Long QT syndrome: cellular basis and arrhythmia mechanism in LQT2

J Cardiovasc Electrophysiol. 2000 Dec;11(12):1413-8. doi: 10.1046/j.1540-8167.2000.01413.x.


LQT2 is one form of the congenital long QT syndrome. It results from mutations in the human ether-a-go-go-related gene (HERG), and more than 80 mutations, usually causing single amino acid substitutions in the HERG protein, are known. HERG encodes the ion channel pore-forming subunit protein for the rapidly activating delayed rectifier K+ channel (I(Kr)) in the heart. This review summarizes current findings about mutations causing LQT2, the mechanisms by which mutations may cause the clinical phenotype of a reduction in I(Kr) and a prolonged QT interval, and how this may be involved in the generation of ventricular arrhythmias.

Publication types

  • Review

MeSH terms

  • Amino Acid Substitution
  • Arrhythmias, Cardiac / etiology
  • Arrhythmias, Cardiac / metabolism
  • Arrhythmias, Cardiac / physiopathology*
  • Arrhythmias, Cardiac / therapy
  • Cation Transport Proteins*
  • DNA-Binding Proteins*
  • ERG1 Potassium Channel
  • Ether-A-Go-Go Potassium Channels
  • Genes, Dominant
  • Humans
  • Long QT Syndrome / complications
  • Long QT Syndrome / genetics
  • Long QT Syndrome / physiopathology*
  • Long QT Syndrome / therapy
  • Mutation
  • Potassium / metabolism
  • Potassium Channels / genetics
  • Potassium Channels / metabolism
  • Potassium Channels, Voltage-Gated*
  • Protein Transport / genetics
  • Temperature
  • Trans-Activators*
  • Transcriptional Regulator ERG


  • Cation Transport Proteins
  • DNA-Binding Proteins
  • ERG protein, human
  • ERG1 Potassium Channel
  • Ether-A-Go-Go Potassium Channels
  • KCNH2 protein, human
  • KCNH6 protein, human
  • Potassium Channels
  • Potassium Channels, Voltage-Gated
  • Trans-Activators
  • Transcriptional Regulator ERG
  • Potassium