Mutation analysis of RyR2 gene in patients after arrhythmic storm

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Publikace nespadá pod Fakultu sportovních studií, ale pod Lékařskou fakultu. Oficiální stránka publikace je na webu muni.cz.
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ANDRŠOVÁ Irena NOVOTNÝ Tomáš VALÁŠKOVÁ Iveta KADLECOVÁ Jitka KUDEROVÁ D. SEPŠI Milan KOZÁK Milan KŘIVAN M. GAILLYOVÁ Renata ŠPINAR Jindřich

Rok publikování 2012
Druh Článek v odborném periodiku
Časopis / Zdroj Cor et Vasa
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
www http://www.sciencedirect.com/science/article/pii/S0010865012000367#
Doi http://dx.doi.org/10.1016/j.crvasa.2012.03.003
Obor Kardiovaskulární nemoci včetně kardiochirurgie
Klíčová slova Arrhythmic storm; Mutation analysis; RyR2 gene; Sudden cardiac death
Popis 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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