Related Experiment Video
Updated: Aug 11, 2025

Estimating Bilateral Atrial Function by Cardiovascular Magnetic Resonance Feature Tracking in Patients with Paroxysmal Atrial Fibrillation
Published on: July 20, 2022
Exploring the pathogenesis and immune infiltration in dilated cardiomyopathy complicated with atrial fibrillation by
Ting Gan1,2,3, Jing Hu4, Anwer Khalid Okab Aledan1,2,3
1Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Insights
Dilated cardiomyopathy (DCM) and atrial fibrillation (AF) share common immune dysregulation, particularly involving follicular helper T cells and CD48/CD3D genes. These findings suggest a potential shared pathogenesis and diagnostic markers for DCM with AF.
Area of Science:
- Cardiology
- Immunology
- Bioinformatics
Background:
- Atrial fibrillation (AF) is a serious complication of dilated cardiomyopathy (DCM), increasing risks for thromboembolic events and sudden death.
- The underlying molecular mechanisms and immune infiltration patterns common to DCM and AF remain largely unelucidated.
- This study aims to explore these shared mechanisms using comprehensive bioinformatics analysis.
Purpose of the Study:
- To identify common molecular mechanisms between DCM and AF.
- To analyze immune cell infiltration patterns in DCM complicated with AF.
- To discover potential diagnostic biomarkers for DCM with AF.
Main Methods:
- Utilized gene expression datasets for DCM and AF from the Gene Expression Omnibus database.
- Performed differential gene expression analysis and constructed protein-protein interaction networks.
- Employed ImmuCellAI for immune infiltration estimation and verified findings in validation datasets.
Main Results:
- Identified 184 common differentially expressed genes (DEGs) between DCM and AF, with hub genes significantly associated with immune responses.
- Discovered 7 hub immune-related genes (e.g., HLA-DRA, LCK, ITK, CD48, CD247, CD3D, IL2RG) and dysregulation of Monocyte, Neutrophil, and follicular helper T (Tfh) cells.
- Found CD48 and CD3D demonstrated excellent diagnostic value for DCM and AF, correlating with Tfh cell abundance.
Conclusions:
- Immune cell disorders, specifically Tfh cells, driven by hub immune-related genes like CD48 and CD3D, may represent a common pathogenic pathway in DCM combined with AF.
- These findings provide a foundation for further research into the immune mechanisms underlying DCM and AF.
- Identified CD48 and CD3D as potential diagnostic biomarkers for DCM with AF.
Background:
Atrial fibrillation (AF) is a serious complication of dilated cardiomyopathy (DCM), which increases the risk of thromboembolic events and sudden death in DCM patients. However, the common mechanism of DCM combined with AF remains unclear. This study aims to explore the molecular mechanism and analyze immune infiltration in DCM complicated with AF through comprehensive bioinformatics analysis.
Methods:
The gene expression datasets of DCM (GSE141910) and AF (GSE41177 and GSE79768) were obtained from the Gene Expression Omnibus database. Gene enrichment analyses were performed after screening the common differentially expressed genes (DEGs) of DCM and AF. Protein-protein interaction network was constructed in the STRING database and visualized in Cytoscape software, which helped to further screen the central functional modules of DEGs and hub genes. In addition, ImmuCellAI algorithm was performed to estimate immune infiltration patterns, and Spearman correlation was conducted to investigate the correlation between the abundance of multiple immune cells and the expression levels of hub immune-related genes after obtaining hub immune-related genes from the ImmPort database. The hub immune-related genes expression and immune infiltration patterns were additionally verified in the validation datasets (GSE57338, GSE115574, and GSE31821). The diagnostic effectiveness of hub immune-related genes was evaluated through Receiver Operator Characteristic Curve analysis.
Results:
A total of 184 common DEGs in DCM and AF were identified for subsequent analyses. The functions of hub genes were significantly associated with immune responses. We identified 7 hub immune-related genes (HLA-DRA, LCK, ITK, CD48, CD247, CD3D, and IL2RG) and a spectrum of immune cell subsets including Monocyte, Neutrophil, and follicular helper T (Tfh) cells were found to be concurrently dysregulated in both DCM and AF. 7 hub immune-related genes were predominantly favorably correlated with Tfh cells and were primarily negatively correlated with Neutrophil infiltrations in DCM and AF. CD48+CD3D were verified to diagnose DCM and AF with excellent sensitivity and specificity, showing favorable diagnostic value.
Conclusions:
Our study reveals that immune cells (Tfh cells) disorders caused by hub immune-related genes (CD48 and CD3D) may be the common pathogenesis of DCM combined with AF, which lays a foundation for further immune mechanism research.
Related Concept Videos
Myocarditis I: Introduction
Cardiomyopathy II: Dilated Cardiomyopathy
Cardiomyopathy I: Introduction and Classification
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Cardiomyopathy IV: Restrictive Cardiomyopathy

