The molecular genetics of the congenital long QT syndromes.
During the past half decade, significant insight into the clinical electrocardiographic, and genetic features of the congenital long QT syndromes has emerged. Based on this foundation, recent linkage analysis studies have demonstrated the genetic heterogeneity of the Romano-Ward long QT syndrome and led to the discovery of two of the four (or more) responsible genes. Further functional characterization of these two genes, the HERG potassium channel and the SCN5A voltage-gated cardiac sodium channel, as well as the identification and characterization of the other long QT syndrome genes, may allow improved diagnosis and therapy for these disorders. Furthermore, the increased understanding of myocardial repolarization that is gained from characterization of these genes may lead to improved treatment for other ventricular arrhythmias, including those related to potassium-channel blockade, central nervous system insult, and, possibly, myocardial infarction.
Russell
M W
MW
Division of Pediatric Cardiology, University of Michigan, C.S. Mott Children's Hospital, Ann Arbor 49109-0204, USA.
Dick
M
M
D000818:Animals; D027682:Cation Transport Proteins; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D004268:DNA-Binding Proteins; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; D008040:Genetic Linkage; D006801:Humans; D008133:Long QT Syndrome / Q000151:congenital* / Q000235:genetics*; D009206:Myocardium / Q000166:cytology; D015221:Potassium Channels / Q000235:genetics; D024642:Potassium Channels, Voltage-Gated; D015534:Trans-Activators; D000071230:Transcriptional Regulator ERG
D027682:Cation Transport Proteins; D004268:DNA-Binding Proteins; C072312:ERG protein, human; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human; C092509:KCNH6 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D015534:Trans-Activators; D000071230:Transcriptional Regulator ERG