2025-02-252021-10-15https://repositorio.cmmg.edu.br/handle/123456789/78Background: Storage of glycogen and glycosphingolipids occurs in the heart of patients with PRKAG2 Syndrome and Fabry Disease (FD), respectively. Identification of specific echocardiographic parameters could contribute to early diagnosis, which is fundamental to initiate appropriate treatment and improve prognosis. Material and methods: Cross- sectional study involving 45 patients (pts), 30 genetically identified with the PRKAG2 gene mutation and 15 with FD. Conventional transthoracic, bi-, and tridimensional echocardiography as well as strain/strain rate speckle tracking were measured during one examination. Specific echocardiographic measurements were obtained and the data exported to a workstation for subsequent evaluation. Analyses were performed with 5% significance using the R program, version 3.1.3. Results: Compared to FD patients, PRKAG2 pts presented increased left atrium volume index (p=0.031), mean LV septum (p=0.001), posterior wall thickness, right ventricle (RV) dimensional values, and RV thickness in diastole (p = 0.001). LV hypertrophy was found in varying degrees in 25 (86%) of PRKAG2 and 8 (53%) of FD pts. We detected a binary appearance of LV endocardial border (“binary sign”) and hypertrophy of the anterolateral papillary muscle in 60% of FD pts. PRKAG2 pts showed reduced global longitudinal strain (2DGLS), 3D GLS (p<0.001) 3D global radial strain (GRS), and aortic diameter compared to FD pts. In PRKAG2 pts the bull’s-eye plot showed a stripe like pattern. In FD pts, however, it showed a peak systolic strain reduction in basal and xi mid- anterolateral segments. Conclusion: Echocardiography is an important technique in differentiating both diseases to determine adequate treatment and prognosis. We have demonstrated that PRKAG2 pts present moderately greater cardiac involvement than FD ptsAcesso abertoDoença de Fabry; Síndrome do PRKAG2; Ecocardiograma Transtorácico. Speckle tracking, strain 2D, strain 3D; Fabry Disease; PRKAG2 Syndrome; Speckle tracking Echocardiography, 2D strain, 3D strainDissertação4.01.00.00-6 - Medicina