Case Report: Fabry disease presenting with electrocardiographic findings mimicking acute myocardial infarction: a...

Fabry disease (FD) is a rare X-linked lysosomal storage disorder characterized by heterogeneous clinical manifestations. Cardiac involvement arises from progressive glycosphingolipid accumulation within cardiomyocytes, vascular endothelium, and the conduction system, resulting in left ventricular hypertrophy, conduction abnormalities, and arrhythmias. A subset of patients exhibits electrocardiographic findings that mimic acute myocardial infarction (AMI), often leading to misdiagnosis as ischemic heart disease.

We describe a 62-year-old man presenting with recurrent chest pain and syncope. Initial electrocardiography demonstrated pathological Q waves and ST-segment elevation in the anterior leads. Echocardiography revealed concentric left ventricular hypertrophy. Serial cardiac biomarkers, repeat echocardiography, and coronary angiography excluded AMI. The diagnosis of FD was confirmed by markedly reduced leukocyte α-galactosidase A activity, elevated plasma lyso-Gb3 concentrations, and identification of a pathogenic hemizygous variant in the GLA gene.

In patients with unexplained left ventricular hypertrophy and "pseudo-infarction" electrocardiographic patterns, targeted evaluation for FD is warranted to prevent diagnostic delay and enable timely initiation of enzyme replacement therapy (ERT) and multidisciplinary management.