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patients affected by various arrhythmia syndromes, indicating the importance of ANK2 as the pathogenesis of arrhythmia syndromes in Asia.10 Initially, ANK2 was identified in 2003 as a causative gene in LQT syndrome, and the first gene encoding a protein other than ion channels.4 Mutations in ANK2 have also been associated with acquired LQT syndrome.5 The frequency of ANK2 mutations in LQT syndrome seems rare. Mutations in ANK2 have been identified in 8 out of 341 probands (2.3%) with LQT syndrome who were negative for mutations in 3 major genes: KCNQ1, KCNH2, and SCN5A.2,10 Because mutations in these 3 genes account for 60–70% of patients with congenital LQT syndrome, the estimated prevalence of ANK2 mutations in LQT syndrome is ~1%. In fact, screening of 855 patients with LQT syndrome identified 1 mutation in ANK2.11 That screening also identified 30 rare variants in ANK2 in which the pathogenesis was uncertain.11 Sinus node dysfunction often occurs in patients with LQT syndrome who carry an ANK2 mutation, and the prevalence of ANK2 mutations increases if patients have sinus node dysfunction.4 Actually, 3 out of 4 patients with congenital LQT syndrome had bradycardia in the study by Ichikawa et al.10 In addition to rare variants of ANK2 that can cause LQT syndrome, common variants of ANK2 modulate the QT interval in the general population.12 Mutations in ANK2 are associated with ventricular tachyarrhythmias in the absence of QT prolongation.13 Among patients with idiopathic ventricular fibrillation, a mutation in ANK2 ultiple causative genes for various inherited arrhythmia syndromes have been identified.1 Most of the genes encode ion channels and some genes are responsible for multiple arrhythmia syndromes because they are critical for normal cardiac function, especially cardiac electrophysiological activity. For example, sodium channels play an important role in the generation and propagation of electrical signals in the heart, and SCN5A encoding the predominant cardiac sodium channel α subunit is causative for various arrhythmia syndromes, including sinus node dysfunction, atrioventricular block, atrial fibrillation, long QT (LQT) syndrome, and Brugada syndrome (BrS).1,2

Rare Variants in <i>ANK2</i> Associated With Various Inherited Arrhythmia Syndromes