Sudden cardiac death in J wave syndrome with short QT associated to a novel mutation in Nav 1.8 coding gene SCN10A: First case report for a possible pharmacogenomic role

Sudden cardiac death is an important cause of mortality in the general population. It represents an important challenge for clinicians, often being the only symptom of a broad spectrum of cardiac pathologies and inherited heart conditions. Early repolarization syndrome and Brugada syndrome are part of the wider “J-wave” syndrome, which may also include the short QT syndrome as a third factor of an ionic channel imbalance in the arrhythmogenic landscape.

Source: Journal of Electrocardiology - June 9, 2018 Category: Cardiology Authors: Giuseppe Di Stolfo, Pietro Palumbo, Stefano Castellana, Sandra Mastroianno, Tommaso Biagini, Orazio Palumbo, Maria Pia Leone, Giovanni De Luca, Domenico Rosario Potenza, Tommaso Mazza, Aldo A. Russo, Massimo Carella Source Type: research