Biventricular strain assessment indicates progressive impairment of myocardial contractility in phenotypically negative patients with Fabry's disease.

The accumulation of sphingolipids in Fabry's disease (FD) leads to left ventricular (LV) hypertrophy and shortened T1 in cardiac magnetic resonance (CMR). Early detection of myocardial involvement is essential for the timely initiation and efficacy of enzyme replacement therapy. However, there is a diagnostic gap between the onset of accumulation and detectable myocardial changes. This study aimed to evaluate the diagnostic value of biventricular strain assessment in early FD. Genetically proven FD patients (n = 58) and healthy volunteers (HV, n = 62) who had undergone 3 T CMR were retrospectively identified and stratified into 3 groups according to disease severity. Biventricular volumetry, global longitudinal strains (GLS), indexed biventricular masses (RVMi/LVMi), and T1 were evaluated. Group comparisons were performed by ANOVA and diagnostic accuracy was evaluated by ROC-analysis. The study population included 19 group I, 20 group II and 19 group III patients. LV volumetry and T1 showed no significant difference between early FD patients and HV (all p > 0.760). However, RVMi was increased, while RV-GLS and LV-GLS were significantly impaired (p = 0.024 and < 0.001, respectively). Biventricular strains accurately discriminated early FD patients and HV with RV-GLS being non-inferior to LV-GLS (AUC for both 0.83, p > 0.05). Adding strains to the established approach using T1 and LVMi further increased diagnostic accuracy (AUC 0.99, p < 0.05). Biventricular strains may help detect altered myocardial deformation patterns in phenotypically negative FD patients. These findings may lead to an earlier initiation of therapy, which in turn may slow hypertrophy and the associated long-term risks.

Informations de copyright

Copyright © 2022 Elsevier B.V. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Competing Interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: The authors of this manuscript declare relationships with the following companies: UJS has received institutional research support and/or honoraria for speaking and consulting from Astellas, Bayer, Bracco, Elucid BioImaging, General Electric, Guerbet, HeartFlow Inc., and Siemens Healthineers. AVS receives institutional research support and travel support from Siemens Healthineers and is consultant for Bayer and Elucid Bioimaging. TE has received a speaker fee and travel support from Siemens Healthineers. None of these companies supported this study and none of the other authors report a conflict of interest.