. "0022-0736" . "P(NS10429)" . "RIV/00216224:14110/12:00064939" . . "Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing"@en . . "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" . . "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." . . . "Ma\u0148ou\u0161kov\u00E1, Lenka" . . "10.1016/j.jelectrocard.2012.05.004" . "V\u00EDt, Pavel" . "Journal of Electrocardiology" . . . . "6"^^ . "US - Spojen\u00E9 st\u00E1ty americk\u00E9" . "\u0160pinar, Jind\u0159ich" . "Exercise test; LQT syndrome; Mutation; Sudden cardiac death; Torsades de Pointes"@en . . "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 . . "RIV/00216224:14110/12:00064939!RIV13-MZ0-14110___" . "000310763300040" . "Kadlecov\u00E1, Jitka" . . . . "[1574C1233D93]" . "14110" . "Flori\u00E1nov\u00E1, Alena" . "7"^^ . "45" . . "6" . "127425" . "Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing"@en . . "Gaillyov\u00E1, Renata" . "10"^^ . "Novotn\u00FD, Tom\u00E1\u0161" . . . . . . . "\u0160i\u0161\u00E1kov\u00E1, Martina" . . "Andr\u0161ov\u00E1, Irena" . "Bittnerov\u00E1, Alexandra" .