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Black Aorta from Alkaptonuria.

James P Laurent1, Sean D Galvin1

  • 1Department of Cardiothoracic Surgery, Wellington Regional Hospital, Wellington, New Zealand.

Aorta (Stamford, Conn.)
|October 29, 2021
PubMed
Summary
This summary is machine-generated.

Alkaptonuria, a rare genetic disorder causing ochronosis (tissue pigment deposition), was associated with severe aortic stenosis in a 76-year-old male. Surgical aortic valve replacement revealed a significantly pigmented and porcelain aorta, highlighting ochronosis complications.

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Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Metabolic Disorders

Background:

  • Alkaptonuria is a rare autosomal recessive metabolic disorder caused by deficiency of the enzyme homogentisate 1,2-dioxygenase.
  • This deficiency leads to the accumulation of homogentisic acid (HGA), resulting in ochronosis, a condition characterized by deposition of pigment in connective tissues.
  • Ochronosis can affect various tissues, including cartilage, skin, and the cardiovascular system, potentially leading to valvular and aortic complications.

Purpose of the Study:

  • To report a case of symptomatic aortic stenosis in a patient with a history of alkaptonuria and ochronosis.
  • To describe the intraoperative findings of a severely pigmented and porcelain aorta in this patient.
  • To underscore the potential cardiovascular manifestations of ochronosis.

Main Methods:

  • Case report of a 76-year-old male patient.
  • Review of patient's past medical history including diagnosis of alkaptonuria.
  • Surgical aortic valve replacement procedure.
  • Intraoperative gross examination of the aorta.

Main Results:

  • The patient presented with symptomatic aortic stenosis.
  • During aortic valve replacement, the aorta was observed to be severely pigmented and had a porcelain-like consistency.
  • These findings are consistent with advanced ochronosis affecting the aorta.

Conclusions:

  • Alkaptonuria with ochronosis can lead to significant cardiovascular complications, including severe aortic stenosis and aortic wall pathology.
  • The "porcelain aorta" finding in this case highlights the extensive tissue deposition and calcification associated with long-standing HGA accumulation.
  • This case emphasizes the importance of recognizing and monitoring for cardiovascular involvement in patients with alkaptonuria.