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Brugada syndrome 1(BRGDA1)

MedGen UID:
468523
Concept ID:
CN029323
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 ranges from two days to 85 years. 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]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Ramon Brugada  |  Oscar Campuzano  |  Pedro 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.  http://ghr.nlm.nih.gov/condition/brugada-syndrome

Professional guidelines

PubMed

ACMG Board of Directors
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. [Epub ahead of print] 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. [Epub ahead of print] PMID: 23788249Free PMC Article

Recent clinical studies

Etiology

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

Diagnosis

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. [Epub ahead of print] PMID: 15998675

Therapy

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

Prognosis

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

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