Case report highlights persistent troponin elevation in a woman with Fabry disease, suggesting coronary microvascular dysfunction.
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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Tan et al. (2026) studied this question.
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