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November 29, 2022Medical Principles and PracticeOpen Access

SCN5A mutations weakly predict malignant arrhythmias in Brugada syndrome but lack independent prognostic value.

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Why the study?

To ascertain whether patients with Brugada syndrome harboring SCN5A mutations have a more severe clinical phenotype and prognosis than those without SCN5A mutations.

Do SCN5A mutations predict a more severe clinical phenotype and prognosis in patients with Brugada syndrome compared to those without?

Population

Patients with Brugada syndrome

Comparison

Presence of SCN5A mutations vs absence of SCN5A mutations

Design

Comprehensive literature review

Key result

SCN5A mutations in Brugada syndrome weakly predict greater malignant arrhythmic event risk and electrophysiological abnormalities, but lack robust associations for independent risk stratification.

Authors

ADAndreea Valentina DeicaLPLivia Florentina PaduraruDPDan Nicolae Păduraru

Discussion

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Member takes

Overview

SCN5A testing should not guide Brugada risk stratification; leaves open whether larger prospective studies can establish independent prognostic value.

Structured PICO

Do SCN5A mutations predict a more severe clinical phenotype and prognosis in patients with Brugada syndrome compared to those without?

P
Population
Patients with Brugada syndrome (BrS)
I
Intervention
Presence of SCN5A mutations
C
Comparator
Absence of SCN5A mutations
O
Outcome
Clinical phenotype severity and prognosis (including electrophysiological abnormalities and malignant arrhythmic events)

While SCN5A mutations in Brugada syndrome are associated with greater electrophysiological abnormalities and weakly predict malignant arrhythmias, they are currently insufficient as independent risk stratification tools.

Cite This Study

Deica et al. (2022) conducted a review in Brugada syndrome. SCN5A mutations vs. Without SCN5A mutations was evaluated on Phenotype severity and prognosis. SCN5A mutations in Brugada syndrome weakly predict greater malignant arrhythmic event risk and electrophysiological abnormalities, but lack robust associations for independent risk stratification.

synapsesocial.com/papers/6a0cfaf8b31ab1d6e01e7495https://doi.org/10.1159/000528375
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Brugada syndrome with SCN5A mutations exhibits more pronounced electrophysiological defects and more severe prognosis: A meta‐analysis2019 · 30 citations
  2. 2Brugada syndrome genetics is associated with phenotype severity2020 · 107 citations
  3. 3In silico validation revealed the role of <scp><i>SCN5A</i></scp> mutations and their genotype–phenotype correlations in Brugada syndrome2023 · 3 citations
  4. 4A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome2012 · 18 citations
  5. 5Clinical Features of Brugada Syndrome Patients With SCN5A Variants2025