Aortic Stenosis with Alkaptonuria

VernacularTitle:大動脈弁狭窄症に対して外科的大動脈弁置換術を契機に診断したアルカプトン尿症の1例
Author: Yotaro MORI ¹ ; Noriyuki TAKASHIMA ¹ ; Shunta MIWA ¹ ; Yuji MATSUBAYASHI ¹ ; Naoshi MINAMIDATE ¹ ; Masahide ENOMOTO ¹ ; Kenichi KAMIYA ¹ ; Tomoaki SUZUKI ¹
Author Information

1. Division of Cardiovascular Surgery, Department of Surgery, Shiga University of Medical Science
Keywords: Alkaptonuria; aortic valve stenosis; metabolism abnormality; ochronosis
From:Japanese Journal of Cardiovascular Surgery 2022;51(6):350-353
CountryJapan
Language:Japanese
Abstract: A 72-year-old female received surgical aortic valve replacement for severe aortic stenosis in our hospital. During surgery, black pigmentation was observed in the aortic valve, aorta intima and mitral valve anterior leaflet collocated with calcification. We suspected Alkaptonuria (AKU) as a possible diagnosis for those surgical findings, past medical history and physical findings. A urine test for organic acids showed homogentisic, confirming the diagnosis of AKU. AKU is very rare genetic metabolic abnormality that occurs in about 1 in 25,000 to 100,000 people. AKU involves deficiency in the gene coding for HGA-1,2-dioxygenase, which metabolizes homogentisic acid to maleylacetoacetic acid in the tyrosine metabolic pathway. HGA accumulates in the body, causing black pigmentation in places including the aorta intima and mitral valve.