Brugada syndrome: Merely a ion channelopathy, a structural heart disease, or mixed?

Heart Rhythm ◽  
2017 ◽  
Vol 14 (4) ◽  
pp. 590-591 ◽  
Author(s):  
Jyh-Ming Jimmy Juang ◽  
Jiunn-Lee Lin
Keyword(s):  
Heart Disease ◽  
Brugada Syndrome ◽  
Structural Heart Disease

scholarly journals Brugada syndrome: current concepts and genetic background

2021 ◽  
Vol 31 (1) ◽  
pp. 152-176
Author(s):  
Andrés Ricardo Pérez-Riera ◽  
Joseane Elza Tonussi Mendes ◽  
Fabiola Ferreira da Silva ◽  
Frank Yanowitz ◽  
Luiz Carlos de Abreu ◽  
...  
Keyword(s):  
Heart Disease ◽  
Brugada Syndrome ◽  
Connexin 43 ◽  
Large Scale ◽  
Rare Variants ◽  
Right Ventricular Outflow Tract ◽  
Structural Heart Disease ◽  
Sequencing Data ◽  
Increased Risk ◽  
The Right

Brugada syndrome (BrS) is a hereditary clinical-electrocardiographic arrhythmic entity with low worldwide prevalence. The syndrome is caused by changes in the structure and function of certain cardiac ion channels and reduced expression of Connexin 43 (Cx43) in the Right Ventricle (RV), predominantly in the Right Ventricular Outflow Tract (VSVD), causing electromechanical abnormalities. The diagnosis is based on the presence of spontaneous or medicated ST elevation, characterized by boost of the J point and the ST segment ≥2 mm, of superior convexity "hollow type" (subtype 1A) or descending rectilinear model (subtype 1B). BrS is associated with an increased risk of syncope, palpitations, chest pain, convulsions, difficulty in breathing (nocturnal agonal breathing) and/or Sudden Cardiac Death (SCD) secondary to PVT/VF, unexplained cardiac arrest or documented PVT/VF or Paroxysmal atrial fibrillation (AF) in the absence of apparent macroscopic or structural heart disease, electrolyte disturbance, use of certain medications or coronary heart disease and fever. In less than three decades since the discovery of Brugada syndrome, the concept of Mendelian heredity has come undone. The enormous variants and mutations found mean that we are still far from being able to concretely clarify a genotype-phenotype relationship. There is no doubt that the entity is oligogenetic, associated with environmental factors, and that there are variants of uncertain significance, especially the rare variants of the SCN5A mutation, with European or Japanese ancestors, as well as a spontaneous type 1 or induced pattern, thanks to gnomAD (coalition) researchers who seek to aggregate and harmonize exome and genome sequencing data from a variety of large scale sequencing projects and make summary data available to the scientific community at large). Thus, we believe that this in depth analytical study of the countless mutations attributed to BrS may constitute a real cornerstone that will help to better understand this intriguing syndrome.

Electrophysiological study

2019 ◽  
pp. 116-119
Author(s):  
Matthias Antz
Keyword(s):  
Atrial Fibrillation ◽  
Risk Assessment ◽  
Heart Disease ◽  
Ventricular Tachycardia ◽  
Brugada Syndrome ◽  
Electrophysiological Study ◽  
Structural Heart Disease ◽  
Sustained Ventricular Tachycardia ◽  
Ectopic Beats

An electrophysiological (EP) study is performed for diagnostic reasons, for risk assessment, and for therapy of arrhythmias. It can be useful in athletes with palpitations or documented arrhythmias of unclear origin, in non-sustained ventricular tachycardia, structural heart disease, or electrical abnormalities such as the Brugada syndrome, and for treatment of ectopic beats, supraventricular or ventricular tachycardia, and atrial fibrillation.

Identification of High-risk Patients for Implantable Cardioverter–Defibrillator Therapy in Asia

2011 ◽  
Vol 3 (1) ◽  
pp. 77
Author(s):  
Cyril YK Ko ◽  
Jeffrey WH Fung ◽  
◽  
Keyword(s):  
Heart Disease ◽  
Implantable Cardioverter Defibrillator ◽  
Asian Population ◽  
Structural Heart Disease ◽  
Medical Problem ◽  
Western World ◽  
Asian Countries ◽  
Cardioverter Defibrillator ◽  
Asian Patients ◽  
Risk Patients

Sudden cardiac death (SCD) is a serious medical problem worldwide. Multiple landmark studies have demonstrated the benefit of implantable cardioverter–defibrillator (ICD) therapy in preventing SCD in at-risk patients. Although the data available in Asia are limited, the disease pattern seems to be different from that in the western world. The Asian population seems to have a lower incidence of SCD. Coronary heart disease, which is the major underlying cause of SCD in the west, may play a less important role in Asian countries. In addition, non-structural heart disease seems to be a more prevalent cause of SCD in Asia. It is thus questionable whether the results of ICD trials can be applied directly to Asian countries, as most of these trials seldom recruited Asian patients. This article will review SCD in Asia, focusing on the epidemiology and risk factors for SCD in Asia and highlighting some unique features that may be different from those seen in the western world.

Pulmonary Arterial Hypertension In Adults With Congenital Heart Disease: General Overview of Disease Mechanisms

2007 ◽  
Vol 6 (3) ◽  
pp. 121-125 ◽  
Author(s):  
Ingram Schulze-Neick ◽  
John E. Deanfield
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Congenital Heart ◽  
Vascular System ◽  
Hypertensive Crisis ◽  
Multidisciplinary Care ◽  
Structural Heart Disease ◽  
Pulmonary Arterial

Adults with congenital heart disease (CHD) have become a rapidly expanding group of complex patients requiring multidisciplinary care in specialty centers by those trained in CHD. They represent one of the most challenging subgroups of patients with pulmonary arterial hypertension (PAH) due to the presence of structural heart disease with or without coexisting cyanosis and its complications. The primary focus of attention for these patients is the lungs, whose vascular system is affected by shunt flow, or is also congenitally malformed, or has been altered by surgical procedures. When PAH develops, it affects physical exercise tolerance, travel to high altitudes, pregnancy, operability, and anesthesia (myocardial failure due to pulmonary hypertensive crisis), and thus general morbidity and mortality in this special patient group.

scholarly journals Monomorphic Ventricular Arrhythmias in Athletes

2019 ◽  
Vol 8 (2) ◽  
pp. 83-89 ◽  
Author(s):  
Jeffrey J Hsu ◽  
Ali Nsair ◽  
Jamil A Aboulhosn ◽  
Tamara B Horwich ◽  
Ravi H Dave ◽  
...  
Keyword(s):  
Heart Disease ◽  
Ventricular Arrhythmias ◽  
Comprehensive Evaluation ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Sports Participation ◽  
Structural Heart Disease ◽  
Competitive Sports ◽  
Ventricular Cardiomyopathy ◽  
Electrical Heart Disease ◽  
Increase Risk

Ventricular arrhythmias are challenging to manage in athletes with concern for an elevated risk of sudden cardiac death (SCD) during sports competition. Monomorphic ventricular arrhythmias (MMVA), while often benign in athletes with a structurally normal heart, are also associated with a unique subset of idiopathic and malignant substrates that must be clearly defined. A comprehensive evaluation for structural and/or electrical heart disease is required in order to exclude cardiac conditions that increase risk of SCD with exercise, such as hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy. Unique issues for physicians who manage this population include navigating athletes through the decision of whether they can safely continue their chosen sport. In the absence of structural heart disease, therapies such as radiofrequency catheter ablation are very effective for certain arrhythmias and may allow for return to competitive sports participation. In this comprehensive review, we summarise the recommendations for evaluating and managing athletes with MMVA.

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