Research project The Long QT Syndrome (LQTS) is an inherited potentially life-threatening condition caused by mutations in genes encoding cardiac ion channels. The defect ion channel function causes delayed repolarization associated with Torsade de Pointes that can deteriorate into ventricular fibrillation and ultimately sudden cardiac death.
The prevalence of LQTS has earlier been estimated to 1:4000 but more recent studies and our ongoing study indicate that the frequency of gene carriers seems to be much higher, 1:1000-2000. In the most common form of LQTS, arrhythmia is often associated with exercise or excitement. However, in spite of intensive research efforts, much of the phenotypic variability remains unexplained.
The general aim of this project is to prevent sudden cardiovascular death by investigating pathophysiological mechanisms and correlating genetic findings (genotype) to the observable characteristics (phenotype) of patients with LQTS.
Our present research has a multimodel approach .