Cardiac magnetic resonance in Pompe disease: a systematic literature review

Pompe disease (PD) is a rare genetic disorder, caused by the lysosomal acid alpha-glucosidase enzyme deficiency leading to accumulation of glycogen, primarily in skeletal and respiratory muscles, but also in the heart. In both known PD forms, namely infantile (IOPD) and late-onset (LOPD), the prevalence and nature of myocardial involvement are still to be clarified. Cardiovascular magnetic resonance (CMR) may help to detect unrecognized alterations contributing to patients' management. This study aimed to systematically review PD CMR features. We conducted a systematic search of three electronic databases (PubMed, Scopus, and Web of Science) up to February 2024, without language or time interval restriction. Two reviewers performed the search and selection process, data extraction, and synthesis. We resolved disagreements by consensus and/or involving a third reviewer. The included studies have been classified according to the Oxford Centre for Evidence Based Medicine (CEBM) grading system. Out of 276 articles, 11 papers were finally included: seven about IOPD and four regarding LOPD. According to CEBM, seven were level 5, one was level 4, two were level 3, and one was level 2. Six studies reported qualitative late-gadolinium enhancement tissue characterization, 1 described cardiac infiltration on TIRM sequences, 3 explored changes in ExtraCellular Volume and, among these, 2 evaluated also T1/T2 mapping and perfusion; one study assessed the management after therapy through T1 mapping. Literature data regarding CMR features in PD are limited and based on nonparametric assessment mainly. Further investigations, involving also mapping techniques, are required to better understand PD cardiac involvement.