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August 7, 2023Molecular Genetics & Genomic MedicineOpen Access

SCN5A variants are linked to a ~332% higher risk of family history of SCD.

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Why the study?

A lack of knowledge regarding molecular characteristics and genotype-phenotype correlations interferes with risk stratification and optimal treatment of Brugada syndrome in Vietnam.

Does the presence of SCN5A variants correlate with a higher risk of adverse clinical phenotypes in Vietnamese patients with Brugada syndrome?

Population

117 Vietnamese probands with Brugada syndrome

Comparison

SCN5A (+) group vs SCN5A (-) individuals

Design

Cohort study

Key result

Carrying any SCN5A variant was associated with a significantly higher risk of a family history of sudden cardiac death (RR 4.324; 95% CI 2.290-8.269; p<0.001) compared to SCN5A-negative individuals.

Authors

HPHung PhamDDDuy Phuong DangTTThanh Dat Ta

Discussion

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Overview

SCN5A variants associated with higher SCD family history risk in Brugada syndrome; hypothesis-generating for risk stratification and needs prospective validation.

Study Design

Type

Observational (n=117)

Structured PICO

Does the presence of SCN5A variants correlate with a higher risk of adverse clinical phenotypes in Vietnamese patients with Brugada syndrome?

P
Population
117 Vietnamese probands with Brugada syndrome
I
Intervention
SCN5A genetic testing (Sanger sequencing and bioinformatic analysis)
C
Comparator
SCN5A (-) individuals
O
Outcome
Genotype-phenotype correlation (family history of sudden cardiac death, syncope, and ventricular tachycardia/ventricular fibrillation)

Main Result

Effect estimate: RR 4.324 (95% CI 2.290-8.269)

p-value: p=<0.001

In Vietnamese patients with Brugada syndrome, the presence of SCN5A variants is significantly associated with a higher risk of syncope, ventricular arrhythmias, and a family history of sudden cardiac death.

Limitations

  • Functional effects of the identified SCN5A variants on the severity of Brugada syndrome are not yet understood
  • Further follow-up studies need to be carried out to understand the functional effects of these SCN5A variants on the severity of BrS

Cite This Study

Pham et al. (2023) conducted an observational in Brugada syndrome (n=117). SCN5A variants vs. SCN5A (-) individuals was evaluated on Family history of sudden cardiac death (RR 4.324, 95% CI 2.290-8.269, p=<0.001). Carrying any SCN5A variant was associated with a significantly higher risk of a family history of sudden cardiac death (RR 4.324; 95% CI 2.290-8.269; p<0.001) compared to SCN5A-negative individuals.

synapsesocial.com/papers/6a122fa5a4bed3c7b166b867https://doi.org/10.1002/mgg3.2263
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