Brugada syndrome 1

Common Name(s)

Brugada syndrome 1

Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {2:Antzelevitch et al., 2005}). Genetic Heterogeneity of Brugada Syndrome Brugada syndrome-2 ({611777}) is caused by mutation in the GPD1L gene ({611778}) on chromosome 3p22. Brugada syndrome-3 ({611875}) and Brugada syndrome-4 ({611876}), the phenotypes of which include a shortened QT interval on ECG, are caused by mutation in the CACNA1C gene ({114205}) on chromosome 12p13 and CACNB2 gene ({600003}) on chromosome 10p12, respectively. Brugada syndrome-5 ({612838}) is caused by mutation in the SCN1B gene ({600235}) on chromosome 19q13. Brugada syndrome-6 ({613119}) is caused by mutation in the KCNE3 gene ({604433}) on chromosome 11q13. Brugada syndrome-7 ({613120}) is caused by mutation in the SCN3B gene ({608214}) on chromosome 11q24. Brugada syndrome-8 ({613123}) is caused by mutation in the HCN4 gene ({605206}) on chromosome 15q24. Brugada syndrome-9 ({616399}) is caused by mutation in the KCND3 gene ({605411}) on chromosome 1p13. {3:Antzelevitch et al. (2007)} screened 82 consecutive probands with a clinical diagnosis of Brugada syndrome for mutations in 16 ion channel genes. Seven probands were found to have mutations in the CACNA1C ({114205}) or CACNB2 ({600003}) genes, including 3 Brugada probands with shortened QTc intervals (see {611875} and {611876}). Fifteen percent of probands harbored a pathogenic mutation in the SCN5A gene. {11:Delpon et al. (2008)} screened 14 ion channel genes in 105 probands with Brugada syndrome and detected SCN5A mutations in 14.3%, CACNA1C mutations in 6.7%, and CACNB2 mutations in 4.8% of the probands. {17:Hu et al. (2009)} analyzed 9 'Brugada susceptibility' genes, including SCN5A, GPD1L ({611778}), CACNB2, CACNA1C, SCN1B ({600235}), KCNE2 ({603796}), KCNE3 ({604433}), KCNE4 ({607775}), and IRX5 ({606195}), as well as the sodium channel beta subunit SCN3B ({608214}), in 179 probands with Brugada syndrome; they noted that 129 (72.07%) of the probands were negative for mutation in all of the genes tested. {10:Crotti et al. (2012)} analyzed 12 Brugada syndrome susceptibility genes in 129 unrelated patients with possible or probable Brugada syndrome and identified SCN5A mutations in 21 (16.3%) of the patients; only 6 (4.6%) of the patients carried a mutation in 1 of the other 11 genes. In a cohort of 91 SCNA5-negative Brugada syndrome patients and 91 European controls from the 1000 Genomes Project database, {12:Di Resta et al. (2015)} analyzed 158 arrhythmia- and cardiac defect-associated genes. A significant enrichment in Brugada syndrome samples was found only for the DSG2 gene ({125671}), with 6 (6%) of 91 patients having a rare functional variant compared to none of the 91 controls (p = 0.029). In addition, borderline significance was detected for the MYH7 gene ({160760}) (5 patients versus 0 controls; p = 0.059). Analysis of phenotype correlations yielded statistical significance only between the presence of a DSG2 variant and syncope, documented ventricular tachycardia/fibrillation, and/or cardiac arrest (p = 0.034). {12:Di Resta et al. (2015)} noted the possible genetic overlap between different cardiac disorders, suggesting common pathogenetic pathways.
 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Brugada syndrome 1" returned 13 free, full-text research articles on human participants. First 3 results:

Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.
 

Author(s): Jamie D Kapplinger, John R Giudicessi, Dan Ye, David J Tester, Thomas E Callis, Carmen R Valdivia, Jonathan C Makielski, Arthur A Wilde, Michael J Ackerman

Journal: Circ Cardiovasc Genet. 2015 Aug;8(4):582-95.

 

A 2% to 5% background rate of rare SCN5A nonsynonymous single nucleotide variants (nsSNVs) among healthy individuals confounds clinical genetic testing. Therefore, the purpose of this study was to enhance interpretation of SCN5A nsSNVs for clinical genetic testing using estimated ...

Last Updated: 19 Aug 2015

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Deep-inspiration test. A novel and simple technique of unmasking type 1 ECG in Brugada syndrome.
 

Author(s): Satoshi Nagase, Kengo F Kusano

Journal: Circ. J.. 2014 ;78(2):311-2.

 

Last Updated: 27 Jan 2014

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Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1.
 

Author(s): Karim Wahbi, Vincent Algalarrondo, Henri Marc Bécane, Véronique Fressart, Chérif Beldjord, Kamel Azibi, Arnaud Lazarus, Nawal Berber, Hélène Radvanyi-Hoffman, Tanya Stojkovic, Anthony Béhin, Pascal Laforêt, Bruno Eymard, Stéphane Hatem, Denis Duboc

Journal: Arch Cardiovasc Dis. 2013 Dec;106(12):635-43.

 

In patients with myotonic dystrophy type 1 (DM1), the mechanisms underlying sudden cardiac death, which occurs in up to 1/3 of patients, are unclear.

Last Updated: 2 Dec 2013

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The terms "Brugada syndrome 1" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Diagnostic Value and Safety of Flecainide Infusion Test in Brugada Syndrome
 

Status: Recruiting

Condition Summary: Brugada Syndrome; Arrhythmogenic Right Ventricular Cardiomyopathy

 

Last Updated: 8 Mar 2016

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DAPERB 3,4-DiAminoPyridine and Electrophysiological Response in Brugada Syndrome
 

Status: Not yet recruiting

Condition Summary: Brugada Syndrome

 

Last Updated: 1 Jul 2008

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Brugada Syndrome: A New Treatment Approach Driven by Clinical Experience
 

Status: Recruiting

Condition Summary: Brugada Syndrome

 

Last Updated: 28 Dec 2015

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