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Brugada syndrome 6(BRGDA6)

MedGen UID:
413473
Concept ID:
C2751089
Disease or Syndrome
Synonyms: BRGDA6
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): KCNE3 (11q13.4)
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 ECG 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 general phenotypic description and discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 (601144).  http://www.omim.org/entry/613119

Clinical features

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

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
Rodríguez-Mañero M, Sacher F, de Asmundis C, Maury P, Lambiase PD, Sarkozy A, Probst V, Gandjbakhch E, Castro-Hevia J, Saenen J, Fukushima Kusano K, Rollin A, Arbelo E, Valderrábano M, Arias MA, Mosquera-Pérez I, Schilling R, Chierchia GB, García-Bolao I, García-Seara J, Hernandez-Ojeda J, Kamakura T, Martínez-Sande L, González-Juanatey JR, Haïssaguerre M, Brugada J, Brugada P
Heart Rhythm 2016 Mar;13(3):669-82. Epub 2015 Oct 29 doi: 10.1016/j.hrthm.2015.10.038. PMID: 26538325
Sieira J, Conte G, Ciconte G, de Asmundis C, Chierchia GB, Baltogiannis G, Di Giovanni G, Saitoh Y, Irfan G, Casado-Arroyo R, Juliá J, La Meir M, Wellens F, Wauters K, Van Malderen S, Pappaert G, Brugada P
Circ Arrhythm Electrophysiol 2015 Aug;8(4):777-84. Epub 2015 Apr 22 doi: 10.1161/CIRCEP.114.002647. PMID: 25904495
Rodríguez-Mañero M, Casado-Arroyo R, Sarkozy A, Leysen E, Sieira JA, Namdar M, Conte G, Levinstein M, Chierchia GB, de Asmundis C, Brugada P
Rev Esp Cardiol (Engl Ed) 2014 Mar;67(3):176-80. Epub 2013 Nov 15 doi: 10.1016/j.rec.2013.06.023. PMID: 24774391
Conte G, DE Asmundis C, Sieira J, Levinstein M, Chierchia GB, DI Giovanni G, Baltogiannis G, Ciconte G, Saitoh Y, Casado-Arroyo R, Pappaert G, Brugada P
J Cardiovasc Electrophysiol 2014 May;25(5):514-9. Epub 2014 Jan 21 doi: 10.1111/jce.12359. PMID: 24400668

Diagnosis

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
Brugada P
J Cardiol 2016 Mar;67(3):215-20. Epub 2015 Nov 25 doi: 10.1016/j.jjcc.2015.08.009. PMID: 26627541
Rodríguez-Mañero M, Sacher F, de Asmundis C, Maury P, Lambiase PD, Sarkozy A, Probst V, Gandjbakhch E, Castro-Hevia J, Saenen J, Fukushima Kusano K, Rollin A, Arbelo E, Valderrábano M, Arias MA, Mosquera-Pérez I, Schilling R, Chierchia GB, García-Bolao I, García-Seara J, Hernandez-Ojeda J, Kamakura T, Martínez-Sande L, González-Juanatey JR, Haïssaguerre M, Brugada J, Brugada P
Heart Rhythm 2016 Mar;13(3):669-82. Epub 2015 Oct 29 doi: 10.1016/j.hrthm.2015.10.038. PMID: 26538325
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, DE Asmundis C, Sieira J, Levinstein M, Chierchia GB, DI Giovanni G, Baltogiannis G, Ciconte G, Saitoh Y, Casado-Arroyo R, Pappaert G, Brugada P
J Cardiovasc Electrophysiol 2014 May;25(5):514-9. Epub 2014 Jan 21 doi: 10.1111/jce.12359. PMID: 24400668

Therapy

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
Sieira J, Conte G, Ciconte G, de Asmundis C, Chierchia GB, Baltogiannis G, Di Giovanni G, Saitoh Y, Irfan G, Casado-Arroyo R, Juliá J, La Meir M, Wellens F, Wauters K, Pappaert G, Brugada P
Heart 2016 Mar;102(6):452-8. Epub 2016 Jan 6 doi: 10.1136/heartjnl-2015-308556. PMID: 26740482
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, Chierchia GB, Wauters K, De Asmundis C, Sarkozy A, Levinstein M, Sieira J, Baltogiannis G, Di Giovanni G, Ciconte G, Casado-Arroyo R, Saitoh Y, Brugada P
Europace 2014 Apr;16(4):528-32. Epub 2013 Oct 9 doi: 10.1093/europace/eut309. PMID: 24108229
de Asmundis C, Ricciardi D, Namdar M, Chierchia GB, Sarkozy A, Brugada P
Europace 2013 Jun;15 Suppl 1:i17-i25. doi: 10.1093/europace/eut112. PMID: 23737224

Prognosis

Rodríguez-Mañero M, Sacher F, de Asmundis C, Maury P, Lambiase PD, Sarkozy A, Probst V, Gandjbakhch E, Castro-Hevia J, Saenen J, Fukushima Kusano K, Rollin A, Arbelo E, Valderrábano M, Arias MA, Mosquera-Pérez I, Schilling R, Chierchia GB, García-Bolao I, García-Seara J, Hernandez-Ojeda J, Kamakura T, Martínez-Sande L, González-Juanatey JR, Haïssaguerre M, Brugada J, Brugada P
Heart Rhythm 2016 Mar;13(3):669-82. Epub 2015 Oct 29 doi: 10.1016/j.hrthm.2015.10.038. PMID: 26538325
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
Sieira J, Conte G, Ciconte G, de Asmundis C, Chierchia GB, Baltogiannis G, Di Giovanni G, Saitoh Y, Irfan G, Casado-Arroyo R, Juliá J, La Meir M, Wellens F, Wauters K, Van Malderen S, Pappaert G, Brugada P
Circ Arrhythm Electrophysiol 2015 Aug;8(4):777-84. Epub 2015 Apr 22 doi: 10.1161/CIRCEP.114.002647. PMID: 25904495
Conte G, DE Asmundis C, Sieira J, Levinstein M, Chierchia GB, DI Giovanni G, Baltogiannis G, Ciconte G, Saitoh Y, Casado-Arroyo R, Pappaert G, Brugada P
J Cardiovasc Electrophysiol 2014 May;25(5):514-9. Epub 2014 Jan 21 doi: 10.1111/jce.12359. PMID: 24400668
Conte G, Chierchia GB, Wauters K, De Asmundis C, Sarkozy A, Levinstein M, Sieira J, Baltogiannis G, Di Giovanni G, Ciconte G, Casado-Arroyo R, Saitoh Y, Brugada P
Europace 2014 Apr;16(4):528-32. Epub 2013 Oct 9 doi: 10.1093/europace/eut309. PMID: 24108229

Clinical prediction guides

Rodríguez-Mañero M, Sacher F, de Asmundis C, Maury P, Lambiase PD, Sarkozy A, Probst V, Gandjbakhch E, Castro-Hevia J, Saenen J, Fukushima Kusano K, Rollin A, Arbelo E, Valderrábano M, Arias MA, Mosquera-Pérez I, Schilling R, Chierchia GB, García-Bolao I, García-Seara J, Hernandez-Ojeda J, Kamakura T, Martínez-Sande L, González-Juanatey JR, Haïssaguerre M, Brugada J, Brugada P
Heart Rhythm 2016 Mar;13(3):669-82. Epub 2015 Oct 29 doi: 10.1016/j.hrthm.2015.10.038. PMID: 26538325
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
Rodríguez-Mañero M, de Asmundis C, Sacher F, Arbelo E, Probst V, Castro-Hevia J, Maury P, Rollin A, Lambiase P, García-Bolao I, Chierchia GB, Fukushima Kusano K, Gourraud JB, Schilling R, Kamakura T, Martínez-Sande JL, Haïssaguerre M, González-Juanatey JR, Brugada J, Brugada P
Circ Arrhythm Electrophysiol 2015 Aug;8(4):792-8. Epub 2015 Jun 3 doi: 10.1161/CIRCEP.115.002871. PMID: 26041387
Sieira J, Conte G, Ciconte G, de Asmundis C, Chierchia GB, Baltogiannis G, Di Giovanni G, Saitoh Y, Irfan G, Casado-Arroyo R, Juliá J, La Meir M, Wellens F, Wauters K, Van Malderen S, Pappaert G, Brugada P
Circ Arrhythm Electrophysiol 2015 Aug;8(4):777-84. Epub 2015 Apr 22 doi: 10.1161/CIRCEP.114.002647. PMID: 25904495
Conte G, DE Asmundis C, Sieira J, Levinstein M, Chierchia GB, DI Giovanni G, Baltogiannis G, Ciconte G, Saitoh Y, Casado-Arroyo R, Pappaert G, Brugada P
J Cardiovasc Electrophysiol 2014 May;25(5):514-9. Epub 2014 Jan 21 doi: 10.1111/jce.12359. PMID: 24400668

Recent systematic reviews

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
McNamara DA, Goldberger JJ, Berendsen MA, Huffman MD
Cochrane Database Syst Rev 2015 Oct 7;(10):CD011168. doi: 10.1002/14651858.CD011168.pub2. PMID: 26445202
Letsas KP, Liu T, Shao Q, Korantzopoulos P, Giannopoulos G, Vlachos K, Georgopoulos S, Trikas A, Efremidis M, Deftereos S, Sideris A
Am J Cardiol 2015 Jul 1;116(1):98-103. Epub 2015 Apr 8 doi: 10.1016/j.amjcard.2015.03.044. PMID: 25933735
Postema PG, Wolpert C, Amin AS, Probst V, Borggrefe M, Roden DM, Priori SG, Tan HL, Hiraoka M, Brugada J, Wilde AA
Heart Rhythm 2009 Sep;6(9):1335-41. Epub 2009 Jul 8 doi: 10.1016/j.hrthm.2009.07.002. PMID: 19716089Free PMC Article
Gehi AK, Duong TD, Metz LD, Gomes JA, Mehta D
J Cardiovasc Electrophysiol 2006 Jun;17(6):577-83. doi: 10.1111/j.1540-8167.2006.00455.x. PMID: 16836701

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