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.<h4>Conclusion</h4>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. This evidence concerns the gene GLA and Fabry disease.