Case Report: Loss-of-Function Genetic Variant Associated With Ventricular Fibrillation.

Genetic variants in the gene, encoding the SUR2 auxiliary subunit from K channels, were previously linked with various inherited diseases. This wide range of congenital disorders includes multisystem and cardiovascular pathologies. The gain-of-function mutations result in Cantu syndrome, acromegaloid facial appearance, hypertrichosis, and acromegaloid facial features.

Functional Analysis of SCN5A Genetic Variants Associated with Brugada Syndrome.

Background: Brugada syndrome (BrS) is a rare inherited cardiac arrhythmia with increased risk of sudden cardiac death. Mutations in gene SCN5A, which encodes the α-subunit of cardiac voltage-gated sodium channel NaV1.5, have been identified in over 20% of patients with BrS.