Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: Importance of exercise testing

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F12%3A%230001620" target="_blank" >RIV/65269705:_____/12:#0001620 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/12:00064939
Result on the web
<a href="http://dx.doi.org/10.1016/j.jelectrocard.2012.05.004" target="_blank" >http://dx.doi.org/10.1016/j.jelectrocard.2012.05.004</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.jelectrocard.2012.05.004" target="_blank" >10.1016/j.jelectrocard.2012.05.004</a>

Result language
angličtina
Original language name
Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: Importance of exercise testing
Original language description
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 determinecorrelation 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 oth
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FA - Cardiovascular diseases including cardio-surgery
OECD FORD branch
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Project
<a href="/en/project/NS10429" target="_blank" >NS10429: Polymorphisms in promoters of ion channel genes and relationship to risk of malignant arrhythmias</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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