Progress of Genomics in Cardiac Conduction and Rhythm Disorders

Abstract

Genes and genetic loci linked thus far to cardiac electrical function and arrhythmia have been primarily uncovered through numerous studies. The contribution of epigenetics to heart rhythm disorders has also recently been highlighted in common pathologies. This chapter provides an overview to recent progress of genomics in cardiac conduction and rhythm disorders, including long QT syndrome (LQTS), Brugada syndrome (BrS), short QT syndrome (SQT), catecholaminergic polymorphic ventricular tachycardias (CPVT), early repolarization syndrome (ERS), atrial fibrillation (AF), idiopathic ventricular fibrillation (IVF), progressive cardiac conduction defect (PCCD), and sick sinus syndrome (SSS). After a brief introduction of each disorder, the disease-associated implication of genetic variations will be illustrated comprehensively. It can be found that there is marked genotype heterogeneity and cardiac phenotype heterogeneity in this field. Finally, the impact of genetics on clinical management of cardiac conduction and rhythm disorders will be summarized, including elucidation of an individual’s genetic predisposition and personalized approaches to treatment.