Mort subite cardiaque d'origine génétique

Sudden death is defined as an unexpected death due to a cardiac cause, which occurs within one hour after the onset of symptoms. Autopsy can provide evidence for an undiagnosed cardiac dilated or hypertrophic cardiomyopathy. In case of negative autopsy, the most presumable cause remains a genetically-determined malignant primary ventricular arrhythmia. Rhythmic sudden cardiac death is most frequently due to a channel disease without any structural heart disease. Primary ventricular arrhythmias include long QT syndrome, Brugada syndrome, short QT syndrome and Polymorphic Ventricular Tachycardia. The diagnosis of such syndromes relies upon specific ECG anomalies, personal history of family members, and eventually the results of echocardiography and drug challenge. For some of these diseases, morbid genes have been identified; this makes possible the management of pre symptomatic or undiagnosed family members by specialized multidisciplinary teams. Rescued sudden death exposes to a high risk of recurrence. In such patients, the automatic implantable defibrillator has dramatically improved survival.