Right atrial strain in Anderson-Fabry disease

Area of Science:

• Cardiology
• Genetics
• Echocardiography

Background:

• Limited data exist on right atrial (RA) morphofunctional remodeling in Fabry disease (FD).
• Investigating RA remodeling is crucial for understanding FD's cardiac impact.

Purpose of the Study:

• To assess RA structural and functional remodeling in FD patients versus controls using 2D speckle tracking echocardiography (STE).
• To determine if RA remodeling differs in FD patients with and without left ventricular hypertrophy (LVH).

Main Methods:

• Prospective enrollment of FD patients and matched controls.
• Standard echocardiography and STE to analyze RA, right ventricle (RV), and left ventricle (LV) mechanics.
• FD patients categorized into LVH+ (>12mm wall thickness) and LVH- groups.

Main Results:

• FD patients showed impaired strain in all cardiac chambers, including RA reservoir, contractile, and conduit strains (p < 0.001).
• Reduced RA reservoir and contractile strains were observed in FD patients even without LVH compared to controls (p < 0.001).
• Left atrial reservoir strain and LV global longitudinal strain (LV-GLS) independently correlated with RA mechanics.

Conclusions:

• Impaired RA strain is a common finding in Fabry disease.
• RA reservoir and contractile function deficits occur in FD patients prior to LVH development.
• Left atrial reservoir strain and LV-GLS are independent predictors of RA mechanics in FD.