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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

Authors:

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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

The assessment of cardiac risk in patients taking lamotrigine; a systematic review.
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

Asymptomatic Patients With Brugada ECG Pattern: Long-Term Prognosis From a Large Prospective Study.
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
Brugada syndrome genetics is associated with phenotype severity.
Ciconte G, Monasky MM, Santinelli V, Micaglio E, Vicedomini G, Anastasia L, Negro G, Borrelli V, Giannelli L, Santini F, de Innocentiis C, Rondine R, Locati ET, Bernardini A, Mazza BC, Mecarocci V, Ćalović Ž, Ghiroldi A, D'Imperio S, Benedetti S, Di Resta C, Rivolta I, Casari G, Petretto E, Pappone C
Eur Heart J 2021 Mar 14;42(11):1082-1090. doi: 10.1093/eurheartj/ehaa942. PMID: 33221895Free PMC Article
Clinical presentation and follow-up of women affected by Brugada syndrome.
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
Risk factors for QTc-prolongation: systematic review of the evidence.
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
The Brugada syndrome.
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

Brugada phenocopy vs. Brugada syndrome: Delineating the differences for optimal diagnosis and management.
Adytia GJ, Sutanto H
Curr Probl Cardiol 2024 Jun;49(6):102566. Epub 2024 Apr 8 doi: 10.1016/j.cpcardiol.2024.102566. PMID: 38599558
Implantable loop recorders in patients with Brugada syndrome: the BruLoop study.
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
Latent Causes of Sudden Cardiac Arrest.
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
Risk factors for QTc-prolongation: systematic review of the evidence.
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
The Brugada syndrome.
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

Therapy

Exercise-Induced QRS Prolongation in Brugada Syndrome: Implications for Improving Disease Phenotyping and Diagnosis.
Chakraborty P, Rahimi M, Suszko AM, Massin S, Laksman Z, Spears D, Gollob MH, Chauhan VS
JACC Clin Electrophysiol 2024 Aug;10(8):1813-1824. Epub 2024 Jun 26 doi: 10.1016/j.jacep.2024.04.016. PMID: 38934974
Risk factors for QTc-prolongation: systematic review of the evidence.
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
Sudden flaccid paralysis.
Tariq M, Peshin R, Ellis O, Grover K
BMJ Case Rep 2015 Jan 7;2015 doi: 10.1136/bcr-2014-206872. PMID: 25566931Free PMC Article
Role of the autonomic nervous system in modulating cardiac arrhythmias.
Shen MJ, Zipes DP
Circ Res 2014 Mar 14;114(6):1004-21. doi: 10.1161/CIRCRESAHA.113.302549. PMID: 24625726
The Brugada syndrome.
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

Brugada phenocopy vs. Brugada syndrome: Delineating the differences for optimal diagnosis and management.
Adytia GJ, Sutanto H
Curr Probl Cardiol 2024 Jun;49(6):102566. Epub 2024 Apr 8 doi: 10.1016/j.cpcardiol.2024.102566. PMID: 38599558
Implantable loop recorders in patients with Brugada syndrome: the BruLoop study.
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
Asymptomatic Patients With Brugada ECG Pattern: Long-Term Prognosis From a Large Prospective Study.
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
Brugada syndrome genetics is associated with phenotype severity.
Ciconte G, Monasky MM, Santinelli V, Micaglio E, Vicedomini G, Anastasia L, Negro G, Borrelli V, Giannelli L, Santini F, de Innocentiis C, Rondine R, Locati ET, Bernardini A, Mazza BC, Mecarocci V, Ćalović Ž, Ghiroldi A, D'Imperio S, Benedetti S, Di Resta C, Rivolta I, Casari G, Petretto E, Pappone C
Eur Heart J 2021 Mar 14;42(11):1082-1090. doi: 10.1093/eurheartj/ehaa942. PMID: 33221895Free PMC Article
Clinical presentation and follow-up of women affected by Brugada syndrome.
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

Clinical prediction guides

Human Genetics of Ventricular Septal Defect.
Perrot A, Rickert-Sperling S
Adv Exp Med Biol 2024;1441:505-534. doi: 10.1007/978-3-031-44087-8_27. PMID: 38884729
Implantable loop recorders in patients with Brugada syndrome: the BruLoop study.
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
Brugada syndrome genetics is associated with phenotype severity.
Ciconte G, Monasky MM, Santinelli V, Micaglio E, Vicedomini G, Anastasia L, Negro G, Borrelli V, Giannelli L, Santini F, de Innocentiis C, Rondine R, Locati ET, Bernardini A, Mazza BC, Mecarocci V, Ćalović Ž, Ghiroldi A, D'Imperio S, Benedetti S, Di Resta C, Rivolta I, Casari G, Petretto E, Pappone C
Eur Heart J 2021 Mar 14;42(11):1082-1090. doi: 10.1093/eurheartj/ehaa942. PMID: 33221895Free PMC Article
Clinical presentation and follow-up of women affected by Brugada syndrome.
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
Risk factors for QTc-prolongation: systematic review of the evidence.
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

Predicting arrhythmic event score in Brugada syndrome: Worldwide pooled analysis with internal and external validation.
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
Efficacy and safety of catheter ablation for Brugada syndrome: an updated systematic review.
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
Restitution metrics in Brugada syndrome: a systematic review and meta-analysis.
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
Baseline fragmented QRS increases the risk of major arrhythmic events in Brugada syndrome: Systematic review and meta-analysis.
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
Risk factors for QTc-prolongation: systematic review of the evidence.
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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