FUNCTIONAL EFFECTS OF SCN5A CHANNEL MUTATIONS AND THE RISK OF LIFE-THREATENING EVENTS IN TYPE 3 LONG QT SYNDROME

LQT3 syndrome is caused by SCN5A mutations that prolong cardiac repolarization. SCN5A dysfunction can be due to increased sustained currents, but other mechanisms are also observed. We evaluated a possible association between ion-channel dysfunction, arrhythmic risk and response to treatment. We