|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Catecholaminergic polymorphic ventricular tachycardia (CPVT) has been often misdiagnosed as long QT syndrome (LQTS) type 1 (LQT1), which phenotypically mimics CPVT but has a relatively better prognosis.
|
29925740 |
2018 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We aimed to investigate if a KCNQ1 variant [p.(Pro64_Pro70del)], previously reported as pathogenic, contributes to the long-QT syndrome phenotype, co-segregates with disease or affects KCNQ1 function in vitro.
|
29582136 |
2018 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our study consisted of 1,923 U.S. subjects from the Rochester-based LQTS Registry with genotype-positive LQT1 (n = 879), LQT2 (n = 807), and LQT3 (n = 237).
|
29504689 |
2018 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Complex aberrant splicing in the induced pluripotent stem cell-derived cardiomyocytes from a patient with long QT syndrome carrying KCNQ1-A344Aspl mutation.
|
29857160 |
2018 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We therefore analysed variations in the LQTS-associated genes KCNQ1 (LQT1) and KCNH2 (LQT2) using cardiac blood and myocardial tissue from subjects having died suddenly during MP or NPS use to investigate the relationship between congenital genetic abnormalities and sudden death during illegal drug use.
|
29855564 |
2018 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
For example, in hereditary long QT syndrome due to mutations in KCNQ1 arrhythmic episodes are provoked by exercise and in particular swimming.
|
28223225 |
2017 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation.
|
28249770 |
2017 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
An emerging standard-of-care for long-QT syndrome uses clinical genetic testing to identify genetic variants of the KCNQ1 potassium channel.
|
29021305 |
2017 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This was a retrospective review of 349 children with LQTS (mean age at diagnosis, 8.0 ± 5.7 years; mean corrected QT interval, 469 ± 51 ms; long QT syndrome type 1 [LQT1] in 46%, LQT2 in 31%, and LQT3 in 9%) evaluated from 2000 to 2013.
|
28416468 |
2017 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We identified two new mutations (KCNQ1 gene) and 6 known mutations (AKAP9, ANK2, KCNE1 and KCNJ2 genes) in 4 out of 9 probands, some of which have already been described in association with LQTS.
|
28003625 |
2017 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The authors conducted a retrospective study comprising the 606 patients with LQTS (LQT1 in 47%, LQT2 in 34%, and LQT3 in 9%) who were evaluated in Mayo Clinic's Genetic Heart Rhythm Clinic from January 1999 to December 2015.
|
28728690 |
2017 |
|
Long QT Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
We, therefore, aimed to assess the effect of age and sex on the QTc interval in children and adolescents with type 1 (LQT1) and type 2 (LQT2) long-QT syndrome.
|
28356306 |
2017 |
|
Long QT Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Low extracellular potassium prolongs repolarization and evokes early afterdepolarization in human induced pluripotent stem cell-derived cardiomyocytes.
|
28619993 |
2017 |
|
Long QT Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
There are no definitive diagnostic criteria or follow-up strategies for long QT syndrome (LQTS) in children with a borderline long QT interval (b-LQT).Methods and Results:We retrospectively evaluated the clinical course, genetic testing results, corrected QT interval (QTc), and LQTS score of 59 school-aged children (5-18 years old) with a b-LQT (400≤QTc<500 ms).
|
28216547 |
2017 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
One of the most common and potentially life-threatening electrolyte disturbances is hypokalemia, characterized by low concentrations of K<sup>+</sup> Using a multielectrode array platform and current clamp technique, we investigated the effect of low extracellular K<sup>+</sup> concentration ([K<sup>+</sup>]<sub>Ex</sub>) on the electrophysiological properties of hiPSC-derived cardiomyocytes (CMs) generated from a healthy control subject (WT) and from two symptomatic patients with type 1 of LQTS carrying G589D (LQT1A) or IVS7-2A>G mutation (LQT1B) in <i>KCNQ1</i> The baseline prolongations of field potential durations (FPDs) and action potential durations (APDs) were longer in LQT1-CMs than in WT-CMs.
|
28619993 |
2017 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, we performed a mutation analysis for the detection of 125 LQTS-associated single nucleotide polymorphisms (SNPs) focused on the genes KCNQ1, KCNH2, and SCN5A by using the SNaPshot multiplex minisequencing technique.
|
27613431 |
2017 |
|
Long QT Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Relative hyperglycemia induced by ingestion of 75-g glucose caused cardiac repolarization disturbances that were more severe in KCNQ1 LQTS patients compared with control subjects.
|
28400316 |
2017 |
|
Long QT Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Among VCG parameters, QTpeak and TwEVs significantly differentiated patients with ecLQTS from controls (P ≤ .01 for each) as well as differentiated KCNQ1-encoded type 1 LQTS (ecLQT1), KCNH2-encoded type 2 LQTS (ecLQT2), and SCN5A-encoded type 3 LQTS (ecLQT3) from controls (P < .01). ecLQT3 was differentiated from controls and ecLQT1 and ecLQT2 by the fourth TwEV (P < .01 for each).
|
28279743 |
2017 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here we assess three non-coding NOS1AP sequence variants, chosen for their previously reported strong association with QTc in normal and LQTS populations, for association with QTc in two Swedish LQT1 founder populations.
|
28720088 |
2017 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
According to previous KCNQ1 (potassium channel, voltage gated, KQT-like subfamily, member 1) gene screening studies, missense variants, but not nonsense or frame-shift variants, cause the majority of long QT syndrome (LQTS; Romano-Ward syndrome [RWS]) 1 cases.
|
28595573 |
2017 |
|
Long QT Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
PCR and bidirectional Sanger sequencing of genes important for long QT syndrome (LQTS), short QT syndrome (SQTS), Brugada syndrome type 1 (BrS1), and catecholaminergic polymorphic ventricular tachycardia (CPVT) (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, and RYR2) was performed.
|
26228265 |
2016 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes.
|
27485560 |
2016 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Probability of diagnosing long QT syndrome in children and adolescents according to the criteria of the HRS/EHRA/APHRS expert consensus statement.
|
27026747 |
2016 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity?
|
27041096 |
2016 |
|
Long QT Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.
|
26669661 |
2016 |