Study limitations
The small sample size and a low rate of LAE are important limitations to obtain robust conclusions in our cohort study for this rare disorder. Not all asymptomatic patients underwent EPS; therefore, a selection bias cannot be completely excluded. Genotype-phenotype association was studied in related subjects, also to analyze a higher number of patients, since there was a small amount of probands carrying SCN5A variants. We cannot exclude the causality findings of spontaneous type-1 BrS being associated with severe symptoms only when ECG pattern was defined in standard precordial leads position and these data need to be confirmed by other future studies aimed at this association. The mechanisms to explain this finding also deserve future considerations.
Group/Consortium Members: Author 11: Pedro Veronese, MD, PhD; Author 12: Ximena Ferrugem, MD; Author 13: Martina Pinheiro, MD; Author 14: Tan C. Wu, MD, PhD; Author 15: Muhieddine Omar Chork MD, Author 16: Cristiano Pisani, MD, PhD, Author 17: Gabriela Miana MD,; Author 18: Sissy L. Melo, MD, PhD; Author 19: Théo G. M. de Oliveira, BsC, MsC, Author 20: Carina A. Hardy, MD; Author 21: Martino Martinelli Filho, MD, PhD; Author 22: Carlos A. Pastore, MD, PhD; Author 23: Ludhmila A. Hajjar, MD, PhD; Author 24: Roberto Kalil Filho, MD, PhD;;