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SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern

Laura Tonelli1, Cristina Balla2, Marianna Farnè1

  • 1Unit of Medical Genetics, Department of Medical Sciences and Department of Mother and Child, University Hospital S. Anna Ferrara, Ferrara.

Journal of Cardiovascular Medicine (Hagerstown, Md.)
|November 9, 2023
PubMed

Insights

The Shanghai Score System can help predict SCN5A mutations in Brugada syndrome (BrS) patients. Higher scores and specific ECG patterns indicate a higher likelihood of SCN5A mutations, guiding genetic testing.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Brugada syndrome (BrS) is an inherited arrhythmia linked to sudden cardiac death.
  • ECG abnormalities, specifically the type 1 pattern, are diagnostic hallmarks.
  • Identifying genetic causes, like SCN5A mutations, is crucial for risk stratification.

Purpose of the Study:

  • To evaluate the Shanghai Score System's ability to predict SCN5A mutations in BrS patients.
  • To correlate clinical and ECG findings with SCN5A mutation status.
  • To assess the utility of the Shanghai Score in routine clinical practice.

Main Methods:

  • A cohort of 125 BrS patients with type 1 ECG patterns was studied.
  • Clinical data, ECG parameters (PR, QRS intervals), and family history were collected.
  • Next-generation sequencing (NGS) was used to detect SCN5A mutations and the H558R polymorphism.

Main Results:

  • The Shanghai Score was significantly higher in patients with SCN5A mutations.
  • A spontaneous type 1 ECG pattern was more frequent in SCN5A-positive patients (81%).
  • Increased PR and QRS intervals were observed in the SCN5A+ group.

Conclusions:

  • The Shanghai Score System is a valuable tool for guiding genetic testing in BrS.
  • SCN5A mutations are a significant cause of conduction abnormalities in BrS.
  • The H558R polymorphism did not correlate with the Shanghai Score or SCN5A mutations.
Abstract

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