scholarly journals Structural Heart Disease, SCN5A Gene Mutations, and Brugada Syndrome

Circulation ◽  
2005 ◽  
Vol 112 (24) ◽  
pp. 3672-3674 ◽  
Author(s):  
Jeffrey E. Saffitz
Keyword(s):  
Heart Disease ◽  
Brugada Syndrome ◽  
Gene Mutations ◽  
Structural Heart Disease ◽  
Scn5a Gene

scholarly journals Compound heterozygous SCN5A gene mutations in asymptomatic Brugada syndrome child

2012 ◽  
Vol 2 (1) ◽  
pp. 11 ◽  
Author(s):  
Elena Sommariva ◽  
Matteo Vatta ◽  
Yutao Xi ◽  
Simone Sala ◽  
Tomohiko Ai ◽  
...  
Keyword(s):  
Brugada Syndrome ◽  
Gene Mutations ◽  
Compound Heterozygous ◽  
Scn5a Gene ◽  
Syndrome Child

scholarly journals Epidural Analgesia with Ropivacaine during Labour in a Patient with a SCN5A Gene Mutation

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
A. L. M. J. van der Knijff-van Dortmont ◽  
M. Dirckx ◽  
J. J. Duvekot ◽  
J. W. Roos-Hesselink ◽  
A. Gonzalez Candel ◽  
...  
Keyword(s):  
Case Report ◽  
Adverse Events ◽  
Epidural Analgesia ◽  
Brugada Syndrome ◽  
Low Dose ◽  
Gene Mutations ◽  
Pregnant Patient ◽  
Cardiac Conduction ◽  
Conduction Disturbances ◽  
Scn5a Gene

SCN5A gene mutations can lead to ion channel defects which can cause cardiac conduction disturbances. In the presence of specific ECG characteristics, this mutation is called Brugada syndrome. Many drugs are associated with adverse events, making anesthesia in patients with SCN5A gene mutations or Brugada syndrome challenging. In this case report, we describe a pregnant patient with this mutation who received epidural analgesia using low dose ropivacaine and sufentanil during labour.

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.

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 Genetic Characteristics and Transcriptional Regulation of Sodium Channel Related Genes in Chinese Patients With Brugada Syndrome

2021 ◽  
Vol 8 ◽  
Author(s):  
Ziguan Zhang ◽  
Hongwei Chen ◽  
Wenbo Chen ◽  
Zhenghao Zhang ◽  
Runjing Li ◽  
...  
Keyword(s):  
Transcriptional Regulation ◽  
Brugada Syndrome ◽  
Southern China ◽  
Gene Mutations ◽  
Northern China ◽  
Chinese Patients ◽  
Α Subunit ◽  
Genetic Characteristics ◽  
C Terminus ◽  
Scn5a Gene

Objective: To investigate the genetic characteristics and transcriptional regulation of the SCN5A gene of Brugada syndrome (BrS) patients in China.Methods: Using PubMed, Medline, China National Knowledge Internet (CNKI), and Wanfang Database, Chinese patients with BrS who underwent SCN5A gene testing were studied.Results: A total of 27 suitable studies involving Chinese BrS patients who underwent the SCN5A gene test were included. A total of 55 SCN5A gene mutations/variations were reported in Chinese BrS patients, including 10 from southern China and 45 from northern China. Mutations/variations of BrS patients from southern China mostly occurred in the regions of the α-subunit of Nav1.5, including DIII (Domain III), DIV, DIII-DIV, C-terminus regions, and the 3'UTR region. Furthermore, we analyzed the post-transcriptional modifications (PTMs) throughout the Nav1.5 protein encoded by SCN5A and found that the PTM changes happened in 72.7% of BrS patients from southern China and 26.7% from northern China.Conclusions: SCN5A mutations/variations of BrS patients in southern China mostly occurred in the DIII-DIV to C-terminus region and the 3'-UTR region of the SCN5A gene, different from northern China. PTM changes were consistent with the mutation/variation distribution of SCN5A, which might be involved in the regulation of the pathogenesis of BrS patients.

The Spectrum of SCN5A Gene Mutations in Spanish Brugada Syndrome Patients

2010 ◽  
Vol 63 (7) ◽  
pp. 856-859 ◽  
Author(s):  
Mónica García-Castro ◽  
Cristina García ◽  
Julián R. Reguero ◽  
Ana Miar ◽  
José M. Rubín ◽  
...  
Keyword(s):  
Brugada Syndrome ◽  
Gene Mutations ◽  
Scn5a Gene
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