Role of Longitudinal Strain in the Evaluation of Contractile Dysfunction in Japanese Fabry Disease Patients

Abstract

Background: Fabry disease is a hereditary metabolic disorder caused by a decrease in or deficiency of the lysosomal enzyme α-galactosidase A. Enzyme replacement therapy or pharmacological chaperone therapy can improve prognosis, especially in patients in the early phase of cardiac involvement. Longitudinal strain (LS) evaluated using speckle tracking echocardiography can detect early contractile dysfunction. However, there have been no reports of LS in Japanese Fabry disease patients.

Methods and results: We recruited 56 patients with Fabry disease (22 men, 34 women) who were followed up at Jikei University Hospital. Fifty-eight control subjects without overt cardiac diseases were also included in the study. We evaluated LS in each patient, and the values of each of the 17 segments of the left ventricle (LV) were averaged, and global LS (GLS) was also calculated. GLS was significantly worse in Fabry disease patients without LV hypertrophy than in control subjects (-18.5±2.8% vs. -20.4±1.6%; P<0.05). In addition, Fabry disease patients without LV hypertrophy had significantly worse lateral LS (-16.4±5.0% vs. -19.3±1.8%; P<0.05), basal LS (-16.5±3.2% vs. -18.5±1.7%; P<0.05), and mid LS (-18.7±1.7% vs. -20.8±1.6%; P<0.05) than control subjects.

Conclusions: These results suggest that early contractile dysfunction in Fabry disease can be observed using GLS, lateral LS, basal LS, and mid LS, even without LV hypertrophy.

Keywords: Fabry disease; GLA mutation; Left ventricular hypertrophy; Speckle tracking echocardiography.