Conventional and 2-Dimensional Speckle Tracking Echocardiography in Fabry Disease

Abstract

Abstract OBJECTIVE To analyze the myocardial involvement and explore the strain characteristics of the left atrium and the left ventricle in patients with Fabry disease (FD) using conventional echocardiography and 2-dimensional speckle tracking echocardiography (2D-STE). METHODS A retrospective study was conducted. Sixty-nine patients with FD who were treated in the Department of Cardiology, Neurology and Nephrology of Peking University First Hospital from August 2014 to February 2023 and underwent echocardiography examination in the Cardiology Department were collected (FD group). During the same time, 69 age- and sex-matched individuals who had no cardiovascular, cerebrovascular, renal, metabolic, and autoimmune diseases, and had no obvious abnormalities on echocardiography were included in the control group. The clinical data and laboratory tests were collected, and routine echocardiography and 2D-STE were performed to analyze left atrial strain and left ventricular longitudinal strain. The differences in relevant parameters between groups were compared. RESULTS Compared with the control group, the patients in the FD group had smaller body mass index and body surface area, slower heart rate, poorer estimated glomerular filtration rate, and significantly increased brain natriuretic peptide and cardiac troponin I (all P < 0.05). E’med in the FD group was reduced (8.4 ± 3.4 vs. 9.9 ± 2.8, P = 0.006) and E peak, E peak deceleration time, pulmonary artery systolic pressure increased, interventricular septum and left ventricular posterior wall thickened, left ventricular mass index, and early diastolic transmitral inflow velocity/septal mitral annular velocity (E/Eʹ) increased (all P < 0.05). Compared with the control group, left atrial strains [including left atrial strain during reservoir phase (LASr), left atrial strain during contraction phase (LASct), left atrial strain during conduit phase (LAScd)] and left ventricular average global longitudinal strain (GLSavg) were reduced in the FD group. In the segmental longitudinal strain of the left ventricular, the strain was significantly reduced except for the strain of the basal and middle segment of the inferior wall (P < 0.05). CONCLUSIONS Patients with FD usually have multisystem involvement such as kidney and heart. Echocardiography usually shows varying degrees of myocardial hypertrophy and diastolic dysfunction, while left ventricular ejection fraction is normal. Left atrial strain, left ventricular global, and segmental longitudinal strain are all decreased to varying degrees.