Functional Epicardial Conduction Disturbances Due to a SCN5A Variant Associated With Brugada Syndrome.

ABSTRACT:

Background

Brugada syndrome is a significant cause of sudden cardiac death (SCD), but the underlying mechanisms remain hypothetical.

Objectives

This study aimed to elucidate this knowledge gap through detailed ex vivo human heart studies.

Methods

A heart was obtained from a 15-year-old adolescent boy with normal electrocardiogram who experienced SCD. Postmortem genotyping was performed, and clinical examinations were done on first-degree relatives. The right ventricle was optically mapped, followed by high-field magnetic resonance imaging and histology. Connexin-43 and Na_V1.5 were localized by immunofluorescence, and RNA and protein expression levels were studied. HEK-293 cell surface biotinylation assays were performed to examine Na_V1.5 traffick

SUBMITTER: Renard E 

PROVIDER: S-EPMC10406612 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature