Clínica y genética en el síndrome de QT largo

Translated title of the contribution: Clinical and genetic characteristics of long QT syndrome

Argelia Medeiros-Domingo, Pedro Iturralde-Torres, Michael J. Ackerman

Research output: Contribution to journalReview article

52 Scopus citations

Abstract

Long QT syndrome (LQTS) is an arrhythmogenic ion channel disorder characterized by severely abnormal ventricular repolarization, which results in prolongation of the electrocardiographic QT interval. The condition is associated with sudden cardiac death due to malignant ventricular arrhythmias similar in form to the hallmark torsade de pointes. Eleven years after the identification of the principle cardiac channels involved in the condition, hundreds of mutations in, to date, 10 genes have been associated with the syndrome. Genetic investigations carried out up until the present have shown that, although the severe form of the disease is sporadic, there are a number of common polymorphisms in genes associated with the condition that may confer susceptibility to the development of torsade de pointes in some individuals, particularly when specific drugs are being administered. Moreover, some polymorphisms have been shown to have regulatory properties that either enhance or counteract a particular mutation's impact. Understanding of the molecular processes underlying the syndrome has enabled treatment to be optimized and has led to better survival among sufferers, thereby demonstrating a key correspondence between genotype, phenotype and therapy. Despite these developments, a quarter of patients do not have mutations in the genes identified to date. Consequently, LQTS continues to be an area of active research. This article contains a summary of the main clinical and genetic developments concerning the syndrome that have taken place during the last decade.

Translated title of the contributionClinical and genetic characteristics of long QT syndrome
Original languageSpanish
Pages (from-to)739-752
Number of pages14
JournalRevista Espanola de Cardiologia
Volume60
Issue number7
DOIs
StatePublished - Jul 2007

Keywords

  • Arrhythmias
  • Cardiac arrest
  • Gene mutation
  • Long QT syndrome
  • Sudden death
  • Syncope
  • Torsade de pointes

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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