Sudden cardiac death and genetic ion channelopathies: Long QT, Brugada, short QT, catecholaminergic polymorphic ventricular tachycardia, and idiopathic ventricular fibrillation

摘要

Sudden cardiac death is a common outcome of several cardiac disorders such as acute myocardial ischemia, myocardial infarction, and heart failure. However, =5% to 15% of cardiac arrest victims fail to show evidence of structural abnormalities at autopsy.1-3 In 1997, a panel of experts defined sudden death in the absence of an identifiable cause as idiopathic ventricular fibrillation (IVF): "IVF is the terminology that best acknowledges our current inability to identify a causal relationship between the clinical circumstance and the arrhythmia."4 In the same article, the requirements for the diagnosis of IVF were identified on the basis of the clinical tools available at the time. In 1992, using the phenotypes observed in the IVF registry, we advanced the hypothesis that IVF could be the manifestation of concealed forms of arrhythmogenic disorders5 exacerbated by appropriate triggers. A few years later, the discovery of the genes of long-QT syndrome (LQTS)6"8 and the detection of incomplete penetrance9 supported this early hypothesis.