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Open Access 13-07-2022 | Pulmonary-Function Tests | Magnetic Resonance

MRI changes in diaphragmatic motion and curvature in Pompe disease over time

Authors: Laurike Harlaar, Pierluigi Ciet, Gijs van Tulder, Harmke A. van Kooten, Nadine A. M. E. van der Beek, Esther Brusse, Marleen de Bruijne, Harm A. W. M. Tiddens, Ans T. van der Ploeg, Pieter A. van Doorn

Published in: European Radiology | Issue 12/2022

Abstract

Objectives

To evaluate changes in diaphragmatic function in Pompe disease using MRI over time, both during natural disease course and during treatment with enzyme replacement therapy (ERT).

Methods

In this prospective study, 30 adult Pompe patients and 10 healthy controls underwent pulmonary function tests and spirometry-controlled MRI twice, with an interval of 1 year. In the sagittal view of 3D gradient echo breath-hold acquisitions, diaphragmatic motion (cranial-caudal ratio between end-inspiration and end-expiration) and curvature (diaphragm height and area ratio) were calculated using a machine learning algorithm based on convolutional neural networks. Changes in outcomes after 1 year were compared between Pompe patients and healthy controls using the Mann-Whitney test.

Results

Pulmonary function outcomes and cranial-caudal ratio in Pompe patients did not change significantly over time compared to healthy controls. Diaphragm height ratio increased by 0.04 (−0.38 to 1.79) in Pompe patients compared to −0.02 (−0.18 to 0.25) in healthy controls (p = 0.02). An increased diaphragmatic curvature over time was observed in particular in untreated Pompe patients (p = 0.03), in those receiving ERT already for over 3 years (p = 0.03), and when severe diaphragmatic weakness was found on the initial MRI (p = 0.01); no progression was observed in Pompe patients who started ERT less than 3 years ago and in Pompe patients with mild diaphragmatic weakness on their initial MRI.

Conclusions

MRI enables to detect small changes in diaphragmatic curvature over 1-year time in Pompe patients. It also showed that once severe diaphragmatic weakness has occurred, improvement of diaphragmatic muscle function seems unlikely.

Key Points

• 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).

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Title: MRI changes in diaphragmatic motion and curvature in Pompe disease over time
Authors: Laurike Harlaar
Pierluigi Ciet
Gijs van Tulder
Harmke A. van Kooten
Nadine A. M. E. van der Beek
Esther Brusse
Marleen de Bruijne
Harm A. W. M. Tiddens
Ans T. van der Ploeg
Pieter A. van Doorn
Publication date: 13-07-2022
Publisher: Springer Berlin Heidelberg
Keywords: Pulmonary-Function Tests
Pompe Disease
Published in: European Radiology / Issue 12/2022
Print ISSN: 0938-7994
Electronic ISSN: 1432-1084
DOI: https://doi.org/10.1007/s00330-022-08940-y

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

MRI changes in diaphragmatic motion and curvature in Pompe disease over time

Abstract

Objectives

Methods

Results

Conclusions

Key Points

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Objectives

Methods

Results

Conclusions

Key Points

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