Sudden death and ion channel disease: pathophysiology and implications for management

The underlying aetiology of sudden arrhythmic death syndrome is predominantly inherited cardiac disease, and 'channelopathies' (cardiac ion channel disease) are the most common detectable cause of death. This heterogeneous group includes Brugada syndrome, long QT syndrome and catecholaminergic polymorphic ventricular tachycardia. Common features include variable penetrance, sudden death due to ventricular arrhythmias, and the absence of structural heart disease. The understanding of cardiac ion channel disease has been revolutionised by genetics. At present, genotype contributes to risk stratification in Brugada syndrome, long QT syndrome and catecholaminergic polymorphic ventricular tachycardia, and the future promises management tailored to the genetic diagnosis.