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Discussion on Brugada syndrome genes.
Brugada Syndrome is a genetic disorder characterised by right bundle branch block pattern with ST segment elevation and T wave inversion in right precordial leads. Life threatening ventricular arrhythmias are the hallmark of Brugada Syndrome. The disorder was described by Brugada brothers (Pedro, Joseph, and Ramon) in 1992.
Later genetic defect was noted in the sodium channel gene SCN5A. Patients with Brugada syndrome may sometimes present with electrical storm. Medical treatment is generally unsatisfactory for Brugada syndrome. Drugs like quinidine and cilostazol have been useful in reducing the number of episodes of ventricular tachyarrhythmia.
Those with previous cardiac arrest, especially with a family history of sudden cardiac death need to be protected by an implantable cardioverter defibrillator.
Here is a typical Brugada syndrome ECG from our earlier publication.
Coming back to genes in Brugada syndrome, the first gene abnormality described in SCN5A gene has been designated as Brugada syndrome 1. BRGDA2 was described as defect in the GPD1L gene.
The genetic defect in BRGDA3 is localized to the calcium channel gene CACNA1C. BRGDA4 has an abnormality in another calcium channel gene CACNB2. BRGDA5 has sodium channel gene defect in SCN1B. Potassium channel KCNE3 is defective in BRGDA6.
Sodium channel SCN3B is defective in BRGDA7. HCN4 defect characterizes BRGDA8. Mutation in KCND3 has been designated as BRGDA9. This is the list of designated Brugada syndrome 1 to 9 from the OMIM database on NCBI.
But an article by Brugada R et al lists 23 genes.
