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Updated: Mar 10, 2026
08:18
High-Accuracy Correction of 3D Chromatic Shifts in the Age of Super-Resolution Biological Imaging Using Chromagnon
Published on: June 16, 2020
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Operating the blues
Andrew C Chatzis1, Meletios A Kanakis1, Joanne Sofianidou2
1Department of Paediatric and Congenital Cardiac Surgery Onassis Cardiac Surgery Centre Athens Greece.
Clinical Case Reports
|December 17, 2016
Summary
Alkaptonuria, a rare genetic disorder, can lead to serious heart problems like aortic stenosis. This case highlights the importance of recognizing cardiac issues in patients with alkaptonuria.
Area of Science:
- Cardiology
- Genetics
- Metabolic Disorders
Background:
- Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder.
- It is characterized by the deficiency of the enzyme homogentisate 1,2-dioxygenase, leading to the accumulation of homogentisic acid.
- This accumulation causes ochronosis, a bluish-black discoloration of connective tissues, and can manifest with degenerative arthritis and dark urine.
Purpose of the Study:
- To report a case of aortic valve replacement in a patient with alkaptonuria.
- To emphasize aortic stenosis as a significant cardiac manifestation of alkaptonuric ochronosis.
Main Methods:
- Case report of a 63-year-old male patient with known alkaptonuria.
- Clinical presentation included facial pigmentation, degenerative arthritis, and dark urine.
- Surgical intervention: aortic valve replacement for critical aortic stenosis.
Main Results:
- The patient presented with classic signs of alkaptonuria.
- Critical aortic stenosis was diagnosed and required surgical intervention.
- Aortic valve replacement was successfully performed.
Conclusions:
- Aortic stenosis, though rare, is the most common cardiac complication associated with alkaptonuric ochronosis.
- This case underscores the need for vigilance regarding cardiovascular health in patients diagnosed with alkaptonuria.
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