| ANDRŠOVÁ, Irena, Tomáš NOVOTNÝ, Jitka KADLECOVÁ, Alexandra BITTNEROVÁ, Pavel VÍT, Alena FLORIÁNOVÁ, Martina ŠIŠÁKOVÁ, Renata GAILLYOVÁ, Lenka MAŇOUŠKOVÁ a Jindřich ŠPINAR. Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing. Journal of Electrocardiology. PHILADELPHIA, 2012, roč. 45, č. 6, s. 746-751. ISSN 0022-0736. Dostupné z: https://dx.doi.org/10.1016/j.jelectrocard.2012.05.004. |
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@article{1081795,
author = {Andršová, Irena and Novotný, Tomáš and Kadlecová, Jitka and Bittnerová, Alexandra and Vít, Pavel and Floriánová, Alena and Šišáková, Martina and Gaillyová, Renata and Maňoušková, Lenka and Špinar, Jindřich},
article_location = {PHILADELPHIA},
article_number = {6},
doi = {http://dx.doi.org/10.1016/j.jelectrocard.2012.05.004},
keywords = {Exercise test; LQT syndrome; Mutation; Sudden cardiac death; Torsades de Pointes},
language = {eng},
issn = {0022-0736},
journal = {Journal of Electrocardiology},
title = {Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing},
volume = {45},
year = {2012}
}
TY - JOUR
ID - 1081795
AU - Andršová, Irena - Novotný, Tomáš - Kadlecová, Jitka - Bittnerová, Alexandra - Vít, Pavel - Floriánová, Alena - Šišáková, Martina - Gaillyová, Renata - Maňoušková, Lenka - Špinar, Jindřich
PY - 2012
TI - Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing
JF - Journal of Electrocardiology
VL - 45
IS - 6
SP - 746-751
EP - 746-751
SN - 00220736
KW - Exercise test
KW - LQT syndrome
KW - Mutation
KW - Sudden cardiac death
KW - Torsades de Pointes
N2 - Background: Classic symptoms of long QT syndrome (LQTS) include prolongation of QT interval on electrocardiograph, syncope, and cardiac arrest due to a distinctive form of polymorphic ventricular tachycardia, known as Torsade de Pointes. We assessed occurrence of LQTS signs in individuals from 30 Czech families with mutations in KCNQ1 and KCNH2 genes. Methods and Results: One hundred five individuals from 30 Czech families with LQTS were genotyped for KCNQ1 and KCNH2. The occurrence of typical LQTS signs (pathologic prolongation of QT interval; syncope; cardiac arrest; Torsade de Pointes) was clinically assessed by exercise test with QT interval analysis. Family history of sudden cardiac death was taken. Statistical analysis was performed to determine correlation of clinical results and mutation status. KCNQ1 gene mutations were found in 23 families, and KCNH2 gene mutations in eight families. Only 46 (70%) of the 66 mutation carriers had at least two of the typical LQTS signs. The others were minimally or asymptomatic. From 39 noncarrier individuals, only 1 fulfilled the clinical criteria of LQTS diagnosis, another 4 had an intermediate probability of diagnosis. The exercise test had 92% sensitivity and 93% specificity for LQTS diagnosis. Conclusions: Incidence of classical signs of LQTS was not high in Czech carriers of KCNQ1 and KCNH2 mutations. Therefore, proper diagnosis relies on detection of symptoms at presentation. The exercise test may be beneficial owing to its high sensitivity and specificity for LQTS diagnosis. (C) 2012 Elsevier Inc. All rights reserved.
ER -
ANDRŠOVÁ, Irena, Tomáš NOVOTNÝ, Jitka KADLECOVÁ, Alexandra BITTNEROVÁ, Pavel VÍT, Alena FLORIÁNOVÁ, Martina ŠIŠÁKOVÁ, Renata GAILLYOVÁ, Lenka MAŇOUŠKOVÁ a Jindřich ŠPINAR. Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing. \textit{Journal of Electrocardiology}. PHILADELPHIA, 2012, roč.~45, č.~6, s.~746-751. ISSN~0022-0736. Dostupné z: https://dx.doi.org/10.1016/j.jelectrocard.2012.05.004.
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