The role of quantitative cardiovascular MRI and late gadolinium enhancement patterns in differentiating late-onset Anderson-Fabry disease (c.640–801G > A) from hypertrophic cardiomyopathy: a case-control study

Aims: To evaluate the utility of cardiovascular magnetic resonance imaging (CMR) in distinguishing Anderson-Fabry disease (AFD) harboring the c.640-801G > A mutation from hypertrophic cardiomyopathy (HCM). Methods and results: We enrolled 30 AFD patients, 30 age- and sex-matched HCM patients, and 30 healthy controls (HC). All participants underwent CMR (3.0 T). Left ventricular hypertrophy (LVH) prevalence was high in both AFD and HCM groups (P = 0.12). AFD patients exhibited significantly greater left ventricular lateral wall thickness compared to both HCM and HC (P < 0.001), and a significantly lower interventricular septal to lateral wall thickness ratio (IVS/LW) than HCM (P < 0.001). Late gadolinium enhancement (LGE) was significantly more frequent in the basal inferolateral and apical segments in AFD compared to HCM (P < 0.001 and P = 0.039, respectively). Native T1 values were significantly lower in AFD than HCM in the global LV, septal LV, and within LGE regions (all P < 0.001). Compared to HC, AFD patients had significantly lower septal native T1 (P < 0.001), but comparable global LV native T1 (P = 0.155). Native T1 cut-offs effectively discriminated AFD from HCM: septal native T1 ≤ 1247 ms, global native T1 ≤ 1256 ms, and LGE region native T1 ≤ 1334 ms. Septal native T1 demonstrated the strongest discriminatory capacity. Conclusion: CMR effectively differentiates AFD patients with the c.640-801G > A mutation from HCM. Key discriminators include lower native T1 values (Caution against pseudo-normalization), higher prevalence of basal inferolateral LGE, and more symmetric LVH in AFD.