Article
Complex interactions in a novel SCN5A compound mutation associated with long QT and Brugada syndrome: Implications for Na+ channel blocking pharmacotherapy for de novo conduction disease.
PloS one - 1 Jan 2018
Liu Jie, Bayer Jason D, Aschar-Sobbi Roozbeh, Wauchop Marianne, Spears Danna, Gollob Michael, Vigmond Edward J, Tsushima Robert, Backx Peter H, Chauhan Vijay S
Abstract excerpt
BACKGROUND: The SCN5A mutation, P1332L, is linked to a malignant form of congenital long QT syndrome, type 3 (LQT3), and affected patients are highly responsive to the Na+ channel blocking drug, mexiletine. In contrast, A647D is an atypical SCN5A mutation causing Brugada syndrome. An asymptomatic male with both P1332L and A647D presented with varying P wave/QRS aberrancy and mild QTc prolongation which did not...
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