Cardiac involvement in Anderson-Fabry Disease, a rare X-linked genetic lysosomal storage disorder, is common and more than 50% of patients develops a concentric non-obstructive left ventricle hypertrophy. Aim: Aim of study was to identify early signs of myocardial involvement in patients with Fabry Disease without hypertrophy, using 2D Speckle Tracking Echocardiography to evaluate the Left Ventricle Longitudinal Strain (GLS). We evaluated Echocardiograms of 21 patients (7 males, 14 females) with diagnosis of Fabry Disease. For this study we reported the values of the LV mass indexed by body surface area (LVMi), E wave of mitral flow, the systolic (S’) and early diastolic myocardial velocity (E’) of tissue Doppler at mitral annulus, E/E’ ratio and GLS. Patients were grouped according to the presence or absence of LV hypertrophy in two groups: with LVMi >115 g/m2 (LVH) and with LVMi ≤115 g/m2 (noLVH); the data were compared to normal group (N) matched for age and BSA. LVH pts (2M-3F, 53 ± 9y) showed: Enzyme activity 1,54 ± 1,98; LVMi g/m2150 ± 23,6; E cm/s 70,4 ± 23,7 (vs. p<0,196); S’cm/s 5,4 ± 1,1 (vs. p<0,001); E’ 5,2 ± 2,7 (vs. p<0,001); E/E’ 16,96 ± 11,8 (vs. p<0,0005); GLS% -11,7 ± 5,4. (vs. p<0,001).NoLVH pts (5M-11F, 33 ± 19y) showed: Enzyme activity 3,43 ± 3,03; LVMi g/m270 ± 16,4 (vs. p<0,719); E cm/s 82,1 ± 29,6 (vs. p<0,807); S’ cm/s 7,2 ± 1,6 (vs. p<0,001); E’ 12 ± 4,1 (vs. p<0,204); E/E’ 8 ± 3 (vs. p<0,0005); GLS% - 18,4 ± 2,8 (vs. p<0,02). Our study shows that even in patients without hypertrophy, then in the pre-clinical stage, the longitudinal ventricle function, expressed by GLS is already precociously altered.

Myocardial Dysfunction in Anderson-Fabry Disease (AFD) without Ventricular Hypertrophy

MONTE, INES PAOLA;
2016

Abstract

Cardiac involvement in Anderson-Fabry Disease, a rare X-linked genetic lysosomal storage disorder, is common and more than 50% of patients develops a concentric non-obstructive left ventricle hypertrophy. Aim: Aim of study was to identify early signs of myocardial involvement in patients with Fabry Disease without hypertrophy, using 2D Speckle Tracking Echocardiography to evaluate the Left Ventricle Longitudinal Strain (GLS). We evaluated Echocardiograms of 21 patients (7 males, 14 females) with diagnosis of Fabry Disease. For this study we reported the values of the LV mass indexed by body surface area (LVMi), E wave of mitral flow, the systolic (S’) and early diastolic myocardial velocity (E’) of tissue Doppler at mitral annulus, E/E’ ratio and GLS. Patients were grouped according to the presence or absence of LV hypertrophy in two groups: with LVMi >115 g/m2 (LVH) and with LVMi ≤115 g/m2 (noLVH); the data were compared to normal group (N) matched for age and BSA. LVH pts (2M-3F, 53 ± 9y) showed: Enzyme activity 1,54 ± 1,98; LVMi g/m2150 ± 23,6; E cm/s 70,4 ± 23,7 (vs. p<0,196); S’cm/s 5,4 ± 1,1 (vs. p<0,001); E’ 5,2 ± 2,7 (vs. p<0,001); E/E’ 16,96 ± 11,8 (vs. p<0,0005); GLS% -11,7 ± 5,4. (vs. p<0,001).NoLVH pts (5M-11F, 33 ± 19y) showed: Enzyme activity 3,43 ± 3,03; LVMi g/m270 ± 16,4 (vs. p<0,719); E cm/s 82,1 ± 29,6 (vs. p<0,807); S’ cm/s 7,2 ± 1,6 (vs. p<0,001); E’ 12 ± 4,1 (vs. p<0,204); E/E’ 8 ± 3 (vs. p<0,0005); GLS% - 18,4 ± 2,8 (vs. p<0,02). Our study shows that even in patients without hypertrophy, then in the pre-clinical stage, the longitudinal ventricle function, expressed by GLS is already precociously altered.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/20.500.11769/20355
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