Genetics of long QT syndrome

David J. Tester, Michael J. Ackerman

Research output: Contribution to journalReview article

62 Scopus citations

Abstract

Long QT syndrome (LQTS) is a potentially life-threatening cardiac arrhythmia characterized by delayed myocardial repolarization that produces QT prolongation and increased risk for torsades des pointes (TdP)-triggered syncope, seizures, and sudden cardiac death (SCD) in an otherwise healthy young individual with a structurally normal heart. Currently, there are three major LQTS genes (KCNQ1, KCNH2, and SCN5A) that account for approximately 75% of the disorder. For the major LQTS genotypes, genotype-phenotype correlations have yielded gene-specific arrhythmogenic triggers, electrocardiogram (ECG) patterns, response to therapies, and intragenic and increasingly mutation-specific risk stratification. The 10 minor LQTS-susceptibility genes collectively account for less than 5% of LQTS cases. In addition, three atypical LQTS or multisystem syndromic disorders that have been associated with QT prolongation have been described, including ankyrin-B syndrome, Anderson-Tawil syndrome (ATS), and Timothy syndrome (TS). Genetic testing for LQTS is recommended in patients with either a strong clinical index of suspicion or persistent QT prolongation despite their asymptomatic state. However, genetic test results must be interpreted carefully.

Original languageEnglish (US)
Pages (from-to)29-33
Number of pages5
JournalMethodist DeBakey cardiovascular journal
Volume10
Issue number1
StatePublished - Jan 1 2014

    Fingerprint

Keywords

  • genetics
  • ion channel
  • long QT syndrome

ASJC Scopus subject areas

  • Medicine(all)

Cite this