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Brugada syndrome(SUNDS; BRGDA1)

MedGen UID:
222975
Concept ID:
C1142166
Disease or Syndrome
Synonyms: Sudden unexpected nocturnal death syndrome; Sudden unexplained nocturnal death syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
SNOMED CT: Brugada syndrome (418818005)
 
Related genes: SCN3B, GPD1L, HCN4, KCNE3, SCN5A, SCN1B, CACNB2, CACNA1C
OMIM®: 600163; 601144
OMIM® Phenotypic series: PS601144
Orphanet: ORPHA130

Definition

Brugada syndrome is characterized by cardiac conduction abnormalities (ST-segment abnormalities in leads V1-V3 on ECG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood although age at diagnosis may range from infancy to late adulthood. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS; death of a child during the first year of life without an identifiable cause) and the sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome. [from GTR]

Additional descriptions

From GeneReviews
Brugada syndrome is characterized by cardiac conduction abnormalities (ST-segment abnormalities in leads V1-V3 on ECG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood although age at diagnosis may range from infancy to late adulthood. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS; death of a child during the first year of life without an identifiable cause) and the sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome.  https://www.ncbi.nlm.nih.gov/books/NBK1517
From OMIM
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 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. 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. 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 (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. 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, 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). Di Resta et al. (2015) noted the possible genetic overlap between different cardiac disorders, suggesting common pathogenetic pathways.  http://www.omim.org/entry/601144
From GHR
Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically, this disorder can lead to irregular heartbeats in the heart's lower chambers (ventricles), which is 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.Brugada syndrome usually becomes apparent in adulthood, although it can develop any time throughout life. Signs and symptoms related to arrhythmias, including sudden death, can occur from early infancy to late adulthood. Sudden death typically occurs around age 40. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of death in babies younger than 1 year. SIDS is characterized by sudden and unexplained death, usually during sleep.Sudden unexplained nocturnal death syndrome (SUNDS) is a condition characterized by unexpected cardiac arrest in young adults, usually at night during sleep. This condition was originally described in Southeast Asian populations, where it is a major cause of death. Researchers have determined that SUNDS and Brugada syndrome are the same disorder.  https://ghr.nlm.nih.gov/condition/brugada-syndrome

Clinical features

Cardiac arrest
MedGen UID:
5456
Concept ID:
C0018790
Finding
Cessation of heart beat or MYOCARDIAL CONTRACTION. If it is treated within a few minutes, heart arrest can be reversed in most cases to normal cardiac rhythm and effective circulation.
Ventricular fibrillation
MedGen UID:
21844
Concept ID:
C0042510
Disease or Syndrome
A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC)

Suggested Reading

PubMed

Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, Kannankeril P, Krahn A, Leenhardt A, Moss A, Schwartz PJ, Shimizu W, Tomaselli G, Tracy C; Document Reviewers., Ackerman M, Belhassen B, Estes NA 3rd, Fatkin D, Kalman J, Kaufman E, Kirchhof P, Schulze-Bahr E, Wolpert C, Vohra J, Refaat M, Etheridge SP, Campbell RM, Martin ET, Quek SC; Heart Rhythm Society.; European Heart Rhythm Association.; Asia Pacific Heart Rhythm Society.
Europace 2013 Oct;15(10):1389-406. Epub 2013 Aug 30 doi: 10.1093/europace/eut272. PMID: 23994779

Recent clinical studies

Etiology

Veerman CC, Podliesna S, Tadros R, Lodder EM, Mengarelli I, de Jonge B, Beekman L, Barc J, Wilders R, Wilde AAM, Boukens BJ, Coronel R, Verkerk AO, Remme CA, Bezzina CR
Circ Res 2017 Aug 18;121(5):537-548. Epub 2017 Jun 21 doi: 10.1161/CIRCRESAHA.117.310959. PMID: 28637782
Pappone C, Brugada J, Vicedomini G, Ciconte G, Manguso F, Saviano M, Vitale R, Cuko A, Giannelli L, Calovic Z, Conti M, Pozzi P, Natalizia A, Crisà S, Borrelli V, Brugada R, Sarquella-Brugada G, Guazzi M, Frigiola A, Menicanti L, Santinelli V
Circ Arrhythm Electrophysiol 2017 May;10(5):e005053. doi: 10.1161/CIRCEP.117.005053. PMID: 28500178
Yamagata K, Horie M, Aiba T, Ogawa S, Aizawa Y, Ohe T, Yamagishi M, Makita N, Sakurada H, Tanaka T, Shimizu A, Hagiwara N, Kishi R, Nakano Y, Takagi M, Makiyama T, Ohno S, Fukuda K, Watanabe H, Morita H, Hayashi K, Kusano K, Kamakura S, Yasuda S, Ogawa H, Miyamoto Y, Kapplinger JD, Ackerman MJ, Shimizu W
Circulation 2017 Jun 6;135(23):2255-2270. Epub 2017 Mar 24 doi: 10.1161/CIRCULATIONAHA.117.027983. PMID: 28341781
Gourraud JB, Barc J, Thollet A, Le Marec H, Probst V
Arch Cardiovasc Dis 2017 Mar;110(3):188-195. Epub 2017 Jan 27 doi: 10.1016/j.acvd.2016.09.009. PMID: 28139454
Gonzalez Corcia MC, de Asmundis C, Chierchia GB, Brugada P
Cardiol Young 2016 Aug;26(6):1044-55. Epub 2016 May 6 doi: 10.1017/S1047951116000548. PMID: 27151277

Diagnosis

Pappone C, Brugada J, Vicedomini G, Ciconte G, Manguso F, Saviano M, Vitale R, Cuko A, Giannelli L, Calovic Z, Conti M, Pozzi P, Natalizia A, Crisà S, Borrelli V, Brugada R, Sarquella-Brugada G, Guazzi M, Frigiola A, Menicanti L, Santinelli V
Circ Arrhythm Electrophysiol 2017 May;10(5):e005053. doi: 10.1161/CIRCEP.117.005053. PMID: 28500178
Yamagata K, Horie M, Aiba T, Ogawa S, Aizawa Y, Ohe T, Yamagishi M, Makita N, Sakurada H, Tanaka T, Shimizu A, Hagiwara N, Kishi R, Nakano Y, Takagi M, Makiyama T, Ohno S, Fukuda K, Watanabe H, Morita H, Hayashi K, Kusano K, Kamakura S, Yasuda S, Ogawa H, Miyamoto Y, Kapplinger JD, Ackerman MJ, Shimizu W
Circulation 2017 Jun 6;135(23):2255-2270. Epub 2017 Mar 24 doi: 10.1161/CIRCULATIONAHA.117.027983. PMID: 28341781
Gourraud JB, Barc J, Thollet A, Le Marec H, Probst V
Arch Cardiovasc Dis 2017 Mar;110(3):188-195. Epub 2017 Jan 27 doi: 10.1016/j.acvd.2016.09.009. PMID: 28139454
Gonzalez Corcia MC, de Asmundis C, Chierchia GB, Brugada P
Cardiol Young 2016 Aug;26(6):1044-55. Epub 2016 May 6 doi: 10.1017/S1047951116000548. PMID: 27151277
Brugada P
J Cardiol 2016 Mar;67(3):215-20. Epub 2015 Nov 25 doi: 10.1016/j.jjcc.2015.08.009. PMID: 26627541

Therapy

Pappone C, Brugada J, Vicedomini G, Ciconte G, Manguso F, Saviano M, Vitale R, Cuko A, Giannelli L, Calovic Z, Conti M, Pozzi P, Natalizia A, Crisà S, Borrelli V, Brugada R, Sarquella-Brugada G, Guazzi M, Frigiola A, Menicanti L, Santinelli V
Circ Arrhythm Electrophysiol 2017 May;10(5):e005053. doi: 10.1161/CIRCEP.117.005053. PMID: 28500178
Gourraud JB, Barc J, Thollet A, Le Marec H, Probst V
Arch Cardiovasc Dis 2017 Mar;110(3):188-195. Epub 2017 Jan 27 doi: 10.1016/j.acvd.2016.09.009. PMID: 28139454
Gonzalez Corcia MC, de Asmundis C, Chierchia GB, Brugada P
Cardiol Young 2016 Aug;26(6):1044-55. Epub 2016 May 6 doi: 10.1017/S1047951116000548. PMID: 27151277
Sroubek J, Probst V, Mazzanti A, Delise P, Hevia JC, Ohkubo K, Zorzi A, Champagne J, Kostopoulou A, Yin X, Napolitano C, Milan DJ, Wilde A, Sacher F, Borggrefe M, Ellinor PT, Theodorakis G, Nault I, Corrado D, Watanabe I, Antzelevitch C, Allocca G, Priori SG, Lubitz SA
Circulation 2016 Feb 16;133(7):622-30. Epub 2016 Jan 21 doi: 10.1161/CIRCULATIONAHA.115.017885. PMID: 26797467Free PMC Article
Belhassen B, Rahkovich M, Michowitz Y, Glick A, Viskin S
Circ Arrhythm Electrophysiol 2015 Dec;8(6):1393-402. Epub 2015 Sep 9 doi: 10.1161/CIRCEP.115.003109. PMID: 26354972

Prognosis

Pappone C, Brugada J, Vicedomini G, Ciconte G, Manguso F, Saviano M, Vitale R, Cuko A, Giannelli L, Calovic Z, Conti M, Pozzi P, Natalizia A, Crisà S, Borrelli V, Brugada R, Sarquella-Brugada G, Guazzi M, Frigiola A, Menicanti L, Santinelli V
Circ Arrhythm Electrophysiol 2017 May;10(5):e005053. doi: 10.1161/CIRCEP.117.005053. PMID: 28500178
Yamagata K, Horie M, Aiba T, Ogawa S, Aizawa Y, Ohe T, Yamagishi M, Makita N, Sakurada H, Tanaka T, Shimizu A, Hagiwara N, Kishi R, Nakano Y, Takagi M, Makiyama T, Ohno S, Fukuda K, Watanabe H, Morita H, Hayashi K, Kusano K, Kamakura S, Yasuda S, Ogawa H, Miyamoto Y, Kapplinger JD, Ackerman MJ, Shimizu W
Circulation 2017 Jun 6;135(23):2255-2270. Epub 2017 Mar 24 doi: 10.1161/CIRCULATIONAHA.117.027983. PMID: 28341781
Gourraud JB, Barc J, Thollet A, Le Marec H, Probst V
Arch Cardiovasc Dis 2017 Mar;110(3):188-195. Epub 2017 Jan 27 doi: 10.1016/j.acvd.2016.09.009. PMID: 28139454
Campuzano O, Fernández-Falgueras A, Iglesias A, Brugada R
Int J Cardiol 2016 Jul 1;214:403-5. Epub 2016 Apr 7 doi: 10.1016/j.ijcard.2016.03.194. PMID: 27085656
Daidoji H, Arimoto T, Iwayama T, Ishigaki D, Hashimoto N, Kumagai Y, Nishiyama S, Takahashi H, Shishido T, Miyamoto T, Watanabe T, Kubota I
J Cardiol 2016 Mar;67(3):221-8. Epub 2015 Jun 6 doi: 10.1016/j.jjcc.2015.04.011. PMID: 26058546

Clinical prediction guides

Gonzalez Corcia MC, Sieira J, Pappaert G, de Asmundis C, Chierchia GB, Sarkozy A, Brugada P
Am J Cardiol 2017 Sep 1;120(5):797-802. Epub 2017 Jun 15 doi: 10.1016/j.amjcard.2017.05.056. PMID: 28728742
Pappone C, Brugada J, Vicedomini G, Ciconte G, Manguso F, Saviano M, Vitale R, Cuko A, Giannelli L, Calovic Z, Conti M, Pozzi P, Natalizia A, Crisà S, Borrelli V, Brugada R, Sarquella-Brugada G, Guazzi M, Frigiola A, Menicanti L, Santinelli V
Circ Arrhythm Electrophysiol 2017 May;10(5):e005053. doi: 10.1161/CIRCEP.117.005053. PMID: 28500178
Yamagata K, Horie M, Aiba T, Ogawa S, Aizawa Y, Ohe T, Yamagishi M, Makita N, Sakurada H, Tanaka T, Shimizu A, Hagiwara N, Kishi R, Nakano Y, Takagi M, Makiyama T, Ohno S, Fukuda K, Watanabe H, Morita H, Hayashi K, Kusano K, Kamakura S, Yasuda S, Ogawa H, Miyamoto Y, Kapplinger JD, Ackerman MJ, Shimizu W
Circulation 2017 Jun 6;135(23):2255-2270. Epub 2017 Mar 24 doi: 10.1161/CIRCULATIONAHA.117.027983. PMID: 28341781
Gourraud JB, Barc J, Thollet A, Le Marec H, Probst V
Arch Cardiovasc Dis 2017 Mar;110(3):188-195. Epub 2017 Jan 27 doi: 10.1016/j.acvd.2016.09.009. PMID: 28139454
Daidoji H, Arimoto T, Iwayama T, Ishigaki D, Hashimoto N, Kumagai Y, Nishiyama S, Takahashi H, Shishido T, Miyamoto T, Watanabe T, Kubota I
J Cardiol 2016 Mar;67(3):221-8. Epub 2015 Jun 6 doi: 10.1016/j.jjcc.2015.04.011. PMID: 26058546

Recent systematic reviews

Duque M, Santos L, Ribeiro S, Catré D
J Clin Anesth 2017 Feb;36:168-173. Epub 2016 Dec 7 doi: 10.1016/j.jclinane.2016.09.031. PMID: 28183560
Wu W, Tian L, Ke J, Sun Y, Wu R, Zhu J, Ke Q
Medicine (Baltimore) 2016 Jul;95(30):e4214. doi: 10.1097/MD.0000000000004214. PMID: 27472692Free PMC Article
Sroubek J, Probst V, Mazzanti A, Delise P, Hevia JC, Ohkubo K, Zorzi A, Champagne J, Kostopoulou A, Yin X, Napolitano C, Milan DJ, Wilde A, Sacher F, Borggrefe M, Ellinor PT, Theodorakis G, Nault I, Corrado D, Watanabe I, Antzelevitch C, Allocca G, Priori SG, Lubitz SA
Circulation 2016 Feb 16;133(7):622-30. Epub 2016 Jan 21 doi: 10.1161/CIRCULATIONAHA.115.017885. PMID: 26797467Free PMC Article
Steinfurt J, Biermann J, Bode C, Odening KE
Dtsch Arztebl Int 2015 Jun 5;112(23):394-401. doi: 10.3238/arztebl.2015.0394. PMID: 26157012Free PMC Article
Masrur S, Memon S, Thompson PD
Clin Cardiol 2015 May;38(5):323-6. Epub 2015 May 8 doi: 10.1002/clc.22386. PMID: 25955277

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