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Brugada syndrome 7(BRGDA7)

MedGen UID:
413472
Concept ID:
C2751088
Disease or Syndrome
Synonym: BRGDA7
 
Gene (location): SCN3B (11q24.1)
 
Monarch Initiative: MONDO:0013146
OMIM®: 613120

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 7 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). Atrial Fibrillation 16 Atrial fibrillation (AF) is the most common cardiac arrhythmia in the clinical setting, with a prevalence of 1% in the general population; prevalence increases with age and reaches more than 8% in the ninth decade of life. AF accounts for more than 15% of strokes, and is associated with worsening heart failure and increased mortality. More than 30% of cases of AF are considered to be 'lone AF,' unassociated with coronary artery disease, hypertension, valvular heart disease, hyperthyroidism, heart failure, or structural heart disease (summary by Wang et al., 2010). For a discussion of genetic heterogeneity of atrial fibrillation, see ATFB1 (608583).  http://www.omim.org/entry/613120

Clinical features

From HPO
Atrial flutter
MedGen UID:
13955
Concept ID:
C0004239
Pathologic Function
A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit.
Paroxysmal atrial fibrillation
MedGen UID:
115990
Concept ID:
C0235480
Disease or Syndrome
Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.
Prolonged P wave
MedGen UID:
606917
Concept ID:
C0429022
Finding
Abnormal increased in the duration of the P wave, which is a marker of delayed inter-atrial conduction.
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.
Permanent atrial fibrillation
MedGen UID:
750308
Concept ID:
C2586056
Pathologic Function
Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.

Professional guidelines

PubMed

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
Baranchuk A, Enriquez A, García-Niebla J, Bayés-Genís A, Villuendas R, Bayés de Luna A
Ann Noninvasive Electrocardiol 2015 Jan;20(1):7-17. Epub 2014 Dec 26 doi: 10.1111/anec.12241. PMID: 25546557Free 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

Gaita F, Cerrato N, Giustetto C, Martino A, Bergamasco L, Millesimo M, Barbonaglia L, Carvalho P, Caponi D, Saglietto A, Bonacchi G, Bianchi F, Silvetti E, Crescenzi C, Canestrelli S, De Maio M, De Ferrari GM, Musumeci G, Rametta F, Scaglione M, Calò L
Circulation 2023 Nov 14;148(20):1543-1555. Epub 2023 Oct 13 doi: 10.1161/CIRCULATIONAHA.123.064689. PMID: 37830188Free PMC Article
Cheniti G, Haissaguerre M, Dina C, Kamakura T, Duchateau J, Sacher F, Racine HP, Surget E, Simonet F, Gourraud JB, Sridi S, Cochet H, Andre C, Bouyer B, Chauvel R, Tixier R, Derval N, Pambrun T, Dubois R, Jais P, Nademanee K, Redon R, Schott JJ, Probst V, Hocini M, Barc J, Bernus O
JACC Clin Electrophysiol 2023 Oct;9(10):2041-2051. Epub 2023 Jul 19 doi: 10.1016/j.jacep.2023.05.039. PMID: 37480873
Rizzo A, Borio G, Sieira J, Van Dooren S, Overeinder I, Bala G, Pappaert G, Maj R, Osório TG, Terasawa M, Galli A, Cecchini F, Miraglia V, Ströker E, La Meir M, Brugada P, Chierchia GB, de Asmundis C
Am J Cardiol 2020 Nov 15;135:91-98. Epub 2020 Aug 27 doi: 10.1016/j.amjcard.2020.08.024. PMID: 32861732
Antzelevitch C, Yan GX
Heart Rhythm 2010 Apr;7(4):549-58. Epub 2009 Dec 11 doi: 10.1016/j.hrthm.2009.12.006. PMID: 20153265Free 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

Diagnosis

Kittnar O
Physiol Res 2023 Jul 31;72(Suppl 2):S127-S135. doi: 10.33549/physiolres.934952. PMID: 37565417Free PMC Article
Mascia G, Bona RD, Ameri P, Canepa M, Porto I, Parati G, Crotti L, Brignole M
Europace 2021 Jul 18;23(7):996-1002. doi: 10.1093/europace/euaa370. PMID: 33367713
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
Baranchuk A, Enriquez A, García-Niebla J, Bayés-Genís A, Villuendas R, Bayés de Luna A
Ann Noninvasive Electrocardiol 2015 Jan;20(1):7-17. Epub 2014 Dec 26 doi: 10.1111/anec.12241. PMID: 25546557Free PMC Article
Antzelevitch C, Yan GX
Heart Rhythm 2010 Apr;7(4):549-58. Epub 2009 Dec 11 doi: 10.1016/j.hrthm.2009.12.006. PMID: 20153265Free PMC Article

Therapy

Kotake Y, Barua S, Kazi S, Virk S, Bhaskaran A, Campbell T, Bennett RG, Kumar S
Clin Res Cardiol 2023 Dec;112(12):1715-1726. Epub 2022 Apr 22 doi: 10.1007/s00392-022-02020-3. PMID: 35451610Free PMC Article
Elikowski W, Łazowski S, Fertała N, Zawodna-Marszałek M, Szczęśniewski P, Bolewski A, Żytkiewicz M
Pol Merkur Lekarski 2022 Dec 22;50(300):378-383. PMID: 36645685
Escande W, Gourraud JB, Haissaguerre M, Gandjbakhch E, Lavergne T, Martins R, Cheniti G, Krisai P, Hermida JS, Maury P, Merino JL, Pasquié JL, Combes N, Surget E, Duchateau J, Pambrun T, Derval N, Hocini M, Jaïs P, Postema PG, Nademanee K, Vigmond E, Bernus O, Sacher F, Probst V
Heart Rhythm 2022 Oct;19(10):1595-1603. Epub 2022 Jul 12 doi: 10.1016/j.hrthm.2022.06.034. PMID: 35835363
Berne P, Brugada J
Circ J 2012;76(7):1563-71. Epub 2012 Jun 13 doi: 10.1253/circj.cj-12-0717. PMID: 22789973
Veltmann C, Schimpf R, Borggrefe M, Wolpert C
Herz 2009 Nov;34(7):518-27. doi: 10.1007/s00059-009-3288-4. PMID: 20091251

Prognosis

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
Gaita F, Cerrato N, Giustetto C, Martino A, Bergamasco L, Millesimo M, Barbonaglia L, Carvalho P, Caponi D, Saglietto A, Bonacchi G, Bianchi F, Silvetti E, Crescenzi C, Canestrelli S, De Maio M, De Ferrari GM, Musumeci G, Rametta F, Scaglione M, Calò L
Circulation 2023 Nov 14;148(20):1543-1555. Epub 2023 Oct 13 doi: 10.1161/CIRCULATIONAHA.123.064689. PMID: 37830188Free PMC Article
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
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
Li A, Saba MM, Behr ER
Biomark Med 2013 Aug;7(4):535-46. doi: 10.2217/bmm.13.78. PMID: 23905889

Clinical prediction guides

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
Cheniti G, Haissaguerre M, Dina C, Kamakura T, Duchateau J, Sacher F, Racine HP, Surget E, Simonet F, Gourraud JB, Sridi S, Cochet H, Andre C, Bouyer B, Chauvel R, Tixier R, Derval N, Pambrun T, Dubois R, Jais P, Nademanee K, Redon R, Schott JJ, Probst V, Hocini M, Barc J, Bernus O
JACC Clin Electrophysiol 2023 Oct;9(10):2041-2051. Epub 2023 Jul 19 doi: 10.1016/j.jacep.2023.05.039. PMID: 37480873
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
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
Sternick EB, Oliva A, Magalhães LP, Gerken LM, Hong K, Santana O, Brugada P, Brugada J, Brugada R
J Cardiovasc Electrophysiol 2006 Jul;17(7):724-32. doi: 10.1111/j.1540-8167.2006.00485.x. PMID: 16836667

Recent systematic reviews

Kotake Y, Barua S, Kazi S, Virk S, Bhaskaran A, Campbell T, Bennett RG, Kumar S
Clin Res Cardiol 2023 Dec;112(12):1715-1726. Epub 2022 Apr 22 doi: 10.1007/s00392-022-02020-3. PMID: 35451610Free PMC Article
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
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
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

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