Clinical study of left ventricular structure and function in patients with Anderson-Fabry disease before and after...

Area of Science:

• Cardiology
• Medical Imaging
• Genetics

Background:

• Cardiac involvement, specifically left ventricular hypertrophy (LVH), is a common hallmark of Anderson-Fabry disease (AFD).
• Conventional cardiac imaging methods often lack the sensitivity to detect early-stage LVH in AFD patients.
• The impact of enzyme replacement therapy (ERT) on LVH progression and myocardial function in AFD remains incompletely understood.

Purpose of the Study:

• To evaluate the efficacy of two-dimensional speckle tracking echocardiography (2D-STE) for the early detection of cardiac abnormalities in AFD.
• To assess the effectiveness of agalsidase alfa and agalsidase beta therapy in managing cardiac involvement in AFD.
• To investigate the relationship between plasma Lyso-GL-3 concentrations and cardiac function post-ERT.

Main Methods:

• Standard transthoracic 2D, color Doppler, and tissue Doppler echocardiography were performed.
• Two-dimensional speckle tracking echocardiography (2D-STE) was utilized to measure global longitudinal strain (GLS), global circumferential strain (GCS), and diastolic strain rate (SR).
• Measurements were compared between 13 AFD patients and 12 healthy controls, with post-treatment assessments.

Main Results:

• AFD patients, even without overt LVH, exhibited reduced GLS and SR compared to controls.
• No significant difference in GCS was observed between AFD patients and controls.
• Following ERT, a significant improvement in apical circumferential strain (ACS) was noted in AFD patients.

Conclusions:

• Early cardiac dysfunction in AFD, characterized by reduced global and segmental longitudinal strain, is detectable by 2D-STE.
• Elevated plasma Lyso-GL-3 concentrations correlated with increased ACS post-ERT, suggesting its role in early LV dysfunction.
• 2D-STE is a valuable tool for monitoring cardiac involvement and therapeutic response in AFD.