SAGE Open Med Case Rep. 2026 Apr 3;14:2050313X261438242. doi: 10.1177/2050313X261438242. eCollection 2026.
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.
PMID:41948370 | PMC:PMC13051149 | DOI:10.1177/2050313X261438242