Transcriptional and Epigenetic Regulation of Cardiac Electrophysiology

Jiménez, Jesús

doi:10.1007/s00246-019-02160-w

Cited by 13 publications

(9 citation statements)

References 33 publications

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“…The main channels providing the transient outward potassium current (I to ) in human and dog ventricular muscle are K v 4.3 and K v 4.2 pore-forming a-subunits coassembled with KChIP2 and DPP auxiliary subunits (85) encoded by KCND3, KCND2, and KCNIP2 and DPP6/10 genes, respectively (132)(133)(134). K v 1.4 a channel subunits (encoded by KCNA4) are also expressed with marked regional and interspecies dependence, making up $10-20% of I to density in humans (135,136).…”

Section: The Transient Outward Currentmentioning

confidence: 99%

Cardiac transmembrane ion channels and action potentials: cellular physiology and arrhythmogenic behavior

Varró

Tomek

Nagy

et al. 2021

Physiological Reviews

130

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Cardiac arrhythmias are among the leading causes of mortality. They often arise from alterations in the electrophysiological properties of cardiac cells, and their underlying ionic mechanisms. It is therefore critical to further unravel the patho-physiology of the ionic basis of human cardiac electrophysiology in health and disease. In the first part of this review, current knowledge on the differences in ion channel expression and properties of the ionic processes that determine the morphology and properties of cardiac action potentials and calcium dynamics from cardiomyocytes in different regions of the heart are described. Then the cellular mechanisms promoting arrhythmias in congenital or acquired conditions of ion channel function (electrical remodelling) are discussed. The focus is human relevant findings obtained with clinical, experimental and computational studies, given that interspecies differences make the extrapolation from animal experiments to the human clinical settings difficult. Deepening the understanding of the diverse patholophysiology of human cellular electrophysiology will help developing novel and effective antiarrhythmic strategies for specific subpopulations and disease conditions.

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Section: The Transient Outward Currentmentioning

confidence: 99%

Cardiac transmembrane ion channels and action potentials: cellular physiology and arrhythmogenic behavior

Varró

Tomek

Nagy

et al. 2021

Physiological Reviews

130

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“…Epigenetics of ERS and BrS is not very well studied. However, histone modi cation has been linked to dysregulation of repolarizing K + currents (I K1 , I to , I Kr , I Ks ) and depolarizing Ca 2+ currents (I Ca−L ) in heart failure [17,18]. Identi cation of the separate histone and DNA methylation pro les in BrS and ERS would likely help uncover further distinctions between the electrophysiological mechanisms of these two syndromes.…”

Section: Discussionmentioning

confidence: 99%

Electrocardiographic Features in SCN5A Mutation-Positive Patients with Brugada and Early Repolarization Syndromes: A Systematic Review and Meta-Analysis

Radford

Chou

Bazoukis

et al. 2022

Preprint

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Background: Early repolarization syndrome (ERS) and Brugada syndrome (BrS) are both J-wave syndromes. Both can involve mutations in the SCN5A gene but may exhibit distinct electrocardiographic (ECG) differences. The aim of this systematic review and meta-analysis is to investigate possible differences in ECG markers between SCN5A positive patients with ERS and BrS. Methods: PubMed and Embase, were searched from their inception to October 20th, 2021 for human studies containing the search terms “SCN5A” and “variant” and “early reporlarization” or “Brugada”, with no language restrictions. Results: A total of 328 studies were identified. After full text screening, 12 studies met our inclusion criteria and were included in this present study. 104 ERS patients (mean age: 30.86 ±14.45) and 2000 BrS patients (mean age: 36.17 ±11.39) were studied. Our meta-analysis found that ERS patients had a significantly lower heart rate (standardized mean difference [SMD]a= 14.69, 95% confidence interval [CI] = 21.43, 7.94, P = 0.0001), shorter QRS duration (SMD = 13.90, 95% CI = 17.16, 10.65, P = 0.0001) and shorter QTc [corrected QT interval] (SDM = 21.52, 95% CI = 33.77, 9.26, P = 0.0006) than BrS patients. Conclusion: BrS patients with positive SCN5A mutations exhibited prolonged QRS, indicating conduction abnormalities, whereas ERS patients with positive SCN5A mutations showed normal QRS. By contrast, whilst QTc intervals were longer in BrS than in ERS SCN5A positive patients, they were within normal limits. Further studies are needed to examine the implications of these findings for arrhythmic risk stratification.

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“…The role of transcriptional and epigenetic effects on BrS and ARVC substrates during early development and pathological remodeling is noted in a recent publication. 95 …”

Section: Role Of Epigenetics In Ion Channelopathies Disparities and Scdmentioning

confidence: 99%

Racial Disparities in Ion Channelopathies and Inherited Cardiovascular Diseases Associated With Sudden Cardiac Death

Chahine

Fontaine

Boutjdir

2022

JAHA

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Cardiovascular disease (CVD) continues to be the most common cause of death worldwide, and cardiac arrhythmias account for approximately one half of these deaths. The morbidity and mortality from CVD have been reduced significantly over the past few decades; however, disparities in racial or ethnic populations still exist. This review is based on available literature to date and focuses on known cardiac channelopathies and other inherited disorders associated with sudden cardiac death in African American/Black subjects and the role of epigenetics in phenotypic manifestations of CVD, and illustrates existing disparities in treatment and outcomes. The review also highlights the knowledge gaps that limit understanding of the manifestation of phenotypic abnormalities across racial or ethnic groups and discusses disparities associated with device underuse in the management of patients at risk for sudden cardiac death. We discuss factors related to reports in the United States, that the overall mortality attributed to CVD and the number of out‐of‐hospital cardiac arrests are higher among African American/Black subjects when compared with other racial or ethnic groups. African American/Black subjects are disproportionally affected by CVD, including cardiac arrhythmias and sudden cardiac death, thus highlighting a major concern in this population that remains underrepresented in clinical trials with limited genetic testing and device underuse. The proposed solutions include (1) early identification of genetic variants, which is crucial in tailoring a preventive management strategy; (2) inclusion of diverse racial or ethnic groups in clinical trials; (3) compliance with guideline‐directed medical treatment and referral to cardiovascular subspecialists; and (4) training and mentoring of underrepresented junior faculty in cardiovascular health disparities research.

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Transcriptional and Epigenetic Regulation of Cardiac Electrophysiology

Cited by 13 publications

References 33 publications

Cardiac transmembrane ion channels and action potentials: cellular physiology and arrhythmogenic behavior

Cardiac transmembrane ion channels and action potentials: cellular physiology and arrhythmogenic behavior

Electrocardiographic Features in SCN5A Mutation-Positive Patients with Brugada and Early Repolarization Syndromes: A Systematic Review and Meta-Analysis

Racial Disparities in Ion Channelopathies and Inherited Cardiovascular Diseases Associated With Sudden Cardiac Death

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