ArticleAmerican heart journal plus : cardiology research and practice2025
Reduced native T
Article in American heart journal plus : cardiology research and practice, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Niemann-Pick disease type B (NPD-B) is a rare lysosomal storage disorder caused by biallelic mutations in the Methods: Two adult patients with genetically confirmed NPD-B underwent multiparametric cardiac magnetic resonance (CMR) including native T1 mapping and late gadolinium enhancement (LGE). Clinical, biochemical, and histopathological data were reviewed. Results: Patient 1, a 59-year-old man with a homozygous Discussion/conclusions: 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.
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