Mutation analysis of RyR2 gene in patients after arrhythmic
storm

J 2012

Mutation analysis of RyR2 gene in patients after arrhythmic storm

ANDRŠOVÁ, Irena, Tomáš NOVOTNÝ, Iveta VALÁŠKOVÁ, Jitka KADLECOVÁ, D. KUDEROVÁ et. al.

Basic information

Original name

Mutation analysis of RyR2 gene in patients after arrhythmic storm

Authors

ANDRŠOVÁ, Irena (203 Czech Republic, guarantor, belonging to the institution), Tomáš NOVOTNÝ (203 Czech Republic, belonging to the institution), Iveta VALÁŠKOVÁ (203 Czech Republic, belonging to the institution), Jitka KADLECOVÁ (203 Czech Republic), D. KUDEROVÁ (203 Czech Republic), Milan SEPŠI (203 Czech Republic, belonging to the institution), Milan KOZÁK (203 Czech Republic, belonging to the institution), M. KŘIVAN (203 Czech Republic), Renata GAILLYOVÁ (203 Czech Republic, belonging to the institution) and Jindřich ŠPINAR (203 Czech Republic, belonging to the institution)

Edition

Cor et Vasa, Praha, Medical Tribune CZ, 2012, 0010-8650

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30201 Cardiac and Cardiovascular systems

Country of publisher

Czech Republic

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

RIV identification code

RIV/00216224:14110/12:00064650

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1016/j.crvasa.2012.03.003

UT WoS

000409949600005

Keywords in English

Arrhythmic storm; Mutation analysis; RyR2 gene; Sudden cardiac death

Abstract

V originále

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.

Links

MUNI/A/0811/2011, interní kód MU

Name: Genetické a elektrokardiografické faktory prognózy pacientů se srdečním selháním (Acronym: GESS)

Investor: Masaryk University, Category A

Citovat

ANDRŠOVÁ, Irena, Tomáš NOVOTNÝ, Iveta VALÁŠKOVÁ, Jitka KADLECOVÁ, D. KUDEROVÁ, Milan SEPŠI, Milan KOZÁK, M. KŘIVAN, Renata GAILLYOVÁ and Jindřich ŠPINAR. Mutation analysis of RyR2 gene in patients after arrhythmic storm. Cor et Vasa. Praha: Medical Tribune CZ, 2012, vol. 54, No 2, p. E84-E87, 4 pp. ISSN 0010-8650. Available from: https://dx.doi.org/10.1016/j.crvasa.2012.03.003.

@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 and Jindřich ŠPINAR. Mutation analysis of RyR2 gene in patients after arrhythmic storm. \textit{Cor et Vasa}. Praha: Medical Tribune CZ, 2012, vol.~54, No~2, p.~E84-E87, 4 pp. ISSN~0010-8650. Available from: https://dx.doi.org/10.1016/j.crvasa.2012.03.003.

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