|
Syncope
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Long QT type 1 (gene, KCNQ1) and CPVT (gene, RyR2) typically present with cardiac events (ie syncope or cardiac arrest) during or immediately after exercise in young males; long QT type 2 (gene, KCNH2) after startle or during the night in adult females-particularly early post-partum, and long QT type 3 and Brugada syndrome (gene, SCN5A) during the night in young adult males.
|
30389366 |
2019 |
|
Syncope
|
0.200 |
GeneticVariation
|
phenotype |
CLINVAR |
Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.
|
29033053 |
2018 |
|
Syncope
|
0.200 |
CausalMutation
|
phenotype |
CLINVAR |
Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome.
|
29372044 |
2018 |
|
Syncope
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
The study cohort consisted of 67 KCNQ1 mutation carriers and 13 family members who were suspected as having LQTS due to sudden cardiac death or syncope from 36 unrelated families.
|
29439887 |
2018 |
|
Syncope
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Long QT syndrome (LQTS) is a cardiac channelopathy predisposing to syncope and sudden death secondary to LQT-triggered ventricular arrhythmias.
|
23095322 |
2014 |
|
Syncope
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
The aims of this study were to test the hypothesis that syncope events in FMs are benign events and to compare clinical characteristics, triggers eliciting the syncope events, and long-term outcomes between FMs and those with LQT1 or LQT2 mutations from the international Long QT Syndrome Registry.
|
25173441 |
2014 |
|
Syncope
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Screening KCNQ1, KCNH2, and SCN5A genes in the proband, who presented with syncope, led to the identification of a heterozygous mutation (p.H258P) in KCNQ1.
|
22708720 |
2013 |
|
Syncope
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
This observation has implicated the C-loop region as being mechanistically important in the altered response to sympathetic stimulation known to put patients with LQT1 at risk of syncope and sudden cardiac death.
|
23691991 |
2013 |
|
Syncope
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations within the transmembrane domain of KCNQ1 were associated with a greater risk of cardiac arrest and syncope relative to mutations in other domains of the gene.
|
23631430 |
2013 |
|
Syncope
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Prior clinical reports revealed phenotypic variability ranging from the absence of symptoms to syncope among KCNQ1 G325R mutation carriers.
|
23000022 |
2012 |
|
Syncope
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
In contrast, among LQT1 women, the onset of menopause was associated with a reduction in the risk for recurrent syncope (hazard ratio, 0.19; P=0.05; P=0.02 for genotype-by-menopause interaction).
|
21632495 |
2011 |
|
Syncope
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Independent risk factors for syncope in genotype-negative subjects included female sex (hazard ratio [HR], 1.60; P=0.002), prolonged QTc (HR=1.63 per 100 ms increment, P=0.02), family history of ACA or SCD (HR=1.89, P=0.002), and LQT2 versus LQT1 family mutation (HR=1.41, P=0.03).
|
21831960 |
2011 |
|
Syncope
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Torsades de pointes and episodes of syncope are very likely to be due to the KCNQ1 variant L203P found in this patient.
|
21459285 |
2011 |
|
Syncope
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We identified compound heterozygous mutations in KCNQ1 in a 5-yr-old child with JLNS, who visited the hospital due to recurrent syncope and seizures and had congenital sensorineural deafness.
|
20890437 |
2010 |
|
Syncope
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
A deletion of KCNQ1 exon 3 was identified in a 10-year-old Caucasian boy with a corrected QT duration of 660 ms, a personal history of exercise-induced syncope, and a family history of syncope.
|
20920651 |
2010 |
|
Syncope
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Furthermore, a prior syncope [hazard ratio (HR), 4.05; 95% confidence interval (CI), 1.1 to 15.0; p = 0.03] or an ACA (HR, 11.7; 95% CI, 3.1 to 43.4; p = <0.001) identified children with an increased risk for recurrent cardiac events compared to asymptomatic LQT children.
|
19101729 |
2009 |
|
Syncope
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
An I313K mutation within the selectivity filter of KCNQ1 results in a dominant-negative loss of channel function, leading to a long QT interval and subsequent syncope.
|
18266681 |
2008 |
|
Syncope
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
A novel and homozygous KCNQ1 mutation in a 23-year-old deaf woman with a prolonged QT interval and recurrent syncope in a Japanese family was identified.
|
18441444 |
2008 |
|
Syncope
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Although G269S in the KVLQT1 gene was detected in a female with known family history of syncope and sudden cardiac death, no other mutations were found in any of the 14 cases, and no other mutations was found in 200 controls.
|
16436635 |
2006 |
|
Syncope
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Single-strand conformation polymorphism (SSCP) analysis and subsequent DNA sequence analysis have identified a KCNQ1 mutation in a family that were clinically conspicuous due to several syncopes and prolonged QTc intervals in the ECG.
|
15511625 |
2004 |
|
Syncope
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
KCNQ1 mutations lead to the long QT syndrome (LQTS), characterized by a prolonged QT interval, syncopes and sudden death.
|
15194462 |
2004 |
|
Syncope
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Syncope and sudden death are associated with sympathetic stimulation in LQT1 while LQT2 patients are more susceptible to arrhythmias during nonexertional states.
|
14510655 |
2003 |
|
Syncope
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Inderal or propanolol (a beta blocker) appears to be effective in preventing arrhythmias and syncope for an LQTS patient with the KCNQ1 L191P mutation.
|
12442276 |
2002 |
|
Syncope
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
QTc measurements and rates of fainting for the present analysis are available from families with KVLQT1, HERG, or SCN5A genotypes.
|
11743033 |
2001 |
|
Syncope
|
0.200 |
Biomarker
|
phenotype |
HPO |
|
|
|