日本小児循環器学会雑誌 Pediatric Cardiology and Cardiac Surgery

Inherited arrhythmia defines a group of diseases caused by mutations on genes encoding for ion-channel proteins and proteins that regulate ion channels. In 1957, long-QT syndrome was first reported and described as an inherited arrhythmia. Currently, catecholaminergic polymorphic ventricular tachycardia, Brugada syndrome, short-QT syndrome, early repolarization syndrome, and progressive cardiac conduction disturbance are also considered to be inherited arrhythmias. Although inherited arrhythmia is a major cause of sudden cardiac death in young individuals, it can be prevented by earlier diagnosis and clinical management. Progress in genetic analysis has enabled the diagnosis of inherited arrhythmias in patients with syncope and/or cardiac arrest of unknown origin and facilitated more suitable management of inherited arrhythmias. Guidelines for diagnosis and management of inherited arrhythmias have recently been published by the Japanese Circulation Society. Here on the basis of the guidelines, I review inherited arrhythmias with a particular focus on long- and short-QT syndromes, catecholaminergic polymorphic ventricular tachycardia, and Brugada syndrome.