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Brugada syndrome 9(BRGDA9)

MedGen UID:
903155
Concept ID:
C4225340
Disease or Syndrome
Synonym: BRGDA9
 
Gene (location): KCND3 (1p13.2)
 
Monarch Initiative: MONDO:0014621
OMIM®: 616399

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 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/616399

Clinical features

From HPO
Palpitations
MedGen UID:
14579
Concept ID:
C0030252
Finding
A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
Prolonged QT interval
MedGen UID:
57494
Concept ID:
C0151878
Finding
Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (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.
Presyncope
MedGen UID:
148578
Concept ID:
C0700200
Sign or Symptom
Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause.

Professional guidelines

PubMed

Avari Silva JN, Bromberg BI, Emge FK, Bowman TM, Van Hare GF
J Am Heart Assoc 2016 May 26;5(6) doi: 10.1161/JAHA.116.003632. PMID: 27231019Free PMC Article

Recent clinical studies

Etiology

Marsman EMJ, Postema PG, Remme CA
Heart 2022 May;108(9):668-675. Epub 2021 Oct 14 doi: 10.1136/heartjnl-2020-318258. PMID: 34649929
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
Brugada J, Campuzano O, Arbelo E, Sarquella-Brugada G, Brugada R
J Am Coll Cardiol 2018 Aug 28;72(9):1046-1059. doi: 10.1016/j.jacc.2018.06.037. PMID: 30139433
Kloesel B, Ackerman MJ, Sprung J, Narr BJ, Weingarten TN
Can J Anaesth 2011 Sep;58(9):824-36. Epub 2011 Jun 23 doi: 10.1007/s12630-011-9546-y. PMID: 21698509
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

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
Marsman EMJ, Postema PG, Remme CA
Heart 2022 May;108(9):668-675. Epub 2021 Oct 14 doi: 10.1136/heartjnl-2020-318258. PMID: 34649929
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
Brugada J, Campuzano O, Arbelo E, Sarquella-Brugada G, Brugada R
J Am Coll Cardiol 2018 Aug 28;72(9):1046-1059. doi: 10.1016/j.jacc.2018.06.037. PMID: 30139433
Kloesel B, Ackerman MJ, Sprung J, Narr BJ, Weingarten TN
Can J Anaesth 2011 Sep;58(9):824-36. Epub 2011 Jun 23 doi: 10.1007/s12630-011-9546-y. PMID: 21698509

Therapy

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
Rojas R, Kaul R, Frenkel D, Hoch EG, Iwai S, Jacobson JT, Aronow WS
Hosp Pract (1995) 2021 Oct;49(4):255-261. Epub 2021 Mar 30 doi: 10.1080/21548331.2021.1906012. PMID: 33730522
Vlachos K, Mascia G, Martin CA, Bazoukis G, Frontera A, Cheniti G, Letsas KP, Efremidis M, Georgopoulos S, Gkalapis C, Duchateau J, Parmbrun T, Derval N, Hocini M, Haissaguerre M, Jais P, Sacher F
J Cardiovasc Electrophysiol 2020 Apr;31(4):975-984. Epub 2020 Jan 29 doi: 10.1111/jce.14361. PMID: 31961030
Vlachos K, Georgopoulos S, Efremidis M, Sideris A, Letsas KP
Expert Rev Clin Pharmacol 2016;9(1):117-27. Epub 2015 Oct 13 doi: 10.1586/17512433.2016.1100073. PMID: 26460585
Kloesel B, Ackerman MJ, Sprung J, Narr BJ, Weingarten TN
Can J Anaesth 2011 Sep;58(9):824-36. Epub 2011 Jun 23 doi: 10.1007/s12630-011-9546-y. PMID: 21698509

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
Marsman EMJ, Postema PG, Remme CA
Heart 2022 May;108(9):668-675. Epub 2021 Oct 14 doi: 10.1136/heartjnl-2020-318258. PMID: 34649929
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
Maheshwari A, Von Wald L, Krishnan B, Benditt DG
JACC Clin Electrophysiol 2017 Sep;3(9):1058-1059. Epub 2017 Mar 1 doi: 10.1016/j.jacep.2016.12.012. PMID: 29759712

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
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
Marsman EMJ, Postema PG, Remme CA
Heart 2022 May;108(9):668-675. Epub 2021 Oct 14 doi: 10.1136/heartjnl-2020-318258. PMID: 34649929
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
Brugada J, Campuzano O, Arbelo E, Sarquella-Brugada G, Brugada R
J Am Coll Cardiol 2018 Aug 28;72(9):1046-1059. doi: 10.1016/j.jacc.2018.06.037. PMID: 30139433

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
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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