Genetics of long-QT syndrome

J Hum Genet. 2016 Jan;61(1):51-5. doi: 10.1038/jhg.2015.74. Epub 2015 Jun 25.


Congenital long QT syndrome (LQTS) is an inherited arrhythmia syndrome characterized by a prolonged QT interval in the 12-lead ECG, torsades de pointes and not negligible prevalence of sudden cardiac death. The genetic testing plays an important role in the diagnosis of LQTS. A total of 15 genes have been reported for autosomal-dominant forms of Romano-Ward-type congenital LQTS and 2 genes for autosomal-recessive forms of the Jervell and Lange-Nielsen syndrome. In this review, we summarize the recent advances in genetics of LQTS and briefly describe forward perspectives of LQTS investigation.

Publication types

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

MeSH terms

  • Humans
  • Ion Channels / genetics
  • Long QT Syndrome / diagnosis
  • Long QT Syndrome / genetics*
  • Mutation


  • Ion Channels