SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern.
J Cardiovasc Med (Hagerstown)
; 24(12): 864-870, 2023 12 01.
Article
em En
| MEDLINE
| ID: mdl-37942788
ABSTRACT
AIMS:
Brugada syndrome (BrS) is an inherited arrhythmic disease characterized by a coved ST-segment elevation in the right precordial electrocardiogram leads (type 1 ECG pattern) and is associated with a risk of malignant ventricular arrhythmias and sudden cardiac death. In order to assess the predictive value of the Shanghai Score System for the presence of a SCN5A mutation in clinical practice, we studied a cohort of 125 patients with spontaneous or fever/drug-induced BrS type 1 ECG pattern, variably associated with symptoms and a positive family history.METHODS:
The Shanghai Score System items were collected for each patient and PR and QRS complex intervals were measured. Patients were genotyped through a next-generation sequencing (NGS) custom panel for the presence of SCN5A mutations and the common SCN5A polymorphism (H558R).RESULTS:
The total Shanghai Score was higher in SCN5A+ patients than in SCN5A- patients. The 81% of SCN5A+ patients and the 100% of patients with a SCN5A truncating variant exhibit a spontaneous type 1 ECG pattern. A significant increase in PR (Pâ=â0.006) and QRS (Pâ=â0.02) was detected in the SCN5A+ group. The presence of the common H558R polymorphism did not significantly correlate with any of the items of the Shanghai Score, nor with the total score of the system.CONCLUSION:
Data from our study suggest the usefulness of Shanghai Score collection in clinical practice in order to maximize genetic test appropriateness. Our data further highlight SCN5A mutations as a cause of conduction impairment in BrS patients.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Brugada
Limite:
Humans
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article