, including heart valves.
Findings:
- Homogentisic acid deposition in heart valves triggers inflammation.
- Pigment accumulation contributes to progressive valvular dysfunction and disease.
Implications:
- Understanding alkaptonuria's cardiac impact is crucial for patient management.
- Early recognition may guide interventions to prevent severe valvular complications.