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

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
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 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. 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. (en)
Title	Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing (en)
skos:prefLabel	Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing (en)
skos:notation	RIV/00216224:14110/12:00064939!RIV13-MZ0-14110___
http://linked.open...avai/predkladatel	Lékařská fakulta
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(NS10429)
http://linked.open...iv/cisloPeriodika	6
http://linked.open...vai/riv/dodaniDat	2013
http://linked.open...aciTvurceVysledku	Gaillyová, Renata Špinar, Jindřich Andršová, Irena Bittnerová, Alexandra Novotný, Tomáš Floriánová, Alena Šišáková, Martina
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykova univerzita / Lékařská fakulta
http://linked.open...dnocenehoVysledku	127425
http://linked.open...ai/riv/idVysledku	RIV/00216224:14110/12:00064939
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Exercise test; LQT syndrome; Mutation; Sudden cardiac death; Torsades de Pointes (en)
http://linked.open.../riv/klicoveSlovo	LQT syndrome Sudden cardiac death Torsades de Pointes Mutation Exercise test
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[1574C1233D93]
http://linked.open...i/riv/nazevZdroje	Journal of Electrocardiology
http://linked.open...in/vavai/riv/obor	FA
http://linked.open...ichTvurcuVysledku	7 (xsd:int)
http://linked.open...cetTvurcuVysledku	10 (xsd:int)
http://linked.open...vavai/riv/projekt	Polymorphisms in promoters of ion channel genes and relationship to risk of malignant arrhythmias
http://linked.open...UplatneniVysledku	2012
http://linked.open...v/svazekPeriodika	45
http://linked.open...iv/tvurceVysledku	Gaillyová, Renata Špinar, Jindřich Novotný, Tomáš Vít, Pavel Andršová, Irena Bittnerová, Alexandra Floriánová, Alena Kadlecová, Jitka Maňoušková, Lenka Šišáková, Martina
http://linked.open...ain/vavai/riv/wos	000310763300040
issn	0022-0736
number of pages	6 (xsd:int)
http://bibframe.org/vocab/doi	10.1016/j.jelectrocard.2012.05.004
http://localhost/t...ganizacniJednotka	14110
is http://linked.open...avai/riv/vysledek of	Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing

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