Analysis of the genetic substrate for familial nodal tachycardia in the Podkarpacie region

Project Title
Analiza genetycznego substratu dla rodzinnie występującego częstoskurczu węzłowego w regionie Podkarpacia.
Lead
Karol Deutsch
Project Objective

Recurrent nodal tachycardia (AVNRT) is one of the most common supraventricular arrhythmias (SVT) in the population and one of the most frequently ablated (approximately 1: 1,000 in the general population). Despite such a high frequency of AVNRT, only a few reports of a familial AVNRT-FAVNRT (familial AVNRT) occurrence have been published so far. The authors of these publications indicated the presence of FAVNRT most often in two family members with first-degree kinship. So far, data have been published in the form of original articles and abstract reports on a total of 41 families worldwide with confirmed FAVNRT. The population of FAVNRT patients from the Podkarpacie region presented by S. Stec and co-authors was the most numerous and accounted for up to 15% of FAVNRT among subsequent patients qualified for ablation procedures due to AVNRT. These observations prove the existence of a unique and the most numerous in the world population of FAVNRT families in the Podkarpacie region, and the sketched pedigrees and probability calculus prove the existence of a genetic basis for the occurrence of FAVNRT in this population. Research hypothesis: 1. Genetic factors are responsible for the occurrence of AVNRT in individuals with first or second degree relationships. 2. The frequency of AVNRT among family members with FAVNRT is higher than the frequency of AVNRT in the general population. Objectives of the study: 1. Keeping a registry of patients with FAVNRT occurring in the Podkarpacie region in order to accurately assess the clinical characteristics and occurrence of FAVNRT in this region of Poland. 2. Establishing the genetic basis for the occurrence of FAVNRT in the population of AVNRT patients for the first time in the world. 3. Determination of the influence of the genetic basis of FAVNRT on the mechanisms of AVNRT formation and the properties of the atrioventricular junction in the conduction of other cardiac arrhythmias.