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Long-QT-Syndrom 01

Das Long-QT-Syndrom 1 ist eine autosomal dominante Erkrankung die durch Mutationen des KCNQ1-Gens ausgelöst wird.

Gliederung

Long-QT-Syndrom
Long-QT-Syndrom 01
KCNQ1
Long-QT-Syndrom 02
Long-QT-Syndrom 13

Referenzen:

1.

Tye KH et al. (1980) Survival following spontaneous ventricular flutter-fibrillation associated with QT syndrome. Documentation during ambulatory monitoring.

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2.

Weitkamp LR et al. (1994) Analysis of HLA and disease susceptibility: chromosome 6 genes and sex influence long-QT phenotype.

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3.

Tanaka T et al. (1994) Genetic linkage analyses of Romano-Ward syndrome (RWS) in 13 Japanese families.

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4.

Ko YL et al. (1994) No evidence for linkage of long QT syndrome and chromosome 11p15.5 markers in a Chinese family: evidence for genetic heterogeneity.

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5.

Jiang C et al. (1994) Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity.

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6.

Roy N et al. (1994) Exclusion of HRAS from long QT locus.

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7.

Mitsutake A et al. (1981) Usefulness of the Valsalva maneuver in management of the long QT syndrome.

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8.

DeSilvey DL et al. (1980) Primidone in the treatment of the long QT syndrome: QT shortening and ventricular arrhythmia suppression.

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9.

Di Segni E et al. (1980) Permanent overdrive pacing for the suppression of recurrent ventricular tachycardia in a newborn with long QT syndrome.

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10.

Towbin JA et al. (1994) Evidence of genetic heterogeneity in Romano-Ward long QT syndrome. Analysis of 23 families.

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11.

Flugelman MY et al. (1982) Congenital prolongation of Q-T interval: a family study of three generations.

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12.

Milne JR et al. (1982) The long QT syndrome; effects of drugs and left stellate ganglion block.

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13.

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14.

Garza LA et al. (1970) Heritable Q-T prolongation without deafness.

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15.

Moss AJ et al. (1971) Unilateral cervicothoracic sympathetic ganglionectomy for the treatment of long QT interval syndrome.

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16.

Singer PA et al. (1974) Familial Q-T prolongation syndrome. Convulsive seizures and paroxysmal ventricular fibrillation.

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17.

van der Straaten PJ et al. (1973) A family with heritable electrocardiographic QT-prolongation.

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18.

Itoh T et al. (2001) Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome.

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19.

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20.

Gouas L et al. (2005) Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.

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21.

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22.

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23.

Priori SG et al. (2003) Risk stratification in the long-QT syndrome.

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24.

None (2003) The long-QT syndrome--bedside to bench to bedside.

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25.

Kimbrough J et al. (2001) Clinical implications for affected parents and siblings of probands with long-QT syndrome.

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26.

Miller MD et al. (2001) Diagnostic accuracy of screening electrocardiograms in long QT syndrome I.

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27.

Priori SG et al. (1999) Low penetrance in the long-QT syndrome: clinical impact.

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28.

Locati EH et al. (1998) Age- and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome: findings from the International LQTS Registry.

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29.

Schwartz PJ et al. (1998) Prolongation of the QT interval and the sudden infant death syndrome.

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30.

Shimizu W et al. (1998) Improvement of repolarization abnormalities by a K+ channel opener in the LQT1 form of congenital long-QT syndrome.

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31.

Klein HO et al. (1996) Congenital long-QT syndrome: deleterious effect of long-term high-rate ventricular pacing and definitive treatment by cardiac transplantation.

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32.

Benhorin J et al. (1993) Evidence of genetic heterogeneity in the long QT syndrome.

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33.

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34.

Pacia SV et al. (1994) The prolonged QT syndrome presenting as epilepsy: a report of two cases and literature review.

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35.

Millat G et al. (2006) Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

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36.

Imboden M et al. (2006) Female predominance and transmission distortion in the long-QT syndrome.

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37.

Napolitano C et al. (2005) Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

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38.

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39.

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40.

Ackerman MJ et al. (1998) A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family.

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41.

Priori SG et al. (1998) A recessive variant of the Romano-Ward long-QT syndrome?

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42.

Russell MW et al. (1996) KVLQT1 mutations in three families with familial or sporadic long QT syndrome.

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43.

Wang Q et al. (1996) Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.

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44.

None (1986) The heart rate of Romano-Ward syndrome patients.

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45.

Tester DJ et al. (2005) Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

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46.

Westenskow P et al. (2004) Compound mutations: a common cause of severe long-QT syndrome.

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47.

Yang P et al. (2002) Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.

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48.

Splawski I et al. (2000) Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

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49.

Jongbloed RJ et al. (1999) Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

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50.

Berthet M et al. (1999) C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.

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51.

Zareba W et al. (1998) Influence of genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group.

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52.

Arbour L et al. (2008) A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact.

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53.

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54.

Horn CA et al. (1986) The congenital long QT syndrome. An unusual cause of childhood seizures.

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55.

Moss AJ et al. (1991) The long QT syndrome. Prospective longitudinal study of 328 families.

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56.

Keating M et al. (1991) Consistent linkage of the long-QT syndrome to the Harvey ras-1 locus on chromosome 11.

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57.

Göhl K et al. (1991) Congenital myocardial sympathetic dysinnervation (CMSD)--a structural defect of idiopathic long QT syndrome.

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58.

Keating M et al. (1991) Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene.

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59.

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60.

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61.

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62.

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63.

None (1978) Hereditary QT prolongation syndrome in Japan: genetic analysis and pathological findings of the conducting system.

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64.

Moss AJ et al. (1979) Sudden death and the idiopathic long Q-T syndrome.

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65.

Pony JC et al. (1977) [Familial long QT-syncope syndrome. 2 cases of Romano-Ward syndrome].

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66.

Baudouy P et al. (1977) [Romano-Ward syndrome and left stellectomy. General review apropos of a recent case].

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67.

None (1976) Cardiac sympathetic innervation and the sudden infant death syndrome. A possible pathogenetic link.

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68.

Johnson JN et al. (2008) Prevalence of early-onset atrial fibrillation in congenital long QT syndrome.

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69.

OMIM.ORG article

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Update: 14. August 2020
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