Pierluigi Ciet MD, Presenter: Nothing to Disclose

Stephan C.A. Wens MD, Abstract Co-Author: Nothing to Disclose

Adria Perez-Rovira PhD, Abstract Co-Author: Nothing to Disclose

Karla M. Logie BSc, Abstract Co-Author: Nothing to Disclose

Piotr Alfred Wielopolski PhD, Abstract Co-Author: Nothing to Disclose

Marleen De Bruijne PhD, Abstract Co-Author: Research Grant, AstraZeneca PLC

Ans T Van Der Ploeg MD, Abstract Co-Author: Nothing to Disclose

Pieter A. Van Doorn PhD, Abstract Co-Author: Nothing to Disclose

Harm Awm Tiddens MD, Abstract Co-Author: Nothing to Disclose

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).

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

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.

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

Cine-MRI is a safe and feasible technique that can provide a new insight in Pompe disease

Ciet, P, Wens, S, Perez-Rovira, A, Logie, K, Wielopolski, P, De Bruijne, M, Van Der Ploeg, A, Van Doorn, P, Tiddens, H, Respiratory Muscle Movement in Pompe Disease Using Cine Magnetic Resonance Imaging.  Radiological Society of North America 2013 Scientific Assembly and Annual Meeting, December 1 - December 6, 2013 ,Chicago IL. http://archive.rsna.org/2013/13027792.html