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Mitral stenosis in pseudoxanthoma elasticum.

K Fukuda1, K Uno, T Fujii

  • 1Department of Internal Medicine, Keio University, Tokyo, Japan.

Chest
|June 1, 1992
PubMed
Summary
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Pseudoxanthoma elasticum can cause severe mitral stenosis, a rare heart valve condition. This case highlights the need to consider this genetic disorder in differential diagnoses for mitral stenosis.

Area of Science:

  • Cardiology
  • Genetics
  • Valvular Heart Disease

Background:

  • Pseudoxanthoma elasticum (PXE) is a rare genetic disorder affecting connective tissue, primarily the skin and eyes.
  • PXE can manifest in the cardiovascular system, potentially leading to arterial calcification and valvular abnormalities.

Observation:

  • A 54-year-old woman with known PXE presented with symptoms suggestive of mitral stenosis.
  • Initial assessment revealed systemic hypertension and moderate mitral regurgitation secondary to mitral valve prolapse.
  • Over one year, progressive thickening of the mitral valve leaflets occurred, leading to severe mitral stenosis without regurgitation.

Findings:

  • The case demonstrates a rare presentation of PXE leading to the development of tight mitral stenosis.
  • The progression from mitral regurgitation to stenosis suggests a unique pathophysiological process in this patient.

Related Experiment Videos

  • Histopathological changes in the mitral valve consistent with PXE were likely responsible for the valvular dysfunction.

    • Implications:

    • This case expands the spectrum of cardiovascular manifestations associated with pseudoxanthoma elasticum.
    • It underscores the importance of considering PXE as a differential diagnosis in patients presenting with unexplained mitral stenosis.
    • Further research into the mechanisms of valvular involvement in PXE may inform diagnostic and therapeutic strategies for this rare condition.