title: Right ventricular function in late-onset Pompe disease.
abstract: Pompe's disease is a glycogen storage disease (type II) characterized by inherited autosomal recessive transmission. The right ventricular (RV) function is a determinant parameter of clinical outcome in patients with heart failure. We sought to characterize the RV function using Doppler-echocardiography completed by Doppler tissular imaging and tricuspid annular plane systolic excursion (TAPSE) measurement. We analyzed retrospectively clinical and Doppler-echocardiographic data of patients with adult late onset Pompe disease and compared to a control group. Ten patients with late onset Pompe disease were included in our study and were compared to a control group (seven patients). Mean age was 56.7 ± 10.2 years in late onset Pompe disease versus 55 ± 21 years in control group (p  = 0.65). Left ventricular ejection fraction (LVEF) was similar in the two groups (LVEF 63.7 ± 9 vs 63.7 ± 6.6 % in control group p  = 0.99). LV end diastolic diameter was 40.8 ± 6 mm in Pompe disease versus 45.8 ± 6 mm in control group (p  = 0.11). Mean TAPSE was similar in the two groups (25.6 ± 6.2 vs 21.5 ± 2.7 mm p = 0.23). Mean peak systolic RV velocity Sm was not significantly different in the two groups (17.11 ± 3.4 cm/s in Pompe disease vs 16.14 ± 3.8 cm/s in control group p = 0.61). Mean peak early diastolic Ea velocity in the RV were not significantly different in the two groups (15.6 ± 5.6 vs 18.2 ± 4.9 cm/s p = 0.34). According to our data, RV systolic function seems preserved in late-onset Pompe disease.
authors.affiliation: Réanimation Médicale, Hôpital Raymond Poincaré (AP-HP), Université de Versailles SQY, 104 Boulevard Raymond Poincaré, 92380, Garches, France, fayssoil2000@yahoo.fr.
authors.forename: Abdallah
authors.initials: A
authors.lastname: Fayssoil
authors.forename: Olivier
authors.initials: O
authors.lastname: Nardi
authors.forename: Djillali
authors.initials: D
authors.lastname: Annane
authors.forename: David
authors.initials: D
authors.lastname: Orlikowski
mesh_terms: D000465:Algorithms; D015150:Echocardiography, Doppler / Q000379:methods*; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000000981:diagnostic imaging*; D006801:Humans; D007090:Image Interpretation, Computer-Assisted / Q000379:methods; D008297:Male; D008875:Middle Aged; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D014261:Tricuspid Valve / Q000000981:diagnostic imaging*; D018497:Ventricular Dysfunction, Right / Q000000981:diagnostic imaging* / Q000209:etiology*