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. 2023 Dec 1;24(12):864-870.
doi: 10.2459/JCM.0000000000001560. Epub 2023 Oct 30.

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

Laura Tonelli  1 , Cristina Balla  2 , Marianna Farnè  1 , Alice Margutti  1 , Eugenia Tiziana Maniscalchi  1 , Gaetano De Feo  1 , Assunta Di Domenico  2 , Martina De Raffele  2 , Antonio Percesepe  3   4 , Vera Uliana  3 , Valeria Barili  3 , Walter Serra  5 , Biagio Sassone  6 , Santo Virzì  6 , Elia De Maria  7 , Giulia Parmeggiani  8 , Gabriele Egidy Assenza  9 , Elena Biagini  9 , Vanda Parisi  9   10 , Mauro Biffi  9 , Valeria Carinci  11 , Enrica Perugini  11 , Paola Imbrici  12 , Alessandra Ferlini  1 , Matteo Bertini  2 , Rita Selvatici  1 , Francesca Gualandi  1
Affiliations

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

Laura Tonelli et al. J Cardiovasc Med (Hagerstown). .

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 (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.

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.

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References

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