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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
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
Dendramis G, Paleologo C, Sgarito G, Giordano U, Verlato R, Baranchuk A, Brugada P
Am J Cardiol 2017 Sep 15;120(6):1031-1036. Epub 2017 Jun 28 doi: 10.1016/j.amjcard.2017.06.034. PMID: 28739038
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
Escárcega RO, Jiménez-Hernández M, Garcia-Carrasco M, Perez-Alva JC, Brugada J
Acta Cardiol 2009 Dec;64(6):795-801. doi: 10.2143/AC.64.6.2044745. PMID: 20128157

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
Antzelevitch C, Di Diego JM
Trends Cardiovasc Med 2022 Aug;32(6):350-363. Epub 2021 Jul 10 doi: 10.1016/j.tcm.2021.07.001. PMID: 34256120Free 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
Escárcega RO, Jiménez-Hernández M, Garcia-Carrasco M, Perez-Alva JC, Brugada J
Acta Cardiol 2009 Dec;64(6):795-801. doi: 10.2143/AC.64.6.2044745. PMID: 20128157
Brugada P, Brugada R, Brugada J
Curr Cardiol Rep 2000 Nov;2(6):507-14. doi: 10.1007/s11886-000-0035-0. PMID: 11060577

Therapy

Argenziano M, Antzelevitch C
Expert Rev Cardiovasc Ther 2018 Jun;16(6):387-404. Epub 2018 May 18 doi: 10.1080/14779072.2018.1475230. PMID: 29757020Free 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
Gonzalez Corcia MC, de Asmundis C, Chierchia GB, Brugada P
Cardiol Young 2016 Aug;26(6):1044-55. Epub 2016 May 6 doi: 10.1017/S1047951116000548. PMID: 27151277
Shen MJ, Zipes DP
Circ Res 2014 Mar 14;114(6):1004-21. doi: 10.1161/CIRCRESAHA.113.302549. PMID: 24625726
Brugada P, Brugada R, Brugada J
Curr Cardiol Rep 2000 Nov;2(6):507-14. doi: 10.1007/s11886-000-0035-0. PMID: 11060577

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
El-Battrawy I, Roterberg G, Liebe V, Ansari U, Lang S, Zhou X, Borggrefe M, Akin I
Clin Cardiol 2019 Oct;42(10):958-965. Epub 2019 Aug 22 doi: 10.1002/clc.23247. PMID: 31441080Free PMC Article
Dendramis G, Paleologo C, Sgarito G, Giordano U, Verlato R, Baranchuk A, Brugada P
Am J Cardiol 2017 Sep 15;120(6):1031-1036. Epub 2017 Jun 28 doi: 10.1016/j.amjcard.2017.06.034. PMID: 28739038
Brugada P, Brugada J, Brugada R
Card Electrophysiol Rev 2002 Feb;6(1-2):45-8. doi: 10.1023/a:1017978903909. PMID: 11984016
Brugada P, Brugada R, Brugada J
Curr Cardiol Rep 2000 Nov;2(6):507-14. doi: 10.1007/s11886-000-0035-0. PMID: 11060577

Clinical prediction guides

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
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
Escárcega RO, Jiménez-Hernández M, Garcia-Carrasco M, Perez-Alva JC, Brugada J
Acta Cardiol 2009 Dec;64(6):795-801. doi: 10.2143/AC.64.6.2044745. PMID: 20128157
Francis J, Antzelevitch C
J Am Coll Cardiol 2008 Mar 25;51(12):1149-53. doi: 10.1016/j.jacc.2007.10.062. PMID: 18355651Free PMC Article
Weiss R, Barmada MM, Nguyen T, Seibel JS, Cavlovich D, Kornblit CA, Angelilli A, Villanueva F, McNamara DM, London B
Circulation 2002 Feb 12;105(6):707-13. doi: 10.1161/hc0602.103618. PMID: 11839626

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
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
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

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