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Genotype–phenotype relationship and risk stratification in loss‐of‐function SCN5A mutation carriers

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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… Click to show full abstract

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 and evaluated risk markers for SCD in SCN5A mutation carriers.

Keywords: loss function; risk; mutation carriers; scn5a mutation

Journal Title: Annals of Noninvasive Electrocardiology
Year Published: 2018

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