Article
Mutation location effect on severity of phenotype during exercise testing in type 1 long-QT syndrome: impact of transmembrane and C-loop location.
Journal of cardiovascular electrophysiology - 1 Sept 2013
Laksman Zachary W M, Hamilton Robert M, Chockalingam Priya, Ballantyne Emily, Stephenson Elizabeth A, Gross Gil J, Gula Lorne J, Klein George J, Wilde Arthur A M, Krahn Andrew D
Abstract excerpt
BACKGROUND: Targeted mutation site-specific differences have correlated C-loop missense mutations with worse outcomes and increased benefit of beta-blockers in LQT1. This observation has implicated the C-loop region as being mechanistically important in the altered response to sympathetic stimulation known to put patients with LQT1 at risk of syncope and sudden cardiac death. OBJECTIVE: The objective of this...
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