Molecular biology and the prolonged QT syndromes

Am J Med. 2001 Apr 1;110(5):385-98. doi: 10.1016/s0002-9343(00)00715-4.

Abstract

The prolonged QT syndromes are characterized by prolongation of the QT interval corrected for heart rate (QTc) on the surface electrocardiogram associated with T-wave abnormalities, relative bradycardia, and ventricular tachyarrhythmias, including polymorphic ventricular tachycardia and torsades de pointes. These patients tend to present with episodes of syncope, seizures, or sudden death typically triggered by exercise, emotion, noise, or, in some cases, sleep. These disorders of cardiac repolarization are commonly inherited, with the autosomal dominant form, Romano-Ward syndrome, most common. A rare autosomal recessive form associated with sensorineural deafness, Jervell and Lange-Nielsen syndrome, in which the cardiac disorder is autosomal dominant and deafness is a recessive trait, also occurs. The underlying genetic causes of these forms of prolonged QT interval syndromes are heterogeneous, with at least seven genes responsible for the clinical syndromes. All of the five genes identified to date encode ion channel proteins, suggesting this to be an ion channelopathy. In this review, the genetic basis of the prolonged QT interval syndromes will be discussed, genotype-phenotype correlations identified, and the approaches to genetic testing and treatments will be outlined.

Publication types

  • Review

MeSH terms

  • Action Potentials / genetics
  • Age Factors
  • Electrocardiography
  • Genetic Testing
  • Genotype
  • Heart Conduction System / metabolism
  • Humans
  • Long QT Syndrome / classification
  • Long QT Syndrome / diagnosis
  • Long QT Syndrome / epidemiology
  • Long QT Syndrome / genetics*
  • Long QT Syndrome / metabolism
  • Long QT Syndrome / physiopathology
  • Mutation*
  • Phenotype
  • Sex Factors