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Ochronotic heart disease leading to severe aortic valve and coronary artery stenosis

Ana K Velez1, Natalie A Gaughan2, Rosmi P Thomas3

  • 1Division of Cardiac Surgery, Department of Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Journal of Cardiac Surgery
|June 13, 2021
PubMed

Insights

Cardiac ochronosis, a rare complication of alkaptonuria, can cause severe heart issues. This case highlights significant cardiac pigment deposition, emphasizing the need for further research into this underrecognized condition.

Area of Science:

  • Cardiology
  • Genetics
  • Rare Diseases

Background:

  • Cardiac ochronosis is a rare manifestation of alkaptonuria, a genetic disorder.
  • Musculoskeletal effects are well-documented, but cardiac involvement is less understood.
  • Existing data primarily comes from case reports and series.

Observation:

  • A 64-year-old patient with alkaptonuria presented with dyspnea and weight loss.
  • Cardiac evaluation revealed severe aortic stenosis, coronary artery disease, and septal hypertrophy.
  • Surgical findings showed extensive ochronotic pigment deposition in the heart and arteries.

Findings:

  • Ochronotic pigment deposition significantly impacted the cardiac septum, coronary arteries, and aortic valve.
  • The patient exhibited severe aortic stenosis and coronary artery disease.
  • Interventricular septal hypertrophy was also noted.

Implications:

  • Ochronotic heart disease is an underrecognized complication of alkaptonuria.
  • Further research is crucial to understand disease progression and long-term outcomes.
  • Investigating outcomes after cardiac surgery (valve replacement, bypass grafting) in these patients is essential.

Keywords:
alkaptonuriaaortic valve stenosiscardiovascular ochronosiscardiovascular pathologycoronary artery disease

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