Please use this identifier to cite or link to this item: https://doi.org/10.1586/14737159.6.3.365
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dc.titleCongenital long QT syndromes: Clinical features, molecular genetics and genetic testing
dc.contributor.authorChing, C.-K.
dc.contributor.authorTan, E.-C.
dc.date.accessioned2014-11-26T07:50:26Z
dc.date.available2014-11-26T07:50:26Z
dc.date.issued2006
dc.identifier.citationChing, C.-K., Tan, E.-C. (2006). Congenital long QT syndromes: Clinical features, molecular genetics and genetic testing. Expert Review of Molecular Diagnostics 6 (3) : 365-374. ScholarBank@NUS Repository. https://doi.org/10.1586/14737159.6.3.365
dc.identifier.issn14737159
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/109832
dc.description.abstractCongenital long QT syndrome (LQTS) is a primary electrical disease characterized by a prolonged QT interval in the surface electrocardiogram and increased predisposition to a typical polymorphic ventricular tachycardia, termed Torsade de Pointes. Most patients with LQTS are asymptomatic and are diagnosed incidentally based on an electrocardiogram. Symptomatic patients may suffer from severe cardiac events, such as syncope and/or sudden cardiac death. Autosomal dominant forms are caused by heterozygous mutations in genes encoding the components of the ion channels. The autosomal recessive form with congenital deafness is also known as Jervell and Lang-Nielsen syndrome. It is caused by homozygous mutations or certain compound heterozygous mutations. Depending on the genetic defects, there are differences in the age of onset, severity of symptoms, and number of cardiac events and event triggers. With advances in gene technology, it is now feasible to perform genetic testing for LQTS, especially for those with family history. Identification of the mutation will lead to better management of symptoms and more targeted treatment, depending on the underlying genetic defect, resulting in a reduction of mortality and cardiac events. © 2006 Future Drugs Ltd.
dc.description.urihttp://libproxy1.nus.edu.sg/login?url=http://dx.doi.org/10.1586/14737159.6.3.365
dc.sourceScopus
dc.subjectCardiac arrhythmia
dc.subjectChannelopathy
dc.subjectGenetic testing
dc.subjectMutation
dc.subjectQT interval
dc.subjectSudden cardiac death
dc.typeReview
dc.contributor.departmentPSYCHOLOGICAL MEDICINE
dc.description.doi10.1586/14737159.6.3.365
dc.description.sourcetitleExpert Review of Molecular Diagnostics
dc.description.volume6
dc.description.issue3
dc.description.page365-374
dc.description.codenERMDC
dc.identifier.isiut000237916000009
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