Article
Genotype-phenotype relationship and risk stratification in loss-of-function SCN5A mutation carriers.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc - 1 Sept 2018
Robyns Tomas, Nuyens Dieter, Vandenberk Bert, Kuiperi Cuno, Corveleyn Anniek, Breckpot Jeroen, Garweg Christophe, Ector Joris, Willems Rik
Abstract excerpt
INTRODUCTION: Loss-of-function (LoF) mutations in the SCN5A gene cause multiple phenotypes including Brugada Syndrome (BrS) and a diffuse cardiac conduction defect. Markers of increased risk for sudden cardiac death (SCD) in LoF SCN5A mutation carriers are ill defined. We hypothesized that late potentials and fragmented QRS would be more prevalent in SCN5A mutation carriers compared to SCN5A-negative BrS patients...
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