CPVT
MCID: CTC001
MIFTS: 50

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) malady

Genetic category

Summaries for Catecholaminergic Polymorphic Ventricular Tachycardia

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Catecholaminergic polymorphic ventricular tachycardia (cpvt) is a genetic disorder that causes an abnormally fast and irregular heart rhythm in response to physical activity or emotional stress. signs and symptoms include light-headedness, dizziness, and fainting. if untreated cpvt can cause a heart attack and death. cpvt is caused by mutations in the ryr2 or casq2 genes. when a ryr2 gene mutation is involved, the condition is passed through families in an autosomal dominant fashion. when casq2 gene mutations are involved, the condition is inherited in an autosomal recessive fashion. in some cases the underlying cause can not be determined. last updated: 1/25/2013

MalaCards: Catecholaminergic Polymorphic Ventricular Tachycardia, also known as catecholamine-induced polymorphic ventricular tachycardia, is related to sudden cardiac death multi-gene panels and malignant hyperthermia. An important gene associated with Catecholaminergic Polymorphic Ventricular Tachycardia is CASQ2 (calsequestrin 2 (cardiac muscle)), and among its related pathways are Netrin Signaling and DREAM Repression and Dynorphin Expression. The compounds spermine and 4-chloro-m-cresol have been mentioned in the context of this disorder. Affiliated tissues include heart and t cells, and related mouse phenotypes are muscle and mortality/aging.

Genetics Home Reference:21 Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia). As the heart rate increases in response to physical activity or emotional stress, it can trigger an abnormally fast and irregular heartbeat called ventricular tachycardia. Episodes of ventricular tachycardia can cause light-headedness, dizziness, and fainting (syncope). In people with CPVT, these episodes typically begin in childhood.

Wikipedia:64 Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a rhythm disorder of the lower chambers... more...

GeneReviews summary for cvt

Aliases & Classifications for Catecholaminergic Polymorphic Ventricular Tachycardia

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 61UMLS, 45Novoseek
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

catecholaminergic polymorphic ventricular tachycardia 19 43 20 22 21
catecholamine-induced polymorphic ventricular tachycardia 19 43 21
familial polymorphic ventricular tachycardia 19 43 21
fpvt 19 21
cpvt 19 21
ventricular tachycardia, catecholaminergic polymorphic, 1 61
ventricular tachycardia, catecholaminergic polymorphic 45
bidirectional tachycardia induced by catecholamines 21
bidirectional tachycardia induced by catecholamine 43
ventricular tachycardia, familial polymorphic 45
double tachycardia induced by catecholamines 43
cvpt 43


Related Diseases for Catecholaminergic Polymorphic Ventricular Tachycardia

Sources:
17GeneCards, 18GeneDecks
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Diseases in the ventricular tachycardia, catecholaminergic polymorphic, 2 family:

catecholaminergic polymorphic ventricular tachycardia ventricular tachycardia, catecholaminergic polymorphic, 1
ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness ventricular tachycardia, catecholaminergic polymorphic, 3
ventricular tachycardia, catecholaminergic polymorphic, 4

Diseases related to Catecholaminergic Polymorphic Ventricular Tachycardia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 31)
idRelated DiseaseScoreTop Affiliating Genes
1sudden cardiac death multi-gene panels30.5RYR1, FKBP1B, ANK2, RYR2, KCNJ2
2malignant hyperthermia30.5RYR1, CASQ2, RYR2
3familial ventricular tachycardia10.7
4syncope10.7
5brugada syndrome10.6
6bidirectional tachycardia10.6
7paroxysmal ventricular fibrillation10.6
8casq2-related catecholaminergic polymorphic ventricular tachycardia10.6
9n syndrome10.5
10ryr2-related catecholaminergic polymorphic ventricular tachycardia10.5
11trdn-related catecholaminergic polymorphic ventricular tachycardia10.5
12calm1-related catecholaminergic polymorphic ventricular tachycardia10.5
13ventricular tachycardia, catecholaminergic polymorphic, 110.5
14ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness10.5
15ventricular tachycardia, catecholaminergic polymorphic, 310.5
16ventricular tachycardia, catecholaminergic polymorphic, 410.5
17andersen-tawil syndrome10.4
18char syndrome10.4
19short syndrome10.4
20young syndrome10.4
21long qt syndrome 410.4
22ventricular tachycardia, catecholaminergic polymorphic, 210.4
23ventricular tachycardia, idiopathic10.4
24malignant hyperthermia susceptibility10.0RYR1
25arrhythmogenic right ventricular dysplasia10.0RYR1, RYR2
26congenital heart defect10.0KCNJ2, RYR2
27myopathy10.0CASQ2, RYR1
28central core myopathy10.0RYR2, RYR1
29dilated cardiomyopathy10.0CALR, RYR1, RYR2
30hypokalemic periodic paralysis10.0RYR1, KCNJ2
31long qt syndrome10.0ANK2, RYR2, KCNJ2

Graphical network of the top 20 diseases related to Catecholaminergic Polymorphic Ventricular Tachycardia:



Diseases related to catecholaminergic polymorphic ventricular tachycardia

Clinical Features for Catecholaminergic Polymorphic Ventricular Tachycardia

Drugs & Therapeutics for Catecholaminergic Polymorphic Ventricular Tachycardia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Catecholaminergic Polymorphic Ventricular Tachycardia

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20GeneTests, 22GTR
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Genetic tests related to Catecholaminergic Polymorphic Ventricular Tachycardia:

id Genetic test Affiliating Genes
1 Catecholaminergic Polymorphic Ventricular Tachycardia Multi-gene Panels20
2 Catecholaminergic Polymorphic Ventricular Tachycardia20 22 TRDN

Anatomical Context for Catecholaminergic Polymorphic Ventricular Tachycardia

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33MalaCards
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MalaCards organs/tissues related to Catecholaminergic Polymorphic Ventricular Tachycardia:

33
Heart, T cells

Animal Models for Catecholaminergic Polymorphic Ventricular Tachycardia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Catecholaminergic Polymorphic Ventricular Tachycardia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053696.8KCNJ2, CASQ2, CALR, TRDN, FKBP1B, RYR2
2MP:00107686.6RYR2, FKBP1B, ANK2, CALR, CAMP, KCNJ2
3MP:00053856.6ASPH, CALR, RYR1, RYR2, FKBP1B, ANK2
4MP:00053766.4CASQ2, KCNJ2, ASPH, CALR, ANK2, FKBP1B

Publications for Catecholaminergic Polymorphic Ventricular Tachycardia

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51PubMed
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Articles related to Catecholaminergic Polymorphic Ventricular Tachycardia:

(show top 50)    (show all 168)
idTitleAuthorsYear
1
Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT). (23549275)
2014
2
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. (24025405)
2013
3
CaMKII inhibition rectifies arrhythmic phenotype in a patient-specific model of catecholaminergic polymorphic ventricular tachycardia. (24113177)
2013
4
Efficacy of implantable cardioverter defibrillators in young patients with catecholaminergic polymorphic ventricular tachycardia: success depends on substrate. (23667268)
2013
5
Left cardiac sympathetic denervation for the management of life-threatening ventricular tachyarrhythmias in young patients with catecholaminergic polymorphic ventricular tachycardia and long QT syndrome. (22821214)
2013
6
A de novo novel cardiac ryanodine mutation (Ser4155Tyr) associated with catecholaminergic polymorphic ventricular tachycardia. (24147812)
2013
7
Effects of flecainide on exercise-induced ventricular arrhythmias and recurrences in genotype-negative patients with catecholaminergic polymorphic ventricular tachycardia. (23286974)
2013
8
Flecainide in CASQ2-mediated catecholaminergic polymorphic ventricular tachycardia: the gift that keeps on giving. (23988695)
2013
9
Catecholaminergic polymorphic ventricular tachycardia found in an adolescent after a methylenedioxymethamphetamine and marijuana-induced cardiac arrest. (22584762)
2012
10
Clinical characteristics and mutational analysis of the RyR2 gene in seven Czech families with catecholaminergic polymorphic ventricular tachycardia. (22519458)
2012
11
Effects of flecainide therapy on inappropriate shocks and arrhythmias in catecholaminergic polymorphic ventricular tachycardia. (22672791)
2012
12
Catecholaminergic polymorphic ventricular tachycardia. (23022705)
2012
13
A classic electrocardiographic manifestation of catecholaminergic polymorphic ventricular tachycardia. (21806698)
2012
14
Treatment of asymptomatic catecholaminergic polymorphic ventricular tachycardia. (22642633)
2012
15
Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives. (22787013)
2012
16
The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probands. (22383456)
2012
17
In situ confocal imaging in intact heart reveals stress-induced Ca(2+) release variability in a murine catecholaminergic polymorphic ventricular tachycardia model of type 2 ryanodine receptor(R4496C+/-) mutation. (22722659)
2012
18
Importance of ventricular tachycardia storms not terminated by implantable cardioverter defibrillators shocks in patients with CASQ2 associated catecholaminergic polymorphic ventricular tachycardia. (22481011)
2012
19
Modeling of catecholaminergic polymorphic ventricular tachycardia with patient-specific human-induced pluripotent stem cells. (22749309)
2012
20
Calcium leak through ryanodine receptors leads to atrial fibrillation in 3 mouse models of catecholaminergic polymorphic ventricular tachycardia. (22828895)
2012
21
Mechanism underlying catecholaminergic polymorphic ventricular tachycardia and approaches to therapy. (21872879)
2011
22
Role of calmodulin kinase in catecholaminergic polymorphic ventricular tachycardia. (21397047)
2011
23
Successful treatment of catecholaminergic polymorphic ventricular tachycardia with flecainide: a case report and review of the current literature. (21292648)
2011
24
Modulation of human ether a gogo related channels by CASQ2 contributes to etiology of catecholaminergic polymorphic ventricular tachycardia (CPVT). (21063088)
2010
25
Catecholaminergic polymorphic ventricular tachycardia. (20143088)
2010
26
Catecholaminergic polymorphic ventricular tachycardia is caused by mutation-linked defective conformational regulation of the ryanodine receptor. (20224043)
2010
27
Characterization of a novel mutation in the cardiac ryanodine receptor that results in catecholaminergic polymorphic ventricular tachycardia. (20676041)
2010
28
Purkinje cell calcium dysregulation is the cellular mechanism that underlies catecholaminergic polymorphic ventricular tachycardia. (20538074)
2010
29
Optimizing catecholaminergic polymorphic ventricular tachycardia therapy in calsequestrin-mutant mice. (20620233)
2010
30
Alternans in genetically modified langendorff-perfused murine hearts modeling catecholaminergic polymorphic ventricular tachycardia. (21423368)
2010
31
Molecular basis of catecholaminergic polymorphic ventricular tachycardia. (19121813)
2009
32
Left cardiac sympathetic denervation for the treatment of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia using video-assisted thoracic surgery. (19467503)
2009
33
The long QT syndrome and catecholaminergic polymorphic ventricular tachycardia. (19602163)
2009
34
Clinical experiences of patients with catecholaminergic polymorphic ventricular tachycardia. (19102802)
2009
35
Catecholaminergic polymorphic ventricular tachycardia from bedside to bench and beyond. (19068246)
2009
36
Adenosine triphosphate terminates bidirectional ventricular tachycardia in a patient with catecholaminergic polymorphic ventricular tachycardia. (18313614)
2008
37
Left cardiac sympathetic denervation for catecholaminergic polymorphic ventricular tachycardia. (18463378)
2008
38
Calcium channel blockers and beta-blockers versus beta-blockers alone for preventing exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia. (17765612)
2007
39
Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia. (17607358)
2007
40
Mechanisms of abnormal calcium homeostasis in mutations responsible for catecholaminergic polymorphic ventricular tachycardia. (17234962)
2007
41
Unraveling the mechanisms of catecholaminergic polymorphic ventricular tachycardia. (17959506)
2006
42
Molecular diagnostics of catecholaminergic polymorphic ventricular tachycardia using denaturing high-performance liquid chromatography and sequencing. (16930012)
2006
43
Catecholaminergic polymorphic ventricular tachycardia as a cause of sudden death in athletes. (16490665)
2006
44
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. (16272262)
2005
45
Unusual clinical presentation in a family with catecholaminergic polymorphic ventricular tachycardia due to a G14876A ryanodine receptor gene mutation. (15721128)
2005
46
Catecholaminergic polymorphic ventricular tachycardia. (15840485)
2005
47
Genes, exercise and sudden death: molecular basis of familial catecholaminergic polymorphic ventricular tachycardia. (15176428)
2004
48
Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardia. (11807805)
2002
49
Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. (12093772)
2002
50
Catecholaminergic Polymorphic Ventricular Tachycardia (20301466)
1993

Genetic Variations for Catecholaminergic Polymorphic Ventricular Tachycardia

Expression for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

Search GEO for disease gene expression data for Catecholaminergic Polymorphic Ventricular Tachycardia.

Pathways for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

Sources:
52QIAGEN, 38NCBI BioSystems Database, 54Reactome, 50PharmGKB
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Compounds for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience, 50PharmGKB, 2BitterDB
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Compounds related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1spermine45 29 11 2412.7CALR, KCNJ2
24-chloro-m-cresol459.7RYR2, RYR1
3cyclic adp-ribose459.6RYR1, RYR2
4procaine45 29 1111.6RYR1, RYR2
5ruthenium red299.6RYR2, RYR1
6dantrolene45 29 1111.6RYR2, RYR1
7ca2+299.4RYR1, RYR2
8naphthoquinone459.4RYR1, TRDN
9mg2+299.3RYR1, RYR2, KCNJ2
102-mercaptoethanol459.3TRDN, RYR1
11ruthenium459.2TRDN, RYR2, RYR1
12thapsigargin45 6010.2RYR1, RYR2, CALR
13carvedilol45 50 29 1112.1RYR1, RYR2, FKBP1B
14tacrolimus45 50 1111.0FKBP1B, RYR2, RYR1
15halothane45 29 1110.9RYR1, CALR
16potassium45 11 2410.9KCNJ2, CAMP, RYR2, RYR1
17chloride458.9CAMP, CALR, RYR2, RYR1
18phospholipid458.9CAMP, RYR2, RYR1
19magnesium45 11 2410.8RYR1, RYR2, CALR, KCNJ2
20inositol 1,4,5 trisphosphate458.6CALR, ANK2, RYR2, RYR1
21dihydropyridine458.6CALR, TRDN, RYR1, ASPH
22caffeine45 50 29 2 11 2413.6RYR1, RYR2, FKBP1B, TRDN
23nitric oxide45 11 2410.6CAMP, CALR, RYR2, RYR1
24glutamate458.6RYR1, RYR2, CALR, CAMP
25isoproterenol45 119.5KCNJ2, CAMP, FKBP1B, RYR2, RYR1
26lipid458.2CAMP, CALR, FKBP1B, RYR2, RYR1
27ryanodine45 29 608.9ASPH, CASQ2, CALR, ANK2, TRDN, FKBP1B
28calcium45 50 11 249.2KCNJ2, CAMP, CASQ2, CALR, ANK2, TRDN

GO Terms for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

Sources:
16Gene Ontology
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Cellular components related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated calcium channel complexGO:0058919.4CASQ2, TRDN
2intracellularGO:0056229.1CASQ2, CALR, ANK2
3junctional membrane complexGO:0303149.1TRDN, RYR1
4sarcoplasmic reticulum lumenGO:0330188.9TRDN, CASQ2, CALR, ASPH
5T-tubuleGO:0303158.9ANK2, RYR1
6Z discGO:0300188.8CASQ2, ANK2, FKBP1B, RYR2
7sarcoplasmic reticulumGO:0165298.6RYR1, TRDN, RYR2, CASQ2
8calcium channel complexGO:0347048.5CASQ2, TRDN, FKBP1B, RYR2, ASPH
9junctional sarcoplasmic reticulum membraneGO:0147018.3CASQ2, TRDN, RYR2, RYR1, ASPH
10sarcoplasmic reticulum membraneGO:0330177.8CASQ2, TRDN, FKBP1B, RYR2, RYR1, ASPH

Biological processes related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards/GeneDecks:

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1Purkinje myocyte to ventricular cardiac muscle cell signalingGO:08602910.2CASQ2, RYR2
2sequestering of calcium ionGO:05120810.1CASQ2, CALR
3regulation of membrane repolarizationGO:06030610.1KCNJ2, CASQ2
4positive regulation of sequestering of calcium ionGO:05128410.0FKBP1B, RYR2
5cell communication by electrical coupling involved in cardiac conductionGO:0860649.9FKBP1B, RYR2
6response to redox stateGO:0517759.9FKBP1B, RYR2
7protein maturation by protein foldingGO:0224179.8CALR, FKBP1B
8sarcoplasmic reticulum calcium ion transportGO:0702969.8RYR2, ANK2
9calcium-mediated signaling using intracellular calcium sourceGO:0355849.8FKBP1B, RYR2
10detection of calcium ionGO:0055139.8CASQ2, RYR2, ASPH
11positive regulation of ryanodine-sensitive calcium-release channel activityGO:0603169.8TRDN, ASPH
12regulation of ryanodine-sensitive calcium-release channel activityGO:0603149.7FKBP1B, ASPH
13regulation of cardiac muscle contractionGO:0551179.6RYR2, ANK2
14regulation of cell communication by electrical couplingGO:0106499.6ASPH, TRDN, CASQ2
15regulation of heart rateGO:0020279.6CASQ2, ANK2, RYR2
16regulation of release of sequestered calcium ion into cytosolGO:0512799.6TRDN, ANK2
17cardiac muscle contractionGO:0600489.6RYR2, ANK2, CASQ2
18regulation of ventricular cardiac muscle cell action potentialGO:0860059.5RYR2, ANK2
19response to caffeineGO:0310009.5RYR2, RYR1
20negative regulation of ryanodine-sensitive calcium-release channel activityGO:0603159.5FKBP1B, TRDN, CASQ2
21cellular response to caffeineGO:0713139.4CASQ2, RYR2, RYR1
22regulation of heart rate by cardiac conductionGO:0860919.4KCNJ2, ANK2
23regulation of protein stabilityGO:0316479.4ASPH, ANK2
24cytosolic calcium ion homeostasisGO:0514809.2FKBP1B, RYR2, RYR1
25regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:0108809.1CASQ2, TRDN, FKBP1B, ASPH
26release of sequestered calcium ion into cytosolGO:0512099.0RYR1, RYR2
27cellular calcium ion homeostasisGO:0068749.0RYR2, TRDN, ANK2, CALR
28ion transmembrane transportGO:0342208.9RYR1, RYR2, TRDN, CASQ2
29release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:0148088.7TRDN, FKBP1B, RYR2, RYR1
30regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:0108818.7ASPH, RYR2, FKBP1B, ANK2, CASQ2
31transmembrane transportGO:0550858.6CASQ2, TRDN, RYR2, RYR1
32muscle contractionGO:0069368.5TRDN, FKBP1B, RYR1, ASPH

Molecular functions related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1calcium-release channel activityGO:0152789.3RYR2, RYR1
2calcium channel activityGO:0052629.3RYR2, RYR1
3protein binding, bridgingGO:0306749.0TRDN, ANK2
4ryanodine-sensitive calcium-release channel activityGO:0052198.9RYR1, FKBP1B, RYR2
5calcium ion bindingGO:0055098.2ASPH, RYR1, CASQ2, CALR, RYR2
6ion channel bindingGO:0443258.2ANK2, TRDN, FKBP1B, RYR2, ASPH
7protein bindingGO:0055156.0CAMP, CASQ2, CALR, ASPH, RYR1, TRDN

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