Abstract Background Inflammation plays a central role in the pathophysiology of Fabry disease (FD) and can be assessed non-invasively using cardiac magnetic resonance (CMR) with T2 mapping. However, its significance in the progression of FD cardiomyopathy remains unclear. Objective To evaluate the relationship between CMR T2 values and the progression of tissue alterations, specifically late gadolinium enhancement (LGE), in patients with FD. Methods A total of 105 pairs of CMR examinations from FD patients were retrospectively analysed and categorised into four groups based on LGE status: A) absence of LGE on both examinations; B) absence of LGE on the first CMR, with new LGE appearance at follow-up; C) presence of LGE on the first CMR that remained unchanged at follow-up; D) presence of LGE on the first CMR that increased at follow-up. T2 was measured in the basal inferolateral segment and, for LGE-positive patients, in the LGE area, with results reported as Z-scores. To increase the sample size, the analysis was repeated including all available pairs of CMR for each patient (185 pairs in total). The association between T2 Z-score and worsening of LGE, as well as the correlation between T2 Z-score and LGE extension, was also tested. Results Among LGE-negative patients at baseline (Groups A and B), the T2 Z-score was significantly higher in Group B compared to Group A, both at the first (A: 0.00 -0.67; 1 vs B: 1.67 0.33; 2.00, p=0.003) and second scans (A: 0.33 -0.33; 1.17 vs B: 3.00 2.67; 5.00, p0.0001), with a greater difference observed following the appearance of LGE in Group B. Among LGE-positive patients at baseline (Groups C and D), the T2 Z-score at the first CMR was higher in Group D than in Group C, reaching borderline statistical significance (Group C: 3.00 2.67; 3.67 vs Group D: 4.00 3.00; 5.00, p=0.07), which became more pronounced and statistically significant after the increase in LGE at follow-up (Group C: 3.00 2.67; 3.67 vs Group D: 5.67 3.67; 6.00, p=0.005). These results were confirmed after including in the analysis all the available pairs of CMR (n=185). A high T2 Z-score at baseline was found to be a predictive factor for the appearance (odds ratio OR 4.74, p=0.0008) or extension (OR 1.57, p=0.02) of LGE, independent of other CMR parameters. Finally, the correlation between T2 Z-score and LGE extension revealed a significant, nearly linear relationship for LGE percentages greater than 10%. Conclusions Myocardial inflammation, as quantified by T2 mapping, is a predictive factor for the progression of FD cardiomyopathy, in terms of both the occurrence and progression of LGE. These data suggest that inflammation plays an active role in the onset and progression of myocardial damage and may represent a potential therapeutic target.
Camporeale et al. (2026) studied this question.