| ANDRŠOVÁ, Irena, Tomáš NOVOTNÝ, Iveta VALÁŠKOVÁ, Jitka KADLECOVÁ, D. KUDEROVÁ, Milan SEPŠI, Milan KOZÁK, M. KŘIVAN, Renata GAILLYOVÁ a Jindřich ŠPINAR. Mutation analysis of RyR2 gene in patients after arrhythmic storm. Cor et Vasa. Praha: Medical Tribune CZ, 2012, roč. 54, č. 2, s. E84-E87, 4 s. ISSN 0010-8650. Dostupné z: https://dx.doi.org/10.1016/j.crvasa.2012.03.003. |
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@article{1094566,
author = {Andršová, Irena and Novotný, Tomáš and Valášková, Iveta and Kadlecová, Jitka and Kuderová, D. and Sepši, Milan and Kozák, Milan and Křivan, M. and Gaillyová, Renata and Špinar, Jindřich},
article_location = {Praha},
article_number = {2},
doi = {http://dx.doi.org/10.1016/j.crvasa.2012.03.003},
keywords = {Arrhythmic storm; Mutation analysis; RyR2 gene; Sudden cardiac death},
language = {eng},
issn = {0010-8650},
journal = {Cor et Vasa},
title = {Mutation analysis of RyR2 gene in patients after arrhythmic storm},
url = {http://www.sciencedirect.com/science/article/pii/S0010865012000367#},
volume = {54},
year = {2012}
}
TY - JOUR
ID - 1094566
AU - Andršová, Irena - Novotný, Tomáš - Valášková, Iveta - Kadlecová, Jitka - Kuderová, D. - Sepši, Milan - Kozák, Milan - Křivan, M. - Gaillyová, Renata - Špinar, Jindřich
PY - 2012
TI - Mutation analysis of RyR2 gene in patients after arrhythmic storm
JF - Cor et Vasa
VL - 54
IS - 2
SP - E84-E87
EP - E84-E87
PB - Medical Tribune CZ
SN - 00108650
KW - Arrhythmic storm
KW - Mutation analysis
KW - RyR2 gene
KW - Sudden cardiac death
UR - http://www.sciencedirect.com/science/article/pii/S0010865012000367#
N2 - 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.
ER -
ANDRŠOVÁ, Irena, Tomáš NOVOTNÝ, Iveta VALÁŠKOVÁ, Jitka KADLECOVÁ, D. KUDEROVÁ, Milan SEPŠI, Milan KOZÁK, M. KŘIVAN, Renata GAILLYOVÁ a Jindřich ŠPINAR. Mutation analysis of RyR2 gene in patients after arrhythmic storm. \textit{Cor et Vasa}. Praha: Medical Tribune CZ, 2012, roč.~54, č.~2, s.~E84-E87, 4 s. ISSN~0010-8650. Dostupné z: https://dx.doi.org/10.1016/j.crvasa.2012.03.003.
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