MRI changes in diaphragmatic motion and curvature in Pompe disease over time.
Laurike HarlaarPierluigi CietGijs van TulderHarmke A van KootenNadine A M E van der BeekEsther BrusseMarleen de BruijneHarm A W M TiddensAns T van der PloegPieter A van DoornPublished in: European radiology (2022)
• Changes in diaphragmatic curvature in Pompe patients over time assessed with 3D MRI may serve as an outcome measure to evaluate the effect of treatment on diaphragmatic function. • Diaphragmatic curvature showed a significant deterioration after 1 year in Pompe patients compared to healthy controls, but the curvature seems to remain stable over this period in patients who were treated with enzyme replacement therapy for less than 3 years, possibly indicating a positive effect of ERT. • Improvement of diaphragmatic curvature over time is rarely seen in Pompe patients once diaphragmatic motion shows severe impairment (cranial-caudal inspiratory/expiratory ratio < 1.4).