Brugada syndrome

Synonyms: BrS

Material:

EDTA blood
(1 ml)

TAT:

3-6 weeks

Method:

NGS, CNV, S-SEQ, MLPA

Overview

Brugada syndrome (BrS) is an autosomal dominant inherited heart disease and a major cause of sudden cardiac death in individuals with structurally normal hearts. It is characterised by a distinctive ST-segment elevation on the ECG and a tendency to develop life-threatening ventricular arrhythmias, particularly in men aged 30-40 years. SCN5A is the key gene implicated in Brugada syndrome, encoding a cardiac sodium channel. Although additional genes have been proposed in association with Brugada syndrome, current evidence is insufficient to demonstrate that these genes have a definitive disease‑causing role. Disease‑causing variants in SCN5A can be identified in approximately 20–30% of patients with Brugada syndrome.

Brugada syndrome

3 Gene(s)*

RRAD

SCN5A

TMEM168

Clinical description

Frequency

Causes

Inheritance

Diagnosis

Role of genetic testing

References

Created by

Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

Last Update : 24.09.2026

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