Introduction Mutations of RyR2 gene encoding calcium channel of sarcoplazmatic reticulum are the cause of congenital catecholaminergic polymorphic ventricular tachycardia. The aim of this study was to test the hypothesis that RyR2 variants can increase occurrence of malignant arrhythmias in patients with structural heart diseases. Methods The investigated group consisted of 36 patients with structural heart diseases with ICD implanted who suffered arrhythmic storm. In the control group there were 141 patients with coronary artery disease who were hospitalized at our department owing to an acute coronary event and they were alive at least 3 years after the index event. Thus, they could be considered as a group with a low risk of sudden cardiac death. In all of them mutation analysis of RyR2 gene was performed. Results We detected 16 different sequence changes of RyR2 gene in both groups. None of the found nucleotide polymorphisms led to amino acid changes, were located close to splice sites or had any similarity to known splicing enhancer motifs. The occurrence of these variants was not different in both groups. Conclusions The prevalence of RyR2 gene variants was not different in cases versus controls suggesting a limited role of this gene in the arrhythmogenesis in structural heart disease patients.

• MeSH
• defibrilátory implantabilní využití   MeSH
• dilatační kardiomyopatie genetika   komplikace   MeSH
• fibrilace komor etiologie   genetika   MeSH
• financování organizované MeSH
• flutter komor etiologie   genetika   MeSH
• funkce levé komory srdeční genetika   MeSH
• genetická predispozice k nemoci genetika   MeSH
• genetické techniky využití   MeSH
• ischemická choroba srdeční genetika   komplikace   MeSH
• lidé MeSH
• metaanalýza jako téma MeSH
• mutační analýza DNA MeSH
• náhlá srdeční smrt etiologie   patologie   prevence a kontrola   MeSH
• retrospektivní studie MeSH
• rizikové faktory MeSH
• ryanodinový receptor vápníkového kanálu genetika   MeSH
• srdeční arytmie etiologie   genetika   klasifikace   MeSH
• statistika jako téma MeSH
• Check Tag
• lidé MeSH