Comparison of classical Fabry and its p.D313Y and p.A143T variants by cardiac T1 mapping, LGE and feature tracking myocardial strain

Abstract

Cardiac manifestation of classical Fabry disease (cFD) varies with sex and presence of left ventricular hypertrophy. p.D313Y/p.A143T variants (vFD) represent milder late-onset phenotypes, however, data on vFD are scarce. Patients with FD (cFD = 37;vFD = 14) and 14 healthy controls underwent 1.5 T CMR including Cine, LGE, native T1 mapping(nT1) and myocardial strain(CMR-FT). CMR-FT was assessed using ventricular longitudinal, circumferential, radial (LV-GLS/RV-GLS, LV-GCS/LV-GRS), and atrial longitudinal strain (LA/RA_Total, LA/RA_Conduit, LA/RA_Booster). In cFD reduced myocardial strain (LV-GLS: -20 ± 4 vs. -24 ± 3%,p = 0.007; LV-GCS: -20 ± 4 vs. -26 ± 4%,p = 0.002, LA _Total -GLS: 29 ± 10 vs. 37 ± 6%,p = 0.007; LA _Conduit -GLS: 15 ± 10 vs. 23 ± 5%,p = 0.003) and nT1 values (951 ± 51 ms vs. 1036 ± 20 ms, p < 0.001) were observed compared to controls. In vFD findings were comparable to controls. LV-GCS provided the closest Area under the curve (AUC) to nT1 (0.84 vs. 0.92, p > 0.05) for discrimination of cFD versus controls. Significantly lower LV-GLS/LV-GCS was found in male compared to female cFD (-19 ± 4 vs. -22 ± 4%, p = 0.03). In six non-hypertrophied female cFD with normal nT1 LA_Total -GLS was the only discriminating parameter with an accuracy of 86%. LV-GLS, LV-GCS and LA_Total -GLS can detect impaired cardiac mechanics of cFD besides nT1. LA_Total -GLS might identify non-hypertrophied female cFD. Variants p.D313Y/p.A143T did not reveal cardiac involvement by multiparametric CMR.