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Abstract
Brugada syndrome (BrS) is a clinical entity first described in 1992. BrS is characterized by ST-segment elevations in the right precordial leads and susceptibility to ventricular arrhythmias and sudden cardiac death. It affects young subjects, predominantly males, with structurally normal hearts. The prevalence varies with ethnicity ranging from 1:2,000 to 1:100,000 in different parts of the world. Today, hundreds of variants in 17 genes have been associated with BrS of which mutations in SCN5A, coding for the cardiac voltage-gated sodium channel, accounts for the vast majority. Despite this, approximately 70% of BrS cases cannot be explained genetically with the current knowledge. Moreover, the monogenic role of some of the variants previously described as being associated with BrS has been questioned by their occurrence in about 4% (1:23) of the general population as found in NHLBI GO Exome Sequencing Project (ESP) currently including approximately 6500 individuals. If we add the variants described in the five newest identified genes associated with BrS, they appear at an even higher prevalence in the ESP (1:21). The current standard treatment of BrS is an implantable cardioverter-defibrillator (ICD). The risk stratification and indications for ICD treatment are based on the ECG and on the clinical and family history. In this review we discuss the genetic basis of BrS.
Highlights
The Brugada syndrome (BrS) was first described as a clinical entity in 1992 (Brugada and Brugada, 1992)
Presently over 300 mutations in 17 genes have been associated with BrS or BrS ECG phenotype, in contrast to 5 years ago where only mutations in the SCNA5 gene were associated with BrS
The intention would be to use this knowledge in risk stratification, as some asymptomatic BrS patients have an appreciable risk of arrhythmia (Probst et al, 2010)
Summary
The Brugada syndrome (BrS) was first described as a clinical entity in 1992 (Brugada and Brugada, 1992). BrS1 IS ASSOCIATED WITH MUTATIONS IN SCN5A The SCN5A gene encodes the α-subunit of the voltage-dependent cardiac sodium channel, Nav1.5 (Gellens et al, 1992). They found that A280V-GPD1-L increased [NADH]i and that this increase in [NADH]i reduced INa. This suggests a link between metabolism and INa. BrS3 IS ASSOCIATED WITH MUTATIONS IN CACNA1C (SEE TABLE 2) This gene encodes the α-subunit of the human L-type voltage-gated calcium channel, Cav1.2 (Takimoto et al, 1997).
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