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Aortic valve replacement in cardiac ochronosis
1Department of Cardiac Surgery, University Hospital, Gasthuisberg, Leuven, Belgium.
Summary
Generalized ochronosis can cause cardiac ochronosis, leading to aortic valvular stenosis. Two patients required aortic valve replacement due to this rare cardiovascular complication.
Area of Science:
- Cardiology
- Genetics
- Rare Diseases
Background:
- Generalized ochronosis is a rare inherited metabolic disorder.
- It is characterized by the deposition of homogentisic acid in connective tissues.
- Cardiac involvement, known as cardiac ochronosis, is a potential complication.
Observation:
- Two patients with generalized ochronosis presented with cardiovascular symptoms.
- Both patients exhibited signs of aortic valvular stenosis.
- One patient had a significant pressure gradient (150 mm Hg) requiring emergency surgery.
Findings:
- Cardiac ochronosis manifested as severe aortic valvular stenosis in both patients.
- One patient underwent emergency aortic valve replacement due to a 150 mm Hg transvalvular pressure gradient.
- The other patient, with a 96 mm Hg gradient, had a successful elective aortic valve replacement.
Implications:
- Aortic valvular stenosis is the most frequent presenting feature of cardiac ochronosis.
- Cardiologists should consider cardiac ochronosis in patients with generalized ochronosis presenting with valvular disease.
- Early recognition and surgical intervention are crucial for managing this rare condition.