Reduced native T1 on cardiac magnetic resonance imaging as a novel marker of myocardial involvement in Niemann-Pick disease type B

This study compares two adult NPD-B patients who underwent CMR imaging. The first patient who died during follow-up showed reduced native T1 values, suggesting myocardial lipid accumulation, while the second had normal values and no complications during follow-up. These two patients are reported here to stimulate research in this field, as native T1 may aid in assessment of myocardial involvement. The two cases also suggest a potential influence of genetic mutations on disease severity. Given the risk of cardiac involvement in NPD-B, CMR - especially T1 mapping - may be a valuable tool for assessing myocardial infiltration. Future studies are needed to explore its correlation with genotype, disease progression, and treatment response.