Right ventricular function in late-onset Pompe disease

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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± 10.2years in late onset Pompe disease versus 55±21years 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±6mm in Pompe disease versus 45.8±6mm in control group (p =0.11). Mean TAPSE was similar in the two groups (25.6±6.2 vs 21.5 ±2.7mm p=0.23). Mean peak systolic RV velocity Sm was not significantly different in the two groups (17.11±3.4cm/s in Pompe disease vs 16.14±3.8cm/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±4.9cm/s p=0.34). According to our data, RV systolic function seems preserved in late-onset Pompe disease.