Pathogenesis, Diagnosis and Treatment of Cardiomyopathy and Cardiac Arrhythmias (3rd 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 June 2026 | Viewed by 2605

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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
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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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Keywords

  • arrhythmia
  • cardiomyopathy
  • pathogenesis
  • diagnosis

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Review

32 pages, 4758 KB  
Review
Hypertrophic Cardiomyopathy Phenocopies: Classification, Key Features, and Differential Diagnosis
by Lucio Teresi, Giancarlo Trimarchi, Roberto Licordari, Davide Restelli, Giovanni Taverna, Paolo Liotta, Antonino Micari, Ignazio Smecca, Gregory Dendramis, Dario Turturiello, Alessia Chiara Latini, Giulio Falasconi, Cesare de Gregorio, Pasquale Crea, Giuseppe Dattilo, Antonio Berruezo, Antonio Micari and Gianluca Di Bella
Biomedicines 2025, 13(12), 3062; https://doi.org/10.3390/biomedicines13123062 - 12 Dec 2025
Cited by 5 | Viewed by 2356
Abstract
Among cardiomyopathies, the hypertrophic phenotype is the most common, and hypertrophic cardiomyopathy (HCM) phenocopies represent a heterogeneous group of conditions. They are defined by a left ventricular wall thickness ≥15 mm in the absence of other causes such as loading conditions, ischemia, or [...] Read more.
Among cardiomyopathies, the hypertrophic phenotype is the most common, and hypertrophic cardiomyopathy (HCM) phenocopies represent a heterogeneous group of conditions. They are defined by a left ventricular wall thickness ≥15 mm in the absence of other causes such as loading conditions, ischemia, or valvular disease. Although they mimic similar clinical and morphological features, their etiologies are distinct and include genetic, metabolic, and infiltrative mechanisms. Therefore, accurate classification and differential diagnosis are crucial for effective management and treatment. Sarcomeric HCM is the most frequent form, accounting for up to 60% of cases. However, numerous non-sarcomeric phenocopies exist, including amyloidosis, Fabry disease, glycogen storage disorders, RASopathies, and mitochondrial diseases. Clinical and imaging findings are essential to distinguish these entities from sarcomeric HCM. Electrocardiography, echocardiography, advanced modalities such as cardiac magnetic resonance (CMR), and specific laboratory tests all play a central role in guiding diagnosis. Genetic testing provides key insights into mutations and inheritance patterns, further supporting definitive diagnosis. Correct identification of an HCM phenocopy carries important therapeutic implications, as disease-specific treatments can significantly improve prognosis. For example, targeted therapies exist for amyloidosis, Fabry disease, and certain metabolic or mitochondrial disorders, underlining the clinical relevance of an accurate diagnosis. This review aims to provide an overview of HCM phenocopies and assist clinicians in diagnostic reasoning. The first part addresses classification according to pathophysiological mechanisms, clinical features, and genetic background. The second part focuses on the stepwise approach to differential diagnosis, integrating clinical assessment, laboratory evaluation, ECG, echocardiography, and CMR findings. Full article
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