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Brugada Syndrome (BrS)

Brugada syndrome (BrS) is a genetic heart disorder due to abnormal ion channel function characterized by ST segment elevation on ECG (at leads V1-3) in the absence of structural heart disease. It is associated with increased risk for syncope (unexplained fainting), ventricular tachyarrhythmia and sudden cardiac death. Brugada syndrome is thought to be responsible for […]

Brugada syndrome (BrS) is a genetic heart disorder due to abnormal ion channel function characterized by ST segment elevation on ECG (at leads V1-3) in the absence of structural heart disease. It is associated with increased risk for syncope (unexplained fainting), ventricular tachyarrhythmia and sudden cardiac death. Brugada syndrome is thought to be responsible for 4-12% of unexpected sudden deaths and for up to 20% of all sudden death in individuals with an apparently normal heart. Brugada syndrome occurs worldwide and is estimated to affect 5 per 10,000 individuals of all ethnicities, with some regional differences. However, men are 8-10 times more likely than women to express symptoms of Brugada syndrome.

The diagnosis of BrS is based on clinical history, ECG findings and family history. Typically, the disorder manifests in patients between ages 20 to 40, but symptoms have been reported from infancy through late life. Most individuals with BrS are asymptomatic. The most common clinical symptoms are syncope and cardiac arrest that occur at rest, during sleep, or with high fever. Some patients with BrS have supraventricular arrhythmias. Some patients will develop symptoms of BrS after taking certain medications such as sodium channel blockers. BrS may be present even in the absence of any clinical symptoms and in some patients sudden cardiac death occurs without any preceding symptoms and without an identifiable cause at autopsy. Additionally, many symptoms of BrS are similar to other heart conditions that could account for either the ECG findings or syncope seen in patients and could be included in a differential diagnosis. These include arrhythmogenic right ventricular cardiomyopathy (ARVC), atypical right bundle branch block, left ventricular hypertrophy, early repolarization, acute myocardial infarction, and acute pericarditis.

Tests Available

BrS Sequencing and Del/Dup Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ABCC9 , CACNA1C, CACNB2, GPD1L, KCND3, KCNE3, KCNJ8, PKP2, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, TRPM4
Clinical Utility:
  • Confirmation of a clinical diagnosis in Risk assessment of asymptomatic family members of a proband with Brugada syndrome
  • Recurrence risk calculation
  • Differentiation of hereditary BrS from other acquired or genetic heart conditions
  • Prenatal diagnosis in families with a known mutation
Lab Method:
Exon Array CGH, Next-gen Sequencing

ORDERING

Test Code:
481
Turnaround Time:
4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL)

BILLING

CPT Codes:
81404x1, 81406x1, 81407x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Cardiology Billing Policy
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Brugada R, Campuzano O, Brugada P, et al. Brugada Syndrome. 2005 Mar 31 [Updated 2014 Apr 10]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1517/'Fowler et al. (2009) Current Opinion In Cardiology 24 (1):74-81 (PMID: 19102039)
  2. Hedley et al. (2009) Human Mutation 30 (9):1256-66 (PMID: 19606473)
  3. Fowler et al. (2009) Current Opinion In Cardiology 24 (1):74-81 (PMID: 19102039)
  4. Antzelevitch et al. (2002) Circ. Res. 91 (12):1114-8 (PMID: 12480811)
  5. Benito et al. (2008) J. Am. Coll. Cardiol. 52 (19):1567-73 (PMID: 19007594)
  6. Giudicessi et al. (2011) Heart Rhythm 8 (7):1024-32 (PMID: 21349352)
  7. Crotti et al. (2012) Journal Of The American College Of Cardiology 60 (15):1410-8 (PMID: 22840528)
  8. Cerrone et al. (2014) Circulation 129 (10):1092-103 (PMID: 24352520)
  9. Bezzina et al. (2013) Nature Genetics 45 (9):1044-9 (PMID: 23872634)
  10. Riuró et al. (2013) Hum. Mutat. 34 (7):961-6 (PMID: 23559163)
  11. Liu et al. (2013) Plo S One 8 (1):e54131 (PMID: 23382873)
  12. Hu et al. (2014) International Journal Of Cardiology 171 (3):431-42 (PMID: 24439875)

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