Myocardial inflammation and scar expansion in patients with Anderson-Fabry disease.

内容摘要

Anderson-Fabry Disease (AFD) is a lysosomal storage disorder characterized by glycosphingolipid accumulation, leading to multi-organ failure. Cardiac involvement, marked by left ventricular (LV) hypertrophy and fibrosis, is a major cause of mortality. Myocardial inflammation is a frequent finding in these patients, but its role across disease stages remains unclear. This pilot study investigates the association between myocardial inflammation, assessed via cardiac magnetic resonance (CMR) T2 mapping (T2m), and cardiac damage progression, measured by late gadolinium enhancement (LGE) expansion. This retrospective, single-center study, includes 131 paired CMR scans (1.5T, Philips Ingenia) collected between June 2018 and December 2023 from 41 AFD patients. Cine imaging, T2m, and LGE sequences were acquired in all. Scans were categorised based on quantitative LGE changes into three groups: LGE- (no LGE), LGE= (stable LGE compared to the previous scan), and LGE+ (new/increased LGE compared to the previous scan). T2m was measured globally, in the basal slice (B T2m), infero-lateral basal segment (ILB T2m), and in LGE-matching regions. The sample consisted of 61% women (average of 3±1 scans/patient); at baseline, mean age was 44±18 years, the LV mass was 58±24g/m2. The average time between CMR scans was 14±4 months. In LGE-matching regions, T2m was significantly higher in LGE+ scans compared to LGE= (62ms vs 56ms, p=0.03), and ILB T2m was higher in LGE+ than LGE- (56ms vs 50ms, p=0.007). No other significant differences were observed. In AFD patients, we demonstrated an association between myocardial inflammation and LGE expansion, with T2m potentially serving as an early marker of disease activity. Region-specific T2m measurement is particularly useful in this disease Further research is needed to understand whether T2m changes precedes structural myocardial damage and assess T2m's prognostic value in AFD.