Update on Brugada Syndrome 2019

Coppola, Giuseppe; Corrado, Egle; Curnis, Antonio; Maglia, Giampiero; Oriente, Domenico; Mignano, Antonino; Brugada, Pedro

doi:10.1016/j.cpcardiol.2019.100454

Cited by 38 publications

(52 citation statements)

References 125 publications

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“…This review first highlighted the great genetic heterogeneity and complexity that characterizes the molecular basis of inherited channelopathies and cardiomyopathies related to SCD. This complexity imposes the need to refer to experts in the field of molecular cardiology, who can use the most advanced sequencing methods, such as NGS, to sequence multiple genes simultaneously, in the effort to reach the maximum genetic yield [ 57 , 61 , 75 , 76 , 88 , 95 , 100 , 101 ]. Another difficult issue is the interpretation of genetic variants in the context of SCD.…”

Section: Discussionmentioning

confidence: 99%

“…Advances in identifying the genes involved in BrS have allowed the use of genetic testing in clinical practice. Molecular genetic testing includes the SCN5A exonic coding region; however, a multi-gene NGS panel including genes which encode for sodium, potassium, and calcium channels, or proteins associated with these channels ( ABCC9 , ANK3 , CACNA1C , CACNA2D1 , CACNB2 , FGF12 , GPD1L , HCN4 , HEY2 , KCND2 , KCND3 , KCNE3 , KCNE5 , KCNH2 , KCNJ8 , LRRC10 , PKP2 , RANGRF , SCN1B , SCN2B , SCN3B , SCN5A , SCN10A , SEMA3A , SLMAP , and TRPM4 ) may be used to identify a pathogenic variant ( Table 1 ) [ 61 , 75 , 76 ]. About 500 pathogenic variations associated with BrS have been reported in these genes in the ClinVar database (ClinVar database, available online: , accessed on 26 August 2020).…”

Section: Genetic Basis Of Inherited Cardiac Channelopathiesmentioning

confidence: 99%

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The Hidden Fragility in the Heart of the Athletes: A Review of Genetic Biomarkers

Barretta

Mirra

Monda

et al. 2020

IJMS

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Sudden cardiac death (SCD) is a devastating event which can also affect people in apparent good health, such as young athletes. It is known that intense and continuous exercise along with a genetic background that predisposes a person to the risk of fatal arrhythmias is a trigger for SCD. Therefore, knowledge of the athlete’s genetic conditions underlying the onset of SCD must be extended, in order to develop new effective prevention and/or therapeutic strategies. Arrhythmic features occur across a broad spectrum of cardiac diseases, sometimes presenting with overlapping phenotypes. The genetic basis of arrhythmogenic disorders has been greatly highlighted in the last 30 years, and has shown marked heterogeneity. The advent of next-generation sequencing has constantly updated our understanding of the genetic basis of arrhythmogenic diseases and is laying the foundation for precision medicine. With the exception of a few clinical cases involving a single athlete showing a highly suspected phenotype for the presence of a heart disease, there are few studies to date that analysed the applicability of genetic testing on cohorts of athletes. This evidence shows that genetic testing can contribute to the diagnosis of up to 13% of athletes; however, the presence of clinical markers is essential. This review aims to provide a reference collection on current knowledge of the genetic basis of sudden cardiac death in athletes and to review updated evidence on the effectiveness of genetic testing in early identification of athletes at risk for SCD.

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Section: Discussionmentioning

confidence: 99%

Section: Genetic Basis Of Inherited Cardiac Channelopathiesmentioning

confidence: 99%

The Hidden Fragility in the Heart of the Athletes: A Review of Genetic Biomarkers

Barretta

Mirra

Monda

et al. 2020

IJMS

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“…BrS represents up to 20% of SCD in people with structurally normal hearts with a prevalence ranging from 1 in 5000 to 1 in 2000 [ 14 ]. It is more common in males [ 14 ].…”

Section: Introduction: Background and Terminologymentioning

confidence: 99%

“…BrS represents up to 20% of SCD in people with structurally normal hearts with a prevalence ranging from 1 in 5000 to 1 in 2000 [ 14 ]. It is more common in males [ 14 ]. Apart from SCD being a possible outcome of BrS, clinical manifestations include atrial fibrillation, atrioventricular block, and syncope [ 14 ].…”

Section: Introduction: Background and Terminologymentioning

confidence: 99%

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Pathogenesis and management of Brugada syndrome in schizophrenia: A scoping review

Rastogi

Viani-Walsh

Akbari

et al. 2020

General Hospital Psychiatry

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Context Excess cardiovascular morbidity and an increased prevalence of sudden cardiac death (SCD) contributes to premature mortality in schizophrenia. Brugada syndrome (BrS) is an important but underrecognized cause of SCD. It is more commonly seen in schizophrenia than in general population controls. Methods We conducted a scoping review to describe the pathogenesis of BrS in schizophrenia and to identify the psychotropic medications that increase the risk of unmasking BrS and associated ventricular arrhythmias resulting in SCD. Findings Schizophrenia and BrS share similar calcium channel abnormalities, which may result in aberrant myocardial conductivity. It remains uncertain if there is a genetic pre-disposition for BrS in a subset of patients with schizophrenia. However, the unmasking of Brugada ECG patterns with the use of certain antipsychotics and antidepressants increases the risk of precipitating SCD, independent of QT prolongation. Conclusions and future directions Specific cardiology assessment and interventions may be required for the congenital or unmasked Brugada ECG pattern in schizophrenia. The current long-term standard of care for BrS is an implantable cardioverter defibrillator (ICD), but post-implantation psychological effects must be considered. Careful use of antipsychotic and other psychotropic medications is necessary to minimize proarrhythmic effects due to impact on cardiac sodium and calcium ion channels. When prescribing such drugs to patients with schizophrenia, clinicians should be mindful of the potentially fatal unmasking of Brugada ECG patterns and how to manage it. We present recommendations for psychiatrists managing this patient population.

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