O123 Early Myocardial Dysfunction In Patients With Fabry Disease, Assessed By Tissue Doppler Imaging

Abstract

Fabry disease (FD) is a rare X-linked recessive chromosomal disease with a deficiency of the enzyme α-galactosidase A, which leads to an accumulation of glycolipid substrate in skin, nervous system, kidney, cornea and heart. Cardiac involvement is characterized by conduction disorders, left ventricular (LV) hypertrophy, valvular thickening, and development of restrictive or hypertrophic cardiomyopathy. The present study was aimed to assess the extent of changes in cardiac function and morphology in six FD patients. Twelve healthy subjects were included as controls. Both groups were investigated by 2D-Doppler Echocardiography and Tissue Doppler Imaging (TDI). All FD patients had preserved global LV ejection fraction. In four of them (with history of arterial hypertension) a mild LV hypertrophy and features of diastolic dysfunction were detected. In all six FD patients significantly reduced telesystolic global longitudinal strain and average velocities of medial and lateral mitral annulus were demonstrated by TDI. These findings suggest TDI might be a useful method for a detection of early myocardial dysfunction in FD.