Right ventricular strain in Anderson-Fabry disease

Area of Science:

• Cardiology
• Medical Imaging
• Genetics

Background:

• Fabry disease is a genetic disorder that can affect the heart.
• Subtle right ventricle (RV) systolic dysfunction may be missed by standard echocardiography.
• 2D speckle tracking echocardiography (2DSTE) offers improved assessment of RV function.

Purpose of the Study:

• To determine if 2DSTE can detect early RV systolic dysfunction in Fabry disease patients.
• To investigate the preservation of the physiological difference between RV free-wall strain (RV-FWS) and RV global longitudinal strain (RV-GLS) in Fabry patients.

Main Methods:

• 49 Fabry patients and 49 controls underwent standard echocardiography and 2DSTE.
• Fabry patients were categorized based on left ventricular hypertrophy (LVH).
• RV systolic function was assessed using standard echocardiography, RV-GLS, and RV-FWS.

Main Results:

• Standard echocardiography showed normal RV function in most Fabry patients (92%).
• RV-GLS and RV-FWS were impaired in approximately 40% of Fabry patients.
• Impairment was significantly greater in Fabry patients with LVH compared to those without LVH and controls.

Conclusions:

• Impaired RV-GLS and RV-FWS are common in Fabry cardiomyopathy.
• RV strain is preserved in Fabry patients without evident cardiac involvement.
• The physiological difference between RV-FWS and RV-GLS remains consistent in Fabry patients, irrespective of cardiomyopathy presence.