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Mattias Roser, Johannes Möller, Takeshi Komoda, Christoph Knosalla, Philipp Stawowy, Alkaptonuric aortic stenosis, European Heart Journal, Volume 29, Issue 4, February 2008, Page 444, https://doi.org/10.1093/eurheartj/ehm406
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A 71-year-old male patient was referred for the evaluation of a high-grade aortic stenosis. His medical history revealed prosthetic hip and joint replacement due to degenerative arthritis at the age of 55. On physical examination, a 2/4 systolic ejection murmur at the right upper sternal border, kyphosis, and a bluish-black discolouration of the sclera and auriculum were noted (Panels A and B). The patient reported that his urine darkens since childhood (Panel C). Cardiac catheterization demonstrated a severely calcified aortic stenosis (aortic valve area 0.4 cm2/m2 body surface; Panel D). On operation, bluish-black discolouration of the aortic intima and extensive calcification and discolouration of the tricuspid aortic valve were found (Panels E and F). On the basis of the bluish-black discolouration of collagenous tissue (sclera, auriculum, aortic valve), history of degenerative arthropathy, and blackening of the urine on standing, diagnosis of alkaptonuria was made and confirmed by increased urinary excretion of homogentisic acid (HGA).
