Channelopathies, genetic testing and risk stratification.
The cardiac channelopathies are a group of diseases with (disease-) specific electrocardiographic (ECG) characteristics and a disease-specific risk of sudden cardiac death (SCD). This group includes the Long QT Syndromes (LQTS), Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Brugada Syndrome (BrS), Short QT Syndromes (SQTS), and Early Repolarization Syndrome (ERS). In the past 2 decades the genetic basis for these disease entities has largely been unraveled and that, together with the identification of the genetic basis of the cardiomyopathies, has paved the way for the complete new field of Cardiogenetics. By virtue of the identification of the genetic underpinning of a given disease, presymptomatic carriers of the genetic aberrancy can be identified and timely treatment can be installed. In addition, it has become clear that the pathophysiological substrate of some diseases previously considered to be one disease is not identical, and this has led to gene-specific treatment in some and complete new treatment, based on the newly developed insight, in others. Finally, the genetic information proved to be important in the prediction of risk on lethal ventricular arrhythmias of affected individuals and that is the topic of this brief review.
Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands; Princess Al-Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia. Electronic address: a.a.wilde@amc.uva.nl.
Arthur A M
AAM
Wilde
Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: a.s.amin@amc.uva.nl.
Ahmad
A
Amin
D001145:Arrhythmias, Cardiac / Q000175:diagnosis / Q000235:genetics / Q000401:mortality; D053840:Brugada Syndrome / Q000175:diagnosis / Q000235:genetics / Q000401:mortality; D053447:Channelopathies / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality; D016757:Death, Sudden, Cardiac / Q000517:prevention & control*; D005820:Genetic Testing / Q000379:methods / Q000639:trends*; D006801:Humans; D008133:Long QT Syndrome / Q000175:diagnosis / Q000235:genetics / Q000401:mortality; D018570:Risk Assessment / Q000379:methods / Q000639:trends
BrS; CPVT; Channelopathy; ERS; LQTS; Risk stratification; SQTS