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Pathogenesis, Diagnosis and Treatment of Cardiomyopathy and Cardiac Arrhythmias (2nd...
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Pathogenesis, Diagnosis and Treatment of Cardiomyopathy and Cardiac Arrhythmias (2nd Edition)

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: 30 September 2025 | Viewed by 4802

Special Issue Editor

Dr. Sung Il Im

E-Mail Website
Guest Editor
Division of Cardiology, Department of Internal Medicine, Kosin University Gospel Hospital, Kosin University College of Medicine, Busan, Republic of Korea
Interests: atrial functional study; cryoablation technique for AF; arrhythmogenesis and inflammation in patients with AF; 3D-guided VT ablation; ventricular arrhythmia; VPC and hemodynamics; VPC and stroke
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Arrhythmias significantly contribute to increased morbidity and mortality, and cardiomyopathies (CM) are the leading cause of syncope and sudden cardiac death (SCD) in young people. Electrocardiographic findings and arrhythmias are closely related to cardiomyopathies. Both may be an early indication of a specific diagnosis or are the consequence of structural changes in a heart with myocardial fibrosis and decreased contractility. The spectrum of arrhythmias ranges from bradyarrhythmia to atrial and/or ventricular premature beats to atrial tachyarrhythmia and/or life-threatening ventricular arrhythmia. Atrial fibrillation (AF) represents the most common arrhythmia and is associated with an increased risk of cardio-thromboembolic events, heart failure and mortality in patients with CM, and there is growing evidence for atrial fibrillation ablation in an era of steadily increasing catheter ablation in patients with atrial fibrillation without CM. SCD prevention plays an important role in the new recommendations. These guidelines include five Class I indications for intracardiac defibrillator (ICD) treatment for CM as secondary preventions and are consistent with the 2022 ESC Guidelines for ventricular arrhythmia patient management and SCD prevention. This extends previously established individualized decision-making concepts and supports individual management and risk stratification by etiology. Recommendations for genetic testing have increased, and the guidelines acknowledge the growing evidence for specific high-risk genotypes, regardless of left ventricular morphology and function. For example, this includes a Class I recommendation for genetic testing in all patients who meet the diagnostic criteria for CM and serial genetic testing of relatives if there is a possibility of pathologic variants in the index patient. Alongside genetic testing, the role of cardiac MRI has increased in recent years, but randomized trials to guide ICD therapy are still lacking. Therefore, most guidelines emphasize the importance of an etiology-based, tailored, individualized management approach that integrates the patient’s medical history, electrocardiogram (ECG) and echocardiography, CMR, laboratory analyses, genetics and electrophysiological studies.

The scope of this Special Issue encompasses various aspects of cardiomyopathy and cardiac arrhythmias, including but not limited to:

  • The identification and characterization of underlying mechanisms and genetic factors contributing to cardiomyopathy and cardiac arrhythmias.
  • Advances in diagnostic modalities, such as innovative imaging techniques, molecular markers, genetics and electrophysiological studies.
  • Evaluation of novel therapeutic strategies and pharmacological interventions.

Dr. Sung Il Im
Guest Editor

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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). 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

  • arrhythmia
  • cardiomyopathy
  • pathogenesis
  • diagnosis

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Related Special Issue

Published Papers (5 papers)

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Research

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16 pages, 2383 KB  
Article
Left Bundle Branch Area Pacing Prevents New-Onset Atrial Fibrillation and Improves Echocardiographic Parameters Compared with Right Ventricular Pacing in Patients with Bradyarrhythmias
by Adrian-Ionuț Ungureanu, Georgică Târtea, Eugen Țieranu, Cristina Elena Negroiu, Gianina Cristiana Moise, Radu Mitruț, Victor Raicea, Radu-Gabriel Vătășescu and Paul Mitruț
Biomedicines 2025, 13(6), 1374; https://doi.org/10.3390/biomedicines13061374 - 4 Jun 2025
Viewed by 842
Abstract
Background/Objectives:Pacing treatment of bradyarrhythmias is both to reduce symptoms and to prevent syncope and sudden cardiac death. The aim of our study was to analyze left bundle branch area pacing (LBBAP) in the prevention of new-onset AF and the improvement of echocardiographic [...] Read more.
Background/Objectives:Pacing treatment of bradyarrhythmias is both to reduce symptoms and to prevent syncope and sudden cardiac death. The aim of our study was to analyze left bundle branch area pacing (LBBAP) in the prevention of new-onset AF and the improvement of echocardiographic parameters in patients with mildly reduced left ventricular ejection fraction (LVEF) compared to patients with bradyarrhythmias but preserved LVEF who underwent mid-septal right ventricular pacing. Methods: This research was structured as a retrospective observational cohort study that included 186 patients with LBBAP and 186 patients with RVP, enrolled for 3 years until March 2024 with a follow-up time of 1 year. The primary endpoint of our study was new-onset atrial fibrillation after pacemaker implantation. The secondary endpoint was the improvement of echocardiographic parameters. Results: We observed in the LBBAP group a mean QRS complex duration of 108.7 ± 8.83 ms (after pacemaker implantation), compared to a much longer duration in the RVP group (143.8 ± 9.851 ms, p = <0.0001). At 1 year of follow-up, 22 (11.82%) patients in the RVP group were diagnosed with new-onset atrial fibrillation, compared to 6 (3.22%) patients out of 186 included in the LBBAP group (p = 0.0017). Regarding LVEF, at follow-up, RVP patients had a decrease in LVEF compared to those in the LBBAP group who had an improved LVEF (54.54 ± 3.77%, p < 0.0001). Conclusions: LBBAP both prevents the onset of atrial fibrillation and improves echocardiographic parameters, especially left ventricular ejection fraction, thus contributing to significantly reducing the risk of developing/worsening advanced heart failure through pacing-induced cardiomyopathy. Full article
(This article belongs to the Special Issue Pathogenesis, Diagnosis and Treatment of Cardiomyopathy and Cardiac Arrhythmias (2nd Edition))
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13 pages, 552 KB  
Article
The Risk of Arrhythmias in Patients with COVID-19
by Lina Haj Ali, Loredana Suhov, Adrian Apostol, Larissa Dăniluc, Oana Sandu, Carina Bogdan and Viviana Mihaela Ivan
Biomedicines 2025, 13(6), 1368; https://doi.org/10.3390/biomedicines13061368 - 3 Jun 2025
Viewed by 677
Abstract
Background and Objectives: Cardiac arrhythmias during the SARS-CoV-2 infection may occur due to the direct impact of the virus on the respiratory and cardiovascular systems, as well as through the broader effects of systemic inflammation, or a combination of both. Additional mechanisms include [...] Read more.
Background and Objectives: Cardiac arrhythmias during the SARS-CoV-2 infection may occur due to the direct impact of the virus on the respiratory and cardiovascular systems, as well as through the broader effects of systemic inflammation, or a combination of both. Additional mechanisms include the proarrhythmic effects of COVID-19 pharmacotherapies, drug–drug interactions, and associated autonomic dysfunction. To improve future risk stratification and clinical management, it is essential to accurately assess the risk of arrhythmia in the context of severe infections, in order to develop diagnostic and therapeutic algorithms that support the fastest and safest possible interventions. Materials and Methods: This retrospective observational study included 151 patients diagnosed with COVID-19, who were hospitalized at the Cardiology Clinic of the Timisoara County Emergency Hospital between 2020 and 2022. Results: The most common arrhythmia observed was atrial fibrillation. Elevated inflammatory markers were associated with a higher risk of arrhythmias and increased mortality. Conclusions: The onset of sepsis, as indicated by the laboratory markers, was associated with increased incidence of arrhythmias and unfavorable outcome of the disease. Full article
(This article belongs to the Special Issue Pathogenesis, Diagnosis and Treatment of Cardiomyopathy and Cardiac Arrhythmias (2nd Edition))
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22 pages, 3303 KB  
Article
Disparate Molecular Properties of Two Hypertrophic Cardiomyopathy-Associated cMyBP-C Mutants Reveal Distinct Pathogenic Mechanisms Beyond Haploinsufficiency
by Angelos Thanassoulas, Emna Riguene, Maria Theodoridou, Laila Barrak, Hamad Almaraghi, Mohammed Hussain, Sahar Isa Da’as, Mohamed A. Elrayess, F. Anthony Lai and Michail Nomikos
Biomedicines 2025, 13(5), 1010; https://doi.org/10.3390/biomedicines13051010 - 22 Apr 2025
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Abstract
Background/Objectives: Hypertrophic cardiomyopathy (HCM) is a common genetic cardiac disorder marked by abnormal thickening of the left ventricular myocardium, often leading to arrhythmias and heart failure. Mutations in sarcomeric protein genes, particularly MYBPC3, which encodes cardiac myosin-binding protein C (cMyBP-C), are [...] Read more.
Background/Objectives: Hypertrophic cardiomyopathy (HCM) is a common genetic cardiac disorder marked by abnormal thickening of the left ventricular myocardium, often leading to arrhythmias and heart failure. Mutations in sarcomeric protein genes, particularly MYBPC3, which encodes cardiac myosin-binding protein C (cMyBP-C), are major contributors to HCM pathogenesis. This study aims to investigate the structural and functional effects of two HCM-associated missense mutations, p.S236G and p.E334K, located within the C0–C2 domains of cMyBP-C. Methods: Following in silico analysis, a bacterial expression system was applied, enabling the discrete C0–C2 domains of wild-type (cMyBP-CWT) and mutant (cMyBP-CS236G and cMyBP-CE334K) cMyBP-C proteins to be expressed and purified as recombinant proteins. Structural and stability changes were assessed using circular dichroism (CD), differential scanning calorimetry (DSC), and chemical denaturation assays. Functional impact on actin binding was also evaluated in vitro. Results: CD analysis revealed altered secondary structure in both mutants compared to the wild-type protein. Thermal and chemical stability assays indicated increased stability in the cMyBP-CE334K mutant, suggesting that it exhibits a more rigid conformation. This increased rigidity corresponded with a significant reduction in the actin-binding affinity relative to the wild-type protein. Conclusions: Our findings demonstrate specific detrimental effects of the p.E334K mutation and underscore the importance of understanding the structural and functional consequences of HCM-associated mutations to assist the development of targeted therapeutic strategies. Full article
(This article belongs to the Special Issue Pathogenesis, Diagnosis and Treatment of Cardiomyopathy and Cardiac Arrhythmias (2nd Edition))
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Review

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12 pages, 527 KB  
Review
Catheter Ablation of Frequent PVCs in Structural Heart Disease: Impact on Left Ventricular Function and Clinical Outcomes
by Nikias Milaras, Nikolaos Ktenopoulos, Paschalis Karakasis, Aikaterini-Eleftheria Karanikola, Vasileios Michopoulos, Konstantinos Pamporis, Panagiotis Dourvas, Anastasios Apostolos, Zoi Sotiriou, Stefanos Archontakis, Athanasios Kordalis, Konstantinos Gatzoulis and Skevos Sideris
Biomedicines 2025, 13(6), 1488; https://doi.org/10.3390/biomedicines13061488 - 17 Jun 2025
Viewed by 866
Abstract
Background: Frequent premature ventricular complexes (PVCs) are associated with adverse outcomes in patients with structural heart disease (SHD), including increased risk of mortality and impaired left ventricular ejection fraction (LVEF). While radiofrequency ablation (RFA) of idiopathic PVCs is well established, its role in [...] Read more.
Background: Frequent premature ventricular complexes (PVCs) are associated with adverse outcomes in patients with structural heart disease (SHD), including increased risk of mortality and impaired left ventricular ejection fraction (LVEF). While radiofrequency ablation (RFA) of idiopathic PVCs is well established, its role in patients with SHD remains less clear. Objective: To review the evidence on the efficacy of RFA for PVC suppression in patients with SHD, specifically evaluating its impact on LVEF and clinical outcomes. Methods: A review of the literature was conducted using PubMed and the Cochrane Library, focusing on studies published after 2010 that included adult patients with SHD and a PVC burden >4% on 24 h Holter monitoring. Studies including patients with presumed PVC-induced cardiomyopathy without underlying SHD were excluded. Key outcomes were LVEF recovery, functional status, and procedural success rates. Results: In ischemic cardiomyopathy, RFA reduced PVC burden significantly and resulted in modest but significant LVEF improvement. In non-ischemic cardiomyopathy, successful ablation improved LVEF by 8–12% on average and enhanced NYHA class. Across mixed cohorts, patients with sustained PVC suppression showed significant improvements in LVEF, functional status, which, in many cases, removed the indication for implantable cardioverter-defibrillators. Notably, procedural success rates ranged from 60 to 94%, and the high baseline PVC burden (>13–20%) consistently predicted LVEF recovery regardless of SHD etiology. Conclusions: RFA of frequent PVCs in patients with SHD leads to meaningful improvements in systolic function and symptoms, particularly in those with high PVC burden. These benefits are seen across ischemic and non-ischemic substrates, although procedural complexity and recurrence rates may be higher. PVC burden, rather than SHD presence alone, should guide patient selection for ablation. Full article
(This article belongs to the Special Issue Pathogenesis, Diagnosis and Treatment of Cardiomyopathy and Cardiac Arrhythmias (2nd Edition))
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14 pages, 779 KB  
Review
Macrolide Antibiotic Mediated Cardiac Arrhythmias: Emerging Concepts and Clinical Implications
by Fatima Iqbal, Alyssa Derouen, Robin Ren, Adam M. Kaye, Shahab Ahmadzadeh, Sahar Shekoohi and Alan D. Kaye
Biomedicines 2025, 13(6), 1478; https://doi.org/10.3390/biomedicines13061478 - 16 Jun 2025
Viewed by 1342
Abstract
The macrolide class of antibiotics are widely utilized in clinical settings for a broad range of bacterial infections and have additional roles as immunomodulatory agents. Although efficacious with a good safety profile overall, they have been associated with prolongation of the QT interval [...] Read more.
The macrolide class of antibiotics are widely utilized in clinical settings for a broad range of bacterial infections and have additional roles as immunomodulatory agents. Although efficacious with a good safety profile overall, they have been associated with prolongation of the QT interval and development of the polymorphic ventricular tachycardia, Torsades de pointes (TdP). In a 2020 scientific statement, the American Heart Association (AHA) classified azithromycin, clarithromycin and erythromycin as QT-prolonging drugs known to cause TdP and the online database, CredibleMeds, that maintains a list of drugs known to cause QT prolongation classifies these drugs as having an increased risk of QT prolongation. The mechanism of this risk has been delineated to involve macrolide binding to and a blockade of delayed rectifier potassium channels that conduct rapid potassium current, Ikr, during repolarization, leading to prolonged repolarization and subsequent QT prolongation. Studies investigating this association have revealed variable results, with several suggesting that the risk of QT prolongation and TdP with macrolide use may be highly dependent on underlying patient risk factors and comorbidities. In the present investigation, we summarize current evidence on association of macrolide antibiotics, azithromycin, clarithromycin and erythromycin, with the development of QT prolongation and TdP, pathophysiology of and risk factors predisposing to development of these events, the role of implementation of strategies to reduce this risk and highlight emerging research. Full article
(This article belongs to the Special Issue Pathogenesis, Diagnosis and Treatment of Cardiomyopathy and Cardiac Arrhythmias (2nd Edition))
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