Recent advances in genetic testing and counseling for inherited arrhythmias.

Abstract

Inherited arrhythmias, such as cardiomyopathies and cardiac ion channelopathies, along with coronary heart disease (CHD) are three most common disorders that predispose adults to sudden cardiac death. In the last three decades, causal genes in inherited arrhythmias have been successfully identified. At the same time, it has become evident that the genetic architectures are more complex than previously known. Recent advancements in DNA sequencing technology (next generation sequencing) have enabled us to study such complex genetic traits. This article discusses indications for genetic testing of patients with inherited arrhythmias. Further, it describes the benefits and challenges that we face in the era of next generation sequencing. Finally, it briefly discusses genetic counseling, in which a multidisciplinary approach is required due to the increased complexity of the genetic information related to inherited arrhythmias.

KEYWORDS:

ARVD/C, arrhythmogenic right ventricular dysplasia/cardiomyopathy; BrS, Brugada syndrome; CHD, coronary heart disease; CPVT, catecholaminergic polymorphic ventricular tachycardia; Cardiac ion channelopathies; Cardiomyopathies; DCM, dilated cardiomyopathy; GWAS, genome wide association study; Genetic counseling; Genetic testing; HCM, hypertrophic cardiomyopathy; HF, heart failure; ICD, implantable cardioverter defibrillator; Inherited arrhythmias; LQTS, long QT syndrome; NGS, next generation sequencing; SCD, sudden cardiac death; VA, ventricular arrhythmia; VF, ventricular fibrillation; WES, whole exome sequencing

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