Screening

Screen all first-degree relatives of patients diagnosed with Brugada syndrome (BrS) or unexplained sudden cardiac death.[1][80]​ Be aware that familial screening is primarily done through clinical rather than genetic screening.[1]​ This is because:[1]

  • The presence of a pathogenic variant in a BrS susceptibility gene in isolation is not diagnostic for BrS

  • If a pathogenic variant is identified in a family, the penetrance is approximately 50%, and conversely family members who do not have the variant may still have BrS.

Clinical screening should include standard- and high-lead ECG testing and consideration of provocative drug testing with sodium channel blockade.[1][7]

  • For adult family members, screening does not usually need to be repeated if provocative sodium channel blockade testing is negative.[1]

  • Paediatric family members should undergo standard- and high-lead ECG screening at age 3 years.​[1] If this is negative, they should undergo additional screening every 3 years until age 15 years.[1] Provocative sodium channel blockade testing should not be used until they are age >15 years due to higher risk of adverse events compared with adults.[1] If provocative sodium channel blockade testing is negative in a person >15 years, screening does not need to be repeated.[1]

Arrange genetic testing in all patients with type 1 Brugada pattern on ECG (spontaneous or induced) to facilitate family screening.​[1][18][69]​[80]​ However, the presence of a susceptible gene mutation is not diagnostic of Brugada syndrome. This is in part due to only 50% penetrance of genetic variants. Clinical presentation remains central to diagnosing Brugada syndrome.[1]

  • Probable pathogenic mutation in a BrS susceptibility gene also scores 0.5 points on the Shanghai score (see Criteria).[1]

  • Mutations of many genes have been implicated in BrS, but only SCN5A gene variants are considered definitely disease-causing.[1][7]​​[80]​ However, identifiable SCN5A variants are only found in approximately 20% to 30% of patients with BrS.[1][7]​[16][17][18]​​

  • Mutations of other genes only account for around 2% to 5% of cases.[14][16][17]​​​[19]

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