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Aortic valve regurgitation in alkaptonuria
Masaru Yoshikai1, Junichi Murayama, Noriko Yamada
1Department of Cardiovascular Surgery, Shin-Koga Hospital, Kurume City, Fukuoka, Japan. myoshi@toq.ne.jp
The Journal of Heart Valve Disease
|October 12, 2004
Summary
Alkaptonuria typically causes aortic stenosis, but this case shows severe aortic regurgitation due to cusp shrinkage and a fibrous strand. Cardiovascular ochronosis can lead to aortic valve regurgitation.
Area of Science:
- Cardiology
- Genetics
- Rare Diseases
Background:
- Alkaptonuria (AKU) is a rare inherited disorder.
- It is characterized by the deficiency of homogentisate 1,2-dioxygenase.
- AKU leads to the accumulation of homogentisic acid, causing ochronosis.
Observation:
- A 65-year-old male with a history of myocardial infarction presented with heart failure symptoms.
- Diagnosis of alkaptonuria was confirmed by urine color, skin pigmentation, and ochronotic arthropathy.
- Severe aortic valve regurgitation (Grade IV) and mild aortic valve stenosis were observed.
Findings:
- The patient exhibited sclerotic changes and shrinkage of the non-coronary aortic cusp.
- A fibrous strand was found on the left-coronary cusp, tethering it to the aortic wall.
- These structural abnormalities impeded normal aortic valve coaptation, causing severe regurgitation.
Implications:
- This case highlights that cardiovascular ochronosis can manifest as severe aortic valve regurgitation, not just stenosis.
- It suggests a need for increased cardiovascular surveillance in alkaptonuria patients.
- Understanding these mechanisms can improve diagnosis and management of AKU-related cardiac complications.