Congenital long QT syndrome is mainly caused by mutations in the KCNQ1, KCNH2 and SCN5A genes. The aim of this study was to investigate the prevalence of mutations in these three genes in patients with long QT syndrome or idiopathic ventricular fibrillation seen at our center. The study included nine patients with long QT syndrome and four with idiopathic ventricular fibrillation. The first-deg...

3 List of original publications 8 Abbreviations 9

Results: BAI scores (26.6 ± 11.8 vs. 3.4 ± 3.3, p< 0.001) and BDI scores (12.6 ± 4 vs. 3.7 ± 4.5, p< 0.001) were signifi cantly higher in the patient group compared to the controls. P wave dispersion (Pd) [50.0 ± 17.5 miliseconds (ms) vs. 23.4 ± 7.7 ms, p< 0.001] and mean QT dispersion (QTd) (50.5 ± 18.1 ms vs. 28.3 ± 11.4 ms, p< 0.001) signifi cantly increased in the GAD patient group compared...

BACKGROUND Accurate and precise QT interval measurement is very important for both regulatory and drug developmental decision making. These measurements are often made using a manual or semi-automated technique, and the associated variability necessitates sample sizes of around 50 to 70 subjects in thorough QT/QTc studies. The purpose of this study was to compare the reproducibility and precisi...

Patients suffering from the congenital Long-QT syndrome have been reported to react highly sensitive to the presence of β-adrenergic agents that are produced by the sympathetic nervous system. In this work we used an anisotropic and electrophysiologically heterogeneous insilico model to reproduce wedge experiments in which the Long-QT syndrome was induced pharmacologically. The integration of a...

The QT interval, apart from clinical implications is crucial for safety assessment of new drugs under development. A QTc prolongation of even 10 msec in a study group is a warning signal for a new drug. There are various issues involved in the measurement of the QT interval especially regarding the ending of the T wave and different morphological pattern of T-U complex. The other issue is signi...

The basic science of membrane channels has set in motion striking clinical results, especially in cardiology. The clinical phenotype of cardiac channelopathies is conspicuous; sudden death or cardiac arrest may be the initial presentation. The last 2 decades have changed the face of diagnosis and treatment of inherited channelopathies for families who have a high, and often unrecognized, likeli...