Cardiac phenotype in familial partial lipodystrophy.

ABSTRACT:

Objectives

LMNA variants have been previously associated with cardiac abnormalities independent of lipodystrophy. We aimed to assess cardiac impact of familial partial lipodystrophy (FPLD) to understand the role of laminopathy in cardiac manifestations.

Study design

Retrospective cohort study.

Methods

Clinical data from 122 patients (age range: 13-77, 101 females) with FPLD were analysed. Mature human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) from a patient with an LMNA variant were studied as proof-of-concept for future studies.

Results

Subjects with LMNA variants had a higher prevalence of overall cardiac events than others. The likelihood of having an arrhythmia was significantly higher in patients with LMNA variants (OR: 3.77, 95% CI:

SUBMITTER: Eldin AJ 

PROVIDER: S-EPMC9003538 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature