Brugada syndrome with SCN5A mutations exhibits more pronounced electrophysiological defects and more severe prognosis: A meta-analysis.
Clin Genet
; 97(1): 198-208, 2020 01.
Article
en En
| MEDLINE
| ID: mdl-30963536
ABSTRACT
Whether the presence of SCN5A mutation is a predictor of BrS risk remains controversial, and patient selection bias may have weakened previous findings. Therefore, we performed this study to clarify the clinical characteristics and outcomes of BrS probands with SCN5A mutations. We systematically retrieved eligible studies published through October 2018. A total of 17 studies enrolling 1780 BrS patients were included. Overall, our results found that compared with BrS patients without SCN5A mutations, patients with SCN5A mutations exhibited a younger age at the onset of symptoms and higher rate of the spontaneous type-1 electrocardiogram pattern, more pronounced conduction or repolarization abnormalities, and increased atrial vulnerability. In addition, the presence of SCN5A mutations was associated with an elevated risk of major arrhythmic events in both Asian (odds ratio [OR] = 1.82, 95% confidence interval [CI] 1.07-3.11; P = .03) and Caucasian (OR = 2.24, 95% CI 1.02-4.90; P = .04) populations. In conclusions, patients with SCN5A mutations exhibit more pronounced electrophysiological defects and more severe prognosis. Clinicians should be cautious when utilizing genetic testing for risk stratification or treatment guidance before determining whether the causal relationship regarding SCN5A mutation status is an independent predictor of risk.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Predisposición Genética a la Enfermedad
/
Síndrome de Brugada
/
Canal de Sodio Activado por Voltaje NAV1.5
Tipo de estudio:
Diagnostic_studies
/
Guideline
/
Prognostic_studies
/
Systematic_reviews
Límite:
Humans
Idioma:
En
Año:
2020
Tipo del documento:
Article