KCNE2 gene mutation and Brugada syndrome

Area of Science:

• Cardiovascular Genetics
• Molecular Cardiology
• Electrophysiology

Background:

• KCNE2 gene mutations are implicated in various cardiac channelopathies, including atrial fibrillation, long QT syndrome, Brugada syndrome, and sudden cardiac death.
• Brugada syndrome is a genetic disorder characterized by abnormal electrocardiogram (ECG) findings and an increased risk of ventricular arrhythmias.

Observation:

• A case of Brugada syndrome was identified in a patient carrying a heterozygous variant in the KCNE2 gene.
• The specific genetic variant identified was NM_172201.2:c.161T>C, resulting in a p.(Met54Thr, M54T) amino acid change.

Findings:

• The identified KCNE2 gene variant (M54T) is a novel heterozygous variant.
• A gain-of-function mechanism for the Ito current is proposed as the explanation for the observed Brugada ECG phenotype in this patient.

Implications:

• This case expands the spectrum of KCNE2 gene variants associated with Brugada syndrome.
• Understanding the functional consequences of KCNE2 variants is crucial for diagnosing and managing patients at risk of sudden cardiac death.