Insights for Stratification of Risk in Brugada Syndrome

Iglesias, Daniel García; Rubín, José M.; Pérez, Diego; Morı́s, César; Calvo, David

doi:10.15420/ecr.2018.31.2

Cited by 13 publications

(6 citation statements)

References 45 publications

(59 reference statements)

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“…Malignant syncope in patients with spontaneous type 1 Brugada waves can lead to a high risk of SCD. In contrast, asymptomatic patients with spontaneous type 1 Brugada waves usually follow a benign clinical process [ 31 ]. The history of syncope is closely related to the increased risk of SCD, which is about four times higher than that of asymptomatic patients [ 32 , 33 ].…”

Section: Discussionmentioning

confidence: 99%

Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A

Zhu

Zhang

et al. 2022

Cardiology Research and Practice

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Background. Brugada syndrome is a hereditary cardiac disease associated with mutations in ion channel genes. The clinical features include ventricular fibrillation, syncope, and sudden cardiac death. A family with Brugada syndrome with sudden cardiac death was analyzed to locate the associated mutation in the SCN5A gene. Methods and Results. Three generations of a Han Chinese family with Brugada syndrome were recruited in the study; their clinical phenotype data were collected and DNA samples extracted from the peripheral blood. Next-generation sequencing was carried out in the proband, and candidate genes and mutations were screened using the full exon capture technique. The family members who participated in the survey were tested for possible mutations using Sanger sequencing. Six family members were diagnosed with Brugada syndrome, including four asymptomatic patients. A newly discovered heterozygous mutation in the proband was located in exon 25 of SCN5A (NM_000335.5) at c.4313dup(p.Trp1439ValfsTer32). Among the surviving family members, only those with a Brugada wave on their electrocardiogram carried the c.4313dup(p.Trp1439ValfsTer32) variant. Bioinformatics prediction revealed that the frameshift of the c.4313dup (p.Trp1439ValfsTer32) mutant led to a coding change of 32 amino acids, followed by a stop codon, resulting in a truncated protein product. Conclusion. The newly discovered mutation site c.4313dup(p.Trp1439ValfsTer32) in exon 25 of SCN5A may be the molecular genetic basis of the family with Brugada syndrome.

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Section: Discussionmentioning

confidence: 99%

Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A

Zhu

Zhang

et al. 2022

Cardiology Research and Practice

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“…This controversy involves how to manage asymptomatic patients whose chance of having an arrhythmic event is low, but SCD is still relatively common 34. The management of Brugada syndrome is complex, and clinicians are potentially unaware of the strategy for the prevention of SCD 35. The low appraisal ratings of the SRs supporting the recommendations for an already controversial topic are concerning.…”

Section: Discussionmentioning

confidence: 99%

Quality of reporting among systematic reviews underpinning the ESC/ACC guidelines on ventricular arrhythmias and sudden cardiac death

Garrett

Hightower

Walters

et al. 2022

BMJ EBM

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ObjectivesThe main objective of this study was to assess the methodological and reporting quality of the systematic reviews (SRs) supporting the European Society of Cardiology (ESC) and the American College of Cardiology (ACC) clinical practice guidelines (CPGs) recommendations for the management of patients with ventricular arrhythmias and sudden cardiac death (SCD). As a secondary objective, we sought to determine: (1) the proportion of Cochrane SRs were cited; and (2) whether Cochrane SRs scored higher on Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) and A Measurement Tool to Assess Systematic Reviews 2 (AMSTAR-2) appraisals.DesignCross-sectional analysis.Main outcome measuresWe searched for CPGs published by the ESC and the ACC from 2010 to 2020. We selected the CPGs for ventricular arrhythmias and the prevention of SCD. The reference sections were searched for SRs. Two independent investigators evaluated eligible SR using the PRISMA checklist and the AMSTAR-2 assessment tool.ResultsTwo CPGs for ventricular arrhythmia and SCD were included in this study. Fifty-five SRs were included in our analysis. Across all SRs, the mean PRISMA score was 0.70. The lowest scoring PRISMA item related to the presence of a pre-published protocol (item 5, score 0.17). Overall, 40% of included SRs were found to have ‘critically low’ AMSTAR-2 ratings. One of the lowest scoring items for AMSTAR-2 was reporting of sources of funding (item 10). The 4 Cochrane SRs that were included scored higher on both assessment tools than non-Cochrane studies, specifically in PRISMA overall completion (88.7% vs 69.7%).ConclusionOur study suggests the methodological and reporting quality of SRs used within ESC and ACC CPGs is insufficient, as demonstrated by the lack of adherence to both AMSTAR-2 and PRISMA checklists. Given the importance of CPGs on clinical decision making, and ultimately patient care, the methodological rigour and quality reporting within SRs used in CPGs should be held to the highest standard within the field of cardiology.

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“…For example, in BrS, approximately 20 pathogenic genes have been reported, but comprehensive single gene factors and polygenic factors still account for 60–80% of the causes unknown. In addition to fever, exercise, illness, and other factors, epigenetic factors have gradually attracted attention ( 150 – 152 ). Genetic research on diseases mainly focuses on the primary structure of DNA, i.e., when the DNA sequence changes, causing alterations in gene transcription and translation.…”

Section: Epigenetic Factors Of Ventricular Arrhythmias Without Struct...mentioning

confidence: 99%

The Genetics and Epigenetics of Ventricular Arrhythmias in Patients Without Structural Heart Disease

Wang

2022

Front. Cardiovasc. Med.

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Ventricular arrhythmia without structural heart disease is an arrhythmic disorder that occurs in structurally normal heart and no transient or reversible arrhythmia factors, such as electrolyte disorders and myocardial ischemia. Ventricular arrhythmias without structural heart disease can be induced by multiple factors, including genetics and environment, which involve different genetic and epigenetic regulation. Familial genetic analysis reveals that cardiac ion-channel disorder and dysfunctional calcium handling are two major causes of this type of heart disease. Genome-wide association studies have identified some genetic susceptibility loci associated with ventricular tachycardia and ventricular fibrillation, yet relatively few loci associated with no structural heart disease. The effects of epigenetics on the ventricular arrhythmias susceptibility genes, involving non-coding RNAs, DNA methylation and other regulatory mechanisms, are gradually being revealed. This article aims to review the knowledge of ventricular arrhythmia without structural heart disease in genetics, and summarizes the current state of epigenetic regulation.

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Insights for Stratification of Risk in Brugada Syndrome

Cited by 13 publications

References 45 publications

Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A

Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A

Quality of reporting among systematic reviews underpinning the ESC/ACC guidelines on ventricular arrhythmias and sudden cardiac death

The Genetics and Epigenetics of Ventricular Arrhythmias in Patients Without Structural Heart Disease

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