Distinct Features of Probands With Early Repolarization and Brugada Syndromes Carrying SCN5A Pathogenic Variants.

ABSTRACT:

Background

Two major forms of inherited J-wave syndrome (JWS) are recognized: early repolarization syndrome (ERS) and Brugada syndrome (BrS).

Objectives

This study sought to assess the distinct features between patients with ERS and BrS carrying pathogenic variants in SCN5A.

Methods

Clinical evaluation and next-generation sequencing were performed in 262 probands with BrS and 104 with ERS. Nav1.5 and Kv4.3 channels were studied with the use of patch-clamp techniques. A computational model was used to investigate the protein structure.

Results

The SCN5A+ yield in ERS was significantly lower than in BrS (9.62% vs 22.90%; P = 0.004). Patients diagnosed with ERS displayed shorter QRS and QTc than patients with BrS. More than 2 pathogenic SCN5A variants were found i

SUBMITTER: Zhang ZH 

PROVIDER: S-EPMC9272763 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature