Brugada syndrome

Definition:

The Brugada syndrome (BRS) is an autosomal dominant genetic disorder that is characterised by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. Diagnosis is based on clinical findings. Mutations in nine genes (SCN5A, GPD1L, CACNA1C, CACNB2, SCN1B, KCNE3, SCN3B, HCN4, and KCND3) are known to cause BRS. In approximately 20% of the cases BRS is caused by mutations in the SCN5A gene, encoding the cardiac sodium channel.

References:

[1]. Barry London, et al. Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. Circulation. 2007 Nov 13;116(20):2260-8. [Content Brief]

[2]. Carlo Napolitano, et al. Brugada syndrome. Orphanet J Rare Dis. 2006 Sep 14;1:35. [Content Brief]

[3]. Charles Antzelevitch, et al. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation. 2007 Jan 30;115(4):442-9. [Content Brief]

[4]. Dan Hu, et al. A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. Circ Cardiovasc Genet. 2009 Jun;2(3):270-8. [Content Brief]

[5]. Eva Delpón, et al. Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome. Circ Arrhythm Electrophysiol. 2008 Aug;1(3):209-18. [Content Brief]

[6]. Hiroshi Watanabe, et al. Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J Clin Invest. 2008 Jun;118(6):2260-8. [Content Brief]

[7]. Jagadeesh K Kalavakunta, et al. Sudden cause of cardiac death-be aware of me: a case report and short review on brugada syndrome. Case Rep Med. 2010;2010:823490. [Content Brief]

[8]. John R Giudicessi, et al. Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death. Hum Mutat. 2012 Jun;33(6):989-97. [Content Brief]

[9]. Kazuo Ueda, et al. Role of HCN4 channel in preventing ventricular arrhythmia. J Hum Genet. 2009 Feb;54(2):115-21. [Content Brief]

[10]. P Brugada, et al. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report. J Am Coll Cardiol. 1992 Nov 15;20(6):1391-6. [Content Brief]

[11]. Q Chen, et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature. 1998 Mar 19;392(6673):293-6. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.