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 - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue PLoS ONE Année : 2018

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

Résumé

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 shorten measurably with mexiletine.

Dates et versions

hal-02885639 , version 1 (30-06-2020)

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Citer

Jie Liu, Jason Bayer, Roozbeh Aschar-Sobbi, Marianne Wauchop, Danna Spears, et al.. 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, 2018, 13 (5), pp.e0197273. ⟨10.1371/journal.pone.0197273⟩. ⟨hal-02885639⟩
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