Ochronotic heart disease leading to severe aortic valve and coronary artery stenosis. J Card Surg 2021 Sep;36(9):3432-3435
Date
06/14/2021Pubmed ID
34120368DOI
10.1111/jocs.15738Scopus ID
2-s2.0-85107782791 (requires institutional sign-in at Scopus site)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 coronary artery bypass grafting in patients with alkaptonuria.
Author List
Velez AK, Gaughan NA, Thomas RP, Schena SAuthor
Stefano Schena MD, PhD Associate Professor in the Surgery department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AlkaptonuriaAortic Valve
Aortic Valve Stenosis
Coronary Stenosis
Humans
Male
Middle Aged
Ochronosis
