Two‐Dimensional Speckle Tracking Echocardiography for Early Detection of Myocardial Damage in Young Patients with Fabry Disease

Abstract

Fabry disease (FD) is characterized by left ventricular hypertrophy (LVH). Conventional echocardiography is not sensitive enough to perform the preclinical diagnosis To assess whether longitudinal myocardial strain of the left ventricle (LV), using speckle tracking, is useful to detect early myocardial involvement in FD. Forty-four patients with FD who were diagnosed with genetic testing were prospectively included and were compared to a sex-matched control group. They were divided into three groups: 22 with LVH (Group I), 22 without LVH (Group II), and 22 healthy volunteers (Group III). LV longitudinal strain was measured from the apical views. An ANOVA test was used for multiple comparisons for variables with a normal distribution, and a Kruskal-Wallis test was used for variables with non-Gaussian distribution. Longitudinal LV strain was different in the three groups: it was ≥-15% in at least one segment in all Group I patients, in 50% of patients of Group II and in no patient of Group III. Seventy percent of the segments with abnormal strain in Group II were located in the basal regions (32/46). These findings show that the presence of at least one strain value ≥-15% demonstrates subclinical myocardial dysfunction in patients with preclinical FD. Longitudinal myocardial LV strain measured with speckle tracking is a useful tool to detect early myocardial involvement in young patients with FD. This information allows the detection and treatment of myocardial dysfunction at an early stage, which is of high clinical importance.

Layer‐specific longitudinal strain in Anderson–Fabry disease at diagnosis: A speckle tracking echocardiography analysis

“…The reduction of GLS has been shown in several reports dealing with AFD . The present study extends these data showing that—despite involving both LSsubendo and LSsubepi layers—the reduction of longitudinal strain is more evident at the level of the subepicardium.…”

Left ventricular metabolic remodeling and accompanied dysfunction in type 2 diabetic patients: A 3D speckle tracking analysis

“…Imbalzano et al found that the patients with hypertension but no LVH only showed significantly lower GLS compared with the controls . Saccheri et al also observed that the patients with Fabry disease and LVN had significantly lower longitudinal strain in only two segments . In a 3DSTE study, Ternacle et al even found no significant differences in GLS, GCS, GAS, and GRS between the athletes with LVN and the controls .…”

“…16 Saccheri et al also observed that the patients with Fabry disease and LVN had significantly lower longitudinal strain in only two segments. 17 In a 3DSTE study, Ternacle et al even found no significant differences in GLS, GCS, GAS, and GRS between the athletes with LVN and the controls. 18 Similarly, in our study, GLS was the only significantly lower strain value in the T2DM patients with LVN than in the controls.…”

Apical Left Ventricular Hypertrophy and Mid‐Ventricular Obstruction in Fabry Disease

“…Fabry disease is rare and usually multisystemic, but occasionally is expressed clinically as a predominantly cardiac phenotype mimicking HCM. The LVH in patients with Fabry disease is usually symmetric, not asymmetric as in HCM . The asymmetric septal hypertrophy observed in about 5% of the cases is similar to sarcomeric cardiomyopathies.…”