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Brugada syndrome 8(BRGDA8)

MedGen UID:
413928
Concept ID:
C2751083
Disease or Syndrome
Synonym: BRGDA8
 
Gene (location): HCN4 (15q24.1)
 
Monarch Initiative: MONDO:0013148
OMIM®: 613123

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 the 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 genetic heterogeneity of Brugada syndrome, see BRGDA1 (601144).  http://www.omim.org/entry/613123

Clinical features

From HPO
Ventricular tachycardia
MedGen UID:
12068
Concept ID:
C0042514
Finding
A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)
Right bundle branch block
MedGen UID:
88445
Concept ID:
C0085615
Disease or Syndrome
A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the 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.

Recent clinical studies

Etiology

Milman A, Andorin A, Postema PG, Gourraud JB, Sacher F, Mabo P, Kim SH, Maeda S, Takahashi Y, Kamakura T, Aiba T, Conte G, Juang JJM, Leshem E, Michowitz Y, Fogelman R, Hochstadt A, Mizusawa Y, Giustetto C, Arbelo E, Huang Z, Corrado D, Delise P, Allocca G, Takagi M, Wijeyeratne YD, Mazzanti A, Brugada R, Casado-Arroyo R, Champagne J, Calo L, Sarquella-Brugada G, Jespersen CH, Tfelt-Hansen J, Veltmann C, Priori SG, Behr ER, Yan GX, Brugada J, Gaita F, Wilde AAM, Brugada P, Kusano KF, Hirao K, Nam GB, Probst V, Belhassen B
Heart Rhythm 2019 Oct;16(10):1468-1474. Epub 2019 Jul 5 doi: 10.1016/j.hrthm.2019.07.003. PMID: 31284050
Pappone C, Ciconte G, Manguso F, Vicedomini G, Mecarocci V, Conti M, Giannelli L, Pozzi P, Borrelli V, Menicanti L, Calovic Z, Della Ratta G, Brugada J, Santinelli V
J Am Coll Cardiol 2018 Apr 17;71(15):1631-1646. doi: 10.1016/j.jacc.2018.02.022. PMID: 29650119
Gonzalez Corcia MC, Sieira J, Pappaert G, de Asmundis C, Chierchia GB, La Meir M, Sarkozy A, Brugada P
J Am Coll Cardiol 2018 Jan 16;71(2):148-157. doi: 10.1016/j.jacc.2017.10.082. PMID: 29325638
Milman A, Andorin A, Gourraud JB, Sacher F, Mabo P, Kim SH, Maeda S, Takahashi Y, Kamakura T, Aiba T, Conte G, Juang JJM, Leshem E, Rahkovich M, Hochstadt A, Mizusawa Y, Postema PG, Arbelo E, Huang Z, Denjoy I, Giustetto C, Wijeyeratne YD, Napolitano C, Michowitz Y, Brugada R, Casado-Arroyo R, Champagne J, Calo L, Sarquella-Brugada G, Tfelt-Hansen J, Priori SG, Takagi M, Veltmann C, Delise P, Corrado D, Behr ER, Gaita F, Yan GX, Brugada J, Leenhardt A, Wilde AAM, Brugada P, Kusano KF, Hirao K, Nam GB, Probst V, Belhassen B
Circ Arrhythm Electrophysiol 2017 Dec;10(12) Epub 2017 Dec 18 doi: 10.1161/CIRCEP.117.005222. PMID: 29254945
Gonzalez Corcia MC, Sieira J, Pappaert G, de Asmundis C, Chierchia GB, Sarkozy A, Brugada P
Am J Cardiol 2017 Sep 1;120(5):797-802. Epub 2017 Jun 15 doi: 10.1016/j.amjcard.2017.05.056. PMID: 28728742

Diagnosis

Scheirlynck E, Van Malderen S, Motoc A, Lie ØH, de Asmundis C, Sieira J, Chierchia GB, Brugada P, Cosyns B, Droogmans S
Int J Cardiol 2020 Jan 15;299:147-152. Epub 2019 Jun 30 doi: 10.1016/j.ijcard.2019.06.074. PMID: 31281045
Milman A, Hochstadt A, Andorin A, Gourraud JB, Sacher F, Mabo P, Kim SH, Conte G, Arbelo E, Kamakura T, Aiba T, Napolitano C, Giustetto C, Denjoy I, Juang JJM, Maeda S, Takahashi Y, Leshem E, Michowitz Y, Rahkovich M, Jespersen CH, Wijeyeratne YD, Champagne J, Calo L, Huang Z, Mizusawa Y, Postema PG, Brugada R, Wilde AAM, Yan GX, Behr ER, Tfelt-Hansen J, Hirao K, Veltmann C, Leenhardt A, Corrado D, Gaita F, Priori SG, Kusano KF, Takagi M, Delise P, Brugada J, Brugada P, Nam GB, Probst V, Belhassen B
Europace 2019 May 1;21(5):796-802. doi: 10.1093/europace/euy301. PMID: 30590530
Gonzalez Corcia MC, Sieira J, Pappaert G, de Asmundis C, Chierchia GB, La Meir M, Sarkozy A, Brugada P
J Am Coll Cardiol 2018 Jan 16;71(2):148-157. doi: 10.1016/j.jacc.2017.10.082. PMID: 29325638
Gonzalez Corcia MC, Sieira J, Pappaert G, de Asmundis C, Chierchia GB, Sarkozy A, Brugada P
Am J Cardiol 2017 Sep 1;120(5):797-802. Epub 2017 Jun 15 doi: 10.1016/j.amjcard.2017.05.056. PMID: 28728742
Sieira J, Conte G, Ciconte G, Chierchia GB, Casado-Arroyo R, Baltogiannis G, Di Giovanni G, Saitoh Y, Juliá J, Mugnai G, La Meir M, Wellens F, Czapla J, Pappaert G, de Asmundis C, Brugada P
Eur Heart J 2017 Jun 7;38(22):1756-1763. doi: 10.1093/eurheartj/ehx119. PMID: 28379344

Therapy

Salghetti F, de Asmundis C, Sieira J, Coutiño HE, Abugattas JP, Varnavas V, Maj R, Terasawa M, Guimarães Osório T, Stroker E, Capulzini L, Iacopino S, Paparella G, Umbrain V, Poelaert J, Van Dooren S, Brugada P, Chierchia GB, La Meir M
Heart Rhythm 2019 Jun;16(6):879-887. Epub 2018 Dec 27 doi: 10.1016/j.hrthm.2018.12.026. PMID: 30594641
Gonzalez Corcia MC, Sieira J, Pappaert G, de Asmundis C, Chierchia GB, La Meir M, Sarkozy A, Brugada P
J Am Coll Cardiol 2018 Jan 16;71(2):148-157. doi: 10.1016/j.jacc.2017.10.082. PMID: 29325638
Sieira J, Ciconte G, Conte G, de Asmundis C, Chierchia GB, Baltogiannis G, Di Giovanni G, Saitoh Y, Casado-Arroyo R, Juliá J, La Meir M, Wellens F, Wauters K, Pappaert G, Brugada P
Heart Rhythm 2017 Oct;14(10):1427-1433. Epub 2017 May 4 doi: 10.1016/j.hrthm.2017.04.044. PMID: 28479512
Brugada J, Pappone C, Berruezo A, Vicedomini G, Manguso F, Ciconte G, Giannelli L, Santinelli V
Circ Arrhythm Electrophysiol 2015 Dec;8(6):1373-81. Epub 2015 Aug 19 doi: 10.1161/CIRCEP.115.003220. PMID: 26291334
Conte G, Sieira J, Ciconte G, de Asmundis C, Chierchia GB, Baltogiannis G, Di Giovanni G, La Meir M, Wellens F, Czapla J, Wauters K, Levinstein M, Saitoh Y, Irfan G, Julià J, Pappaert G, Brugada P
J Am Coll Cardiol 2015 Mar 10;65(9):879-88. doi: 10.1016/j.jacc.2014.12.031. PMID: 25744005

Prognosis

Milman A, Andorin A, Postema PG, Gourraud JB, Sacher F, Mabo P, Kim SH, Maeda S, Takahashi Y, Kamakura T, Aiba T, Conte G, Juang JJM, Leshem E, Michowitz Y, Fogelman R, Hochstadt A, Mizusawa Y, Giustetto C, Arbelo E, Huang Z, Corrado D, Delise P, Allocca G, Takagi M, Wijeyeratne YD, Mazzanti A, Brugada R, Casado-Arroyo R, Champagne J, Calo L, Sarquella-Brugada G, Jespersen CH, Tfelt-Hansen J, Veltmann C, Priori SG, Behr ER, Yan GX, Brugada J, Gaita F, Wilde AAM, Brugada P, Kusano KF, Hirao K, Nam GB, Probst V, Belhassen B
Heart Rhythm 2019 Oct;16(10):1468-1474. Epub 2019 Jul 5 doi: 10.1016/j.hrthm.2019.07.003. PMID: 31284050
Pappone C, Ciconte G, Manguso F, Vicedomini G, Mecarocci V, Conti M, Giannelli L, Pozzi P, Borrelli V, Menicanti L, Calovic Z, Della Ratta G, Brugada J, Santinelli V
J Am Coll Cardiol 2018 Apr 17;71(15):1631-1646. doi: 10.1016/j.jacc.2018.02.022. PMID: 29650119
Gonzalez Corcia MC, Sieira J, Pappaert G, de Asmundis C, Chierchia GB, La Meir M, Sarkozy A, Brugada P
J Am Coll Cardiol 2018 Jan 16;71(2):148-157. doi: 10.1016/j.jacc.2017.10.082. PMID: 29325638
Milman A, Andorin A, Gourraud JB, Sacher F, Mabo P, Kim SH, Maeda S, Takahashi Y, Kamakura T, Aiba T, Conte G, Juang JJM, Leshem E, Rahkovich M, Hochstadt A, Mizusawa Y, Postema PG, Arbelo E, Huang Z, Denjoy I, Giustetto C, Wijeyeratne YD, Napolitano C, Michowitz Y, Brugada R, Casado-Arroyo R, Champagne J, Calo L, Sarquella-Brugada G, Tfelt-Hansen J, Priori SG, Takagi M, Veltmann C, Delise P, Corrado D, Behr ER, Gaita F, Yan GX, Brugada J, Leenhardt A, Wilde AAM, Brugada P, Kusano KF, Hirao K, Nam GB, Probst V, Belhassen B
Circ Arrhythm Electrophysiol 2017 Dec;10(12) Epub 2017 Dec 18 doi: 10.1161/CIRCEP.117.005222. PMID: 29254945
Gonzalez Corcia MC, Sieira J, Pappaert G, de Asmundis C, Chierchia GB, Sarkozy A, Brugada P
Am J Cardiol 2017 Sep 1;120(5):797-802. Epub 2017 Jun 15 doi: 10.1016/j.amjcard.2017.05.056. PMID: 28728742

Clinical prediction guides

Milman A, Andorin A, Postema PG, Gourraud JB, Sacher F, Mabo P, Kim SH, Maeda S, Takahashi Y, Kamakura T, Aiba T, Conte G, Juang JJM, Leshem E, Michowitz Y, Fogelman R, Hochstadt A, Mizusawa Y, Giustetto C, Arbelo E, Huang Z, Corrado D, Delise P, Allocca G, Takagi M, Wijeyeratne YD, Mazzanti A, Brugada R, Casado-Arroyo R, Champagne J, Calo L, Sarquella-Brugada G, Jespersen CH, Tfelt-Hansen J, Veltmann C, Priori SG, Behr ER, Yan GX, Brugada J, Gaita F, Wilde AAM, Brugada P, Kusano KF, Hirao K, Nam GB, Probst V, Belhassen B
Heart Rhythm 2019 Oct;16(10):1468-1474. Epub 2019 Jul 5 doi: 10.1016/j.hrthm.2019.07.003. PMID: 31284050
Milman A, Hochstadt A, Andorin A, Gourraud JB, Sacher F, Mabo P, Kim SH, Conte G, Arbelo E, Kamakura T, Aiba T, Napolitano C, Giustetto C, Denjoy I, Juang JJM, Maeda S, Takahashi Y, Leshem E, Michowitz Y, Rahkovich M, Jespersen CH, Wijeyeratne YD, Champagne J, Calo L, Huang Z, Mizusawa Y, Postema PG, Brugada R, Wilde AAM, Yan GX, Behr ER, Tfelt-Hansen J, Hirao K, Veltmann C, Leenhardt A, Corrado D, Gaita F, Priori SG, Kusano KF, Takagi M, Delise P, Brugada J, Brugada P, Nam GB, Probst V, Belhassen B
Europace 2019 May 1;21(5):796-802. doi: 10.1093/europace/euy301. PMID: 30590530
Pappone C, Ciconte G, Manguso F, Vicedomini G, Mecarocci V, Conti M, Giannelli L, Pozzi P, Borrelli V, Menicanti L, Calovic Z, Della Ratta G, Brugada J, Santinelli V
J Am Coll Cardiol 2018 Apr 17;71(15):1631-1646. doi: 10.1016/j.jacc.2018.02.022. PMID: 29650119
Gonzalez Corcia MC, Sieira J, Pappaert G, de Asmundis C, Chierchia GB, La Meir M, Sarkozy A, Brugada P
J Am Coll Cardiol 2018 Jan 16;71(2):148-157. doi: 10.1016/j.jacc.2017.10.082. PMID: 29325638
Gonzalez Corcia MC, Sieira J, Pappaert G, de Asmundis C, Chierchia GB, Sarkozy A, Brugada P
Am J Cardiol 2017 Sep 1;120(5):797-802. Epub 2017 Jun 15 doi: 10.1016/j.amjcard.2017.05.056. PMID: 28728742

Recent systematic reviews

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
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
El-Battrawy I, Roterberg G, Schlentrich K, Liebe V, Lang S, Rudic B, Tülümen E, Zhou X, Borggrefe M, Akin I
Pediatr Cardiol 2020 Feb;41(2):290-296. Epub 2019 Nov 20 doi: 10.1007/s00246-019-02254-5. PMID: 31748893
Fernandes GC, Fernandes A, Cardoso R, Nasi G, Rivera M, Mitrani RD, Goldberger JJ
Heart Rhythm 2018 Aug;15(8):1140-1147. Epub 2018 Mar 20 doi: 10.1016/j.hrthm.2018.03.019. PMID: 29572085

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