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

SUBMITTER: Avanesov M 

PROVIDER: S-EPMC10086062 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature