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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.
Abstract:
Fabry disease is a rare X-linked lysosomal storage disorder caused by GLA variants leading to α-galactosidase A deficiency. The heterozygous phenotype predominantly affects the heart. We report a heterozygous woman in her 70s with known Fabry disease presenting with chest pain and palpitations despite well-controlled cardiovascular risk factors. High-sensitivity troponin remained persistently elevated. Coronary angiography showed non-obstructive arteries, and echocardiography revealed left ventricular hypertrophy without outflow tract obstruction. In the absence of epicardial disease, troponin elevation was attributed to coronary microvascular dysfunction, underscoring its role as a key mechanism of ischaemic symptoms and ongoing myocardial injury in Fabry disease.
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