Cardiac magnetic resonance in Pompe disease: a systematic literature review.

What was studied

This was a systematic review of heart MRI findings in Pompe disease. Pompe disease is a rare genetic disorder. A missing enzyme lets glycogen build up, mostly in muscles but also in the heart. The team asked what cardiac magnetic resonance (CMR) shows in these patients. They searched PubMed, Scopus and Web of Science through February 2024. No language or time limit applied.

What they found

276 articles were screened, and 11 papers were included. They covered the infantile form (IOPD) and the late-onset form (LOPD). Most studies were rated level 5 on the CEBM scale. Some looked at late-gadolinium enhancement. Others explored extracellular volume, T1/T2 mapping and perfusion. One study tracked care after therapy with T1 mapping.

What it means for patients

The authors said data on CMR features in Pompe disease are limited. They said most rest on non-parametric assessment. They said more studies, including mapping techniques, are needed to understand heart involvement.

Why it is not certain yet

Prevalence and nature of heart involvement are still unclear. Only 11 papers were included. Most had low evidence levels. Evidence on rare diseases is often small and uneven.

Source

Cardiac magnetic resonance in Pompe disease: a systematic literature review.

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