Abstract Introduction Fabry disease is an important infiltrative secondary cardiomyopathy caused by a decrease or deficiency in the lysosomal enzyme alpha-galactosidase A activity. The resultant accumulation of glycosphingolipids causes left ventricular hypertrophy (LVH), myocardial fibrosis, and arrhythmias. Recent advances in speckle tracking echocardiography have enabled the detection of early contractile dysfunction in various heart diseases. Purpose We examined whether or not longitudinal strain (LS) evaluated using speckle tracking echocardiography could detect early contractile dysfunction in Japanese patients with Fabry disease. Methods We recruited 56 patients with Fabry disease (22 men and 34 women) who were followed up at our University Hospital and 28 control subjects who showed normal standard echocardiographic findings in the present study. The diagnosis of Fabry disease was based on a mutation analysis of the GLA gene. Comprehensive echocardiography was performed using an ultrasound scanner. Cardiac mechanics were analyzed using the two-dimensional speckle tracking technique via automated function imaging and a Q-analysis software program according to consensus statements on cardiac mechanics quantitation. Using 3 apical views, the LS values of the 17 segments of the left ventricle were calculated for each patient. The global longitudinal strain (GLS) of each patient was also calculated. Results We divided the Fabry disease patients into two groups: patients without LVH (Fabry LVH [-]) and patients with LVH (Fabry LVH [+]). Figure 1 shows the results of the averaged LS values among the control, Fabry LVH (-), and Fabry LVH (+) groups. An analysis of variance detected significant differences in GLS and LS in the anterolateral region of the left ventricle (anterolateral LS) among the 3 groups. A post-hoc analysis revealed a significant decrease in GLS and anterolateral LS in Fabry LVH (-) compared to the control (Figure 2A-B). A receiver operating characteristic (ROC) analysis revealed that both GLS and anterolateral LS could discriminate Fabry LVH (-) from controls (Figure 2C). Using GLS, a cutoff value of -20.0 discriminated Fabry LVH (-) from controls with a sensitivity of 66.7% and specificity of 67.9%. Using anterolateral LS, a cutoff value of -18.8 discriminated Fabry LVH (-) from controls with a sensitivity of 69.7% and specificity of 60.7%. Conclusions These results suggest that early contractile dysfunction can be detected using GLS and anterolateral LS in Japanese patients with Fabry disease, even without LVH. The early detection of contractile dysfunction may be used to identify candidate patients for enzyme replacement therapy or pharmacological chaperone therapy.
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