Quantification of myocardial deformation in patients with Fabry disease by cardiovascular magnetic resonance feature...

Cardiac involvement is a major contributor of morbidity and mortality in Fabry disease (FD). Early detection and accurate evaluation of the disease progression is important in management. Cardiovascular magnetic resonance (CMR) derived feature fracking (FT) is a validated quantitative method of assessing myocardial deformation which may reflect early changes of myocardial function and track disease severity. We sought to evaluate the utility of CMR-FT as a measure of myocardial dysfunction in FD.

Twenty FD patients (12 males, 40.8±14.9 years) and 20 age and sex matched healthy controls (10 males, 40.5±7.2 years) were prospectively enrolled. Subjects underwent CMR including cine, pre-/post-contrast T1 mapping and late gadolinium enhancement (LGE). FD patients were divided into three groups; group 1: patients without left ventricular hypertrophy (LVH) and LGE negative; group 2: patients with LVH positive, LGE either positive or negative; group 3: patients with LGE positive, LV wall thinning and heart failure. FT derived strain indices were measured and its associations with other processes were investigated.

In FD patients, 14 (70%) had LVH and 4 (20%) had LGE. Compared with normal controls, LV global longitudinal strain (GLS) were reduced significantly in all three Fabry groups (all P<0.05), global circumferential strain (GCS) were reduced only in group 2 and group 3 (P<0.05). Among three FD groups, there were significant differences of LV GLS, GCS, native T1 value and extracellular volume fraction (ECV) (all P<0.01), group 1 had mild LV strain indices impairment, group 3 had the most severe LV strain indices. When compared between FD subgroups, GLS and GCS showed significant difference between each two groups (all P<0.05). There were weak correlations between the LV functional parameters (ejection fraction, LV mass index), maximal wall thickness, T1 mapping indices (native T1, ECV) and LV strain indices. The strongest relation was between global longitudinal early diastolic strain rate and native T1 value (r=0.783, P<0.01).

CMR strain imaging identifies myocardial deformation in FD in different stages. Strain imaging can track disease severity and may be an alternative method for follow-up of FD patients.