Persistent troponin elevation in the heart of Fabry disease due to coronary microvascular dysfunction

Clement Tan1, Mark Daniel Higgins1, Zhihua Zhang1

  • 1Department of Cardiology, Coronary Care Unit & Cardiac Catheterisation Laboratory, Mackay Base Hospital, QLD, Australia.

Insights

Fabry disease, a genetic disorder, can cause heart problems in women. This case highlights coronary microvascular dysfunction as a cause of chest pain and heart injury in older women with Fabry disease.

Area of Science:

  • Genetics
  • Cardiology
  • Rare Diseases

Background:

  • Fabry disease is a rare X-linked lysosomal storage disorder.
  • It results from alpha-galactosidase A deficiency due to GLA variants.
  • The heterozygous phenotype often affects the heart.

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