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Annual Review of Genomics and Human Genetics

Volume 23, 2022

The Genetics of Brugada Syndrome

Abstract

Brugada syndrome is a heritable channelopathy characterized by a peculiar electrocardiogram (ECG) pattern and increased risk of cardiac arrhythmias and sudden death. The arrhythmias originate because of an imbalance between the repolarizing and depolarizing currents that modulate the cardiac action potential. Even if an overt structural cardiomyopathy is not typical of Brugada syndrome, fibrosis and structural changes in the right ventricle contribute to a conduction slowing, which ultimately facilitates ventricular arrhythmias. Currently, Mendelian autosomal dominant transmission is detected in less than 25% of all clinical confirmed cases. Although 23 genes have been associated with the condition, only , encoding the cardiac sodium channel, is considered clinically actionable and disease causing. The limited monogenic inheritance has pointed toward new perspectives on the possible complex genetic architecture of the disease, involving polygenic inheritance and a polygenic risk score that can influence penetrance and risk stratification.

Keyword(s): arrhythmias, Brugada syndrome, genetics, polygenic risk score, sodium channel, sudden death
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/content/journals/10.1146/annurev-genom-112921-011200
2022-08-31
2024-05-17
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The Genetics of Brugada Syndrome
Annual Review of Genomics and Human Genetics 23, 255 (2022); https://doi.org/10.1146/annurev-genom-112921-011200
/content/journals/10.1146/annurev-genom-112921-011200
/content/journals/10.1146/annurev-genom-112921-011200
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  • Article Type: Review Article

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