Article
[Sinus node dysfunction, Brugada syndrome and long QT syndrome affecting the same patient : when genetics can't make head or tail of it].
Revue medicale suisse - 3 Jun 2020
Porretta Alessandra Pia, Davoine Emeline, Superti-Furga Andrea, Bhuiyan Zahurul Alam, Domenichini Giulia, Herrera Siklody Claudia, Pascale Patrizio, Haddad Christelle, Schläpfer Jürg, Pruvot Étienne
Abstract excerpt
The gene SCN5A encodes the cardiac sodium channel which, through the conduction of Na+ current into the cell, generates the fast upstroke of the action potential of cardiomyocytes. Pathogenic variants of SCN5A have been causally associated to several hereditary cardiac diseases including, among others, Brugada syndrome, congenital long QT syndrome and sinus node dysfunction. Recently, overlap syndromes have been...
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