The pathophysiological mechanism underlying Brugada syndrome

Wilde, Arthur A.M.; Postema, Pieter G.; Diego, José M. Di; Viskin, Sami; Morita, Hiroshi; Fish, Jessica; Antzelevitch, Charles

doi:10.1016/j.yjmcc.2010.07.012

Cited by 313 publications

(218 citation statements)

References 80 publications

(111 reference statements)

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“…This study considered all BrS probands in our cohort independently from the presence of SCN5A mutations, according to the concept that patients should have common pathogenetic mechanisms underlying ST segment elevation. 45 As we did not include relatives, our cohort reflects the heterogeneity of a population referring to an arrhythmology department for various reasons (cardiac arrest, syncope, asymptomatic ECG alterations, family history for SCD), and it is thus not enriched for asymptomatic individuals identified only by intra-familiar genetic screening.…”

Section: Discussionmentioning

confidence: 99%

Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification

Sommariva¹,

Pappone

Boneschi³

et al. 2013

Eur J Hum Genet

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Brugada syndrome is an inherited arrhythmogenic disorder leading to sudden death predominantly in the 3-4 decade. To date the only reliable treatment is the implantation of a cardioverter defibrillator; however, better criteria for risk stratification are needed, especially for asymptomatic subjects. Brugada syndrome genetic bases have been only partially understood, accounting for o30% of patients, and have been poorly correlated with prognosis, preventing inclusion of genetic data in current guidelines. We designed an observational study to identify genetic markers for risk stratification of Brugada patients by exploratory statistical analysis. The presence of genetic variants, identified by SCN5A gene analysis and genotyping of 73 candidate polymorphisms, was correlated with the occurrence of major arrhythmic events in a cohort of 92 Brugada patients by allelic association and survival analysis. In all, 18 mutations were identified in the SCN5A gene, including 5 novel, and statistical analysis indicated that mutation carriers had a significantly increased risk of major arrhythmic events (P ¼ 0.024). In addition, we established association of five polymorphisms with major arrhythmic events occurrence and consequently elaborated a pilot risk stratification algorithm by calculating a weighted genetic risk score, including the associated polymorphisms and the presence of SCN5A mutation as function of their odds ratio. This study correlates for the first time the presence of genetic variants with increased arrhythmic risk in Brugada patients, representing a first step towards the design of a new risk stratification model.

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Section: Discussionmentioning

confidence: 99%

Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification

Sommariva¹,

Pappone

Boneschi³

et al. 2013

Eur J Hum Genet

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“…The pathophysiological mechanisms remain to be clarified and it has been proposed that several key players, including genetic predisposition, are needed to induce the BrS phenotype. So far, two mechanisms have been proposed as responsible for ST elevation identified in the ECG, the repolarization and depolarization theories, despite none have been conclusively confirmed [13]. Repolarization theory [14] focuses on disequilibrium between I Na and I to .…”

Section: Molecular Mechanismsmentioning

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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“…Электрофизиологические основы, явля-ющиеся причинами ЭКГ-проявлений и склонности к на-рушениям ритма, остаются предметом для дискуссий [6].…”

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The role of cardiologist and surgeon in the treatment of patients with Brugada syndrome

Chaikovskaya¹,

Fetisova²,

Yakovleva³

et al. 2016

Kardiol. serdechno-sosud. khir.

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The pathophysiological mechanism underlying Brugada syndrome

Abstract: This Point/Counterpoint presents a scholarly debate of the mechanisms underlying the electrocardiographic and arrhythmic manifestations of Brugada syndrome (BrS), exploring in detail the available evidence in support of the repolarization vs. depolarization hypothesis.

Cited by 313 publications

References 80 publications

Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification

Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification

Genetic Basis of Brugada Syndrome

The role of cardiologist and surgeon in the treatment of patients with Brugada syndrome

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