Article
Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect.
Journal of the American Heart Association - 5 Jul 2016
Veltmann Christian, Barajas-Martinez Hector, Wolpert Christian, Borggrefe Martin, Schimpf Rainer, Pfeiffer Ryan, Cáceres Gabriel, Burashnikov Elena, Antzelevitch Charles, Hu Dan
Abstract excerpt
BACKGROUND: Phenotypic overlap of type 3 long QT syndrome (LQT3), Brugada syndrome (BrS), cardiac conduction disease (CCD), and sinus node dysfunction (SND) is observed with SCN5A mutations. SCN5A-E1784K is the most common mutation associated with BrS and LQTS3. The present study examines the genotype-phenotype relationship in a large family carrying SCN5A-E1784K and SCN5A-H558R polymorphism. METHODS AND RESULTS:...
Topics
- Adolescent
- Adult
- Brugada Syndrome
- Cardiac Conduction System Disease
- Child
- Defibrillators, Implantable
- Disease Management
- Family
- Female
- Genotype
- Humans
- Long QT Syndrome
- Male