Clinical and genetic characteristics of long QT syndrome

Medeiros Domingo, Argelia; Iturralde-Torres, Pedro; Ackerman, Michael J. (2007). Clinical and genetic characteristics of long QT syndrome. Revista española de cardiología, 60(7), pp. 739-752. Elsevier

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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.

Item Type:

Journal Article (Review Article)

Division/Institute:

04 Faculty of Medicine > Department of Cardiovascular Disorders (DHGE) > Clinic of Cardiology

UniBE Contributor:

Medeiros Domingo, Argelia

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1579-2242

Publisher:

Elsevier

Language:

Español

Submitter:

Argelia Medeiros Domingo

Date Deposited:

13 Jun 2014 16:49

Last Modified:

13 Jun 2014 16:49

PubMed ID:

17663859

URI:

https://boris.unibe.ch/id/eprint/42287

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