SUDS
MCID: BRG001
MIFTS: 56

Brugada Syndrome (SUDS) malady

Summaries for Brugada Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Brugada syndrome causes a disruption of the heart's normal rhythm. signs and symptoms usually develop in adulthood and include ventricular arrhythmia that can cause fainting, seizures, difficulty breathing, or sudden death. these complications typically occur when an affected person is resting or asleep. the underlying cause of brugada syndrome can not always be identified. in some cases it is due to mutations in the scn5a gene. other cases are not genetic (are not due to a gene mutation), but acquired due to adverse reactions to drugs or associated with very low or high levels of potassium, or high levels of calcium. last updated: 5/26/2011

MalaCards: Brugada Syndrome, also known as sudden unexpected nocturnal death syndrome, is related to long qt syndrome and right bundle branch block. An important gene associated with Brugada Syndrome is SCN1B (sodium channel, voltage-gated, type I, beta subunit), and among its related pathways are Synaptic transmission: ion currents and Transmission across Chemical Synapses. The compounds Magnesium Sulfate and flecainide have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and eye, and related mouse phenotype cardiovascular system.

Disease Ontology:8 A heart conduction disease that is characterised by abnormal electrocardiogram (ecg) findings and an increased risk of sudden cardiac death.

Genetics Home Reference:21 Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically, this disorder can lead to uncoordinated electrical activity in the heart's lower chambers (ventricles), an abnormality called ventricular arrhythmia. If untreated, the irregular heartbeats can cause fainting (syncope), seizures, difficulty breathing, or sudden death. These complications typically occur when an affected person is resting or asleep.

Wikipedia:63 The Brugada syndrome is a genetic disease that is characterised by abnormal electrocardiogram (ECG)... more...

Description from OMIM:46 612838, 611777, 601144, 613119, 611875 613123, 613120, 611876 more

GeneReviews summary for brugada

Aliases & Classifications for Brugada Syndrome

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 46OMIM, 34MeSH
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Aliases & Descriptions:

brugada syndrome 8 19 42 20 22 21 10 44 60
sudden unexpected nocturnal death syndrome 19 42 21 60
right bundle branch block, st segment elevation, and sudden death syndrome 42
sudden unexplained death syndrome 21
suds 21


External Ids:

Disease Ontology8 DOID:0050451
MeSH34 D053840

Related Diseases for Brugada Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Brugada Syndrome 1 family:

brugada syndrome Brugada Syndrome 3
Brugada Syndrome 4 Brugada Syndrome 5
Brugada Syndrome 6 Brugada Syndrome 7
Brugada Syndrome 2 Scn5a-Related Brugada Syndrome
Brugada Syndrome 8

Diseases related to Brugada Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1long qt syndrome30.9SCN4B, SCN5A, CACNA1C, KCNE1L, KCNE2, KCNE3
2right bundle branch block30.8SCN5A
3brugada syndrome 330.6CACNA1C
4brugada syndrome 230.6GPD1L
5sick sinus syndrome30.5HCN4, SCN5A
6epilepsy syndrome30.4SCN2B, KCNH2
7sudden cardiac death multi-gene panels29.9KCNE1, KCNH2, SCN5A
8brugada syndrome 410.4
9brugada syndrome 110.4
10brugada syndrome 510.4
11brugada syndrome 610.4
12brugada syndrome 710.4
13brugada syndrome 810.4
14wolff-parkinson-white syndrome10.3
15hypokalemia10.3
16short qt syndrome10.2
17catecholaminergic polymorphic ventricular tachycardia10.2
18arrhythmogenic right ventricular dysplasia10.1
19adult syndrome10.1
20ischemia10.1
21sleep disorder10.1
22image syndrome10.1
23scn5a-related brugada syndrome10.1
24liver disease10.0
25diabetic ketoacidosis10.0
26cellulitis10.0
27cerebritis10.0
28arts syndrome10.0
29dyspepsia10.0
30pemphigus10.0
31conduct disorder10.0
32neuronitis10.0
33chronic myeloid leukemia10.0
34hypercalcemia10.0
35n syndrome10.0
36shigellosis10.0
37autonomic neuropathy10.0
38cholangiocarcinoma10.0
39influenza10.0
40leukemia10.0
41myeloid leukemia10.0
42myotonic dystrophy10.0
43neuropathy10.0
44pericarditis10.0
45pneumonia10.0
46spinocerebellar ataxia10.0
47myotonic dystrophy type 110.0
48sick sinus syndrome 210.0HCN4
49sudden infant death syndrome10.0KCNJ8, SCN5A, GPD1L
50familial atrial fibrillation10.0SCN5A, KCNE2

Graphical network of the top 20 diseases related to Brugada Syndrome:



Diseases related to brugada syndrome

Clinical Features for Brugada Syndrome

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46OMIM
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Clinical features from OMIM:

612838,611777,601144,613119,611875,613123,613120,611876

Drugs & Therapeutics for Brugada Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Brugada Syndrome

Drug clinical trials:

Search ClinicalTrials for Brugada Syndrome

Search NIH Clinical Center for Brugada Syndrome

Search CenterWatch for Brugada Syndrome

Genetic Tests for Brugada Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Brugada Syndrome:

id Genetic test Affiliating Genes
1 Brugada Syndrome Multi-Gene Panels20
2 Brugada Syndrome20 22 SCN5A

Anatomical Context for Brugada Syndrome

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32MalaCards
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MalaCards organs/tissues related to Brugada Syndrome:

32
Heart, Testes, Eye, Brain, Myeloid

Animal Models for Brugada Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Brugada Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.1HCN4, SCN3B, SCN5A, CACNB2, CACNA1C, KCNH2

Publications for Brugada Syndrome

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50PubMed
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Articles related to Brugada Syndrome:

(show top 50)    (show all 605)
idTitleAuthorsYear
1
Risk of sudden death in asymptomatic Brugada syndrome: not as high as we thought and not as low as we wisheda8 (21029875)
but the cont
2
Role of mutations in L-type calcium channel genes in Brugada syndrome, early repolarization syndrome, and idiopathic ventricular fibrillation associated with right bundle branch block. (23739544)
2013
3
Very prolonged episode of self-terminating ventricular fibrillation in a patient with Brugada syndrome. (24267814)
2013
4
Sugammadex and general anaesthesia in a patient with Brugada syndrome. (23659415)
2013
5
Brugada syndrome in the elderly. (23209262)
2013
6
p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient. (23085483)
2013
7
Outcome after implantable cardioverter-defibrillator in patients with Brugada syndrome: the Gulf Brugada syndrome registry. (22074744)
2012
8
Distinguishing pathogenic mutations from innocuous rare variants in gene discovery for Brugada syndrome. (22336521)
2012
9
SCN1Bb R214Q found in 3 patients: 1 with Brugada syndrome and 2 with lone atrial fibrillation. (22155598)
2012
10
Unusual substrate underlying Brugada syndrome and early repolarization syndrome revealed in unusual circadian and seasonal patterns. (22487225)
2012
11
Caesarean section for twin pregnancy in a parturient with Brugada syndrome. (21183334)
2011
12
Familial Brugada syndrome uncovered by hyperkalaemic diabetic ketoacidosis. (21576130)
2011
13
Autonomic dysfunction in patients with Brugada syndrome: further biochemical evidence of altered signaling pathways. (21605134)
2011
14
Automatic continuous ECG monitoring system for over-drug detection in Brugada Syndrome. (22256179)
2011
15
Local conduction block of the atria by premature stimulus in a patient with Brugada syndrome. (19698955)
2010
16
Brugada syndrome revealed by vertigo caused by cerebellar infarction. (20298423)
2010
17
The SCN5A gene in Brugada syndrome: mutations, variants, missense and nonsense. What's a clinician to do? (20129285)
2010
18
Prevention of inappropriate ICD shocks in patients with Brugada syndrome. (19760052)
2010
19
Sudden cause of cardiac death-be aware of me: a case report and short review on brugada syndrome. (21209740)
2010
20
Conduction delay in right ventricle as a marker for identifying high-risk patients with Brugada syndrome. (20050961)
2010
21
Spontaneous fluctuations between diagnostic and nondiagnostic ECGs in Brugada syndrome screening: Portuguese family with Brugada syndrome. (20946556)
2010
22
A Novel SCN5A Mutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease. (19829766)
2009
23
Brugada-like changes in the peripheral leads during diagnostic ajmaline test in patients with suspected Brugada syndrome. (19545329)
2009
24
Remote implantable cardioverter defibrillator monitoring in a Brugada syndrome population. (19218576)
2009
25
Cardiac metabolic state and Brugada syndrome: a link revealed. (19815826)
2009
26
Ventricular fibrillation induced by a narrow QRS complex tachycardia in a patient with Brugada syndrome. (18631271)
2009
27
Absence of pathognomonic or inflammatory patterns in cardiac biopsies from patients with Brugada syndrome. (19808440)
2009
28
Epsilon-like electrocardiographic pattern in a patient with Brugada syndrome. (19614644)
2009
29
A case of Brugada syndrome in which diurnal ECG changes were associated with circadian rhythms of sex hormones. (19809215)
2009
30
Channelopathies: Brugada syndrome, long QT syndrome, short QT syndrome, and CPVT. (19575158)
2009
31
Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome. (19358333)
2009
32
Brugada syndrome or Brugada electrocardiogram? (19389571)
2009
33
Electrical storm in Brugada syndrome successfully treated with orciprenaline; effect of low-dose quinidine on the electrocardiogram. (19346290)
2009
34
Search of phenotype related candidate genes using gene ontology-based semantic similarity and protein interaction information: application to Brugada syndrome. (19963939)
2009
35
Therapeutic hypothermia after out-of-hospital cardiac arrest due to Brugada syndrome. (18620795)
2008
36
Brugada syndrome and Brugada-type electrocardiogram. (18438088)
2008
37
Detection of gene mutations of SCN5A in 7 patients with Brugada syndrome]. (19100032)
2008
38
Lidocaine-induced Brugada syndrome phenotype linked to a novel double mutation in the cardiac sodium channel. (18599870)
2008
39
Prevalence of early repolarization pattern in inferolateral leads in patients with Brugada syndrome. (19084806)
2008
40
Gene symbol: SCN5A. Disease: Brugada syndrome. (20960617)
2008
41
Longer repolarization in the epicardium at the right ventricular outflow tract causes type 1 electrocardiogram in patients with Brugada syndrome. (18355652)
2008
42
Brugada syndrome manifested by the typical electrocardiographic pattern both in the right precordial and the high lateral leads. (18379659)
2008
43
Homozygous SCN5A mutation in Brugada syndrome with monomorphic ventricular tachycardia and structural heart abnormalities. (17442746)
2007
44
Genetic analysis of Brugada syndrome in Western Japan: two novel mutations. (15277732)
2004
45
Wolff-Parkinson-White syndrome concomitant with asymptomatic Brugada syndrome. (14720166)
2004
46
Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome. (15338453)
2004
47
Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. (12106943)
2002
48
Long QT syndrome and Brugada syndrome: 2 aspects of the same disease?]. (11307783)
2001
49
The syndrome of right bundle branch block ST segment elevation in V1 to V3 and sudden death--the Brugada syndrome. (11225790)
1999
50
Right bundle branch block, intermittent ST segment elevation and inducible ventricular tachycardia in an asymptomatic patient: an unusual presentation of the Brugada syndrome? (9773315)
1998

Genetic Variations for Brugada Syndrome

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Expression for genes affiliated with Brugada Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Brugada Syndrome

Search GEO for disease gene expression data for Brugada Syndrome.

Pathways for genes affiliated with Brugada Syndrome

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12EMD Millipore, 53Reactome, 51QIAGEN, 37NCBI BioSystems Database, 49PharmGKB
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Compounds for genes affiliated with Brugada Syndrome

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11DrugBank, 44Novoseek, 49PharmGKB, 28IUPHAR, 24HMDB, 59Tocris Bioscience
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Compounds related to Brugada Syndrome according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1Magnesium Sulfate1110.4CACNB2, CACNA1C
2flecainide44 49 28 1113.4KCNH2, SCN5A
3ibutilide44 1111.4KCNH2, CACNA1C
4mexiletine44 1111.4KCNH2, SCN5A
5propafenone44 49 28 1113.4KCNH2, SCN5A
6nisoldipine44 28 1112.4CACNB2, CACNA1C
7nilvadipine44 1111.3CACNA1C, CACNB2
8Dronedarone1110.3KCNH2, CACNA1C, CACNB2
9nitrendipine44 49 28 1113.3CACNB2, CACNA1C, KCNH2
10isradipine44 28 1112.3CACNA1C, CACNB2
11nimodipine44 28 1112.2CACNB2, CACNA1C
12mibefradil44 28 1112.2CACNB2, CACNA1C
13cisapride44 28 1112.2KCNH2, SCN5A
14verapamil44 49 28 11 2414.1KCNH2, CACNA1C, CACNB2, SCN5A
15xe 991 dihydrochloride5910.1KCNE1, KCNH2, KCNE3, KCNE2
16e-4031 dihydrochloride5910.0KCNE2, KCNE3, KCNH2, KCNE1
17atenolol44 28 49 11 2414.0KCNH2, CACNA1C
18jnj 3035910.0KCNE2, KCNE3, KCNH2, KCNE1
19shk-dap225910.0KCNE2, KCNE3, KCNH2, KCNE1
20ica 1103815910.0KCNE2, KCNE3, KCNH2, KCNE1
21tetrodotoxin citrate5910.0SCN5A, SCN1B, SCN4B, SCN2B, SCN3B
22qx 314 chloride5910.0SCN3B, SCN2B, SCN4B, SCN1B, SCN5A
23phrixotoxin 35910.0SCN5A, SCN1B, SCN4B, SCN2B, SCN3B
24veratridine44 59 2811.9SCN5A, SCN1B, SCN4B, SCN2B, SCN3B
25zonisamide44 1110.9SCN5A, SCN1B, SCN4B, SCN2B, SCN3B
26tetrodotoxin44 59 2811.9SCN5A, SCN1B, SCN4B, SCN2B, SCN3B
27felodipine44 28 1111.9CACNB2, CACNA1C
28potassium44 11 2411.4KCNJ8, KCNE1, KCNH2, KCNE3, KCNE2, SCN5A
29sodium44 2410.0HCN4, KCNE1, KCNH2, KCNE2, SCN5A, SCN1B

GO Terms for genes affiliated with Brugada Syndrome

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16Gene Ontology
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Cellular components related to Brugada Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycerol-3-phosphate dehydrogenase complexGO:00933110.2GPD1L, GPD1
2node of RanvierGO:03326810.2ANK3, SCN1B
3T-tubuleGO:03031510.1ANK3, SCN1B, SCN5A
4sarcolemmaGO:0423839.9KCNJ8, CACNB2, SCN5A, ANK3
5voltage-gated sodium channel complexGO:0015189.8SCN3B, SCN2B, SCN4B, SCN1B, SCN5A
6intercalated discGO:0147049.8SCN5A, SCN1B, SCN4B, ANK3, RANGRF
7voltage-gated potassium channel complexGO:0080769.6KCNJ8, KCNE1, KCNH2, KCNE2, KCNE1L
8Z discGO:0300189.6KCNE1, CACNA1C, SCN3B
9cell surfaceGO:0099869.5KCNE1, KCNH2, KCNE2, SCN5A, ANK3
10plasma membraneGO:0058868.4KCNJ8, KCNE1, KCNH2, KCNE2, CACNA1C, SCN5A

Biological processes related to Brugada Syndrome according to GeneCards/GeneDecks:

(show all 38)
idNameGO IDScoreTop Affiliating Genes
1SA node cell to atrial cardiac muscle cell communicationGO:08607010.5SCN3B, SCN5A
2glycerol-3-phosphate catabolic processGO:04616810.4GPD1, GPD1L
3positive regulation of protein localization to cell surfaceGO:200001010.4GPD1L, RANGRF
4regulation of ventricular cardiac muscle cell membrane depolarizationGO:06037310.4SCN5A, SCN3B, GPD1L
5membrane depolarizationGO:05189910.4SCN3B, SCN1B, SCN5A
6negative regulation of potassium ion transmembrane transportGO:190138010.4KCNH2, KCNE1L
7membrane depolarization involved in regulation of action potentialGO:08601010.4SCN3B, SCN5A, KCNH2
8response to pyrethroidGO:04668410.3SCN1B, SCN2B
9regulation of delayed rectifier potassium channel activityGO:190225910.3KCNE2, KCNE1
10regulation of heart rateGO:00202710.3SCN5A, GPD1L, RANGRF
11AV node cell to bundle of His cell communicationGO:08606710.3SCN5A, SCN4B
12regulation of atrial cardiac muscle cell membrane repolarizationGO:06037210.3KCNE1L, SCN5A
13regulation of potassium ion transportGO:04326610.3ANK3, KCNE3
14membrane repolarizationGO:08600910.3KCNE1, KCNE2
15regulation of membrane repolarizationGO:06030610.3KCNE1L, KCNE2, KCNH2
16membrane repolarization involved in regulation of cardiac muscle cell action potentialGO:08601310.2KCNE1, KCNH2
17positive regulation of potassium ion transmembrane transportGO:190138110.2KCNE1L, KCNH2, KCNE1
18regulation of atrial cardiac muscle cell membrane depolarizationGO:06037110.2SCN5A, SCN1B, SCN2B, SCN3B
19membrane repolarization involved in regulation of action potentialGO:08601110.2KCNE1, KCNH2, KCNE2
20regulation of sodium ion transmembrane transportGO:190230510.2RANGRF, SCN5A
21membrane depolarization involved in regulation of cardiac muscle cell action potentialGO:08601210.2SCN5A, SCN1B, SCN4B, SCN3B
22regulation of atrial cardiac muscle cell action potentialGO:08601410.1SCN3B, KCNE1L
23regulation of potassium ion transmembrane transportGO:190137910.1KCNE1, KCNH2, KCNE2, KCNE1L
24potassium ion exportGO:07143510.0KCNE1, KCNH2, KCNE2, KCNE1L
25axon guidanceGO:00741110.0CACNA1C, CACNB2, SCN1B, SCN3B, ANK3
26sodium ion transmembrane transportGO:03572510.0SCN5A, SCN1B, SCN4B, SCN2B, SCN3B
27potassium ion importGO:0101079.9KCNE2, KCNJ8
28regulation of membrane potentialGO:0423919.9KCNH2, HCN4, RANGRF
29potassium ion transmembrane transportGO:0718059.9HCN4, KCNE1L, KCNE2, KCNH2, KCNE1
30positive regulation of sodium ion transportGO:0107659.9SCN5A, SCN1B, SCN4B, SCN3B, ANK3, GPD1L
31regulation of sodium ion transmembrane transporter activityGO:20006499.8RANGRF, GPD1L, SCN3B, SCN2B, SCN4B, SCN1B
32regulation of ventricular cardiac muscle cell action potentialGO:0860059.7GPD1L, SCN3B, SCN5A, KCNE1L, KCNE2, KCNH2
33synaptic transmissionGO:0072689.6KCNJ8, KCNH2, CACNA1C, CACNB2, SCN1B, SCN2B
34cardiac muscle contractionGO:0600489.6KCNH2, KCNE1L, SCN5A, SCN1B, SCN4B, SCN2B
35sodium ion transportGO:0068149.6SCN3B, SCN4B, SCN5A
36regulation of cardiac muscle cell action potential involved in contractionGO:0860029.6SCN5A, KCNE2, KCNE1, SCN1B, SCN4B, SCN2B
37regulation of ventricular cardiac muscle cell membrane repolarizationGO:0603079.5SCN4B, KCNE1, KCNH2, KCNE2, KCNE1L, SCN5A
38regulation of heart rate by cardiac conductionGO:0860919.2SCN3B, SCN2B, SCN4B, SCN1B, SCN5A, KCNE1L

Molecular functions related to Brugada Syndrome according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1high voltage-gated calcium channel activityGO:00833110.2CACNB2, CACNA1C
2glycerol-3-phosphate dehydrogenase [NAD+] activityGO:00436710.1GPD1, GPD1L
3voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarizationGO:190228210.0KCNE2, KCNH2, KCNE1
4voltage-gated sodium channel activityGO:00524810.0SCN5A, SCN1B, SCN4B, SCN3B
5inward rectifier potassium channel activityGO:0052429.9KCNE2, KCNH2, KCNJ8
6voltage-gated sodium channel activity involved in regulation of cardiac muscle cell action potentialGO:0860069.8SCN5A, SCN1B, SCN4B, SCN2B, SCN3B
7potassium channel regulator activityGO:0154599.8KCNE1, KCNE3, KCNE2, KCNE1L
8delayed rectifier potassium channel activityGO:0052519.8KCNE1, KCNH2, KCNE2
9voltage-gated potassium channel activityGO:0052499.8KCNE1, KCNH2, KCNE3, KCNE1L, HCN4
10voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarizationGO:0860089.7KCNE1L, KCNE1
11sodium channel regulator activityGO:0170809.6SCN1B, SCN4B, SCN2B, SCN3B, GPD1L, RANGRF
12ion channel bindingGO:0443259.3RANGRF, KCNE2, KCNE1L, SCN5A, SCN4B, SCN3B

Products for genes affiliated with Brugada Syndrome

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Sources for Brugada Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
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47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
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