Echocardiography. 2026 May;43(5):e70475. doi: 10.1111/echo.70475.
ABSTRACT
BACKGROUND: Gaucher disease type 1 (GD1) is a rare, multisystemic lysosomal storage disorder in which cardiac involvement may remain clinically silent for years. Conventional echocardiographic indices often fail to detect early myocardial dysfunction. Speckle-tracking echocardiography (STE) allows the assessment of subclinical myocardial deformation and may provide incremental prognostic information. This study aimed to investigate the association between ventricular deformation parameters and worsening disease severity, assessed by the Disease Severity Scoring System (DS3), using a bootstrap-based statistical approach suitable for rare disease cohorts.
METHODS: Patients with GD1 underwent comprehensive transthoracic echocardiography, including STE-derived left ventricular global longitudinal strain (LV GLS) and right ventricular (RV) longitudinal strain analysis. Conventional systolic parameters were also recorded. Multivariable regression analysis was performed to identify independent predictors of worsening DS3 score. To enhance statistical robustness in this small cohort, bootstrapping with 10 000 resamples was applied.
RESULTS: Conventional systolic parameters, including left ventricular ejection fraction, tricuspid annular plane systolic excursion, peak systolic velocity of the tricuspid annulus, and RV fractional area change, were within normal ranges and did not differ significantly between GD1 patients and healthy controls (p = NS for all). In contrast, STE revealed significantly reduced longitudinal deformation in GD1 patients for both the LV (-20.1% ± 1.3 vs. -22.4% ± 2.6, p = 0.029) and RV (-22.2% ± 2.3 vs. -25.4% ± 3.7, p = 0.036). In the bootstrap-adjusted multivariable model, LV GLS was the only independent predictor of worsening DS3 score (B = 26.024, p < 0.001; 95% CI: 2.669-47.893).
CONCLUSION: Myocardial deformation abnormalities precede detectable changes in conventional systolic indices in GD1. LV GLS is a robust and independent predictor of increasing disease severity. STE may therefore represent a valuable tool for early detection of subclinical cardiac involvement and risk stratification in this rare disease population.
PMID:42035441 | DOI:10.1111/echo.70475
