Genetic predisposition to immune dysregulation and extracellular matrix remodeling in cardiac arrhythmia reveals potential mediation by <i>SPP1</i>+ macrophages.

ABSTRACT:

Introduction

Cardiac arrhythmia frequently co-presents with structural abnormalities such as cardiomyopathy and myocardial fibrosis, creating a bidirectional relationship where electrical disturbances and structural remodeling exacerbate each other. Current genetic studies focus on ion channel variants, which explain part of the etiology. Molecular mechanisms underlying arrhythmias pathogenesis and its progression warrant further investigation.

Methods

We performed whole-exome sequencing on 50 arrhythmia patients (21 females, 29 males), predominantly with early-onset disease (94% ≤ 35 years). We focused on exonic deleterious mutations that are rare in healthy populations. The identified recurrently mutated (r.m.) genes were analyzed using protein-protein interaction n

SUBMITTER: Jin JY 

PROVIDER: S-EPMC12399913 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature