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Ochronotic heart disease leading to severe aortic valve and coronary artery stenosis
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  • Ana Velez,
  • Natalie Gaughan,
  • Rosmi Thomas,
  • Stefano Schena
Ana Velez
Johns Hopkins University School of Medicine
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Natalie Gaughan
Florida Atlantic University Charles E Schmidt College of Medicine
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Rosmi Thomas
Philadelphia College of Osteopathic Medicine
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Stefano Schena
Johns Hopkins University School of Medicine
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Abstract

Cardiac ochronosis is a rare disease, estimated to affect 1 in 250,000 persons. While there is extensive evidence of the musculoskeletal alterations of the disease, cardiac involvement has not been widely studied and most information we currently have derives from case reports and case series. We report the case of a 64-year old patient with a known history of alkaptonuria who presented with dyspnea and weight loss. On evaluation, he was found to have severe aortic stenosis, coronary artery disease, and interventricular septal hypertrophy. Surgery revealed extensive ochronotic pigment deposition affecting the cardiac septum, both internal thoracic arteries, the native coronary arteries, and the aortic valve. Ochronotic heart disease is an often disregarded presentation of alkaptonuria. More information is needed on the course of the disease, as well as long-term outcomes after valve replacement surgery and/or CABG in patients with alkaptonuria.

Peer review status:ACCEPTED

03 May 2021Submitted to Journal of Cardiac Surgery
04 May 2021Submission Checks Completed
04 May 2021Assigned to Editor
07 May 2021Reviewer(s) Assigned
16 May 2021Review(s) Completed, Editorial Evaluation Pending
16 May 2021Editorial Decision: Revise Major
20 May 20211st Revision Received
21 May 2021Submission Checks Completed
21 May 2021Assigned to Editor
21 May 2021Reviewer(s) Assigned
21 May 2021Review(s) Completed, Editorial Evaluation Pending
23 May 2021Editorial Decision: Accept