Article
Hypokalaemia and bradycardia unmask the loss-of-function phenotype of a Brugada Syndrome SCN5A mutation.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology - 3 Feb 2026
Frosio Anthony, Marchese Procolo, Bertoli Giorgia, Molla David, Arici Martina, Bartolucci Chiara, Piantoni Chiara, Guidi Giulia, Bazzini Claudia, Benzoni Patrizia, Milanesi Raffaella, Fortunato Antonio, Grossi Pierfrancesco, Pianese Luigi, Wang Yi, Cappato Riccardo, Nardini Marco, Severi Stefano, Bucchi Annalisa, Rocchetti Marcella, Baruscotti Mirko
Abstract excerpt
AIMS: Loss-of-function (LOF) mutations of the cardiac Na+ channel (SCN5A) are causatively associated with the Brugada Syndrome (BrS). However, the onset of Ventricular Fibrillation (VF) is a rare event, and critical factors favouring the pathological phenotype remain often elusive. This study exp...
Topics
- Humans
- Brugada Syndrome
- Male
- NAV1.5 Voltage-Gated Sodium Channel
- Aged
- Hypokalemia
- Phenotype
- Bradycardia
- Action Potentials