The long QT syndrome family of cardiac ion channelopathies: a HuGE review

Genet Med. 2006 Mar;8(3):143-55. doi: 10.1097/01.gim.0000204468.85308.86.

Abstract

Long QT syndrome (LQTS) refers to a group of "channelopathies"-disorders that affect cardiac ion channels. The "family" concept of syndromes has been applied to the multiple LQTS genotypes, LQT1-8, which exhibit converging mechanisms leading to QT prolongation and slowed ventricular repolarization. The 470+ allelic mutations induce loss-of-function in the passage of mainly K+ ions, and gain-of-function in the passage of Na+ ions through their respective ion channels. Resultant early after depolarizations can lead to a polymorphic form of ventricular tachycardia known as torsade de pointes, resulting in syncope, sudden cardiac death, or near-death (i.e., cardiac arrest aborted either spontaneously or with external defibrillation). LQTS may be either congenital or acquired. The genetic epidemiology of both forms can vary with subpopulation depending on the allele, but as a whole, LQTS appears in every corner of the globe. Many polymorphisms, such as HERG P448R and A915V in Asians, and SCN5A S1102Y in African Americans, show racial-ethnic specificity. At least nine genetic polymorphisms may enhance susceptibility to drug-induced arrhythmia (an "acquired" form of LQTS). Studies have generally demonstrated greater QT prolongation and more severe outcomes among adult females. Gene-gene interactions, e.g., between SCN5A Q1077del mutations and the SCN5A H558B polymorphism, have been shown to seriously reduce ion channel current. While phenotypic ascertainment remains a mainstay in the clinical setting, SSCP and DHPLC-aided DNA sequencing are a standard part of mutational investigation, and direct sequencing on a limited basis is now commercially available for patient diagnosis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Forecasting
  • Gene Frequency
  • Genetic Testing
  • Humans
  • Ion Channels / genetics*
  • Ion Channels / physiopathology*
  • Long QT Syndrome / epidemiology
  • Long QT Syndrome / genetics*
  • Mutation
  • Polymorphism, Genetic
  • Polymorphism, Single-Stranded Conformational
  • Torsades de Pointes

Substances

  • Ion Channels