SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern.
Journal
Journal of cardiovascular medicine (Hagerstown, Md.)
ISSN: 1558-2035
Titre abrégé: J Cardiovasc Med (Hagerstown)
Pays: United States
ID NLM: 101259752
Informations de publication
Date de publication:
01 12 2023
01 12 2023
Historique:
medline:
10
11
2023
pubmed:
9
11
2023
entrez:
9
11
2023
Statut:
ppublish
Résumé
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. 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). 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 (P = 0.006) and QRS (P = 0.02) 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. 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.
Identifiants
pubmed: 37942788
doi: 10.2459/JCM.0000000000001560
pii: 01244665-202312000-00002
doi:
Substances chimiques
SCN5A protein, human
0
NAV1.5 Voltage-Gated Sodium Channel
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
864-870Informations de copyright
Copyright © 2023 Italian Federation of Cardiology - I.F.C. All rights reserved.
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