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Arrhythmias: Molecular Mechanisms and Therapeutic Strategies
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Arrhythmias: Molecular Mechanisms and Therapeutic Strategies

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 20 September 2025 | Viewed by 5428

Special Issue Editor

Dr. Yung-Lung Chen

E-Mail Website
Guest Editor
Section of Cardiology, Department of Internal Medicine, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung 83301, Taiwan
Interests: SGLT2 inhibitors; antioxidants; diabetes; cardiovascular diseases; sleep apnea; ion channel; gap junction; prognosis; biomarker; arrhythmia

Special Issue Information

Dear Colleagues,

Sleep-disordered breathing (SDB) is defined by alterations in respiratory patterns that occur during sleep. The SDB subtypes are obstructive sleep apnea (OSA), central sleep apnea (CSA) and CSA–Cheyne–Stokes breathing (CSB). SDB has a negative impact on cardiovascular and neuroendocrine functions, as well as the quality of life. Therefore, it is a significant issue in both clinical and public health contexts. OSA is a common condition that affects approximately 1 billion persons globally.

The physiological pressures associated with SDB lead to long-lasting biological repercussions. These effects ultimately cause changes in the cardiovascular system, increasing the likelihood of developing cardiac arrhythmias. Specific triggers that cause arrhythmias in individuals with SDB have been identified through clinical and experimental studies. Reducing the intensity of these triggers seems to improve the negative effects of SDB. While arrhythmias have a wide range of phenotypes and causes (automaticity, triggered activity and re-entry), they all have cellular electrophysiologic characteristics. These include anomalies in action potential generation, repolarization or conduction caused by a complex interaction of molecular biology, ion channels, connexin and their intracellular control, as well as electrophysiological remodeling. Therefore, it is crucial to enhance our understanding of the molecular and electrophysiological mechanisms behind cardiac arrhythmias in patients with SDB in order to develop an accurate diagnostic and effective treatment plan.

This Special Issue will provide readers with updated information on the involvement of inflammation, oxidative stress, autonomic nerve system dysfunction, electrophysiologic alternation, ion channel, connexin and metabolic dysregulation in the molecular mechanisms of cardiac arrhythmias, specifically atrial fibrillation, ventricular arrhythmia, sudden cardiac death and bradycardia. The content will cover the transition from laboratory research to clinical applications. The articles will concentrate on the existing knowledge, significant unresolved concerns and forthcoming research to establish an advanced therapy for cardiac arrhythmias due to SDB.

Dr. Yung-Lung Chen
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • cardiac arrhythmias
  • atrial fibrillation
  • ventricular arrhythmia
  • electrophysiologic alternation
  • ion channel
  • connexin
  • autonomic nerve system dysfunction
  • sleep-disordered breathing
  • obstructive sleep apnea

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Published Papers (3 papers)

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Research

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13 pages, 251 KiB  
Article
Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study
by Maria d’Apolito, Francesco Santoro, Alessandra Ranaldi, Sara Cannito, Rosa Santacroce, Ilaria Ragnatela, Alessandra Margaglione, Giovanna D’Andrea, Natale Daniele Brunetti and Maurizio Margaglione
Int. J. Mol. Sci. 2025, 26(3), 1200; https://doi.org/10.3390/ijms26031200 - 30 Jan 2025
Viewed by 894
Abstract
Inherited arrhythmia syndromes include several different diseases, as well as Brugada syndrome (BrS), long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and short QT syndrome (SQTS). They represent, together with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), an important cause of sudden cardiac death [...] Read more.
Inherited arrhythmia syndromes include several different diseases, as well as Brugada syndrome (BrS), long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and short QT syndrome (SQTS). They represent, together with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), an important cause of sudden cardiac death in the young. Most arrhythmia syndromes are inherited in an autosomal dominant manner, and genetic studies are suggested.: to report the spectrum of genetic variations and clinical phenotype in an Italian cohort with confirmed inherited arrhythmia syndromes and arrhythmogenic cardiomyopathy using whole-exome sequencing (WES). Patients with confirmed inherited arrhythmia syndromes and hereditary cardiomyopathy were recruited at the Cardiology Unit, University Polyclinic Hospital of Foggia, Italy and were included in this study. Genomic DNA samples were extracted from peripheral blood and conducted for WES. The variants were annotated using BaseSpace Variant Interpreter Annotation Engine 3.15.0.0 (Illumina). Reported variants were investigated using ClinVar, VarSome Franklin and a literature review. They were categorised agreeing to the criteria of the American College of Medical Genetics and Genomics. Overall, 62 patients were enrolled. Most of them had a clinical diagnosis of BrS (n 48, 77%). The remaining patients included in the present study had diagnosis of confirmed LQT (n 7, 11%), AR-DCM (n 4, 6.5%), ARVD (n 2, 3%), and SQT (n 1, 1.6%). Using the WES technique, 22 variants in 15 genes associated with Brugada syndrome were identified in 21 patients (34%). Among these, the SCN5A gene had the highest number of variants (6 variants, 27%), followed by KCNJ5 and CASQ2 (2 variants). Only one variant was identified in the remaining genes. In 27 patients with a clinical diagnosis of BrS, no gene variant was detected. In patients with confirmed LQT, SQT, 10 variants in 9 genes were identified. Among patients with ARVD and AR-DCM, 6 variants in 5 genes were found. Variants found in our cohort were classified as pathogenic (6), likely pathogenic (3), of uncertain significance (26), and benign (1). Two additional gene variants were classified as risk factors. In this study, 13 novel genetic variations were recognized to be associated with inherited arrhythmogenic cardiomyopathies. Our understanding of inherited arrhythmia syndromes continues to progress. The era of next-generation sequencing has advanced quickly, given new genetic evidence including pathogenicity, background genetic noise, and increased discovery of variants of uncertain significance. Although NGS study has some limits in finding the full genetic data of probands, large-scale gene sequencing can promptly be applied in real clinical practices, especially in inherited and possibly fatal arrhythmia syndromes. Full article
(This article belongs to the Special Issue Arrhythmias: Molecular Mechanisms and Therapeutic Strategies)

Review

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19 pages, 1055 KiB  
Review
Clonal Hematopoiesis of Indeterminate Potential and Atrial Fibrillation: Insights into Pathophysiology and Clinical Implications
by Paschalis Karakasis, Panagiotis Theofilis, Eleftheria Lefkou, Antonios P. Antoniadis, Dimitrios Patoulias, Panagiotis Korantzopoulos and Nikolaos Fragakis
Int. J. Mol. Sci. 2025, 26(6), 2739; https://doi.org/10.3390/ijms26062739 - 18 Mar 2025
Viewed by 1055
Abstract
Clonal hematopoiesis of indeterminate potential (CHIP) has emerged as a novel risk factor for cardiovascular diseases. CHIP is characterized by the expansion of hematopoietic stem cell clones harboring somatic mutations in genes such as TET2, DNMT3A, and ASXL1, which are implicated in inflammation, [...] Read more.
Clonal hematopoiesis of indeterminate potential (CHIP) has emerged as a novel risk factor for cardiovascular diseases. CHIP is characterized by the expansion of hematopoietic stem cell clones harboring somatic mutations in genes such as TET2, DNMT3A, and ASXL1, which are implicated in inflammation, atrial remodeling, and hypercoagulability. These mutations foster a pro-inflammatory and pro-thrombotic environment conducive to arrhythmogenesis, thereby linking CHIP to the development and progression of atrial fibrillation (AF). Mechanistic insights indicate that CHIP contributes to atrial fibrosis, disrupts calcium signaling, and exacerbates oxidative stress, all of which heighten susceptibility to AF. Clinical studies, including epidemiological and Mendelian randomization analyses, further support the association between CHIP and an increased risk of both incident and progressive AF, with specific mutations such as TET2 and ASXL1 identified as significant contributors. Additionally, CHIP has been linked to adverse outcomes in AF, including elevated rates of heart failure, thromboembolism, and mortality. Understanding CHIP’s role in AF pathophysiology offers opportunities for the development of precision medicine approaches, providing novel avenues for early intervention and targeted AF treatment. This review synthesizes current mechanistic and clinical evidence on the role of CHIP in AF, emphasizes its potential as a biomarker for risk stratification, and explores emerging therapeutic strategies targeting CHIP-associated pathways. Full article
(This article belongs to the Special Issue Arrhythmias: Molecular Mechanisms and Therapeutic Strategies)
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26 pages, 1420 KiB  
Review
Atrial Fibrosis in Atrial Fibrillation: Mechanistic Insights, Diagnostic Challenges, and Emerging Therapeutic Targets
by Paschalis Karakasis, Panagiotis Theofilis, Panayotis K. Vlachakis, Panagiotis Korantzopoulos, Dimitrios Patoulias, Antonios P. Antoniadis and Nikolaos Fragakis
Int. J. Mol. Sci. 2025, 26(1), 209; https://doi.org/10.3390/ijms26010209 - 30 Dec 2024
Cited by 7 | Viewed by 2916
Abstract
Atrial fibrosis is a hallmark of atrial cardiomyopathy and plays a pivotal role in the pathogenesis of atrial fibrillation (AF), contributing to its onset and progression. The mechanisms underlying atrial fibrosis are multifaceted, involving stretch-induced fibroblast activation, oxidative stress, inflammation, and coagulation pathways. [...] Read more.
Atrial fibrosis is a hallmark of atrial cardiomyopathy and plays a pivotal role in the pathogenesis of atrial fibrillation (AF), contributing to its onset and progression. The mechanisms underlying atrial fibrosis are multifaceted, involving stretch-induced fibroblast activation, oxidative stress, inflammation, and coagulation pathways. Variations in fibrosis types—reactive and replacement fibrosis—are influenced by patient-specific factors such as age, sex, and comorbidities, complicating therapeutic approaches. The heterogeneity of fibrosis leads to distinct electrophysiological abnormalities that promote AF via reentrant activity and enhanced automaticity mechanisms. Despite advancements in imaging, such as late gadolinium enhancement CMR and electroanatomical mapping, challenges in accurately quantifying fibrosis persist. Emerging therapeutic strategies include antifibrotic agents targeting the renin–angiotensin–aldosterone system, novel pathways like TGF-β signaling, and cardio-metabolic drugs like SGLT2 inhibitors and GLP-1 receptor agonists. Innovative interventions, including microRNA modulation and lipid nanoparticle-based therapies, show promise but require validation. Knowledge gaps remain in correlating clinical outcomes with fibrosis patterns and optimizing diagnostic tools. Future research should focus on precise phenotyping, integrating advanced imaging with molecular biomarkers, and conducting robust trials to evaluate antifibrotic therapies’ efficacy in reducing AF burden and related complications. Full article
(This article belongs to the Special Issue Arrhythmias: Molecular Mechanisms and Therapeutic Strategies)
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