Echtzeit-Magnetresonanztomographie zur Evaluation von Atemstörungen bei Patient*innen mit Morbus Pompe

Real-time MRI for the evaluation of respiratory impairment in patients with Pompe disease

by Leonie Töpert
Doctoral thesis
Date of Examination:2025-04-01
Date of issue:2025-03-07
Advisor:Prof. Dr. Jens Schmidt
Referee:Prof. Dr. Jens Schmidt
Referee:Prof. Dr. Martin Uecker
Persistent Address: http://dx.doi.org/10.53846/goediss-11129

 

 

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Abstract

English

Respiratory dysfunction is a major contributor to morbidity and mortality in patients suffering from Pompe disease. Standard diagnostic methods, which aim to evaluate diaphragm weakness, often diagnose it at a later stage due to compensatory mechanisms that can conceal early symptoms of respiratory involvement. This dissertation aims to evaluate real-time MRI (RT-MRI) for characterizing breathing patterns in patients with late-onset Pompe disease (LOPD) compared to standard diagnostic tools such as spirometry, body plethysmography, and diaphragm sonography. Ten patients with LOPD and ten matched controls underwent 3 Tesla RT-MRI at 20 frames per second. Natural breathing mechanisms and dynamic respiratory maneuvers (sniff) were characterized and quantified manually as well as via U-Net based segmentation and subsequent analysis. MRI measurements were compared with pulmonary function tests and ultrasound of the diaphragm. The novel RT-MRI method allowed for the precise quantification of diaphragmatic weakness in LOPD patients, as well as compensatory mechanisms such as increased thoracic movement during the sniff maneuver. U-Net-based segmentation enabled the analysis of diaphragmatic/thoracic synchronicity, diaphragmatic/thoracic velocity during sniff maneuvers, and paradoxical diaphragm movement. Thus, RT-MRI has proven to be an efficient and detailed tool for quantifying respiratory muscle function. It holds promising potential for improving the detection and monitoring of breathing impairment in patients suffering from neuromuscular diseases.
Keywords: Real-time MRI; Neuromuscular diseases; Respiratory impairment; Pompe disease; Diaphragmatic weakness