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Table of contents

Brugada syndrome

Background

Overview

Definition
BS is a genetic disorder characterized by a specific pattern on ECG and an increased risk of SCD due to ventricular arrhythmia.
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Pathophysiology
The pathophysiology of BS involves dysfunction of the cardiac sodium channels. Mutations in the SCN5A gene, which encodes the predominant cardiac sodium channel alpha subunit NaV1.5, have been identified in some patients with BS.
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Epidemiology
The incidence of BS in Japan is estimated at 14.2 per 100,000 person-years.
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Risk factors
Risk factors for BS include a family history of the syndrome and the presence of specific genetic mutations. The SCN5A gene is the most frequently mutated gene in BS.
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Disease course
The clinical course of BS can vary, but common symptoms include recurrent syncope, VF, and SCD. Some patients may remain asymptomatic, while others may experience symptoms such as unheralded syncope and nocturnal agonal respiration.
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Prognosis and risk of recurrence
The prognosis of BS is variable and depends on several factors. Patients who have experienced aborted SCD or syncope have a higher risk of future cardiac events, with annual event rates of 7.7% and 1.9%, respectively.
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Guidelines

Key sources

The following summarized guidelines for the evaluation and management of Brugada syndrome are prepared by our editorial team based on guidelines from the European Society of Cardiology (ESC 2022,2018), the American Heart Association (AHA/HRS/ACC 2018), the Asia Pacific Heart Rhythm Society (APHRS/EHRA/HRS 2013), and the European Heart Rhythm Association (EHRA/HRS 2011).
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Screening and diagnosis

Diagnosis: as per ESC 2022 guidelines, diagnose BS in patients with spontaneous type 1 Brugada ECG pattern and no other heart disease.
B
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Diagnostic investigations

Drug challenge testing: as per ESC 2022 guidelines, do not obtain sodium channel blocker testing in patients with a prior type 1 Brugada pattern.
D

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  • Genetic testing

Diagnostic procedures

Implantable loop recorder: as per ESC 2022 guidelines, consider implanting a loop recorder in patients with BS with unexplained syncope.
C

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  • Electrophysiology study

Medical management

Avoidance of aggravating factors: as per ESC 2022 guidelines, avoid using drugs likely to induce ST-segment elevation in right precordial leads in patients with BS.
D
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  • Watchful waiting

  • Quinidine

  • Isoproterenol infusion

Therapeutic procedures

ICD: as per ESC 2022 guidelines, perform ICD placement in patients with BS with a history of any of the following:
aborted cardiac arrest
documented spontaneous sustained VT.
B
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  • Catheter ablation