|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A 31-year-old female with syncope at rest and recurrent short-coupled premature ventricular contractions (PVCs) initiating PMVT was found to be heterozygous for a novel RyR2-H29D mutation.
|
25463374 |
2015 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Genetic analysis identifies two groups of patients: Patients with nongenotyped CPVT are predominantly women and become symptomatic later in life; patients with RyR2 CPVT become symptomatic earlier, and men are at higher risk of cardiac events.
|
12093772 |
2002 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutant cardiac ryanodine receptors and ventricular arrhythmias: is 'gain-of-function' obligatory?
|
15364606 |
2004 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Short QT syndrome.
|
16301704 |
2005 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring.
|
20851825 |
2011 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
In this study, we simulated mutations in 2 genes linked to catecholaminergic polymorphic ventricular tachycardia, the first located in calsequestrin (CSQN2) and the second in the ryanodine receptor (RyR2).
|
17234962 |
2007 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of a novel mutation in the cardiac ryanodine receptor that results in catecholaminergic polymorphic ventricular tachycardia.
|
20676041 |
2011 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Importantly, RYR2 p.P164S is associated with the risk of sudden cardiac death, such as in catecholaminergic polymorphic ventricular tachycardia.
|
29132927 |
2019 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Nationwide experience of catecholaminergic polymorphic ventricular tachycardia caused by RyR2 mutations.
|
28237968 |
2017 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Three cases showed RYR2 mutations, which are responsible for CPVT.We also found a novel KCNQ1 mutation.
|
19261510 |
2009 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study identifies a potentially lethal overlapping syndrome of LVNC and atypical CPVT related to a novel RYR2 variant.
|
27646203 |
2017 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The penetrance of CPVT phenotype was significantly higher in RYR2 mutation carriers, thus RYR2 gene screening in CPVT patients would be indispensable to prevent unexpected cardiac sudden death of young family members.
|
23595086 |
2013 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We aimed to elucidate arrhythmia mechanisms in a RyR2-linked CPVT mutation (RyR2-A4860G) that depresses channel activity.
|
25775566 |
2015 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic autopsies have detected "leaky" gain-of-function mutations in the ryanodine receptor-2 (RyR2) gene in both SUDEP and sudden cardiac death cases linked to catecholaminergic polymorphic ventricular tachycardia that feature lethal cardiac arrhythmias without structural abnormality.
|
27482086 |
2016 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
RyR2 mutations were detected frequently in CPVT but not in other diseases.
|
16843546 |
2007 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
The steps of the molecular pathogenesis of CPVT are not entirely clear, but inappropriate "leakiness" of RyR2 channels is thought to play a role; the underlying mechanisms may involve an increase in the basal activity of the RyR2 channel, alterations in its phosphorylation status, a defective interaction of RyR2 with other molecules or ions, such as FKBP12.6, CASQ2, or Mg2+, or its abnormal activation by extra- or intraluminal Ca2+ ions.
|
15913575 |
2005 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the cardiac ryanodine receptor gene (RYR2) cause an autosomal dominant form of CPVT, while mutations in the cardiac calsequestrin 2 gene (CASQ2) cause an autosomal recessive form.
|
27157848 |
2016 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recombinant channels harboring CPVT-linked RyR2 mutations were functionally characterized using tritiated ryanodine binding and single-channel recordings.
|
23152493 |
2013 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a familial arrhythmogenic disorder associated with mutations in the cardiac ryanodine receptor (RyR2) and cardiac calsequestrin (CASQ2) genes.
|
16601229 |
2006 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The current study firstly reported a case with CPVT associated with a mutant of RYR2 at c.7580T > G in children.
|
29668588 |
2018 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To that end, we have designed a CaM protein (GSH-M37Q; dubbed as therapeutic CaM or T-CaM) that exhibited a slowed N-terminal Ca dissociation rate and prolonged RyR2 refractoriness in permeabilized myocytes derived from CPVT mice carrying the CASQ2 mutation R33Q.
|
29720499 |
2018 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The exercise testing unmasked catecholaminergic polymorphic ventricular tachycardia in 8 relatives (sensitivity = 89%; positive predictive value = 100%; negative predictive value = 93%), all of them carrying the heterozygous RyR2(R420Q) mutation, which was also present in the proband and a young girl without exercise testing, a 91% penetrance at the end of the follow-up.
|
25440180 |
2015 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Deletion mutants of unc-68, and in particular the point mutant UNC-68(R4743C), analogous to the established human CPVT mutant RyR2(R4497C), were unable to follow 3.7 Hz pacing, with progressive defects during long stimulus trains.
|
29235522 |
2017 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
These results also suggest that altered cytosolic Ca<sup>2+</sup> activation of RyR2 represents a common defect of RyR2 mutations associated with CPVT and AF, which could potentially be suppressed by carvedilol or (R)-carvedilol.
|
27733687 |
2016 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
iPS cells were derived from dermal fibroblasts of healthy donors and a patient with CPVT1 carrying the novel heterozygous autosomal dominant mutation p.F2483I in the RYR2.
|
22178870 |
2011 |