Anderson Fabry disease (AFD) is a rare intracellular lipid disorder which can lead to myocardial fibrosis. We propose that besides late gadolinium enhancement, T1-mapping might allow an early detection of cardiac involvement. Furthermore MRI findings may correlate with serum biomarkers indicating myocardial damage.

46 patients (20 LGE positive [group1], 26 LGE negative [group2]) with manifest AFD and 28 healthy subjects [group3] were examined. T1-mapping was performed with a modified Look-Locker IR-sequence (MOLLI) at 3T after i.v. gadolinium administration. We performed ROI-based analysis (Fig. 1), results were derived from 8 slices (6 ROIs/slice). Absolute T1 values were compared in between those three groups. Futhermore,T1-valueswere correlated with the biochemical markers NT-proBNP, Troponin T and lyso-Gb3.

Final results show visible changes in the T1-maps wherever fibrosis in LGE imaging was observed (Fig. 2 + 3). Absolute T1-values for several ROIs were significantly lower in group 1 compared to group 2 and 3 (inferolateral wall: p<0.01; others: p<0.05), even in areas where no fibrosis was detected by LGE imaging (anterior and septal wall). NT-proBNP and Troponin T levels were significantly higher in group 1 compared to group 2 (p<0,01). Lyso-Gb3 serum levels were elevated in 100%[group 1]and 86%[group 2]of patients.

Our data suggest that T1-mapping is a sensitive tool to detect early replacement fibrosis in AFD, and might be more sensitive than visual LGE analysis in the detection of regional 　myocardial involvement. Elevated levels of Troponin T and NT-proBNP indicate myocardial involvement and correlate with findings in cardiac MRI.