Genetic Testing for Inheritable Cardiac Channelopathies

Abstract

Inheritable cardiac channelopathies (ICC) are defined as primary electrical disorders without identifiable cardiac structural abnormalities and are mostly encountered in young adults (under 40 years). Diagnosis of ICC is often established after the first symptoms such as recurrent palpitations and syncope or more dramatically after unexplained sudden cardiac death (SCD). In this context, familial clinical screening coupled with genetic testing are required to prevent additional (fatal) arrhythmia events in relatives. This review presents an update of the ICC-associated genes and proposes a screening hierarchy according to the phenotype. The impact of the new sequencing technologies on the genetic testing as well as on the patient management will be also discussed.