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Brugada syndrome 4(BRGDA4)

MedGen UID:
395632
Concept ID:
C2678477
Disease or Syndrome
Synonym: BRGDA4
 
Gene (location): CACNB2 (10p12.33-12.31)
 
Monarch Initiative: MONDO:0012743
OMIM®: 611876

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 discussion of the genetic heterogeneity in Brugada syndrome, see BRGDA1 (601144).  http://www.omim.org/entry/611876

Clinical features

From HPO
Atrial fibrillation
MedGen UID:
445
Concept ID:
C0004238
Finding
An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.
Syncope
MedGen UID:
21443
Concept ID:
C0039070
Sign or Symptom
Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
Shortened QT interval
MedGen UID:
489827
Concept ID:
C0151879
Finding
Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).

Professional guidelines

PubMed

Ingles J, Macciocca I, Morales A, Thomson K
Heart Lung Circ 2020 Apr;29(4):505-511. Epub 2019 Nov 29 doi: 10.1016/j.hlc.2019.10.014. PMID: 31813745
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
Vereckei A, Duray G, Szénási G, Altemose GT, Miller JM
Heart Rhythm 2008 Jan;5(1):89-98. Epub 2007 Sep 20 doi: 10.1016/j.hrthm.2007.09.020. PMID: 18180024

Recent clinical studies

Etiology

Nademanee K, Chung FP, Sacher F, Nogami A, Nakagawa H, Jiang C, Hocini M, Behr E, Veerakul G, Jan Smit J, Wilde AAM, Chen SA, Yamashiro K, Sakamoto Y, Morishima I, Das MK, Khongphatthanayothin A, Vardhanabhuti S, Haissaguerre M
Circulation 2023 May 23;147(21):1568-1578. Epub 2023 Mar 24 doi: 10.1161/CIRCULATIONAHA.122.063367. PMID: 36960730
Popa IP, Șerban DN, Mărănducă MA, Șerban IL, Tamba BI, Tudorancea I
Int J Mol Sci 2023 Feb 7;24(4) doi: 10.3390/ijms24043328. PMID: 36834739Free PMC Article
Bayrak F, Brugada P
Turk Kardiyol Dern Ars 2022 Mar 1;50(2):137-144. doi: 10.5543/tkda.2022.21020. PMID: 35400636
Wilde AAM, Amin AS
JACC Clin Electrophysiol 2018 May;4(5):569-579. Epub 2018 May 2 doi: 10.1016/j.jacep.2018.03.006. PMID: 29798782
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

Popa IP, Șerban DN, Mărănducă MA, Șerban IL, Tamba BI, Tudorancea I
Int J Mol Sci 2023 Feb 7;24(4) doi: 10.3390/ijms24043328. PMID: 36834739Free PMC Article
Bayrak F, Brugada P
Turk Kardiyol Dern Ars 2022 Mar 1;50(2):137-144. doi: 10.5543/tkda.2022.21020. PMID: 35400636
Pérez-Riera AR, Barbosa-Barros R, Samesina N, Pastore CA, Scanavacca M, Daminello-Raimundo R, de Abreu LC, Nikus K, Brugada P
Cardiol Rev 2021 Jul-Aug 01;29(4):165-177. doi: 10.1097/CRD.0000000000000326. PMID: 32947483
Wilde AAM, Amin AS
JACC Clin Electrophysiol 2018 May;4(5):569-579. Epub 2018 May 2 doi: 10.1016/j.jacep.2018.03.006. PMID: 29798782
Benito B, Brugada R, Brugada J, Brugada P
Indian Heart J 2011 Jul-Aug;63(4):320-32. PMID: 22497048

Therapy

Nademanee K, Chung FP, Sacher F, Nogami A, Nakagawa H, Jiang C, Hocini M, Behr E, Veerakul G, Jan Smit J, Wilde AAM, Chen SA, Yamashiro K, Sakamoto Y, Morishima I, Das MK, Khongphatthanayothin A, Vardhanabhuti S, Haissaguerre M
Circulation 2023 May 23;147(21):1568-1578. Epub 2023 Mar 24 doi: 10.1161/CIRCULATIONAHA.122.063367. PMID: 36960730
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
Cerrone M
Trends Cardiovasc Med 2018 May;28(4):284-292. Epub 2017 Nov 27 doi: 10.1016/j.tcm.2017.11.003. PMID: 29254832
Sheldon R
Prog Cardiovasc Dis 2013 Jan-Feb;55(4):390-5. doi: 10.1016/j.pcad.2012.10.011. PMID: 23472776
Yang F, Hanon S, Lam P, Schweitzer P
Am J Med 2009 Apr;122(4):317-21. Epub 2009 Feb 25 doi: 10.1016/j.amjmed.2008.11.019. PMID: 19249010

Prognosis

Pérez-Riera AR, Barbosa-Barros R, Samesina N, Pastore CA, Scanavacca M, Daminello-Raimundo R, de Abreu LC, Nikus K, Brugada P
Cardiol Rev 2021 Jul-Aug 01;29(4):165-177. doi: 10.1097/CRD.0000000000000326. PMID: 32947483
Cerrone M
Trends Cardiovasc Med 2018 May;28(4):284-292. Epub 2017 Nov 27 doi: 10.1016/j.tcm.2017.11.003. PMID: 29254832
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
Sheldon R
Prog Cardiovasc Dis 2013 Jan-Feb;55(4):390-5. doi: 10.1016/j.pcad.2012.10.011. PMID: 23472776
Vereckei A, Duray G, Szénási G, Altemose GT, Miller JM
Heart Rhythm 2008 Jan;5(1):89-98. Epub 2007 Sep 20 doi: 10.1016/j.hrthm.2007.09.020. PMID: 18180024

Clinical prediction guides

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
Pérez-Riera AR, Barbosa-Barros R, Samesina N, Pastore CA, Scanavacca M, Daminello-Raimundo R, de Abreu LC, Nikus K, Brugada P
Cardiol Rev 2021 Jul-Aug 01;29(4):165-177. doi: 10.1097/CRD.0000000000000326. PMID: 32947483
Cerrone M
Trends Cardiovasc Med 2018 May;28(4):284-292. Epub 2017 Nov 27 doi: 10.1016/j.tcm.2017.11.003. PMID: 29254832
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
Vereckei A, Duray G, Szénási G, Altemose GT, Miller JM
Heart Rhythm 2008 Jan;5(1):89-98. Epub 2007 Sep 20 doi: 10.1016/j.hrthm.2007.09.020. PMID: 18180024

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
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
Masrur S, Memon S, Thompson PD
Clin Cardiol 2015 May;38(5):323-6. Epub 2015 May 8 doi: 10.1002/clc.22386. PMID: 25955277Free PMC Article

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