title: Global cardiac alterations detected by speckle-tracking echocardiography in Fabry disease: left ventricular, right ventricular, and left atrial dysfunction are common and linked to worse symptomatic status.
abstract: The aim of this study was to test the hypothesis that in patients with Fabry disease, 2D speckle-tracking echocardiography (2DSTE) could detect functional myocardial alterations such as left ventricular (LV), right ventricular (RV), and left atrial (LA) dysfunction, even when conventional cardiac measurements are normal. In addition, we hypothesized that these global cardiac alterations could be linked to worse symptomatic status in these patients. Fifty patients with Fabry disease and a control group of 118 healthy subjects of similar age and gender were included. The myocardial function and structural changes of the LV, RV, and LA were analyzed by 2DSTE and cardiac magnetic resonance imaging. Patients with Fabry disease had significantly lower functional myocardial values of the LV, RV, and LA than healthy subjects (LV, RV, and LA strain -18.1 ± 4.0, -21.4 ± 4.9, and 29.7 ± 9.9 % vs. -21.6 ± 2.2, -25.2 ± 4.0, and 44.8 ± 11.1 %, respectively, P < 0.001) and elevated rates of LV, RV, and LA myocardial dysfunction (24, 20, and 26 %, respectively), even when conventional cardiac measurements such as LVEF, TAPSE, and LAVI were normal. LV septal wall thickness ≥15 mm, RV free wall thickness ≥7 mm, and LV longitudinal dysfunction were the principal factors linked to reduced LV, RV, and LA strain, respectively. In addition, but to a lesser extent, LV and RV fibrosis were linked to reduced LV and RV strain. Patients with reduced LV, RV, and LA strain had worse functional class (dyspnea-NYHA classification) than those with normal cardiac function. In conclusion, in patients with Fabry disease, 2DSTE analyses detect LV, RV, and LA functional myocardial alterations, even when conventional cardiac measurements are normal. These functional myocardial alterations are common and significantly associated with worse symptomatic status in Fabry patients. Therefore, these findings provide important evidence to introduce global myocardial analyses using 2DSTE in the early detection of functional cardiac alterations in Fabry disease.
authors.affiliation: Department of Cardiology, Charité University Hospital, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany, daniel-armando.morris@charite.de.
authors.forename: Daniel A
authors.initials: DA
authors.lastname: Morris
authors.forename: Daniela
authors.initials: D
authors.lastname: Blaschke
authors.forename: Sima
authors.initials: S
authors.lastname: Canaan-Kühl
authors.forename: Alice
authors.initials: A
authors.lastname: Krebs
authors.forename: Gesine
authors.initials: G
authors.lastname: Knobloch
authors.forename: Thula C
authors.initials: TC
authors.lastname: Walter
authors.forename: Wilhelm
authors.initials: W
authors.lastname: Haverkamp
mesh_terms: D000328:Adult; D016279:Atrial Function, Left; D016022:Case-Control Studies; D015150:Echocardiography, Doppler; D000795:Fabry Disease / Q000150:complications / Q000000981:diagnostic imaging* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D011237:Predictive Value of Tests; D011379:Prognosis; D018487:Ventricular Dysfunction, Left / Q000000981:diagnostic imaging* / Q000209:etiology / Q000503:physiopathology; D018497:Ventricular Dysfunction, Right / Q000000981:diagnostic imaging* / Q000209:etiology / Q000503:physiopathology; D016277:Ventricular Function, Left; D016278:Ventricular Function, Right