Heritability in a SCN5A-mutation founder population with increased female susceptibility to non-nocturnal ventricular tachyarrhythmia and sudden cardiac death.
Sign Up to like & getrecommendations! Published in 2017 at "Heart rhythm"
DOI: 10.1016/j.hrthm.2017.07.036
Abstract: BACKGROUND Heritable cardiac-sodium channel dysfunction is associated with various arrhythmia syndromes, some predisposing to ventricular fibrillation. Phenotypic diversity among carriers of identical-by-descent mutations is often remarkable, suggesting influences of genetic modifiers. OBJECTIVE The purpose of… read more here.
Keywords: heritability; founder population; scn5a mutation; mutation ... See more keywords
SCN5A mutation type and topology are associated with the risk of ventricular arrhythmia by sodium channel blockers.
Sign Up to like & getrecommendations! Published in 2018 at "International journal of cardiology"
DOI: 10.1016/j.ijcard.2017.09.010
Abstract: BACKGROUND Ventricular fibrillation in patients with Brugada syndrome (BrS) is often initiated by premature ventricular contractions (PVCs). Presence of SCN5A mutation increases the risk of PVCs upon exposure to sodium channel blockers (SCB) in patients… read more here.
Keywords: risk; topology; channel; scn5a mutation ... See more keywords
COMPOUND SCN5A MUTATION AND FGF12 VARIATION CAUSE BRUGADA SYNDROME
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DOI: 10.1016/s0735-1097(17)33721-x
Abstract: Background: Mutations in the voltage-gated sodium channel (SCN5A; Nav1.5) and its regulating genes, such as fibroblast growth factor 12 (FGF12), are linked to Brugada syndrome (BrS). The goal of this study is to identify additional… read more here.
Keywords: compound scn5a; mutation fgf12; fgf12 variation; brugada syndrome ... See more keywords
Brugada syndrome genetics is associated with phenotype severity
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DOI: 10.1093/eurheartj/ehaa942
Abstract: Abstract Aims Brugada syndrome (BrS) is associated with an increased risk of sudden cardiac death due to ventricular tachycardia/fibrillation (VT/VF) in young, otherwise healthy individuals. Despite SCN5A being the most commonly known mutated gene to… read more here.
Keywords: epicardial area; genetics associated; genetics; brugada syndrome ... See more keywords
Genotype–phenotype relationship and risk stratification in loss‐of‐function SCN5A mutation carriers
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DOI: 10.1111/anec.12548
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… read more here.
Keywords: loss function; risk; mutation carriers; scn5a mutation ... See more keywords
SCN5A mutation status increases the risk of major arrhythmic events in Asian populations with Brugada syndrome: systematic review and meta‐analysis
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Noninvasive Electrocardiology"
DOI: 10.1111/anec.12589
Abstract: Brugada syndrome (BrS) is an inherited arrhythmic disease linked to SCN5A mutations. It is controversial whether SCN5A mutation carriers possess a greater risk of major arrhythmic events (MAE). We examined the association of SCN5A mutations… read more here.
Keywords: major arrhythmic; arrhythmic events; brugada syndrome; scn5a mutation ... See more keywords
SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families
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DOI: 10.1161/circgen.120.002911
Abstract: Supplemental Digital Content is available in the text. Background: Brugada syndrome (BrS) is characterized by the type 1 Brugada ECG pattern. Pathogenic rare variants in SCN5A (mutations) are identified in 20% of BrS families in… read more here.
Keywords: brs; scn5a mutation; risk; phenotype ... See more keywords