Conference Paper

Respiratory Muscle Movement in Pompe Disease Using Cine Magnetic Resonance Imaging

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PURPOSE Late-onset Pompe's disease is a slowly progressive proximal myopathy. Respiratory problems are the major cause of death. Up-to-date respiratory muscles in Pompe patients have never been investigated using cine-Magnetic Resonance Imaging (cine-MRI). Cine-MRI allows us to assess the contribution of each respiratory muscle during the breathing cycle. We aimed to assess the performance of respiratory muscles in a group of Pompe patients and healthy volunteers. We compared diaphragmatic displacement between the groups and correlated displacement with spirometry parameters, such as forced expiratory maneuver in 1 second (FEV1). METHOD AND MATERIALS Each subject was trained to perform specific breathing maneuvers, such as FEV1 using an MRI-compatible spirometer, which was also used for volume control during scans. Cine-MRI settings: 2 static scans (13sec) covering the entire thorax were acquired at end-inspiration and –expiration using a 3D spoiled gradient echo (SPGR) sequence (TR/TE/FA/SL=1.3/0.5/2°/3mm, sagittal acquisition) in 3T scanner. 3 dynamic-scans were performed using 3D-SPGR with TRICKS sequence (TR/TE/FA/SL=0.9/10/2°/12mm with a temporal resolution of 437ms (48 phases in 21sec). Total scan time was on average 30min. In-house developed software was used to estimate the diaphragm motion. Pearson(r) and independent T-tests were used for statistics RESULTS To date 10 Pompe patients (mean age 48.6 years, range 39-66 years, 5 males) and 6 volunteers (mean age 43.3 years, range 27-60 years, 3 males) performed spirometer-controlled cine-MRI. Pompe patients showed abnormal expiratory pattern with main contribution by the anterior chest wall during expiration. Vertical diaphragmatic displacement was significant different between patients and volunteers: mean displacement for volunteers 15.37±7.88 mm and 58.96±12.36 for patients; mean difference 43.58±7.02 mm; p=0.001; C.I.26.40-60.77. FEV1 recorded during scans highly correlated with diaphragmatic displacement r=0.9; p=0.037. CONCLUSION Diaphragmatic function is significantly impaired in Pompe patients. In fact, in these patients movement of the anterior chest-wall is the main contributor to breathing. Cine-MRI can be a useful tool for patient’s characterization and to monitor treatment response in Pompe’s disease CLINICAL RELEVANCE/APPLICATION Cine-MRI is a safe and feasible technique that can provide a new insight in Pompe disease

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