Analysis of features of three-dimensional echocardiography in patients with Fabry disease induced by GLA mutation

Objective To evaluate the changes of endocardial echo and left ventricular global longitudinal systolic function in a Fabry disease (FD) family with GLA gene mutation by three-dimensional echocardiography (3DE).

Methods A FD family included 8 members diagnosed in Zhongshan Hospital, Fudan University in October 2022 were enrolled. 2DE and 3DE images were performed in all participants. The myocardial deformation values of left ventricle were measured by TomTec Imaging Systems.

Results Of 8 FD patients, 7 carried the GLA gene mutation (NM_000169.2: c.902G > A, p.Arg301Gln). Endocardial echoes were enhanced in all patients, and "binary sign" occurred in the first certifier and his first-degree relatives (n＝5). And global longitudinal systolic function of the left ventricle in all patients was decreased, which was manifested as the global longitudinal strain (GLS).

Conclusions The longitudinal systolic function of left ventricle decreased combined with endocardial echo enhancement in 3DE could indicate FD early.