Brugada Syndrome 2012

Berne, Paola; Brugada, Josep

doi:10.1253/circj.cj-12-0717

Cited by 161 publications

(156 citation statements)

References 76 publications

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“…Recent evidence, however, has clearly demonstrated that family history has not been a reliable marker for high risk in patients affected by BrS 2. Moreover, the value of a family history of sudden death in BrS patients has been extensively investigated, and results in that family history of SCA are not predictive for future arrhythmic events 25, 26.…”

Section: Discussionmentioning

confidence: 99%

SCN5A Genetic Polymorphisms Associated With Increased Defibrillator Shocks in Brugada Syndrome

Makarawate

Chaosuwannakit

Vannaprasaht

et al. 2017

JAHA

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BackgroundBrugada syndrome (BrS) is an inherited primary arrhythmia disorder leading to sudden cardiac arrest. SCN5A, encoding the α‐subunit of the cardiac sodium channel (Nav1.5), is the most common pathogenic gene of BrS. An implantable cardioverter defibrillator (ICD) is the standard treatment for secondary prevention. This study aimed to evaluate association of the SCN5A variant with this cardiac conduction disturbance and appropriate ICD shock therapy in Thai symptomatic BrS patients with ICD implants.Methods and ResultsSymptomatic BrS patients diagnosed at university hospital were enrolled from 2008 to 2011. The primary outcome of the study was an appropriate ICD shock defined as having non‐pacing‐associated ICD shock after the occurrence of ventricular tachycardia or ventricular fibrillation. Associations between SCN5A polymorphisms, cardiac conduction disturbance, and potential confounding factors associated with appropriate ICD shock therapy were analyzed. All 40 symptomatic BrS patients (median age, 43 years) with ICD implantations were followed for 24 months. There were 16 patients (40%) who had the appropriate ICD shock therapy after ICD treatment. An independent factor associated with appropriate ICD shock therapy was SCN5A‐R1193Q with an adjusted hazard ratio of 10.550 (95% CI, 1.631–68.232).Conclusions SCN5A‐R1193Q is associated with cardiac conduction disturbances. It may be a genetic marker associated with ventricular arrhythmia leading to appropriate ICD shock therapy in symptomatic BrS patients with ICD treatment. Because of the small sample size of study population and the appropriate ICD shock outcome, further large studies are needed to confirm the results of this study.

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Section: Discussionmentioning

confidence: 99%

SCN5A Genetic Polymorphisms Associated With Increased Defibrillator Shocks in Brugada Syndrome

Makarawate

Chaosuwannakit

Vannaprasaht

et al. 2017

JAHA

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“…Because nearly 25% of drug-induced tests may result in a false-negative result, 15 a repeat test should be considered. 16 In a recent report, Conte et al 17 repeated ajmaline challenge in a cohort after puberty (older than age 16 years) who previously showed negative drug test (during childhood). They were able to unmask a BrS type I ECG in 23% of cases, suggesting a potential role for hormonal, autonomic, or epigenetic factors in the ECG response to ajmaline during childhood.…”

Section: Diagnostic Toolsmentioning

confidence: 99%

“…However, detection of the ECG pattern in asymptomatic individuals is not rare. 16 Presence of the spontaneous coved-type (type I) ECG pattern is a crucial indicator of potential arrhythmic events in asymptomatic patients. 20 There are some controversies in the treatment of BrS, especially when dealing with asymptomatic patients.…”

Section: Risk Stratificationmentioning

confidence: 99%

Brugada syndrome: clinical and genetic findings

Sarquella-Brugada

Campuzano

Arbelo

et al. 2016

Genetics in Medicine

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128

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Review ARticleMore than 20 years ago, eight individuals were resuscitated from sudden cardiac death (SCD) caused by documented ventricular fibrillation (VF); all showed a characteristic ST segment elevation in the right precordial leads and a structurally normal heart. 1 In 1996, the term "Brugada syndrome" (BrS) was used to describe what was previously known as "right bundle branch block, persistent ST segment elevation, and sudden death syndrome. " 2 A year later, BrS was reported to be the same disease as sudden unexplained nocturnal death syndrome (SUNDS). In other countries, BrS has different names: Lai Tai (Thailand), Pokkuri (Japan), and Bangungut (Philippines). Currently, the prevalence of BrS is estimated at ~3-5 in 10,000 people, and it is higher in young men of Southeast Asian origin. It is the main cause of death among young healthy men in Southeast Asia. 3 Recent reports suggest that BrS could be responsible for 4% of all SCD and up to 12% of sudden death in patients with structurally normal hearts. The clinical phenotype manifests in adulthood, at a mean age of 41 years, and it is 8-to 10-times more frequent in males. Frequently, sudden death can be the first manifestation of the disease. 4 In 1998, the genetic basis of BrS was established when the sodium channel protein type V subunit α gene (SCN5A), which encodes the α-subunit of the voltage-gated Na v 1.5 cardiac sodium channel responsible for regulating rapid sodium current (I Na ), was associated with the disease. 5 Currently, BrS is recognized as a rare, inherited cardiac channelopathy caused by an alteration of ionic currents that leads to ventricular arrhythmias and SCD. It is clinically characterized by ST segment elevation in leads V1-V3 of the electrocardiogram, but incomplete penetrance and variable expressivity confound the diagnosis. 6 Despite the identification of 18 associated genes, 65-70% of clinically diagnosed cases remain without an identifiable genetic cause. 4 CLINICAL DIAGNOSIS Diagnostic criteriaThe clinical diagnosis of BrS requires the identification of the ST segment elevation in the right precordial leads at baseline or after the use of sodium blockers. Three different electrocardiographic (ECG) patterns can be often observed in families with BrS: type I, which consists of a coved-type ST segment elevation greater than 2 mm followed by a descending negative T wave in at least two right precordial leads (V1 to V3); type II ST elevation, saddleback-shaped patterns with a high initial increase followed by an ST elevation greater than 2 mm; and saddleback-shaped patterns with a high initial increase followed by an ST elevation less than 2 mm (Figure 1). The second Brugada Consensus Report proposed that only type I is diagnostic for BrS 7 and, in 2013, it was proposed that a definitive diagnosis of BrS considers both spontaneous type I pattern and a provoked type I pattern (with a baseline type II or III pattern) in at least one right precordial lead (V1 or V2). 8 The diagnosis of BrS is currently accepted in those patients ...

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“…Three types of ECG patterns were described in BrS (Figure 1): the ECG type I is characterized by STsegment elevation followed by a negative T wave, with little or no isoelectric separation, with a 'coved morphology' [2]. This pattern may be spontaneous or induced by a pharmacological test using Class I AAD -antiarrhythmic drug-(Flecainide, Ajmaline, Procainamide, and Pilsicainide) [4]. Type II and type III are saddleback-shaped patterns, with a high initial augmentation followed by an ST elevation greater than 2 mm for type II and less than 2 mm for type III.…”

Section: Introductionmentioning

confidence: 99%

“…Thus, the BrS diagnostic pattern could be documented in only approximately 25% of the tracings. Some patients can suffer syncope or sudden cardiac death (SCD), secondary to polymorphic ventricular tachycardia (PVT)/ventricular fibrillation (VF) while other may remain completely asymptomatic [4]. It is believed to be responsible for 12% of SCD cases and approximately 20% of SCD in patients with structurally normal hearts [6].…”

Section: Introductionmentioning

confidence: 99%

Genetic Basis of Brugada Syndrome

Campuzano¹,

Allegue²,

Iglesias³

et al. 2013

J Genet Syndr Gene Ther

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Brugada syndrome is a rare cardiac disorder described as a clinical entity in 1992. It is characterized by typical electrocardiographic alteration in a structurally normal heart, and associated with a high risk of sudden cardiac death. Brugada syndrome affects mainly young adult males and patients can present a wide range of symptoms or even remain asymptomatic. The first genetic basis responsible for the syndrome was described in 1998 in SCN5A. Since then, several pathogenic mutations have been identified in 16 genes, encoding mainly subunits of cardiac sodium, potassium, and calcium channels, or genes involved in the trafficking/regulation of these channels. All these genes together are responsible for 35% of total cases, remaining 2/3 parts of Brugada syndrome cases without genetic cause identified. In this review, we focus on recent advances in genetics of Brugada Syndrome.

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Brugada Syndrome 2012

Cited by 161 publications

References 76 publications

SCN5A Genetic Polymorphisms Associated With Increased Defibrillator Shocks in Brugada Syndrome

SCN5A Genetic Polymorphisms Associated With Increased Defibrillator Shocks in Brugada Syndrome

Brugada syndrome: clinical and genetic findings

Genetic Basis of Brugada Syndrome

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