|
Cardiac Arrhythmia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The sodium channel gene SCN5A and potassium channel genes KCNQ1 and KCNH2 have been widely reported to be genetic risk factors for arrhythmia including Brugada syndrome and long QT syndrome (LQTS).
|
31751991 |
2020 |
|
Cardiac Arrhythmia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Loss-of-function variants in KCNH2 cause long QT syndrome type 2, which is associated with a markedly increased risk of cardiac arrhythmias.
|
31557540 |
2020 |
|
Cardiac Arrhythmia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In this study, we analyzed the genetic variants of KCNQ1, KCNH2, and SCN5A in patients from seven cohorts (total N = 11945, including patients clinically suspected to have inherited arrhythmia [n = 122], other cardiovascular diseases [n = 1045], epilepsy [n = 4797], or other diseases [n = 5841], and healthy controls [n = 140]) who had undergone genetic testing.
|
31696929 |
2020 |
|
Cardiac Arrhythmia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Arrhythmias in LQT2 and LQT3 were bradycardia dependent, whereas those in LQT1 were not.
|
31838916 |
2019 |
|
Cardiac Arrhythmia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Impaired functional plasma membrane (PM) expression of the hERG K<sup>+</sup>-channel is associated with Long-QT syndrome type-2 (LQT2) and increased risk of cardiac arrhythmia.
|
30988392 |
2019 |
|
Cardiac Arrhythmia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In conclusion, short-long RR pattern increased APD dispersion only in LQT2 rabbits through heterogeneous APD restitution and the short-term memory, underscoring the genotype-specific triggering of arrhythmias in LQT syndrome.
|
31619700 |
2019 |
|
Cardiac Arrhythmia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Areas covered: The genetic basis for genotyped SQTS variants (SQT1-SQT8) and evidence for arrhythmia substrates from experimental and simulation studies are discussed.
|
29697308 |
2018 |
|
Cardiac Arrhythmia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Reduced levels of the cardiac human (h)ERG ion channel protein and the corresponding repolarizing current <i>I</i><sub>Kr</sub> can cause arrhythmia and sudden cardiac death, but the underlying cellular mechanisms controlling hERG surface expression are not well understood.
|
29507111 |
2018 |
|
Cardiac Arrhythmia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
In long QT syndrome type 2, women are more prone than men to the lethal arrhythmia torsades de pointes.
|
29330129 |
2018 |
|
Cardiac Arrhythmia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Patients with long QT syndrome due to rare loss-of-function mutations in the human ether-á-go-go-related gene (hERG) have prolonged QT interval, risk of arrhythmias, increased secretion of insulin and incretins and impaired glucagon response to hypoglycemia.
|
29548277 |
2018 |
|
Cardiac Arrhythmia
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
In MI mice, sEHI t-AUCB can repress miR-133, consequently stimulating KCNQ1 and KCNH2 mRNA and protein expression, suggesting a possible mechanism for its potential therapeutic application in ischemic arrhythmias.
|
29843720 |
2018 |
|
Cardiac Arrhythmia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In the subgroup of carriers with syncope and/or cardiac arrest (n=10, 90% women), K897T-KCNH2 polymorphism (p=0.02), periodic paralysis (p=0.004), muscle weakness (p=0.04), palpitations (p=0.04), arrhythmias (biventricular VT, p=0.003; polymorphic VT, p=0.009) were observed more frequently.
|
28336205 |
2017 |
|
Cardiac Arrhythmia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
In the 3D wedge, disopyramide and quinidine at clinically-relevant concentrations decreased the dominant frequency of re-entrant excitations and exhibited anti-fibrillatory effects; preventing formation of multiple, chaotic wavelets which developed in SQT1, and could terminate arrhythmias.
|
29085299 |
2017 |
|
Cardiac Arrhythmia
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
The present work uncovered a novel molecular mechanism underlying HERG protein expression and indicated that PML SUMOylation is a critical step in the development of drug-acquired arrhythmia.
|
28525371 |
2017 |
|
Cardiac Arrhythmia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
We have previously reported that in female rabbits, estrogen increases arrhythmia risk in drug-induced LQTS2 by upregulating L-type Ca<sup>2+</sup> (I<sub>Ca,L</sub>) and sodium-calcium exchange (I<sub>NCX</sub>) currents at the base of the epicardium by a genomic mechanism.
|
28807015 |
2017 |
|
Cardiac Arrhythmia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Genetic mutations in KCNH2, which encodes hERG, the alpha subunit of the potassium channel responsible for the I<sub>Kr</sub> current, cause long QT syndrome (LQTS), an inherited cardiac arrhythmia disorder.
|
28544109 |
2017 |
|
Cardiac Arrhythmia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Human ether-a-go-go-related gene (hERG; K<sub>v</sub> 11.1) channel inhibition is a widely accepted predictor of cardiac arrhythmia. hERG channel inhibition alone is often insufficient to predict pro-arrhythmic drug effects.
|
28681507 |
2017 |
|
Cardiac Arrhythmia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Autoantibodies with beta-adrenergic activity from chronic chagasic patients induce cardiac arrhythmias and early afterdepolarization in a drug-induced LQT2 rabbit hearts.
|
28320606 |
2017 |
|
Cardiac Arrhythmia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the hERG gene and hERG channel blockage by small molecules are associated with increased risk of fatal arrhythmias.
|
28497823 |
2017 |
|
Cardiac Arrhythmia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Congenital mutations in the cardiac Kv11.1 channel can cause long QT syndrome type 2 (LQTS2), a heart rhythm disorder associated with sudden cardiac death.
|
28280240 |
2017 |
|
Cardiac Arrhythmia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Patients with KCNE1(G38S) had a rate-dependent repolarization abnormality similar to patients with LQT2 and, therefore, may have a potential risk to develop lethal arrhythmias.
|
27255646 |
2017 |
|
Cardiac Arrhythmia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Blockage of some ion channels and in particular, the hERG (human Ether-a'-go-go-Related Gene) cardiac potassium channel delays cardiac repolarization and can induce arrhythmia.
|
29297274 |
2017 |
|
Cardiac Arrhythmia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Overexpressing DNAJB14 significantly rescued the defective function of human ether-a-go-go-related gene (hERG) mutant channels associated with long QT syndrome (LQTS), a condition that predisposes to life-threatening arrhythmia, by stabilizing the mutated proteins.
|
27916661 |
2017 |
|
Cardiac Arrhythmia
|
0.500 |
Biomarker
|
phenotype |
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 |
|
Cardiac Arrhythmia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In contrast, mutations in the cyclic nucleotide binding domain (cNBD) of KCNH2 conferred a negative risk of seizures, but not arrhythmias.
|
27466471 |
2016 |