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Ochronotic heart disease leading to severe aortic valve and coronary artery stenosis
Author(s) -
Velez Ana K.,
Gaughan Natalie A.,
Thomas Rosmi P.,
Schena Stefano
Publication year - 2021
Publication title -
journal of cardiac surgery
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.428
H-Index - 58
eISSN - 1540-8191
pISSN - 0886-0440
DOI - 10.1111/jocs.15738
Subject(s) - medicine , alkaptonuria , cardiology , ochronosis , stenosis , coronary artery disease , coronary arteries , interventricular septum , aortic valve , aortic valve replacement , artery , surgery , ventricle , dermatology
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.