What question did this study set out to answer?

This study aims to explore the relationship between LV GLS response to ERT and MACE risk in Fabry patients.

February 6, 2026

Prognostic impact of LV GLS response in Fabry patients on enzyme replacement therapy

HCH C ChangTaipei Veterans General Hospital LKLing KuoNational Yang Ming Chiao Tung University WYW C YuNational Yang Ming Chiao Tung University

Key Points

This study aims to explore the relationship between LV GLS response to ERT and MACE risk in Fabry patients.
Conducted a retrospective cohort study using a single-center registry.
Measured LV GLS via speckle-tracking echocardiography before and one year after ERT.
Calculated percent change in LV GLS between baseline and one-year follow-up.
Primary outcome assessed was composite MACE at five years.
Patients receiving ERT showed a slower decline in LV GLS (-1.8%) compared to those not on ERT (-15.1%).
10.2% of patients experienced MACE over a median follow-up of 60 months.
LV GLS decline of less than 10% was linked to significantly lower MACE risk (log-rank P= 0.001).
Reduction in LV GLS over 10% correlated with an increased MACE risk (adjusted hazard ratio: 8.66, P= 0.01).

Abstract

Abstract Background Fabry cardiomyopathy is associated with an increased risk for major cardiovascular events (MACE) and premature mortality. While enzyme replacement therapy (ERT) remains the cornerstone of treatment, pragmatic tools to monitor treatment response are lacking. Purpose We aim to investigate the association between the response of left ventricular (LV) global longitudinal strain (GLS) after starting ERT and its impact on MACE in patients with Fabry disease. Methods We conducted a retrospective cohort study using a single-center registry of adult patients with Fabry disease. LV GLS was measured by speckle-tracking echocardiography and reported as absolute values. The change in LV GLS was calculated as the percent change of GLS between baseline and one year after ERT. The primary outcome was a composite of MACE at five years, including all-cause mortality, heart failure hospitalization, sustained ventricular tachycardia, acute ischemic stroke, and permanent pacemaker implantation. Results This study included 162 patients with Fabry disease (age 53.4 ± 14.5 years, 52.5% men), 86.4% of whom carried the IVS4+919GA mutation. Among them, 88 patients received ERT. After one year, patients receiving ERT exhibited a trend of slower decline in LV GLS compared to those not receiving ERT (-1.8% vs. -15.1%; P= 0.08) (Figure 1). Over a median follow-up of 60 months, nine patients (10.2%) experienced MACE. Kaplan-Meier analysis showed that patients on ERT with an LV GLS decline of less than 10% had a significantly lower risk for MACE compared to those with a greater decline in LV GLS (log-rank P= 0.001) (Figure 2). In multivariable Cox regression analysis, a reduction in LV GLS of more than 10% was independently associated with an increased risk of MACE over five years (adjusted hazard ratio: 8.66, 95% confidence interval: 1.53-49.18; P= 0.01) after adjusting for age, sex, LV ejection fraction, LV filling pressure, baseline LV mass index, and baseline LV GLS. Conclusion Patients with Fabry disease exhibit diverse clinical presentations and face varying risks for MACE despite treatment. Our study highlights the response of LV mechanical function as a practical tool for monitoring the efficacy of ERT and identifying high-risk patients who may benefit from intensive management.Figure 1.Trend of LV GLS in subgroups Figure 2.Kaplan-Meier curves

Ask AI

Helpful

Bookmark

View Full Paper