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Genetic Basis and Molecular Mechanisms of Heart Rhythm Disorders
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Genetic Basis and Molecular Mechanisms of Heart Rhythm Disorders

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Biology".

Deadline for manuscript submissions: closed (31 December 2023) | Viewed by 31976

Special Issue Editor

Dr. Hector Barajas-Martinez

E-Mail Website
Guest Editor
Lankenau Institute for Medical Research, 100 Lancaster Ave, Wynnewood, PA 19096, USA
Interests: molecular genetics; sudden cardiac death; ion channels; arrhythmias; translation medicine; pharmacology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Among the inherited ion channelopathies associated with potentially life-threatening ventricular arrhythmia syndromes in nominally structurally normal hearts are the J-wave syndromes, which include the Brugada (BrS) and early repolarization (ERS) syndromes. These ion channelopathies are responsible for sudden cardiac death (SCD), most often in young adults in the third and fourth decade of life. Although great progress has been made in the past few decades, the genetic basis and molecular mechanisms for such syndromes remains largely unclear.

This Special Issue will focus on basic research on cellular and animal models and patient data and samples, and will collect reviews and original research articles that expand knowledge in the field of J-wave syndromes linked with life-threatening ventricular arrhythmias and sudden cardiac death. Potential topics include, but are not limited to, the contribution of the molecular, ionic, cellular, and genetic mechanisms underlying these primary electrical diseases.

Dr. Hector Barajas-Martinez
Guest Editor

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Keywords

  • sudden cardiac death
  • Brugada syndrome
  • early repolarization syndrome
  • cardiac arrhythmias
  • ventricular tachycardia
  • ventricular fibrillation
  • inherited cardiac arrhythmia syndromes
  • J-wave syndromes

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Published Papers (6 papers)

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Research

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14 pages, 1311 KiB  
Article
Molecular and Electrophysiological Role of Diabetes-Associated Circulating Inflammatory Factors in Cardiac Arrhythmia Remodeling in a Metabolic-Induced Model of Type 2 Diabetic Rat
by Julian Zayas-Arrabal, Amaia Alquiza, Erkan Tuncay, Belma Turan, Monica Gallego and Oscar Casis
Int. J. Mol. Sci. 2021, 22(13), 6827; https://doi.org/10.3390/ijms22136827 - 25 Jun 2021
Cited by 8 | Viewed by 3109
Abstract
Background: Diabetic patients have prolonged cardiac repolarization and higher risk of arrhythmia. Besides, diabetes activates the innate immune system, resulting in higher levels of plasmatic cytokines, which are described to prolong ventricular repolarization. Methods: We characterize a metabolic model of type 2 diabetes [...] Read more.
Background: Diabetic patients have prolonged cardiac repolarization and higher risk of arrhythmia. Besides, diabetes activates the innate immune system, resulting in higher levels of plasmatic cytokines, which are described to prolong ventricular repolarization. Methods: We characterize a metabolic model of type 2 diabetes (T2D) with prolonged cardiac repolarization. Sprague-Dawley rats were fed on a high-fat diet (45% Kcal from fat) for 6 weeks, and a low dose of streptozotozin intraperitoneally injected at week 2. Body weight and fasting blood glucose were measured and electrocardiograms of conscious animals were recorded weekly. Plasmatic lipid profile, insulin, cytokines, and arrhythmia susceptibility were determined at the end of the experimental period. Outward K+ currents and action potentials were recorded in isolated ventricular myocytes by patch-clamp. Results: T2D animals showed insulin resistance, hyperglycemia, and elevated levels of plasma cholesterol, triglycerides, TNFα, and IL-1b. They also developed bradycardia and prolonged QTc-interval duration that resulted in increased susceptibility to severe ventricular tachycardia under cardiac challenge. Action potential duration (APD) was prolonged in control cardiomyocytes incubated 24 h with plasma isolated from diabetic rats. However, adding TNFα and IL-1b receptor blockers to the serum of diabetic animals prevented the increased APD. Conclusions: The elevation of the circulating levels of TNFα and IL-1b are responsible for impaired ventricular repolarization and higher susceptibility to cardiac arrhythmia in our metabolic model of T2D. Full article
(This article belongs to the Special Issue Genetic Basis and Molecular Mechanisms of Heart Rhythm Disorders)
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20 pages, 5267 KiB  
Article
Dystrophin Deficiency Causes Progressive Depletion of Cardiovascular Progenitor Cells in the Heart
by Sarka Jelinkova, Yvonne Sleiman, Petr Fojtík, Franck Aimond, Amanda Finan, Gerald Hugon, Valerie Scheuermann, Deborah Beckerová, Olivier Cazorla, Marie Vincenti, Pascal Amedro, Sylvain Richard, Josef Jaros, Petr Dvorak, Alain Lacampagne, Gilles Carnac, Vladimir Rotrekl and Albano C. Meli
Int. J. Mol. Sci. 2021, 22(9), 5025; https://doi.org/10.3390/ijms22095025 - 10 May 2021
Cited by 1 | Viewed by 4373
Abstract
Duchenne muscular dystrophy (DMD) is a devastating condition shortening the lifespan of young men. DMD patients suffer from age-related dilated cardiomyopathy (DCM) that leads to heart failure. Several molecular mechanisms leading to cardiomyocyte death in DMD have been described. However, the pathological progression [...] Read more.
Duchenne muscular dystrophy (DMD) is a devastating condition shortening the lifespan of young men. DMD patients suffer from age-related dilated cardiomyopathy (DCM) that leads to heart failure. Several molecular mechanisms leading to cardiomyocyte death in DMD have been described. However, the pathological progression of DMD-associated DCM remains unclear. In skeletal muscle, a dramatic decrease in stem cells, so-called satellite cells, has been shown in DMD patients. Whether similar dysfunction occurs with cardiac muscle cardiovascular progenitor cells (CVPCs) in DMD remains to be explored. We hypothesized that the number of CVPCs decreases in the dystrophin-deficient heart with age and disease state, contributing to DCM progression. We used the dystrophin-deficient mouse model (mdx) to investigate age-dependent CVPC properties. Using quantitative PCR, flow cytometry, speckle tracking echocardiography, and immunofluorescence, we revealed that young mdx mice exhibit elevated CVPCs. We observed a rapid age-related CVPC depletion, coinciding with the progressive onset of cardiac dysfunction. Moreover, mdx CVPCs displayed increased DNA damage, suggesting impaired cardiac muscle homeostasis. Overall, our results identify the early recruitment of CVPCs in dystrophic hearts and their fast depletion with ageing. This latter depletion may participate in the fibrosis development and the acceleration onset of the cardiomyopathy. Full article
(This article belongs to the Special Issue Genetic Basis and Molecular Mechanisms of Heart Rhythm Disorders)
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15 pages, 4523 KiB  
Article
Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset
by Andreas Brodehl, Alexey Meshkov, Roman Myasnikov, Anna Kiseleva, Olga Kulikova, Bärbel Klauke, Evgeniia Sotnikova, Caroline Stanasiuk, Mikhail Divashuk, Greta Marie Pohl, Maria Kudryavtseva, Karin Klingel, Brenda Gerull, Anastasia Zharikova, Jan Gummert, Sergey Koretskiy, Stephan Schubert, Elena Mershina, Anna Gärtner, Polina Pilus, Kai Thorsten Laser, Valentin Sinitsyn, Sergey Boytsov, Oxana Drapkina and Hendrik Miltingadd Show full author list remove Hide full author list
Int. J. Mol. Sci. 2021, 22(7), 3786; https://doi.org/10.3390/ijms22073786 - 6 Apr 2021
Cited by 22 | Viewed by 4514
Abstract
About 50% of patients with arrhythmogenic cardiomyopathy (ACM) carry a pathogenic or likely pathogenic mutation in the desmosomal genes. However, there is a significant number of patients without positive familial anamnesis. Therefore, the molecular reasons for ACM in these patients are frequently unknown [...] Read more.
About 50% of patients with arrhythmogenic cardiomyopathy (ACM) carry a pathogenic or likely pathogenic mutation in the desmosomal genes. However, there is a significant number of patients without positive familial anamnesis. Therefore, the molecular reasons for ACM in these patients are frequently unknown and a genetic contribution might be underestimated. Here, we used a next-generation sequencing (NGS) approach and in addition single nucleotide polymor-phism (SNP) arrays for the genetic analysis of two independent index patients without familial medical history. Of note, this genetic strategy revealed a homozygous splice site mutation (DSG2–c.378+1G>T) in the first patient and a nonsense mutation (DSG2–p.L772X) in combination with a large deletion in DSG2 in the second one. In conclusion, a recessive inheritance pattern is likely for both cases, which might contribute to the hidden medical history in both families. This is the first report about these novel loss-of-function mutations in DSG2 that have not been previously identi-fied. Therefore, we suggest performing deep genetic analyses using NGS in combination with SNP arrays also for ACM index patients without obvious familial medical history. In the future, this finding might has relevance for the genetic counseling of similar cases. Full article
(This article belongs to the Special Issue Genetic Basis and Molecular Mechanisms of Heart Rhythm Disorders)
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Review

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41 pages, 7000 KiB  
Review
Primary Electrical Heart Disease—Principles of Pathophysiology and Genetics
by Krzysztof Badura, Dominika Buławska, Bartłomiej Dąbek, Alicja Witkowska, Wiktoria Lisińska, Ewa Radzioch, Sylwia Skwira, Ewelina Młynarska, Jacek Rysz and Beata Franczyk
Int. J. Mol. Sci. 2024, 25(3), 1826; https://doi.org/10.3390/ijms25031826 - 2 Feb 2024
Cited by 5 | Viewed by 3517
Abstract
Primary electrical heart diseases, often considered channelopathies, are inherited genetic abnormalities of cardiomyocyte electrical behavior carrying the risk of malignant arrhythmias leading to sudden cardiac death (SCD). Approximately 54% of sudden, unexpected deaths in individuals under the age of 35 do not exhibit [...] Read more.
Primary electrical heart diseases, often considered channelopathies, are inherited genetic abnormalities of cardiomyocyte electrical behavior carrying the risk of malignant arrhythmias leading to sudden cardiac death (SCD). Approximately 54% of sudden, unexpected deaths in individuals under the age of 35 do not exhibit signs of structural heart disease during autopsy, suggesting the potential significance of channelopathies in this group of age. Channelopathies constitute a highly heterogenous group comprising various diseases such as long QT syndrome (LQTS), short QT syndrome (SQTS), idiopathic ventricular fibrillation (IVF), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and early repolarization syndromes (ERS). Although new advances in the diagnostic process of channelopathies have been made, the link between a disease and sudden cardiac death remains not fully explained. Evolving data in electrophysiology and genetic testing suggest previously described diseases as complex with multiple underlying genes and a high variety of factors associated with SCD in channelopathies. This review summarizes available, well-established information about channelopathy pathogenesis, genetic basics, and molecular aspects relative to principles of the pathophysiology of arrhythmia. In addition, general information about diagnostic approaches and management is presented. Analyzing principles of channelopathies and their underlying causes improves the understanding of genetic and molecular basics that may assist general research and improve SCD prevention. Full article
(This article belongs to the Special Issue Genetic Basis and Molecular Mechanisms of Heart Rhythm Disorders)
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25 pages, 809 KiB  
Review
Cardiomyopathies: An Overview
by Tiziana Ciarambino, Giovanni Menna, Gennaro Sansone and Mauro Giordano
Int. J. Mol. Sci. 2021, 22(14), 7722; https://doi.org/10.3390/ijms22147722 - 19 Jul 2021
Cited by 81 | Viewed by 12386
Abstract
Background: Cardiomyopathies are a heterogeneous group of pathologies characterized by structural and functional alterations of the heart. Aims: The purpose of this narrative review is to focus on the most important cardiomyopathies and their epidemiology, diagnosis, and management. Methods: Clinical trials were identified [...] Read more.
Background: Cardiomyopathies are a heterogeneous group of pathologies characterized by structural and functional alterations of the heart. Aims: The purpose of this narrative review is to focus on the most important cardiomyopathies and their epidemiology, diagnosis, and management. Methods: Clinical trials were identified by Pubmed until 30 March 2021. The search keywords were “cardiomyopathies, sudden cardiac arrest, dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy, arrhythmogenic cardiomyopathy (ARCV), takotsubo syndrome”. Results: Hypertrophic cardiomyopathy (HCM) is the most common primary cardiomyopathy, with a prevalence of 1:500 persons. Dilated cardiomyopathy (DCM) has a prevalence of 1:2500 and is the leading indication for heart transplantation. Restrictive cardiomyopathy (RCM) is the least common of the major cardiomyopathies, representing 2% to 5% of cases. Arrhythmogenic cardiomyopathy (ARCV) is a pathology characterized by the substitution of the myocardium by fibrofatty tissue. Takotsubo cardiomyopathy is defined as an abrupt onset of left ventricular dysfunction in response to severe emotional or physiologic stress. Conclusion: In particular, it has been reported that HCM is the most important cause of sudden death on the athletic field in the United States. It is needless to say how important it is to know which changes in the heart due to physical activity are normal, and when they are pathological. Full article
(This article belongs to the Special Issue Genetic Basis and Molecular Mechanisms of Heart Rhythm Disorders)
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8 pages, 1410 KiB  
Review
JDP2, a Novel Molecular Key in Heart Failure and Atrial Fibrillation?
by Gerhild Euler, Jens Kockskämper, Rainer Schulz and Mariana S. Parahuleva
Int. J. Mol. Sci. 2021, 22(8), 4110; https://doi.org/10.3390/ijms22084110 - 16 Apr 2021
Cited by 1 | Viewed by 2616
Abstract
Heart failure (HF) and atrial fibrillation (AF) are two major life-threatening diseases worldwide. Causes and mechanisms are incompletely understood, yet current therapies are unable to stop disease progression. In this review, we focus on the contribution of the transcriptional modulator, Jun dimerization protein [...] Read more.
Heart failure (HF) and atrial fibrillation (AF) are two major life-threatening diseases worldwide. Causes and mechanisms are incompletely understood, yet current therapies are unable to stop disease progression. In this review, we focus on the contribution of the transcriptional modulator, Jun dimerization protein 2 (JDP2), and on HF and AF development. In recent years, JDP2 has been identified as a potential prognostic marker for HF development after myocardial infarction. This close correlation to the disease development suggests that JDP2 may be involved in initiation and progression of HF as well as in cardiac dysfunction. Although no studies have been done in humans yet, studies on genetically modified mice impressively show involvement of JDP2 in HF and AF, making it an interesting therapeutic target. Full article
(This article belongs to the Special Issue Genetic Basis and Molecular Mechanisms of Heart Rhythm Disorders)
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