Three-dimensional left ventricular strain analysis in Fabry disease: correlation with heart failure severity, myocardial scar and impact on long-term prognosis

Abstract

Abstract Funding Acknowledgements Type of funding sources: Public Institution(s). Main funding source(s): Charles University Research program “Cooperatio - Cardiovascular Science”. Introduction Fabry disease (FD) is a multisystemic lysosomal storage disorder caused by a defect in the gene coding the alpha-galactosidase A enzyme. Cardiac involvement typically manifests as a phenocopy of hypertrophic cardiomyopathy. Three-dimensional echocardiography can analyze myocardial deformation of the left ventricle (LV) in both circumferential and longitudinal dimensions. Purpose We assessed 3D echocardiographic strain of the LV in FD patients in relation to heart failure severity, the presence of cardiovascular magnetic resonance (CMR) scar and long-term prognosis. Methods 3D echocardiography was feasible in 75/99 FD patients. Baseline natriuretic peptides and CMR late gadolinium enhancement were assessed together with long term outcome (death, heart failure decompensation or cardiovascular hospitalization) over a median follow-up of 3.1 years. Results The average age was 47 ± 14 years, 44% of patients were male and 51% expressed hypertrophy or concentric remodeling of the LV. Average LV ejection fraction (EF) was 65 ± 6%. A stronger correlation was observed for NTproBNP levels with 3D global longitudinal strain (GLS) (r = 0.49, p < 0.0001) than with 3D global circumferential strain (GCS) (r = 0.38, p < 0.001). LV EF by 3D weakly correlated with NTproBNP levels (r = 0.25, p = 0.036). Individuals with posterolateral scar on CMR had significantly lower local 3D circumferential strain at corresponding region (p = 0.008). 3D GLS was associated with long-term outcome (adjusted HR 0.84, CI 0.75, 0.95, p = 0.004) while 3D GCS was not (HR 0.94, CI 0.85 – 1.10, p = 0.284). 3D LV EF was not associated with long-term outcome. Conclusion 3D GLS is strongly associated with both heart failure severity measured as natriuretic peptides levels and long-term prognosis. Only borderline association of 3D GCS with HF severity and no association with prognosis was observed. Decreased local 3D CS reflects typical posterolateral scarring in FD. Where feasible, 3D-strain echocardiography can be used for comprehensive mechanical assessment of the LV in FD patients.