Aortic Stenosis with Alkaptonuria

DOI Web Site 10 References
  • Mori Yotaro
    Division of Cardiovascular Surgery, Department of Surgery, Shiga University of Medical Science
  • Takashima Noriyuki
    Division of Cardiovascular Surgery, Department of Surgery, Shiga University of Medical Science
  • Miwa Shunta
    Division of Cardiovascular Surgery, Department of Surgery, Shiga University of Medical Science
  • Matsubayashi Yuji
    Division of Cardiovascular Surgery, Department of Surgery, Shiga University of Medical Science
  • Minamidate Naoshi
    Division of Cardiovascular Surgery, Department of Surgery, Shiga University of Medical Science
  • Enomoto Masahide
    Division of Cardiovascular Surgery, Department of Surgery, Shiga University of Medical Science
  • Kamiya Kenichi
    Division of Cardiovascular Surgery, Department of Surgery, Shiga University of Medical Science
  • Suzuki Tomoaki
    Division of Cardiovascular Surgery, Department of Surgery, Shiga University of Medical Science

Bibliographic Information

Other Title
  • 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

Search this article

Abstract

<p>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.</p>

Journal

References(10)*help

See more

Keywords

Details 詳細情報について

Report a problem

Back to top