Genetic Arrhythmia Syndromes

Two major clusters of genetic arrhythmia disorders are currently recognized. These include (1) the “channelopathies” or diseases caused by variants in ion channels and ion channel-controlling proteins and (2) the cardiomyopathies due to alterations in sarcomeric and cytoskeletal proteins. Some of these diseases have been recognized for more than six decades, but genetic discoveries beginning in the 1990s have contributed greatly to our understanding of not only the function of specific proteins in humans, but also the substrate for arrhythmia development in a wide variety of cardiovascular diseases. For example, discovery of the genes associated with congenital long QT syndrome (LQTS)Long QT syndrome (LQTS) has improved our understanding of the drug-induced long QT syndrome (Roden, N Engl J Med 350(10):1013–1022, 2004). Mechanisms underlying arrhythmogenesis in the rare channelopathy catecholaminergic polymorphic ventricular tachycardia (CPVT) may contribute to our understanding of arrhythmias in heart failure and muscular dystrophy (Faggioni and Knollmann, Am J Physiol Heart Circ Physiol 302(6):H1250–H1260, 2012). In this chapter, we describe the breadth of genetic arrhythmia disorders and their management in the young.