Brugada Syndrome

23 genes

Brugada syndrome is a rare genetic entity caused by a malfunction in some cardiac ion channels, which predisposes to the development of ventricular arrhythmias. These arrhythmias can cause syncope, cardiac arrest or sudden death, often being the first manifestations of the disease at any age. Clinically, the entity is identified by a characteristic electrocardiographic pattern consisting of a ST segment elevation ?2 mm in more than one right precordial lead (V1-V3), gradually descending and followed by a negative T-wave. The prevalence of the disease in the general population is estimated in 5 in 10,000 individuals, although it could be higher. Its inheritance pattern is autosomal dominant.

BrugadaSyndrome Brugada Syndrome

  • Patients with electrocardiographic diagnosis of the syndrome (type 1 pattern), whether spontaneous or by stress test.
  • Patients under diagnostic suspicion: subjects with a personal or familiar history of sudden death, subjects with a history of syncope of unknown origin and subjects with ventricular fibrillation of unknown origin.
  • Relatives of patients with a genetic diagnosis of Brugada syndrome.
  • HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013.
  • Priori SG et al. Heart Rhythm. 2013 Dec;10(12):1932-63.
  • HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Ackerman MJ, Priori SG, et al. Europace. 2011 Aug;13(8):1077-109.
The probability of detecting a mutation likely causing the disease in a patient under suspicion of Brugada syndrome is approximately 30%.

Brugada Syndrome Panel

 

23 genes

The panel includes the main gene associated with the Brugada syndrome (SCN5A), as well as a group of genes with clinical and functional evidence of association with the entity. According to some series, around 5% of cases in which mutations in SCN5A are not identified can present mutations potentially associated with the syndrome in the group of genes additionally included in this panel.

SCN5A, SCN10A, ABCC9, ANK2, CACNA1C, CACNA2D1, CACNB2, GPD1L, HCN4, KCND3, KCNE1L, KCNE3, KCNJ8, PKP2, RANGRF, SCN1B, SCN2B, SCN3B, SLMAP, TRPM4, ANK3*, CACNA1D*, KCNH2*

Notes on Genes

Priority Genes: These genes include >70% of the mutations that have been previously associated with the development of the disease and/or their testing is recommended by the guidelines. Secondary genes: Other genes related to the disease. *Candidate genes: With no evidence, but likely to be related to the phenotype.