The online version of this article (doi:10.1186/s12890-015-0058-3) contains supplementary material, which is available to authorized users.
Research on Pompe disease at Erasmus MC is funded by the Erasmus MC Revolving Fund [project number 1054, NAMEvdB]; European Union, 7th Framework Programme “Euclyd – a European Consortium for Lysosomal Storage Diseases” [health F2/2008 grant number 201678]; ZonMw – Netherlands organization for health research and development [grant number 152001005]; and the Prinses Beatrix Fonds [project number OP07-08]. ATvdP has provided consulting services to, and have received research funding from Genzyme Corporation, a Sanofi company, under an agreement between Genzyme and Erasmus MC University Medical Centre, Rotterdam, The Netherlands. The other authors declare that they have no competing interests.
ATvdP takes responsibility for the content of the manuscript, including the data and analysis. SCAW and PC conceived and designed the study, delineated the hypothesis and acquired the data. APR was the main contributor to computer-assisted image analysis and data quantification. HAWMT, PAvD and ATvdP helped conceive and design the study; they also helped with data interpretation. PW, KL, ES, MdB and MEK were involved in data acquisition and interpretation. All authors contributed to the writing of the manuscript and approved the final manuscript.
Pompe disease is a progressive metabolic myopathy. Involvement of respiratory muscles leads to progressive pulmonary dysfunction, particularly in supine position. Diaphragmatic weakness is considered to be the most important component. Standard spirometry is to some extent indicative but provides too little insight into diaphragmatic dynamics. We used lung MRI to study diaphragmatic and chest-wall movements in Pompe disease.
In ten adult Pompe patients and six volunteers, we acquired two static spirometer-controlled MRI scans during maximum inspiration and expiration. Images were manually segmented. After normalization for lung size, changes in lung dimensions between inspiration and expiration were used for analysis; normalization was based on the cranial-caudal length ratio (representing vertical diaphragmatic displacement), and the anterior-posterior and left-right length ratios (representing chest-wall movements due to thoracic muscles).
We observed striking dysfunction of the diaphragm in Pompe patients; in some patients the diaphragm did not show any displacement. Patients had smaller cranial-caudal length ratios than volunteers (p < 0.001), indicating diaphragmatic weakness. This variable strongly correlated with forced vital capacity in supine position (r = 0.88) and postural drop (r = 0.89). While anterior-posterior length ratios also differed between patients and volunteers (p = 0.04), left-right length ratios did not (p = 0.1).
MRI is an innovative tool to visualize diaphragmatic dynamics in Pompe patients and to study chest-walland diaphragmatic movements in more detail. Our data indicate that diaphragmatic displacement may be severely disturbed in patients with Pompe disease.
Additional file 1: Color maps made at maximum inspiration and expiration.12890_2015_58_MOESM1_ESM.pdf
Additional file 2: Dynamic MRI in a Pompe patient during an FEV1 measurement.12890_2015_58_MOESM2_ESM.mov
Additional file 3: Dynamic MRI in a healthy volunteer during an FEV1 measurement.12890_2015_58_MOESM3_ESM.mov
American Thoracic Society/European Respiratory S. ATS/ERS Statement on respiratory muscle testing. Am J Respir Crit Care Med. 2002;166:518–624. CrossRef
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- Lung MRI and impairment of diaphragmatic function in Pompe disease
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- BioMed Central
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