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Brugada syndrome 5(BRGDA5)

MedGen UID:
411607
Concept ID:
C2748541
Disease or Syndrome
Synonym: BRGDA5
 
Gene (location): SCN1B (19q13.11)
 
Monarch Initiative: MONDO:0013015
OMIM®: 612838

Disease characteristics

Excerpted from the GeneReview: Brugada Syndrome
Brugada syndrome is characterized by cardiac conduction abnormalities (ST segment abnormalities in leads V1-V3 on EKG 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 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 GeneReviews]
Authors:
Ramon Brugada  |  Oscar Campuzano  |  Georgia Sarquella-Brugada, et. al.   view full author information

Additional description

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). For a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 (601144).  http://www.omim.org/entry/612838

Clinical features

From HPO
Bundle branch block
MedGen UID:
2752
Concept ID:
C0006384
Finding
Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches.
Ventricular fibrillation
MedGen UID:
21844
Concept ID:
C0042510
Disease or Syndrome
Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
ST segment elevation
MedGen UID:
99256
Concept ID:
C0520886
Finding
An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line.

Professional guidelines

PubMed

Restrepo JA, MacLean R, Celano CM, Huffman JC, Januzzi JL, Beach SR
Gen Hosp Psychiatry 2022 Sep-Oct;78:14-27. Epub 2022 Jun 22 doi: 10.1016/j.genhosppsych.2022.06.004. PMID: 35763920
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
Kapplinger JD, Tester DJ, Alders M, Benito B, Berthet M, Brugada J, Brugada P, Fressart V, Guerchicoff A, Harris-Kerr C, Kamakura S, Kyndt F, Koopmann TT, Miyamoto Y, Pfeiffer R, Pollevick GD, Probst V, Zumhagen S, Vatta M, Towbin JA, Shimizu W, Schulze-Bahr E, Antzelevitch C, Salisbury BA, Guicheney P, Wilde AA, Brugada R, Schott JJ, Ackerman MJ
Heart Rhythm 2010 Jan;7(1):33-46. Epub 2009 Oct 8 doi: 10.1016/j.hrthm.2009.09.069. PMID: 20129283Free PMC Article

Recent clinical studies

Etiology

Cerrone M, Costa S, Delmar M
Annu Rev Genomics Hum Genet 2022 Aug 31;23:255-274. Epub 2022 May 13 doi: 10.1146/annurev-genom-112921-011200. PMID: 35567276
Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, Jurgens SJ, Baudic M, Nicastro M, Potet F, Offerhaus JA, Walsh R, Choi SH, Verkerk AO, Mizusawa Y, Anys S, Minois D, Arnaud M, Duchateau J, Wijeyeratne YD, Muir A, Papadakis M, Castelletti S, Torchio M, Ortuño CG, Lacunza J, Giachino DF, Cerrato N, Martins RP, Campuzano O, Van Dooren S, Thollet A, Kyndt F, Mazzanti A, Clémenty N, Bisson A, Corveleyn A, Stallmeyer B, Dittmann S, Saenen J, Noël A, Honarbakhsh S, Rudic B, Marzak H, Rowe MK, Federspiel C, Le Page S, Placide L, Milhem A, Barajas-Martinez H, Beckmann BM, Krapels IP, Steinfurt J, Winkel BG, Jabbari R, Shoemaker MB, Boukens BJ, Škorić-Milosavljević D, Bikker H, Manevy F, Lichtner P, Ribasés M, Meitinger T, Müller-Nurasyid M; KORA-Study Group, Veldink JH, van den Berg LH, Van Damme P, Cusi D, Lanzani C, Rigade S, Charpentier E, Baron E, Bonnaud S, Lecointe S, Donnart A, Le Marec H, Chatel S, Karakachoff M, Bézieau S, London B, Tfelt-Hansen J, Roden D, Odening KE, Cerrone M, Chinitz LA, Volders PG, van de Berg MP, Laurent G, Faivre L, Antzelevitch C, Kääb S, Arnaout AA, Dupuis JM, Pasquie JL, Billon O, Roberts JD, Jesel L, Borggrefe M, Lambiase PD, Mansourati J, Loeys B, Leenhardt A, Guicheney P, Maury P, Schulze-Bahr E, Robyns T, Breckpot J, Babuty D, Priori SG, Napolitano C; Nantes Referral Center for inherited cardiac arrhythmia, de Asmundis C, Brugada P, Brugada R, Arbelo E, Brugada J, Mabo P, Behar N, Giustetto C, Molina MS, Gimeno JR, Hasdemir C, Schwartz PJ, Crotti L, McKeown PP, Sharma S, Behr ER, Haissaguerre M, Sacher F, Rooryck C, Tan HL, Remme CA, Postema PG, Delmar M, Ellinor PT, Lubitz SA, Gourraud JB, Tanck MW, George AL Jr, MacRae CA, Burridge PW, Dina C, Probst V, Wilde AA, Schott JJ, Redon R, Bezzina CR
Nat Genet 2022 Mar;54(3):232-239. Epub 2022 Feb 24 doi: 10.1038/s41588-021-01007-6. PMID: 35210625Free PMC Article
Korlipara H, Korlipara G, Pentyala S
Acta Cardiol 2021 Oct;76(8):805-824. Epub 2020 Jul 20 doi: 10.1080/00015385.2020.1790823. PMID: 32684122
Wilde AAM, Amin AS
JACC Clin Electrophysiol 2018 May;4(5):569-579. Epub 2018 May 2 doi: 10.1016/j.jacep.2018.03.006. PMID: 29798782
Brugada R, Campuzano O, Sarquella-Brugada G, Brugada J, Brugada P
Methodist Debakey Cardiovasc J 2014 Jan-Mar;10(1):25-8. doi: 10.14797/mdcj-10-1-25. PMID: 24932359Free PMC Article

Diagnosis

Chen GX, Barajas-Martínez H, Ciconte G, Wu CI, Monasky MM, Xia H, Li B, Capra JA, Guo K, Zhang ZH, Chen X, Yang B, Jiang H, Tse G, Mak CM, Aizawa Y, Gollob MH, Antzelevitch C, Wilde AAM, Pappone C, Hu D
EBioMedicine 2023 Jan;87:104388. Epub 2022 Dec 12 doi: 10.1016/j.ebiom.2022.104388. PMID: 36516610Free PMC Article
Korlipara H, Korlipara G, Pentyala S
Acta Cardiol 2021 Oct;76(8):805-824. Epub 2020 Jul 20 doi: 10.1080/00015385.2020.1790823. PMID: 32684122
Wilde AAM, Amin AS
JACC Clin Electrophysiol 2018 May;4(5):569-579. Epub 2018 May 2 doi: 10.1016/j.jacep.2018.03.006. PMID: 29798782
Vandael E, Vandenberk B, Vandenberghe J, Willems R, Foulon V
Int J Clin Pharm 2017 Feb;39(1):16-25. Epub 2016 Dec 23 doi: 10.1007/s11096-016-0414-2. PMID: 28012118
Brugada R, Campuzano O, Sarquella-Brugada G, Brugada J, Brugada P
Methodist Debakey Cardiovasc J 2014 Jan-Mar;10(1):25-8. doi: 10.14797/mdcj-10-1-25. PMID: 24932359Free PMC Article

Therapy

Manolis AA, Manolis TA, Apostolopoulos EJ, Apostolaki NE, Melita H, Manolis AS
Trends Cardiovasc Med 2021 Jul;31(5):290-302. Epub 2020 May 17 doi: 10.1016/j.tcm.2020.04.011. PMID: 32434043
Vandael E, Vandenberk B, Vandenberghe J, Willems R, Foulon V
Int J Clin Pharm 2017 Feb;39(1):16-25. Epub 2016 Dec 23 doi: 10.1007/s11096-016-0414-2. PMID: 28012118
Tariq M, Peshin R, Ellis O, Grover K
BMJ Case Rep 2015 Jan 7;2015 doi: 10.1136/bcr-2014-206872. PMID: 25566931Free PMC Article
Mashar M, Kwok AJ, Pinder R, Sabir I
Trends Cardiovasc Med 2014 Jul;24(5):191-6. Epub 2013 Nov 11 doi: 10.1016/j.tcm.2013.11.001. PMID: 24332084
Napolitano C, Priori SG
Orphanet J Rare Dis 2006 Sep 14;1:35. doi: 10.1186/1750-1172-1-35. PMID: 16972995Free PMC Article

Prognosis

Chen GX, Barajas-Martínez H, Ciconte G, Wu CI, Monasky MM, Xia H, Li B, Capra JA, Guo K, Zhang ZH, Chen X, Yang B, Jiang H, Tse G, Mak CM, Aizawa Y, Gollob MH, Antzelevitch C, Wilde AAM, Pappone C, Hu D
EBioMedicine 2023 Jan;87:104388. Epub 2022 Dec 12 doi: 10.1016/j.ebiom.2022.104388. PMID: 36516610Free PMC Article
Ciconte G, Monasky MM, Santinelli V, Micaglio E, Vicedomini G, Anastasia L, Negro G, Borrelli V, Giannelli L, Santini F, de Innocentiis C, Rondine R, Locati ET, Bernardini A, Mazza BC, Mecarocci V, Ćalović Ž, Ghiroldi A, D'Imperio S, Benedetti S, Di Resta C, Rivolta I, Casari G, Petretto E, Pappone C
Eur Heart J 2021 Mar 14;42(11):1082-1090. doi: 10.1093/eurheartj/ehaa942. PMID: 33221895Free PMC Article
Korlipara H, Korlipara G, Pentyala S
Acta Cardiol 2021 Oct;76(8):805-824. Epub 2020 Jul 20 doi: 10.1080/00015385.2020.1790823. PMID: 32684122
Brugada R, Campuzano O, Sarquella-Brugada G, Brugada J, Brugada P
Methodist Debakey Cardiovasc J 2014 Jan-Mar;10(1):25-8. doi: 10.14797/mdcj-10-1-25. PMID: 24932359Free PMC Article
Rossenbacker T, Priori SG
Curr Opin Cardiol 2007 May;22(3):163-70. doi: 10.1097/HCO.0b013e328112f345. PMID: 17413271

Clinical prediction guides

Cerrone M, Costa S, Delmar M
Annu Rev Genomics Hum Genet 2022 Aug 31;23:255-274. Epub 2022 May 13 doi: 10.1146/annurev-genom-112921-011200. PMID: 35567276
Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, Jurgens SJ, Baudic M, Nicastro M, Potet F, Offerhaus JA, Walsh R, Choi SH, Verkerk AO, Mizusawa Y, Anys S, Minois D, Arnaud M, Duchateau J, Wijeyeratne YD, Muir A, Papadakis M, Castelletti S, Torchio M, Ortuño CG, Lacunza J, Giachino DF, Cerrato N, Martins RP, Campuzano O, Van Dooren S, Thollet A, Kyndt F, Mazzanti A, Clémenty N, Bisson A, Corveleyn A, Stallmeyer B, Dittmann S, Saenen J, Noël A, Honarbakhsh S, Rudic B, Marzak H, Rowe MK, Federspiel C, Le Page S, Placide L, Milhem A, Barajas-Martinez H, Beckmann BM, Krapels IP, Steinfurt J, Winkel BG, Jabbari R, Shoemaker MB, Boukens BJ, Škorić-Milosavljević D, Bikker H, Manevy F, Lichtner P, Ribasés M, Meitinger T, Müller-Nurasyid M; KORA-Study Group, Veldink JH, van den Berg LH, Van Damme P, Cusi D, Lanzani C, Rigade S, Charpentier E, Baron E, Bonnaud S, Lecointe S, Donnart A, Le Marec H, Chatel S, Karakachoff M, Bézieau S, London B, Tfelt-Hansen J, Roden D, Odening KE, Cerrone M, Chinitz LA, Volders PG, van de Berg MP, Laurent G, Faivre L, Antzelevitch C, Kääb S, Arnaout AA, Dupuis JM, Pasquie JL, Billon O, Roberts JD, Jesel L, Borggrefe M, Lambiase PD, Mansourati J, Loeys B, Leenhardt A, Guicheney P, Maury P, Schulze-Bahr E, Robyns T, Breckpot J, Babuty D, Priori SG, Napolitano C; Nantes Referral Center for inherited cardiac arrhythmia, de Asmundis C, Brugada P, Brugada R, Arbelo E, Brugada J, Mabo P, Behar N, Giustetto C, Molina MS, Gimeno JR, Hasdemir C, Schwartz PJ, Crotti L, McKeown PP, Sharma S, Behr ER, Haissaguerre M, Sacher F, Rooryck C, Tan HL, Remme CA, Postema PG, Delmar M, Ellinor PT, Lubitz SA, Gourraud JB, Tanck MW, George AL Jr, MacRae CA, Burridge PW, Dina C, Probst V, Wilde AA, Schott JJ, Redon R, Bezzina CR
Nat Genet 2022 Mar;54(3):232-239. Epub 2022 Feb 24 doi: 10.1038/s41588-021-01007-6. PMID: 35210625Free PMC Article
Korlipara H, Korlipara G, Pentyala S
Acta Cardiol 2021 Oct;76(8):805-824. Epub 2020 Jul 20 doi: 10.1080/00015385.2020.1790823. PMID: 32684122
Vandael E, Vandenberk B, Vandenberghe J, Willems R, Foulon V
Int J Clin Pharm 2017 Feb;39(1):16-25. Epub 2016 Dec 23 doi: 10.1007/s11096-016-0414-2. PMID: 28012118
Brugada R, Campuzano O, Sarquella-Brugada G, Brugada J, Brugada P
Methodist Debakey Cardiovasc J 2014 Jan-Mar;10(1):25-8. doi: 10.14797/mdcj-10-1-25. PMID: 24932359Free PMC Article

Recent systematic reviews

Tse G, Lee S, Gong M, Mililis P, Asvestas D, Bazoukis G, Roever L, Jeevaratnam K, Hothi SS, Li KHC, Liu T, Letsas KP
J Interv Card Electrophysiol 2020 Mar;57(2):319-327. Epub 2019 Dec 14 doi: 10.1007/s10840-019-00675-z. PMID: 31836966
Rattanawong P, Riangwiwat T, Prasitlumkum N, Limpruttidham N, Kanjanahattakij N, Chongsathidkiet P, Vutthikraivit W, Chung EH
Ann Noninvasive Electrocardiol 2018 Mar;23(2):e12507. Epub 2017 Oct 14 doi: 10.1111/anec.12507. PMID: 29030919Free PMC Article
Vandael E, Vandenberk B, Vandenberghe J, Willems R, Foulon V
Int J Clin Pharm 2017 Feb;39(1):16-25. Epub 2016 Dec 23 doi: 10.1007/s11096-016-0414-2. PMID: 28012118
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
Masrur S, Memon S, Thompson PD
Clin Cardiol 2015 May;38(5):323-6. Epub 2015 May 8 doi: 10.1002/clc.22386. PMID: 25955277Free PMC Article

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