Brugada Syndrome

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Inclusion criteria (clinical diagnosis)

Brugada syndrome diagnosed according to criteria*:

  • ST segment elevation with type I morphology >= 2 mm in >= 1 lead among the right precordial leads V1,V2 positioned in the 2nd, 3rd, or 4th intercostal space occurring spontaneously OR
  • Type I ECG morphology as above following a provocative drug test with intravenous administration of Class I antiarrhythmic drugs AND one of
    • A positive family history of young sudden death OR Brugada syndrome OR
    • Cardiac arrest with spontaneous type I ECG pattern, OR
    • Documented history of VF or polymorphic VT, OR
    • Syncope of likely arrhythmic cause, OR
    • Nocturnal agonal respiration

* Heart Rhythm Society/European Heart Rhythm Association

Individuals with severe or syndromic disease should be recruited according to standard guidance, typically as trios. Disease status of apparently unaffected participants should be determined according to standard clinical practice to detect cryptic disease. In other cases, unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.

Exclusion criteria (unclear diagnosis)

  • Unclear diagnosis or history suggestive of a non-genetic cause
  • Any Brugada syndrome mutation positive (if clearly pathogenic)

Prior genetic testing guidance

Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.

Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:


Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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