Ease of sutureless aortic valve replacement in a patient with unexpected ochronosis: a case report.

ABSTRACT:

Background

Alkaptonuria is a rare congenital metabolic disorder characterized by homogentisic acid accumulation in body cartilage and connective tissues due to a deficient homogentisic acid dioxygenase enzyme. This disorder manifests in various clinical symptoms, including spondyloarthropathy, ocular and dermal pigmentation, genitourinary tract obstruction by ochronosis stones, and cardiovascular system involvement. Cardiac ochronosis is a rare manifestation of alkaptonuria that may present as aortic stenosis, sometimes accompanied by other cardiovascular complications.

Case presentation

We report an unexpected case of ochronosis diagnosed during cardiac surgery. Due to the fragile, thin, and atheromatous nature of the ascending aorta in patients with ochronosis, we opted fo

SUBMITTER: Hosseini S 

PROVIDER: S-EPMC11197252 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature