Pregledni rad

Long QT syndrome — a cause of sudden death.

Maja Dembić ; Statens Serum Institut, Kopenhagen, Danska
Sandro Brusich ; Klinički bolnički centar Rijeka, Rijeka, Hrvatska
Paula Louise Hedley ; Faculty of Health Sciences, University of Stellenbosch, Cape Town, Južnoafrička Republika
Carin Pamela de Villiers ; Faculty of Health Sciences, University of Stellenbosch, Cape Town, Južnoafrička Republika
Zlatko Čubranić ; Klinički bolnički centar Rijeka, Rijeka, Hrvatska
Jorgen Kim Kanters ; University of Copenhagen, Kopenhagen, Danska
Luka Zaputović ; Klinički bolnički centar Rijeka, Rijeka, Hrvatska
Michael Christiansen ; Statens Serum Institut, Kopenhagen, Danska

Sažetak

Long QT syndrome (LQTS) is a primary arrhythmic disorder that may lead to the precipitation of torsades de pointe (TdP) and sudden death. Electrocardiogram (ECG) features include prolongation of the corrected QT interval and T-wave abnormalities. The genetic basis of LQTS identified to date includes thirteen susceptibility genes for LQTS: KCNQ1, KCNH2, SCN5A, ANK2, KCNE1, KCNE2, KCNJ2, CACNA1C, CAV3, SCN4B, AKAP9, SNTA1, and KCNJ5. Mutations in KCNQ1 are by far the most frequent genotype with nearly half of the patients carrying KCNQ1 mutations. These genes code for ion channels and regulatory proteins that are involved in the modulation of the currents of the cardiac action potential (AP). Acquired forms of LQTS may also have underlying genetic mutations, in these cases mutation carriers develop arrhythmias only under certain conditions (e.g. use of certain medications). Current therapies include use of beta-blockers, implantable cardioverter defibrillators (ICD) and left cardiac sympathetic denervation. LQTS mutations have been associated with sudden death in the young and very young; and postmortem genetic testing in LQTS genes can be useful when assessing the cause of a sudden unexplained death. Cascade screening is also useful to identify asymptomatic family members that may be at risk of sudden death. Here we have reviewed the genes associated with LQTS along with the description of the related pathophysiological mechanisms.

Ključne riječi

long QT sindrome; arrhythmia; sudden cardiac death

Hrčak ID:

94688

URI

https://hrcak.srce.hr/94688

Datum izdavanja:

4.12.2012.

Podaci na drugim jezicima: hrvatski

Posjeta: 4.526 *