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Brugada syndrome 8(BRGDA8)

MedGen UID:
413928
Concept ID:
C2751083
Disease or Syndrome
Synonym: BRGDA8
 
Gene (location): HCN4 (15q24.1)
 
Monarch Initiative: MONDO:0013148
OMIM®: 613123

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/613123

Clinical features

From HPO
Ventricular tachycardia
MedGen UID:
12068
Concept ID:
C0042514
Finding
A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).
Right bundle branch block
MedGen UID:
88445
Concept ID:
C0085615
Disease or Syndrome
A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.
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

Verdonschot JAJ, Hellebrekers DMEI, van Empel VPM, Heijligers M, de Munnik S, Coonen E, Dreesen JCMF, van den Wijngaard A, Brunner HG, Zamani Esteki M, Heymans SRB, de Die-Smulders CEM, Paulussen ADC
Circ Genom Precis Med 2024 Apr;17(2):e004416. Epub 2024 Mar 22 doi: 10.1161/CIRCGEN.123.004416. PMID: 38516780Free PMC Article
Pannone L, Bisignani A, Osei R, Gauthey A, Sorgente A, Monaco C, Della Rocca DG, Del Monte A, Strazdas A, Mojica J, Al Housari M, Miraglia V, Mouram S, Vetta G, Paparella G, Ramak R, Overeinder I, Bala G, Almorad A, Ströker E, Pappaert G, Sieira J, de Ravel T, La Meir M, Sarkozy A, Brugada P, Chierchia GB, Van Dooren S, de Asmundis C
Circ Arrhythm Electrophysiol 2024 Apr;17(4):e012374. Epub 2024 Mar 1 doi: 10.1161/CIRCEP.123.012374. PMID: 38426305
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

Krahn AD, Behr ER, Hamilton R, Probst V, Laksman Z, Han HC
JACC Clin Electrophysiol 2022 Mar;8(3):386-405. doi: 10.1016/j.jacep.2021.12.001. PMID: 35331438
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
Berthome P, Tixier R, Briand J, Geoffroy O, Babuty D, Mansourati J, Jesel L, Dupuis JM, Bru P, Kyndt F, Guyomarch B, Thollet A, Behar N, Mabo P, Sacher F, Probst V, Gourraud JB
Heart Rhythm 2019 Feb;16(2):260-267. Epub 2018 Sep 5 doi: 10.1016/j.hrthm.2018.08.032. PMID: 30193851
Bhatia A, Sra J, Akhtar M
Curr Probl Cardiol 2012 Aug;37(8):317-62. doi: 10.1016/j.cpcardiol.2012.03.004. PMID: 22749026
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

Diagnosis

Krahn AD, Tfelt-Hansen J, Tadros R, Steinberg C, Semsarian C, Han HC
JACC Clin Electrophysiol 2022 Jun;8(6):806-821. doi: 10.1016/j.jacep.2021.12.014. PMID: 35738861
Krahn AD, Behr ER, Hamilton R, Probst V, Laksman Z, Han HC
JACC Clin Electrophysiol 2022 Mar;8(3):386-405. doi: 10.1016/j.jacep.2021.12.001. PMID: 35331438
Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, Amin AS, Nannenberg EA, Ware JS, Whiffin N, Mazzarotto F, Škorić-Milosavljević D, Krijger C, Arbelo E, Babuty D, Barajas-Martinez H, Beckmann BM, Bézieau S, Bos JM, Breckpot J, Campuzano O, Castelletti S, Celen C, Clauss S, Corveleyn A, Crotti L, Dagradi F, de Asmundis C, Denjoy I, Dittmann S, Ellinor PT, Ortuño CG, Giustetto C, Gourraud JB, Hazeki D, Horie M, Ishikawa T, Itoh H, Kaneko Y, Kanters JK, Kimoto H, Kotta MC, Krapels IPC, Kurabayashi M, Lazarte J, Leenhardt A, Loeys BL, Lundin C, Makiyama T, Mansourati J, Martins RP, Mazzanti A, Mörner S, Napolitano C, Ohkubo K, Papadakis M, Rudic B, Molina MS, Sacher F, Sahin H, Sarquella-Brugada G, Sebastiano R, Sharma S, Sheppard MN, Shimamoto K, Shoemaker MB, Stallmeyer B, Steinfurt J, Tanaka Y, Tester DJ, Usuda K, van der Zwaag PA, Van Dooren S, Van Laer L, Winbo A, Winkel BG, Yamagata K, Zumhagen S, Volders PGA, Lubitz SA, Antzelevitch C, Platonov PG, Odening KE, Roden DM, Roberts JD, Skinner JR, Tfelt-Hansen J, van den Berg MP, Olesen MS, Lambiase PD, Borggrefe M, Hayashi K, Rydberg A, Nakajima T, Yoshinaga M, Saenen JB, Kääb S, Brugada P, Robyns T, Giachino DF, Ackerman MJ, Brugada R, Brugada J, Gimeno JR, Hasdemir C, Guicheney P, Priori SG, Schulze-Bahr E, Makita N, Schwartz PJ, Shimizu W, Aiba T, Schott JJ, Redon R, Ohno S, Probst V; Nantes Referral Center for inherited cardiac arrhythmia, Behr ER, Barc J, Bezzina CR
Genet Med 2021 Jan;23(1):47-58. Epub 2020 Sep 7 doi: 10.1038/s41436-020-00946-5. PMID: 32893267Free 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
Bhatia A, Sra J, Akhtar M
Curr Probl Cardiol 2012 Aug;37(8):317-62. doi: 10.1016/j.cpcardiol.2012.03.004. PMID: 22749026

Therapy

Krahn AD, Behr ER, Hamilton R, Probst V, Laksman Z, Han HC
JACC Clin Electrophysiol 2022 Mar;8(3):386-405. doi: 10.1016/j.jacep.2021.12.001. PMID: 35331438
D'Imperio S, Monasky MM, Micaglio E, Negro G, Pappone C
Nutrients 2021 Jul 21;13(8) doi: 10.3390/nu13082482. PMID: 34444641Free PMC Article
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
Yap YG, Behr ER, Camm AJ
Europace 2009 Aug;11(8):989-94. Epub 2009 May 29 doi: 10.1093/europace/eup114. PMID: 19482855
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

Krahn AD, Behr ER, Hamilton R, Probst V, Laksman Z, Han HC
JACC Clin Electrophysiol 2022 Mar;8(3):386-405. doi: 10.1016/j.jacep.2021.12.001. PMID: 35331438
Rodríguez-Mañero M, Jordá P, Hernandez J, Muñoz C, Grima EZ, García-Fernández A, Cañadas-Godoy MV, Jiménez-Ramos V, Oloriz T, Basterra N, Calvo D, Pérez-Álvarez L, Arias MA, Expósito V, Alemán A, Díaz-Infante E, Guerra-Ramos JM, Fernández-Armenta J, Arce-Leon Á, Sanchez-Gómez JM, Sousa P, García-Bolao I, Baluja A, Campuzano O, Sarquella-Brugada G, Martinez-Sande JL, González-Juanatey JR, Gimeno JR, Brugada J, Arbelo E
Heart Rhythm 2021 May;18(5):664-671. Epub 2020 Dec 24 doi: 10.1016/j.hrthm.2020.12.020. PMID: 33359877
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
Berthome P, Tixier R, Briand J, Geoffroy O, Babuty D, Mansourati J, Jesel L, Dupuis JM, Bru P, Kyndt F, Guyomarch B, Thollet A, Behar N, Mabo P, Sacher F, Probst V, Gourraud JB
Heart Rhythm 2019 Feb;16(2):260-267. Epub 2018 Sep 5 doi: 10.1016/j.hrthm.2018.08.032. PMID: 30193851
Kapplinger JD, Giudicessi JR, Ye D, Tester DJ, Callis TE, Valdivia CR, Makielski JC, Wilde AA, Ackerman MJ
Circ Cardiovasc Genet 2015 Aug;8(4):582-95. Epub 2015 Apr 22 doi: 10.1161/CIRCGENETICS.114.000831. PMID: 25904541Free PMC Article

Clinical prediction guides

Ishikawa T, Masuda T, Hachiya T, Dina C, Simonet F, Nagata Y, Tanck MWT, Sonehara K, Glinge C, Tadros R, Khongphatthanayothin A, Lu TP, Higuchi C, Nakajima T, Hayashi K, Aizawa Y, Nakano Y, Nogami A, Morita H, Ohno S, Aiba T, Krijger Juárez C, Mauleekoonphairoj J, Poovorawan Y, Gourraud JB, Shimizu W, Probst V, Horie M, Wilde AAM, Redon R, Juang JJ, Nademanee K, Bezzina CR, Barc J, Tanaka T, Okada Y, Schott JJ, Makita N
Eur Heart J 2024 Jul 9;45(26):2320-2332. doi: 10.1093/eurheartj/ehae251. PMID: 38747976
Bergonti M, Sacher F, Arbelo E, Crotti L, Sabbag A, Casella M, Saenen J, Rossi A, Monaco C, Pannone L, Compagnucci P, Russo V, Heller E, Santoro A, Berne P, Bisignani A, Baldi E, Van Leuven O, Migliore F, Marcon L, Dagradi F, Sfondrini I, Landra F, Comune A, Cespón-Fernández M, Nesti M, Santoro F, Magnocavallo M, Vicentini A, Conti S, Ribatti V, Brugada P, de Asmundis C, Brugada J, Tondo C, Schwartz PJ, Haissaguerre M, Auricchio A, Conte G
Eur Heart J 2024 Apr 7;45(14):1255-1265. doi: 10.1093/eurheartj/ehae133. PMID: 38445836Free 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
Berthome P, Tixier R, Briand J, Geoffroy O, Babuty D, Mansourati J, Jesel L, Dupuis JM, Bru P, Kyndt F, Guyomarch B, Thollet A, Behar N, Mabo P, Sacher F, Probst V, Gourraud JB
Heart Rhythm 2019 Feb;16(2):260-267. Epub 2018 Sep 5 doi: 10.1016/j.hrthm.2018.08.032. PMID: 30193851
Kapplinger JD, Giudicessi JR, Ye D, Tester DJ, Callis TE, Valdivia CR, Makielski JC, Wilde AA, Ackerman MJ
Circ Cardiovasc Genet 2015 Aug;8(4):582-95. Epub 2015 Apr 22 doi: 10.1161/CIRCGENETICS.114.000831. PMID: 25904541Free PMC Article

Recent systematic reviews

Rattanawong P, Mattanapojanat N, Mead-Harvey C, Van Der Walt C, Kewcharoen J, Kanitsoraphan C, Vutthikraivit W, Prasitlumkum N, Putthapiban P, Chintanavilas K, Sahasthas D, Ngarmukos T, Thakkinstian A, Sorajja D, Makarawate P, Shen WK
Heart Rhythm 2023 Oct;20(10):1358-1367. Epub 2023 Jun 23 doi: 10.1016/j.hrthm.2023.06.013. PMID: 37355026
Mascia G, Della Bona R, Ameri P, Canepa M, Porto I, Brignole M
J Cardiovasc Electrophysiol 2020 Dec;31(12):3334-3338. Epub 2020 Nov 1 doi: 10.1111/jce.14787. PMID: 33090608
Rattanawong P, Kewcharoen J, Kanitsoraphan C, Vutthikraivit W, Putthapiban P, Prasitlumkum N, Mekraksakit P, Mekritthikrai R, Chung EH
J Cardiovasc Electrophysiol 2020 Sep;31(9):2474-2483. Epub 2020 Jul 9 doi: 10.1111/jce.14631. PMID: 32573844
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
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

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