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

ABSTRACT:

Background

Niemann-Pick disease type B (NPD-B) is a rare lysosomal storage disorder caused by biallelic mutations in the SMPD1 gene, leading to deficient acid sphingomyelinase activity and lipid accumulation in various organs. Although cardiac involvement is known in similar disorders like Anderson-Fabry disease, the myocardial impact in NPD-B remains poorly characterized.

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 SMPD1 mutation (c.[Arg610del]), showed advanced pulmonary disease and liver steato

SUBMITTER: Redzepi B 

PROVIDER: S-EPMC12594934 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature