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Brugada syndrome 6(BRGDA6)

MedGen UID:
413473
Concept ID:
C2751089
Disease or Syndrome
Synonym: BRGDA6
 
Gene (location): KCNE3 (11q13.4)
 
Monarch Initiative: MONDO:0013145
OMIM®: 613119

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 general phenotypic description and discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 (601144).  http://www.omim.org/entry/613119

Clinical features

From HPO
Cardiac arrest
MedGen UID:
5456
Concept ID:
C0018790
Finding
An abrupt loss of heart function.
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

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
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
Pereira R, Campuzano O, Sarquella-Brugada G, Cesar S, Iglesias A, Brugada J, Cruz Filho FES, Brugada R
Clin Res Cardiol 2017 Jun;106(6):393-400. Epub 2017 Mar 16 doi: 10.1007/s00392-017-1094-1. PMID: 28303324
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 P, Brugada J
J Am Coll Cardiol 1992 Nov 15;20(6):1391-6. doi: 10.1016/0735-1097(92)90253-j. PMID: 1309182

Diagnosis

Kriegeskorte S, Bott R, Hampl M, Korngreen A, Hausmann R, Lampert A
J Gen Physiol 2023 Sep 4;155(9) Epub 2023 Aug 2 doi: 10.1085/jgp.202213312. PMID: 37531097Free PMC Article
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
Pereira R, Campuzano O, Sarquella-Brugada G, Cesar S, Iglesias A, Brugada J, Cruz Filho FES, Brugada R
Clin Res Cardiol 2017 Jun;106(6):393-400. Epub 2017 Mar 16 doi: 10.1007/s00392-017-1094-1. PMID: 28303324
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 P, Brugada J
J Am Coll Cardiol 1992 Nov 15;20(6):1391-6. doi: 10.1016/0735-1097(92)90253-j. PMID: 1309182

Therapy

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
Bozic B, Uzelac TV, Kezic A, Bajcetic M
Mini Rev Med Chem 2018;18(6):468-475. doi: 10.2174/1389557517666170707110450. PMID: 28685701
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
Nademanee K, Raju H, de Noronha SV, Papadakis M, Robinson L, Rothery S, Makita N, Kowase S, Boonmee N, Vitayakritsirikul V, Ratanarapee S, Sharma S, van der Wal AC, Christiansen M, Tan HL, Wilde AA, Nogami A, Sheppard MN, Veerakul G, Behr ER
J Am Coll Cardiol 2015 Nov 3;66(18):1976-1986. doi: 10.1016/j.jacc.2015.08.862. PMID: 26516000Free PMC Article
Shen MJ, Zipes DP
Circ Res 2014 Mar 14;114(6):1004-21. doi: 10.1161/CIRCRESAHA.113.302549. PMID: 24625726

Prognosis

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
Specterman MJ, Behr ER
Heart 2023 Feb 23;109(6):434-441. doi: 10.1136/heartjnl-2021-320015. PMID: 36167638
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
de Asmundis C, Mugnai G, Chierchia GB, Sieira J, Conte G, Rodriguez-Mañero M, Pappaert G, Czapla J, Nijs J, La Meir M, Casado R, Ströker E, De Regibus V, Brugada P
Am J Cardiol 2017 May 1;119(9):1392-1400. Epub 2017 Feb 10 doi: 10.1016/j.amjcard.2017.01.039. PMID: 28274576
Giudicessi JR, Ackerman MJ
Nat Rev Cardiol 2012 Jan 31;9(6):319-32. doi: 10.1038/nrcardio.2012.3. PMID: 22290238Free PMC Article

Clinical prediction guides

Perrot A, Rickert-Sperling S
Adv Exp Med Biol 2024;1441:505-534. doi: 10.1007/978-3-031-44087-8_27. PMID: 38884729
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
Hernandez-Ojeda J, Arbelo E, Jorda P, Borras R, Campuzano O, Sarquella-Brugada G, Iglesias A, Mont L, Brugada R, Brugada J
Am Heart J 2020 Feb;220:213-223. Epub 2019 Nov 8 doi: 10.1016/j.ahj.2019.10.016. PMID: 31864099
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
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

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
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
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
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
McNamara DA, Goldberger JJ, Berendsen MA, Huffman MD
Cochrane Database Syst Rev 2015 Oct 7;2015(10):CD011168. doi: 10.1002/14651858.CD011168.pub2. PMID: 26445202Free PMC Article

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