Investigation of sudden arrhythmogenic cardiac deaths between 5-40 years in Turkish population in terms of genes associated wtih arrhytmia

Hereditary arrhythmogenic diseases are caused by mutations in genes that encode ion channels that create cardiac electrical conduction or in genes that encode proteins that regulate the functions of ion channels. This group of diseases is classified into four main groups as Long QT syndrome(LQT), Short QT Syndrome(SQT), Brugada Syndrome (BrS), Catecholaminergic Polymorphic Ventricular Tachycardia(CPVT). In this thesis study, it was aimed to detect mutations that can be associated with cardiac sudden deaths by detecting mutations belonging to the Turkish population, especially in patients with inherited cardiac channelopathy in the young population, and especially in patients with family history of sudden death and/or in patients brought to the clinic with cardiac arrest. For this purpose, blood samples were taken from 81 patients diagnosed with LQT, SQT, CPVT and Brugada Syndrome, and 15 healthy individuals, and next generation sequencing study was performed with the SeqCap EZ Solution-Based Enrichment strategy Sudden Cardiac Death panel (Roche NimbleGen Madison, Wisconsin, USA). 5 of the patients presented to the clinic with chest pain, of 22 syncope, of 23 palpitations, of 12 cardiac arrest. Sudden death was present in the family history of 16 of these patients. Among the variants obtained in the patient group, 22 different variants were detected in 30 different patients, previously associated with cardiac channelopathies and defined as pathogenic or possibly pathogenic on the Clinvar page. In addition to these variants, many not published variants, which has not been reported in the literature before, was detected in the remaining 51 patients. Key Words: Cardiac Channelopathies, Genomics, Next Generation Sequencing The present work was supported by the Research Fund of Istanbul University. Project No. 30819