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Brugada syndrome(SUNDS; BRGDA1)

MedGen UID:
222975
Concept ID:
C1142166
Disease or Syndrome
Synonyms: Sudden unexpected nocturnal death syndrome; Sudden unexplained nocturnal death syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: 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
MedGen UID:
892334
Concept ID:
CN000007
Functional Concept
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
not inherited (Orphanet)
SNOMED CT: Brugada syndrome (418818005)
 
Related genes: SCN3B, GPD1L, HCN4, KCNE3, SCN5A, SCN1B, CACNB2, CACNA1C
OMIM®: 600163; 601144
OMIM® Phenotypic series: PS601144
Orphanet: ORPHA130

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 descriptions

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). Genetic Heterogeneity of Brugada Syndrome Brugada syndrome-2 (611777) is caused by mutation in the GPD1L gene (611778) on chromosome 3p22. Brugada syndrome-3 (611875) and Brugada syndrome-4 (611876), the phenotypes of which include a shortened QT interval on ECG, are caused by mutation in the CACNA1C gene (114205) on chromosome 12p13 and CACNB2 gene (600003) on chromosome 10p12, respectively. Brugada syndrome-5 (612838) is caused by mutation in the SCN1B gene (600235) on chromosome 19q13. Brugada syndrome-6 (613119) is caused by mutation in the KCNE3 gene (604433) on chromosome 11q13. Brugada syndrome-7 (613120) is caused by mutation in the SCN3B gene (608214) on chromosome 11q24. Brugada syndrome-8 (613123) is caused by mutation in the HCN4 gene (605206) on chromosome 15q24. Brugada syndrome-9 (616399) is caused by mutation in the KCND3 gene (605411) on chromosome 1p13. Antzelevitch et al. (2007) screened 82 consecutive probands with a clinical diagnosis of Brugada syndrome for mutations in 16 ion channel genes. Seven probands were found to have mutations in the CACNA1C (114205) or CACNB2 (600003) genes, including 3 Brugada probands with shortened QTc intervals (see 611875 and 611876). Fifteen percent of probands harbored a pathogenic mutation in the SCN5A gene. Delpon et al. (2008) screened 14 ion channel genes in 105 probands with Brugada syndrome and detected SCN5A mutations in 14.3%, CACNA1C mutations in 6.7%, and CACNB2 mutations in 4.8% of the probands. Hu et al. (2009) analyzed 9 'Brugada susceptibility' genes, including SCN5A, GPD1L (611778), CACNB2, CACNA1C, SCN1B (600235), KCNE2 (603796), KCNE3 (604433), KCNE4 (607775), and IRX5 (606195), as well as the sodium channel beta subunit SCN3B (608214), in 179 probands with Brugada syndrome; they noted that 129 (72.07%) of the probands were negative for mutation in all of the genes tested. Crotti et al. (2012) analyzed 12 Brugada syndrome susceptibility genes in 129 unrelated patients with possible or probable Brugada syndrome and identified SCN5A mutations in 21 (16.3%) of the patients; only 6 (4.6%) of the patients carried a mutation in 1 of the other 11 genes. In a cohort of 91 SCNA5-negative Brugada syndrome patients and 91 European controls from the 1000 Genomes Project database, Di Resta et al. (2015) analyzed 158 arrhythmia- and cardiac defect-associated genes. A significant enrichment in Brugada syndrome samples was found only for the DSG2 gene (125671), with 6 (6%) of 91 patients having a rare functional variant compared to none of the 91 controls (p = 0.029). In addition, borderline significance was detected for the MYH7 gene (160760) (5 patients versus 0 controls; p = 0.059). Analysis of phenotype correlations yielded statistical significance only between the presence of a DSG2 variant and syncope, documented ventricular tachycardia/fibrillation, and/or cardiac arrest (p = 0.034). Di Resta et al. (2015) noted the possible genetic overlap between different cardiac disorders, suggesting common pathogenetic pathways.  http://www.omim.org/entry/601144
From GHR
Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically, this disorder can lead to irregular heartbeats in the heart's lower chambers (ventricles), which is an abnormality called ventricular arrhythmia. If untreated, the irregular heartbeats can cause fainting (syncope), seizures, difficulty breathing, or sudden death. These complications typically occur when an affected person is resting or asleep.Brugada syndrome usually becomes apparent in adulthood, although it can develop any time throughout life. Signs and symptoms related to arrhythmias, including sudden death, can occur from early infancy to late adulthood. Sudden death typically occurs around age 40. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of death in babies younger than 1 year. SIDS is characterized by sudden and unexplained death, usually during sleep.Sudden unexplained nocturnal death syndrome (SUNDS) is a condition characterized by unexpected cardiac arrest in young adults, usually at night during sleep. This condition was originally described in Southeast Asian populations, where it is a major cause of death. Researchers have determined that SUNDS and Brugada syndrome are the same disorder.  https://ghr.nlm.nih.gov/condition/brugada-syndrome

Clinical features

Cardiac arrest
MedGen UID:
5456
Concept ID:
C0018790
Finding
The heart has an internal electrical system that controls the rhythm of the heartbeat. Problems can cause abnormal heart rhythms, called arrhythmias. There are many types of arrhythmia. During an arrhythmia, the heart can beat too fast, too slow, or it can stop beating. Sudden cardiac arrest (SCA) occurs when the heart develops an arrhythmia that causes it to stop beating. This is different than a heart attack, where the heart usually continues to beat but blood flow to the heart is blocked. . There are many possible causes of SCA. They include coronary heart disease, physical stress, and some inherited disorders. Sometimes there is no known cause for the SCA. Without medical attention, the person will die within a few minutes. People are less likely to die if they have early defibrillation. Defibrillation sends an electric shock to restore the heart rhythm to normal. You should give cardiopulmonary resuscitation (CPR) to a person having SCA until defibrillation can be done. If you have had an SCA, an implantable cardiac defibrillator (ICD) reduces the chance of dying from a second SCA. NIH: National Heart, Lung, and Blood Institute.
Ventricular fibrillation
MedGen UID:
368774
Concept ID:
C1962976
Pathologic Function
Cardiac arrest
MedGen UID:
5456
Concept ID:
C0018790
Finding
The heart has an internal electrical system that controls the rhythm of the heartbeat. Problems can cause abnormal heart rhythms, called arrhythmias. There are many types of arrhythmia. During an arrhythmia, the heart can beat too fast, too slow, or it can stop beating. Sudden cardiac arrest (SCA) occurs when the heart develops an arrhythmia that causes it to stop beating. This is different than a heart attack, where the heart usually continues to beat but blood flow to the heart is blocked. . There are many possible causes of SCA. They include coronary heart disease, physical stress, and some inherited disorders. Sometimes there is no known cause for the SCA. Without medical attention, the person will die within a few minutes. People are less likely to die if they have early defibrillation. Defibrillation sends an electric shock to restore the heart rhythm to normal. You should give cardiopulmonary resuscitation (CPR) to a person having SCA until defibrillation can be done. If you have had an SCA, an implantable cardiac defibrillator (ICD) reduces the chance of dying from a second SCA. NIH: National Heart, Lung, and Blood Institute.
Ventricular fibrillation
MedGen UID:
368774
Concept ID:
C1962976
Pathologic Function

Professional guidelines

PubMed

Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, Kannankeril P, Krahn A, Leenhardt A, Moss A, Schwartz PJ, Shimizu W, Tomaselli G, Tracy C; Document Reviewers., Ackerman M, Belhassen B, Estes NA 3rd, Fatkin D, Kalman J, Kaufman E, Kirchhof P, Schulze-Bahr E, Wolpert C, Vohra J, Refaat M, Etheridge SP, Campbell RM, Martin ET, Quek SC; Heart Rhythm Society.; European Heart Rhythm Association.; Asia Pacific Heart Rhythm Society.
Europace 2013 Oct;15(10):1389-406. Epub 2013 Aug 30 doi: 10.1093/europace/eut272. PMID: 23994779

Recent clinical studies

Etiology

Daidoji H, Arimoto T, Iwayama T, Ishigaki D, Hashimoto N, Kumagai Y, Nishiyama S, Takahashi H, Shishido T, Miyamoto T, Watanabe T, Kubota I
J Cardiol 2016 Mar;67(3):221-8. Epub 2015 Jun 6 doi: 10.1016/j.jjcc.2015.04.011. PMID: 26058546
Belhassen B, Rahkovich M, Michowitz Y, Glick A, Viskin S
Circ Arrhythm Electrophysiol 2015 Dec;8(6):1393-402. Epub 2015 Sep 9 doi: 10.1161/CIRCEP.115.003109. PMID: 26354972
Allegue C, Coll M, Mates J, Campuzano O, Iglesias A, Sobrino B, Brion M, Amigo J, Carracedo A, Brugada P, Brugada J, Brugada R
PLoS One 2015 Jul 31;10(7):e0133037. doi: 10.1371/journal.pone.0133037. PMID: 26230511Free PMC Article
Sieira J, Ciconte G, Conte G, Chierchia GB, de Asmundis C, Baltogiannis G, Di Giovanni G, Saitoh Y, Irfan G, Casado-Arroyo R, Julià J, La Meir M, Wellens F, Wauters K, Pappaert G, Brugada P
Circ Arrhythm Electrophysiol 2015 Oct;8(5):1144-50. Epub 2015 Jul 27 doi: 10.1161/CIRCEP.114.003044. PMID: 26215662
Masrur S, Memon S, Thompson PD
Clin Cardiol 2015 May;38(5):323-6. Epub 2015 May 8 doi: 10.1002/clc.22386. PMID: 25955277

Diagnosis

Brugada P
J Cardiol 2016 Mar;67(3):215-20. Epub 2015 Nov 25 doi: 10.1016/j.jjcc.2015.08.009. PMID: 26627541
Daidoji H, Arimoto T, Iwayama T, Ishigaki D, Hashimoto N, Kumagai Y, Nishiyama S, Takahashi H, Shishido T, Miyamoto T, Watanabe T, Kubota I
J Cardiol 2016 Mar;67(3):221-8. Epub 2015 Jun 6 doi: 10.1016/j.jjcc.2015.04.011. PMID: 26058546
Bissay V, Van Malderen SC, Keymolen K, Lissens W, Peeters U, Daneels D, Jansen AC, Pappaert G, Brugada P, De Keyser J, Van Dooren S
Eur J Hum Genet 2016 Mar;24(3):400-7. Epub 2015 Jun 3 doi: 10.1038/ejhg.2015.125. PMID: 26036855Free PMC Article
Belhassen B, Rahkovich M, Michowitz Y, Glick A, Viskin S
Circ Arrhythm Electrophysiol 2015 Dec;8(6):1393-402. Epub 2015 Sep 9 doi: 10.1161/CIRCEP.115.003109. PMID: 26354972
Allegue C, Coll M, Mates J, Campuzano O, Iglesias A, Sobrino B, Brion M, Amigo J, Carracedo A, Brugada P, Brugada J, Brugada R
PLoS One 2015 Jul 31;10(7):e0133037. doi: 10.1371/journal.pone.0133037. PMID: 26230511Free PMC Article

Therapy

Sroubek J, Probst V, Mazzanti A, Delise P, Hevia JC, Ohkubo K, Zorzi A, Champagne J, Kostopoulou A, Yin X, Napolitano C, Milan DJ, Wilde A, Sacher F, Borggrefe M, Ellinor PT, Theodorakis G, Nault I, Corrado D, Watanabe I, Antzelevitch C, Allocca G, Priori SG, Lubitz SA
Circulation 2016 Feb 16;133(7):622-30. Epub 2016 Jan 21 doi: 10.1161/CIRCULATIONAHA.115.017885. PMID: 26797467Free PMC Article
Belhassen B, Rahkovich M, Michowitz Y, Glick A, Viskin S
Circ Arrhythm Electrophysiol 2015 Dec;8(6):1393-402. Epub 2015 Sep 9 doi: 10.1161/CIRCEP.115.003109. PMID: 26354972
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
Kaneko Y, Horie M, Niwano S, Kusano KF, Takatsuki S, Kurita T, Mitsuhashi T, Nakajima T, Irie T, Hasegawa K, Noda T, Kamakura S, Aizawa Y, Yasuoka R, Torigoe K, Suzuki H, Ohe T, Shimizu A, Fukuda K, Kurabayashi M, Aizawa Y
Circ Arrhythm Electrophysiol 2014 Dec;7(6):1122-8. Epub 2014 Sep 14 doi: 10.1161/CIRCEP.114.001806. PMID: 25221333
Sacher F, Probst V, Maury P, Babuty D, Mansourati J, Komatsu Y, Marquie C, Rosa A, Diallo A, Cassagneau R, Loizeau C, Martins R, Field ME, Derval N, Miyazaki S, Denis A, Nogami A, Ritter P, Gourraud JB, Ploux S, Rollin A, Zemmoura A, Lamaison D, Bordachar P, Pierre B, Jaïs P, Pasquié JL, Hocini M, Legal F, Defaye P, Boveda S, Iesaka Y, Mabo P, Haïssaguerre M
Circulation 2013 Oct 15;128(16):1739-47. Epub 2013 Aug 30 doi: 10.1161/CIRCULATIONAHA.113.001941. PMID: 23995538

Prognosis

Daidoji H, Arimoto T, Iwayama T, Ishigaki D, Hashimoto N, Kumagai Y, Nishiyama S, Takahashi H, Shishido T, Miyamoto T, Watanabe T, Kubota I
J Cardiol 2016 Mar;67(3):221-8. Epub 2015 Jun 6 doi: 10.1016/j.jjcc.2015.04.011. PMID: 26058546
Bissay V, Van Malderen SC, Keymolen K, Lissens W, Peeters U, Daneels D, Jansen AC, Pappaert G, Brugada P, De Keyser J, Van Dooren S
Eur J Hum Genet 2016 Mar;24(3):400-7. Epub 2015 Jun 3 doi: 10.1038/ejhg.2015.125. PMID: 26036855Free PMC Article
Russo CR, Welch TD, Sangha RS, Greenberg ML
JAMA Intern Med 2015 Dec;175(12):1951-4. doi: 10.1001/jamainternmed.2015.5934. PMID: 26501938
Sieira J, Ciconte G, Conte G, Chierchia GB, de Asmundis C, Baltogiannis G, Di Giovanni G, Saitoh Y, Irfan G, Casado-Arroyo R, Julià J, La Meir M, Wellens F, Wauters K, Pappaert G, Brugada P
Circ Arrhythm Electrophysiol 2015 Oct;8(5):1144-50. Epub 2015 Jul 27 doi: 10.1161/CIRCEP.114.003044. PMID: 26215662
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

Clinical prediction guides

Sroubek J, Probst V, Mazzanti A, Delise P, Hevia JC, Ohkubo K, Zorzi A, Champagne J, Kostopoulou A, Yin X, Napolitano C, Milan DJ, Wilde A, Sacher F, Borggrefe M, Ellinor PT, Theodorakis G, Nault I, Corrado D, Watanabe I, Antzelevitch C, Allocca G, Priori SG, Lubitz SA
Circulation 2016 Feb 16;133(7):622-30. Epub 2016 Jan 21 doi: 10.1161/CIRCULATIONAHA.115.017885. PMID: 26797467Free 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: 25955277
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
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
Campuzano O, Berne P, Selga E, Allegue C, Iglesias A, Brugada J, Brugada R
Cardiol J 2014;21(2):121-7. Epub 2013 Oct 21 doi: 10.5603/CJ.a2013.0125. PMID: 24142675

Recent systematic reviews

Sroubek J, Probst V, Mazzanti A, Delise P, Hevia JC, Ohkubo K, Zorzi A, Champagne J, Kostopoulou A, Yin X, Napolitano C, Milan DJ, Wilde A, Sacher F, Borggrefe M, Ellinor PT, Theodorakis G, Nault I, Corrado D, Watanabe I, Antzelevitch C, Allocca G, Priori SG, Lubitz SA
Circulation 2016 Feb 16;133(7):622-30. Epub 2016 Jan 21 doi: 10.1161/CIRCULATIONAHA.115.017885. PMID: 26797467Free 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
Masrur S, Memon S, Thompson PD
Clin Cardiol 2015 May;38(5):323-6. Epub 2015 May 8 doi: 10.1002/clc.22386. PMID: 25955277
Awad SF, Barbosa-Barros R, Belem Lde S, Cavalcante CP, Riera AR, Garcia-Niebla J, Anselm DD, Baranchuk A
Ann Noninvasive Electrocardiol 2013 Sep;18(5):415-20. doi: 10.1111/anec.12082. PMID: 24047484
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

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