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

摘要

Introduction: 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.