Cardiac arrhythmias secondary to hereditary genetic disorders are increasingly recognized as a cause for sudden cardiac death in the general population. Mutations in a large number of genes encoding ion channels and proteins involved in cell-cell coupling have been identified in affected patient populations. Furthermore, genetic defects in other proteins directly or indirectly influencing cardiac electrophysiological properties have been shown to be involved. In-depth studies of the mechanisms underlying the observed electrophysiological abnormalities are often limited in patients carrying these mutations. Transgenic mouse models incorporating the genetic defect in question have been successful in studying genotype-phenotype correlations and have provided important insight into the underlying electrophysiological, biophysical, and molecular mechanisms. In this Research Topic Issue, an overview is presented of the knowledge and insight obtained from various transgenic models of cardiac electrophysiology so far, and how further research in this field may be of additional benefit for the future identification, risk-stratification, and treatment of patients with inherited cardiac arrhythmias and sudden death.
Cardiac arrhythmias secondary to hereditary genetic disorders are increasingly recognized as a cause for sudden cardiac death in the general population. Mutations in a large number of genes encoding ion channels and proteins involved in cell-cell coupling have been identified in affected patient populations. Furthermore, genetic defects in other proteins directly or indirectly influencing cardiac electrophysiological properties have been shown to be involved. In-depth studies of the mechanisms underlying the observed electrophysiological abnormalities are often limited in patients carrying these mutations. Transgenic mouse models incorporating the genetic defect in question have been successful in studying genotype-phenotype correlations and have provided important insight into the underlying electrophysiological, biophysical, and molecular mechanisms. In this Research Topic Issue, an overview is presented of the knowledge and insight obtained from various transgenic models of cardiac electrophysiology so far, and how further research in this field may be of additional benefit for the future identification, risk-stratification, and treatment of patients with inherited cardiac arrhythmias and sudden death.