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Brugada Syndrome

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Clinical Cardiogenetics

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Abstract

Brugada syndrome was firstly reported in 1992 as a familial entity characterized by ST-segment elevation in the right precordial leads in a structurally normal heart, leading to ventricular fibrillation and risk of sudden cardiac death. Currently, clinical diagnosis is based on a characteristic pattern in the electrocardiogram observed either spontaneously or induced during a pharmacological test. The prevalence varies among regions and ethnicities, affecting mostly adult males. The cause of the disease is a genetic alteration being SCN5A the main responsible gene. Several genes have been associated with the disease despite that, after a comprehensive genetic analysis, genetic alteration is identified only in nearly 35% of families. The main challenges are the management of patients and risk stratification, especially in asymptomatic individuals. The most effective therapy is an implantable cardiac defibrillator, while radiofrequency ablation has been recently reported as a potential new treatment. In 2016, a scoring system for diagnosis and risk stratification was proposed. This included electrocardiographic alterations, clinical findings, genetic basis, and family history.

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Authors and Affiliations

  1. Cardiovascular Genetics Centre, University of Girona-IDIBGI, Girona, Spain

    Oscar Campuzano & Ramon Brugada

  2. Medical Science Department, School of Medicine, University of Girona, Girona, Spain

    Oscar Campuzano & Ramon Brugada

  3. Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain

    Oscar Campuzano, Ramon Brugada & Josep Brugada

  4. Arrhythmia Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain

    Georgia Sarquella-Brugada & Josep Brugada

  5. Familial Cardiomyopathies Unit, Hospital Josep Trueta de Girona, Girona, Spain

    Ramon Brugada

  6. Arrhythmia Section, Cardiovascular Institute, Hospital Clinic, University of Barcelona, Barcelona, Catalonia, Spain

    Josep Brugada

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  1. Oscar Campuzano
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  2. Georgia Sarquella-Brugada
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  1. Consultant Cardiologist at the OLVG Hospital, Amsterdam, The Netherlands

    Hubert F. Baars

  2. Utrecht University, Utrecht, The Netherlands

    Pieter A. F. M. Doevendans

  3. Amsterdam University Medical Center, Amsterdam, The Netherlands

    Arjan C. Houweling

  4. University Medical Center Utrecht, Utrecht, The Netherlands

    J. Peter van Tintelen

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Campuzano, O., Sarquella-Brugada, G., Brugada, R., Brugada, J. (2020). Brugada Syndrome. In: Baars, H.F., Doevendans, P.A.F.M., Houweling, A.C., van Tintelen, J.P. (eds) Clinical Cardiogenetics. Springer, Cham. https://doi.org/10.1007/978-3-030-45457-9_14

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