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

• Published in: Circulation journal : official journal of the Japanese Circulation Society Vol. 89; no. 1; pp. 53 - 61
• Main Authors: Nojiri, Ayumi, Morimoto, Satoshi, Fukuro, Eiko, Okuyama, Toraaki, Anan, Ikuko, Kawai, Makoto, Sakurai, Ken, Kobayashi, Masahisa, Kobayashi, Hiroshi, Ida, Hiroyuki, Ohashi, Toya, Yoshimura, Michihiro, Eto, Yoshikatsu, Hongo, Kenichi
• Format: Journal Article
• Language: English
• Published: Japan 25.12.2024
• Subjects: Adult; Aged; Case-Control Studies; East Asian People; Echocardiography; Fabry Disease - complications; Fabry Disease - diagnostic imaging; Fabry Disease - physiopathology; Female; Humans; Hypertrophy, Left Ventricular - diagnostic imaging; Hypertrophy, Left Ventricular - etiology; Hypertrophy, Left Ventricular - physiopathology; Japan; Male; Middle Aged; Myocardial Contraction; Ventricular Dysfunction, Left - diagnostic imaging; Ventricular Dysfunction, Left - etiology; Ventricular Dysfunction, Left - physiopathology; Ventricular Function, Left; Japan; Fabry disease; Speckle tracking echocardiography; GLA mutation; Left ventricular hypertrophy
• ISSN: 1346-9843; 1347-4820; 1347-4820
• DOI: 10.1253/circj.CJ-24-0509

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. 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. 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.