Mutation analysis of RyR2 gene in patients after arrhythmic storm

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Authors

ANDRŠOVÁ Irena NOVOTNÝ Tomáš VALÁŠKOVÁ Iveta KADLECOVÁ Jitka KUDEROVÁ D. SEPŠI Milan KOZÁK Milan KŘIVAN M. GAILLYOVÁ Renata ŠPINAR Jindřich

Year of publication 2012
Type Article in Periodical
Magazine / Source Cor et Vasa
MU Faculty or unit

Faculty of Medicine

Citation
Web http://www.sciencedirect.com/science/article/pii/S0010865012000367#
Doi http://dx.doi.org/10.1016/j.crvasa.2012.03.003
Field Cardiovascular diseases incl. cardiosurgery
Keywords Arrhythmic storm; Mutation analysis; RyR2 gene; Sudden cardiac death
Description 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.
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