Current Controversies and Challenges in Brugada Syndrome

Snir, A.; Raju, Hariharan

doi:10.15420/ecr.2019.12.2

Cited by 12 publications

(24 citation statements)

References 72 publications

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“…Also, according to Snir et al a regular ECG finding does not rule out the existence of Brugada syndrome, because many patients have an intermittent Brugada syndrome ECG pattern ( 61 ).…”

Section: Discussionmentioning

confidence: 99%

Sudden Cardiac Death—A New Insight Into Potentially Fatal Genetic Markers

Primorac

Odak

Perić³

et al. 2021

Front. Med.

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Sudden cardiac death (SCD) is an unexpected and dramatic event. It draws special attention especially in young, seemingly healthy athletes. Our scientific paper is based on the death of a young, 23-year-old professional footballer, who died on the football field after a two-year history of cardiac symptoms. In this study we analyzed clinical, ECG and laboratory data, as well as results of genetic testing analysis in family members. To elucidate potential genetic etiology of SCD in this family, our analysis included 294 genes related to various cardiac conditions.

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“…Also, according to Snir et al a regular ECG finding does not rule out the existence of Brugada syndrome, because many patients have an intermittent Brugada syndrome ECG pattern ( 61 ).…”

Section: Discussionmentioning

confidence: 99%

Sudden Cardiac Death—A New Insight Into Potentially Fatal Genetic Markers

Primorac

Odak

Perić³

et al. 2021

Front. Med.

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“…CPVT is mainly caused by mutations in the RYR2 gene, but a causative role of RYR2 for ACM remains to be clarified (21). Similarly, the link between ACM and BrS, mainly caused by mutations in the SCN5A gene, is still controversial (22,23). Guidelines for a proper ACM diagnosis recommend genetic testing (see Taskforce Criteria) (24).…”

Section: Genetics Of Acmmentioning

confidence: 99%

Inflammation in the Pathogenesis of Arrhythmogenic Cardiomyopathy: Secondary Event or Active Driver?

Meraviglia

Alcalde

Campuzano

et al. 2021

Front. Cardiovasc. Med.

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Arrhythmogenic cardiomyopathy (ACM) is a rare inherited cardiac disease characterized by arrhythmia and progressive fibro-fatty replacement of the myocardium, which leads to heart failure and sudden cardiac death. Inflammation contributes to disease progression, and it is characterized by inflammatory cell infiltrates in the damaged myocardium and inflammatory mediators in the blood of ACM patients. However, the molecular basis of inflammatory process in ACM remains under investigated and it is unclear whether inflammation is a primary event leading to arrhythmia and myocardial damage or it is a secondary response triggered by cardiomyocyte death. Here, we provide an overview of the proposed players and triggers involved in inflammation in ACM, focusing on those studied using in vivo and in vitro models. Deepening current knowledge of inflammation-related mechanisms in ACM could help identifying novel therapeutic perspectives, such as anti-inflammatory therapy.

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“…Since its first description in 1992 [ 53 ], the genetics of BrS has been elusive in the majority of cases. This syndrome was initially considered as a Mendelian disease with an autosomal dominant inheritance mechanism and incomplete penetrance, with SCN5A as a pivotal gene involved in 15-30% of BrS cases [ 54 – 56 ]. Conversely, recent evidences suggest that the phenotypic expression of BrS could be the result of a cumulative effect of common genetic variations, which pleads in favor of an oligo- or polygenic model for this disease [ 57 ].…”

Section: Inherited Cardiac Disorders Of Trpm4 Channelsmentioning

confidence: 99%

“…For more in-depth overview of pathophysiological mechanisms of Brugada syndrome, these detailed reviews are worthy of note [ 54 – 56 , 68 ].…”

Section: Inherited Cardiac Disorders Of Trpm4 Channelsmentioning

confidence: 99%

Inherited Cardiac Arrhythmia Syndromes: Focus on Molecular Mechanisms Underlying TRPM4 Channelopathies

Amarouch

El-Hilaly

2020

Cardiovascular Therapeutics

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The Transient Receptor Potential Melastatin 4 (TRPM4) is a transmembrane N-glycosylated ion channel that belongs to the large family of TRP proteins. It has an equal permeability to Na+ and K+ and is activated via an increase of the intracellular calcium concentration and membrane depolarization. Due to its wide distribution, TRPM4 dysfunction has been linked with several pathophysiological processes, including inherited cardiac arrhythmias. Many pathogenic variants of the TRPM4 gene have been identified in patients with different forms of cardiac disorders such as conduction defects, Brugada syndrome, and congenital long QT syndrome. At the cellular level, these variants induce either gain- or loss-of-function of TRPM4 channels for similar clinical phenotypes. However, the molecular mechanisms associating these functional alterations to the clinical phenotypes remain poorly understood. The main objective of this article is to review the major cardiac TRPM4 channelopathies and recent advances regarding their genetic background and the underlying molecular mechanisms.

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Current Controversies and Challenges in Brugada Syndrome

Cited by 12 publications

References 72 publications

Sudden Cardiac Death—A New Insight Into Potentially Fatal Genetic Markers

Sudden Cardiac Death—A New Insight Into Potentially Fatal Genetic Markers

Inflammation in the Pathogenesis of Arrhythmogenic Cardiomyopathy: Secondary Event or Active Driver?

Inherited Cardiac Arrhythmia Syndromes: Focus on Molecular Mechanisms Underlying TRPM4 Channelopathies

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