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Brugada syndrome 1(BRGDA1)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: BRGDA1; Right bundle branch block, ST segment elevation, and sudden death syndrome; SCN5A-Related Brugada Syndrome
Gene (location): SCN5A (3p22.2)
OMIM®: 601144

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]
Ramon Brugada  |  Oscar Campuzano  |  Georgia Sarquella-Brugada, et. al.   view full author information

Additional description

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.

Professional guidelines


ACMG Board of Directors.
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. PMID: 25356965
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics.
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. PMID: 23788249Free PMC Article
Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R, Hershberger RE, Judge DP, Le Marec H, McKenna WJ, Schulze-Bahr E, Semsarian C, Towbin JA, Watkins H, Wilde A, Wolpert C, Zipes DP; Heart Rhythm Society (HRS).; European Heart Rhythm Association (EHRA).
Europace 2011 Aug;13(8):1077-109. doi: 10.1093/europace/eur245. PMID: 21810866


Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Recent clinical studies


Fan K, Lee K, Lau CP
J Interv Card Electrophysiol 1999 Oct;3(3):239-45. PMID: 10490480


Abdelsayed M, Baruteau AE, Gibbs K, Sanatani S, Krahn AD, Probst V, Ruben PC
J Physiol 2017 Sep 15;595(18):6165-6186. Epub 2017 Aug 20 doi: 10.1113/JP274536. PMID: 28734073Free PMC Article
Sovari AA, Prasun MA, Kocheril AG
MedGenMed 2007 Sep 20;9(3):59. PMID: 18092065Free PMC Article
Tan HL, Hofman N, van Langen IM, van der Wal AC, Wilde AA
Circulation 2005 Jul 12;112(2):207-13. Epub 2005 Jul 5 doi: 10.1161/CIRCULATIONAHA.104.522581. PMID: 15998675


Stix G, Bella PD, Carbucicchio C, Schmidinger H
J Cardiovasc Electrophysiol 2000 May;11(5):516-21. PMID: 10826930


Fan K, Lee K, Lau CP
J Interv Card Electrophysiol 1999 Oct;3(3):239-45. PMID: 10490480

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