Ochronotic heart disease leading to severe aortic valve and coronary
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.