Genetics of cardiac arrhythmias

Abstract

The recognition of the genetic substrate underlying the inherited arrhythmia syndromes has provided remarkable insight into the molecular basis of cardiac electrophysiology, including the role of the various ion channels and mechanisms of arrhythmias. The availability of a genetic diagnostic test has added an important diagnostic tool, providing new opportunities for patient management such as early (presymptomatic) identification and treatment of individuals at risk of developing fatal arrhythmias. Studies into genotype–phenotype relationships, carried out mostly for the LQTS, have uncovered important gene specific aspects of disease and indicated that patient management must take the nature of the gene affected into consideration. Initial thoughts that the genetic dissection of these disorders would facilitate therapeutic management of these patients have, however, not been substantiated. On the contrary, the heterogeneous (genetic, pathophysiological) character of all primary arrhythmia syndromes precludes uniform treatment.