Brugada Syndrome 1; Brgda1

Description

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 Antzelevitch et al., 2005). Genetic Heterogeneity of Brugada SyndromeBrugada syndrome-2 (OMIM ) is caused by mutation in the GPD1L gene (OMIM ) on chromosome 3p22. Brugada syndrome-3 (OMIM ) and Brugada syndrome-4 (OMIM ), the phenotypes of which include a shortened QT interval on ECG, are caused by mutation in the CACNA1C gene (OMIM ) on chromosome 12p13 and CACNB2 gene (OMIM ) on chromosome 10p12, respectively. Brugada syndrome-5 (OMIM ) is caused by mutation in the SCN1B gene (OMIM ) on chromosome 19q13. Brugada syndrome-6 (OMIM ) is caused by mutation in the KCNE3 gene (OMIM ) on chromosome 11q13. Brugada syndrome-7 (OMIM ) is caused by mutation in the SCN3B gene (OMIM ) on chromosome 11q24. Brugada syndrome-8 (OMIM ) is caused by mutation in the HCN4 gene (OMIM ) on chromosome 15q24. Brugada syndrome-9 (OMIM ) is caused by mutation in the KCND3 gene (OMIM ) on chromosome 1p13.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 (OMIM ) or CACNB2 (OMIM ) 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.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.Hu et al. (2009) analyzed 9 'Brugada susceptibility' genes, including SCN5A, GPD1L (OMIM ), CACNB2, CACNA1C, SCN1B (OMIM ), KCNE2 (OMIM ), KCNE3 (OMIM ), KCNE4 (OMIM ), and IRX5 (OMIM ), as well as the sodium channel beta subunit SCN3B (OMIM ), 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.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 SCN5A-negative Brugada syndrome patients and 91 European controls from the 1000 Genomes Project database, 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 (OMIM ), 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 (OMIM ) (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). Di Resta et al. (2015) noted the possible genetic overlap between different cardiac disorders, suggesting common pathogenetic pathways.

Clinical Features

Top most frequent phenotypes and symptoms related to Brugada Syndrome 1; Brgda1

  • Fever
  • Respiratory distress
  • Arrhythmia
  • Abnormal heart morphology
  • Tachycardia
  • Sudden cardiac death
  • Syncope
  • Cardiac arrest
  • Ventricular tachycardia
  • Ventricular arrhythmia

And another 6 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Brugada Syndrome 1; Brgda1 Is also known as right bundle branch block, st segment elevation, and sudden death syndrome, sudden unexplained nocturnal death syndrome, sunds.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Brugada Syndrome 1; Brgda1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SUCLA2, SYNJ1, SLC4A10, CACNA1A, CACNA1H, CACNB4, PCDH19, SLC25A19, CASR , (...)

View the complete list with 64 more genes
Specificity
3 %
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100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)

View the complete list with 124 more genes
Specificity
2 %
Genes
100 %
Brugada Syndrome Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1B, SCN2B, SCN5A, CACNA1C, CACNB2, SLMAP, HCN4, TRPM4, SCN3B, GPD1L, ABCC9, KCND3, KCNE3, KCNH2, KCNJ8, PKP2
Specificity
13 %
Genes
100 %
Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)

View the complete list with 86 more genes
Specificity
2 %
Genes
100 %
Dilated & Arrhythmogenic Cardiomyopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, ACTC1, CASQ2, LDB3, ACTN2, NEBL , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
50 %
Long QT Syndrome Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR2, SCN4B, SCN5A, SNTA1, TRDN, CACNA1C, CALM1, CALM2, CASQ2, CAV3, AKAP9, ANK2, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1
Specificity
6 %
Genes
50 %
Cardiomyopathy Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR2, SCN1B, SCN4B, SCN5A, SCO2, SGCD, SKI, BRAF, SNTA1, SOS1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3 , (...)

View the complete list with 92 more genes
Specificity
2 %
Genes
100 %

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Sources and references

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OMIM Genetic Syndrome Finder

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