The impact of recent advances in genetics in understanding disease mechanisms underlying the long QT syndromes

Stephen C Harmer, Andrew Tinker

Research output: Contribution to journalReview article (Academic Journal)peer-review

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Abstract

Long QT syndrome refers to a characteristic abnormality of the electrocardiogram and it is associated with a form of ventricular tachycardia known as torsade-de-pointes and sudden arrhythmic death. It can occur as part of a hereditary syndrome or can be acquired usually because of drug administration. Here we review recent genetic, molecular and cellular discoveries and outline how they have furthered our understanding of this disease. Specifically we focus on compound mutations, genome wide association studies of QT interval, modifier genes and the therapeutic implications of this recent work.

Original languageEnglish
Pages (from-to)679-93
Number of pages15
JournalBiological Chemistry
Volume397
Issue number7
Early online date23 Feb 2016
DOIs
Publication statusPublished - 1 Jul 2016

Keywords

  • Animals
  • Arrhythmias, Cardiac/complications
  • Humans
  • Induced Pluripotent Stem Cells/cytology
  • Long QT Syndrome/chemically induced
  • Mutation
  • Myocytes, Cardiac/metabolism

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