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Brugada Syndrome.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2005 Mar 31 [updated 2016 Nov 17].

Author information

1
Girona Institute of Biomedical Research (IDIBGI) and School of Medicine, University of Girona, Girona, Spain
2
Hospital Sant Joan de Deu, Barcelona, Spain
3
Free University of Brussels, Brussels, Belgium
4
Cardiovascular Institute, Hospital Clinic and University of Barcelona, Barcelona, Spain
5
Heart Institute of Nanchang University, Jiangxi, China

Excerpt

CLINICAL CHARACTERISTICS:

Brugada syndrome is characterized by cardiac conduction abnormalities (ST-segment abnormalities in leads V1-V3 on ECG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood although age at diagnosis may range from infancy to late adulthood. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS; death of a child during the first year of life without an identifiable cause) and the sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome.

DIAGNOSIS/TESTING:

Diagnosis is based on clinical findings and/or by the identification of a heterozygous (or hemizygous in the case of KCNE5 in a male) pathogenic variant in one of 23 genes: ABCC9, CACNA1C, CACNA2D1, CACNB2, FGF12, GPD1L, HCN4, KCND2, KCND3, KCNE5, KCNE3, KCNH2, KCNJ8, PKP2, RANGRF, SCN1B, SCN2B, SCN3B, SCN5A, SCN10A, SEMA3A, SLMAP, and TRPM4.

MANAGEMENT:

Treatment ofmanifestations: Implantable cardioverter defibrillator (ICD) in individuals with a history of syncope or cardiac arrest; isoproterenol for electrical storms. Prevention of primary manifestations: Quinidine (1-2 g daily). Treatment of asymptomatic individuals is controversial. Prevention of secondary complication: During surgery and in the postsurgical recovery period persons with Brugada syndrome should be monitored by ECG. Surveillance: ECG monitoring every one to two years for at-risk individuals with a family history of Brugada syndrome or who have a known pathogenic variant that can lead to Brugada syndrome. Agents/circumstances to avoid: High fever, anesthetics, antidepressant drugs, and antipsychotic drugs with sodium-blocking effects; class 1 C antiarrhythmic drugs (i.e., flecainide, propafenone) and class 1A agents (i.e., procainamide, disopyramide). Evaluation of relatives at risk: Identification of relatives at risk using ECG or (if the pathogenic variant in the family is known) molecular genetic testing enables use of preventive measures and avoidance of medications that can induce ventricular arrhythmias.

GENETIC COUNSELING:

In most cases Brugada syndrome is inherited in an autosomal dominant manner; the exception is KCNE5-related Brugada syndrome, which is inherited in an X-linked manner. Most individuals diagnosed with Brugada syndrome have an affected parent. The proportion of cases caused by a de novo pathogenic variant is estimated at 1%. Each child of an individual with autosomal dominant Brugada syndrome has a 50% chance of inheriting the pathogenic variant. Prenatal testing for pregnancies at increased risk is possible if the pathogenic variant in the family is known.

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