Fabry Disease Insights

In a study by Lillo et al. (2025), researchers investigated the right atrium's (RA) structural and functional changes in patients with Fabry disease (FD) compared to healthy individuals. They used advanced imaging techniques to measure the heart's strain, which is a way to assess how well the heart muscle moves. The study included 64 patients with FD and 64 controls, finding that the RA and right ventricular dimensions were similar between the two groups. However, the FD patients showed reduced strain in all cardiac chambers, including the RA, when compared to controls. This suggests that FD affects the heart's ability to stretch and contract, even before other signs like left ventricular hypertrophy (LVH) are present.

The study also found that left atrial reservoir strain and left ventricular global longitudinal strain were independently associated with RA strain, meaning they could influence how the RA functions. These findings highlight the potential for using RA strain measurements as an early indicator of heart involvement in FD patients, even before more obvious changes occur. The research underscores the importance of detailed heart assessments in FD patients for early detection and management of cardiac involvement.