A case of cardiac involvement in Fabry disease caused by the p.D313Y variant of the GLA-gene

This case highlights myocardial involvement in p.D313Y-associated Fabry disease (vFD) in the absence of LVH or classical symptoms. CMR, particularly native T1 mapping, proved useful in identifying early myocardial changes. The findings suggest that even patients with vFD and no LVH may develop significant cardiac pathology. This case emphasizes the importance of considering FD in patients with unexplained cardiac symptoms and unremarkable coronary findings. Further research is needed to assess the potential benefits of early intervention with enzyme replacement or chaperone therapy in vFD.