Article
SCN5A mutations in Brugada syndrome are associated with increased cardiac dimensions and reduced contractility.
PloS one - 1 Jan 2012
van Hoorn Frans, Campian Maria E, Spijkerboer Anje, Blom Marieke T, Planken R Nils, van Rossum Albert C, de Bakker Jacques M T, Wilde Arthur A M, Groenink Maarten, Tan Hanno L
Abstract excerpt
BACKGROUND: The cardiac sodium channel (Na(v)1.5) controls cardiac excitability. Accordingly, SCN5A mutations that result in loss-of-function of Na(v)1.5 are associated with various inherited arrhythmia syndromes that revolve around reduced cardiac excitability, most notably Brugada syndrome (BrS...
Topics
- Adult
- Brugada Syndrome
- Electrocardiography
- Female
- Heart Ventricles
- Humans
- Magnetic Resonance Imaging
- Male
- Middle Aged
- Mutation
- Myocardial Contraction
- NAV1.5 Voltage-Gated Sodium Channel