CPVT
MCID: CTC001
MIFTS: 51

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) malady

Genetic diseases category

Summaries for Catecholaminergic Polymorphic Ventricular Tachycardia

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42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 long qt syndrome and sudden cardiac death multi-gene panels. 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 testes, 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:63 Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a rhythm disorder of the ventricles of... more...

GeneReviews summary for cvt

Aliases & Classifications for Catecholaminergic Polymorphic Ventricular Tachycardia

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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 60UMLS, 44Novoseek
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Classifications:

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


Aliases & Descriptions:

catecholaminergic polymorphic ventricular tachycardia 19 42 20 22 21
catecholamine-induced polymorphic ventricular tachycardia 19 42 21
familial polymorphic ventricular tachycardia 19 42 21
fpvt 19 21
cpvt 19 21
ventricular tachycardia, catecholaminergic polymorphic, 1 60
ventricular tachycardia, catecholaminergic polymorphic 44
bidirectional tachycardia induced by catecholamines 21
bidirectional tachycardia induced by catecholamine 42
ventricular tachycardia, familial polymorphic 44
double tachycardia induced by catecholamines 42
cvpt 42


Related Diseases for Catecholaminergic Polymorphic Ventricular Tachycardia

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17GeneCards, 18GeneDecks
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Diseases in the Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 family:

catecholaminergic polymorphic ventricular tachycardia Ryr2-Related Catecholaminergic Polymorphic Ventricular Tachycardia
Casq2-Related Catecholaminergic Polymorphic Ventricular Tachycardia Trdn-Related Catecholaminergic Polymorphic Ventricular Tachycardia
Calm1-Related Catecholaminergic Polymorphic Ventricular Tachycardia Ventricular Tachycardia, Catecholaminergic Polymorphic, 1
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 24)
idRelated DiseaseScoreTop Affiliating Genes
1long qt syndrome31.1RYR2, ANK2, KCNJ2
2sudden cardiac death multi-gene panels30.5KCNJ2, ANK2, FKBP1B, RYR2, RYR1
3malignant hyperthermia30.5RYR1, RYR2, CASQ2
4brugada syndrome10.6
5ryr2-related catecholaminergic polymorphic ventricular tachycardia10.5
6casq2-related catecholaminergic polymorphic ventricular tachycardia10.5
7trdn-related catecholaminergic polymorphic ventricular tachycardia10.5
8calm1-related catecholaminergic polymorphic ventricular tachycardia10.5
9ventricular tachycardia, catecholaminergic polymorphic, 110.5
10ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness10.5
11ventricular tachycardia, catecholaminergic polymorphic, 310.5
12ventricular tachycardia, catecholaminergic polymorphic, 410.5
13andersen-tawil syndrome10.3
14short qt syndrome10.3
15familial ventricular tachycardia10.3
16long qt syndrome 410.3
17ventricular tachycardia, catecholaminergic polymorphic, 210.3
18malignant hyperthermia susceptibility10.0RYR1
19arrhythmogenic right ventricular dysplasia10.0RYR1, RYR2
20congenital heart defect10.0RYR2, KCNJ2
21myopathy10.0RYR1, CASQ2
22central core myopathy10.0RYR1, RYR2
23dilated cardiomyopathy10.0RYR1, RYR2, CALR
24hypokalemic periodic paralysis10.0RYR1, 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

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Drugs & Therapeutics for Catecholaminergic Polymorphic Ventricular Tachycardia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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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MalaCards organs/tissues related to Catecholaminergic Polymorphic Ventricular Tachycardia:

32
Heart, Testes

Animal Models for Catecholaminergic Polymorphic Ventricular Tachycardia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Catecholaminergic Polymorphic Ventricular Tachycardia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053696.8ASPH, KCNJ2, CASQ2, CALR, TRDN, FKBP1B
2MP:00107686.6CAMP, CALR, ANK2, FKBP1B, RYR2, RYR1
3MP:00053856.6KCNJ2, CASQ2, CALR, ANK2, FKBP1B, RYR2
4MP:00053766.4KCNJ2, CASQ2, CALR, ANK2, FKBP1B, RYR2

Publications for Catecholaminergic Polymorphic Ventricular Tachycardia

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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
Ca2+ signaling in human induced pluripotent stem cell-derived cardiomyocytes (iPS-CM) from normal and catecholaminergic polymorphic ventricular tachycardia (CPVT)-afflicted subjects. (23684427)
2013
3
Catecholaminergic polymorphic ventricular tachycardia: from bench to bedside. (23390049)
2013
4
Flecainide therapy suppresses exercise-induced ventricular arrhythmias in patients with CASQ2-associated catecholaminergic polymorphic ventricular tachycardia. (23954267)
2013
5
Efficacy of implantable cardioverter defibrillators in young patients with catecholaminergic polymorphic ventricular tachycardia: success depends on substrate. (23667268)
2013
6
The phenotype of a CASQ2 mutation in a Saudi family with catecholaminergic polymorphic ventricular tachycardia. (22650415)
2013
7
Triple mode of action of flecainide in catecholaminergic polymorphic ventricular tachycardia. (23512981)
2013
8
Accelerated sinus rhythm prevents catecholaminergic polymorphic ventricular tachycardia in mice and in patients. (23295832)
2013
9
A classic electrocardiographic manifestation of catecholaminergic polymorphic ventricular tachycardia. (21806698)
2012
10
Treatment of asymptomatic catecholaminergic polymorphic ventricular tachycardia. (22642633)
2012
11
Flecainide suppresses defibrillator-induced storming in catecholaminergic polymorphic ventricular tachycardia. (22553997)
2012
12
Novel ryanodine receptor 2 mutation associated with a severe phenotype of catecholaminergic polymorphic ventricular tachycardia. (22608700)
2012
13
Intravenous epinephrine infusion test in diagnosis of catecholaminergic polymorphic ventricular tachycardia. (21954897)
2012
14
Case of undiagnosed catecholaminergic polymorphic ventricular tachycardia presenting with ventricular fibrillation after administration of succinylcholine during anesthesia for modified electroconvulsive therapy. (21682817)
2011
15
Mutation-linked defective interdomain interactions within ryanodine receptor cause aberrant CaA^a8_release leading to catecholaminergic polymorphic ventricular tachycardia. (21768539)
2011
16
Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry. (21148745)
2011
17
Inhibition of cardiac Ca2+ release channels (RyR2) determines efficacy of class I antiarrhythmic drugs in catecholaminergic polymorphic ventricular tachycardia. (21270101)
2011
18
Possible targets of therapy for catecholaminergic polymorphic ventricular tachycardia. - Insight from a theoretical model -. (21646727)
2011
19
An unusual catecholaminergic polymorphic ventricular tachycardia not inducible at stress test. (21397961)
2011
20
Deadly proposal: a case of catecholaminergic polymorphic ventricular tachycardia. (22068070)
2011
21
Short communication: flecainide exerts an antiarrhythmic effect in a mouse model of catecholaminergic polymorphic ventricular tachycardia by increasing the threshold for triggered activity. (21680895)
2011
22
How to perform and interpret provocative testing for the diagnosis of Brugada syndrome, long-QT syndrome, and catecholaminergic polymorphic ventricular tachycardia. (22203660)
2011
23
The role of thoracic epidural blockade in predicting responsiveness to left sympathetic denervation in patients with catecholaminergic polymorphic ventricular tachycardia. (21036064)
2011
24
Dantrolene, a therapeutic agent for malignant hyperthermia, inhibits catecholaminergic polymorphic ventricular tachycardia in a RyR2(R2474S/+) knock-in mouse model. (20944434)
2010
25
Catecholaminergic polymorphic ventricular tachycardia is caused by mutation-linked defective conformational regulation of the ryanodine receptor. (20224043)
2010
26
Unmasking false epilepsy: Catecholaminergic polymorphic ventricular tachycardia. (20104466)
2010
27
The catecholaminergic polymorphic ventricular tachycardia mutation R33Q disrupts the N-terminal structural motif that regulates reversible calsequestrin polymerization. (20353949)
2010
28
Purkinje cell calcium dysregulation is the cellular mechanism that underlies catecholaminergic polymorphic ventricular tachycardia. (20538074)
2010
29
Delayed maximal response to left cardiac sympathectomy for catecholaminergic polymorphic ventricular tachycardia. (20219758)
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
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. (19926015)
2009
33
Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia. (19216760)
2009
34
The long QT syndrome and catecholaminergic polymorphic ventricular tachycardia. (19602163)
2009
35
A case with catecholaminergic polymorphic ventricular tachycardia unmasked after successful ablation of atrial tachycardias from pulmonary veins. (19712071)
2009
36
A case of catecholaminergic polymorphic ventricular tachycardia. (19568611)
2009
37
Adenosine triphosphate terminates bidirectional ventricular tachycardia in a patient with catecholaminergic polymorphic ventricular tachycardia. (18313614)
2008
38
Catecholaminergic polymorphic ventricular tachycardia. (18634915)
2008
39
Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia. (17607358)
2007
40
Molecular and electrophysiological bases of catecholaminergic polymorphic ventricular tachycardia. (17578347)
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
Distinct U wave changes in patients with catecholaminergic polymorphic ventricular tachycardia (CPVT). (16823244)
2006
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: successful emergency treatment with intravenous propranolol. (15094576)
2004
47
Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardia. (11807805)
2002
48
Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. (12093772)
2002
49
Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. (11208676)
2001
50
Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. (7867192)
1995

Genetic Variations for Catecholaminergic Polymorphic Ventricular Tachycardia

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Expression for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

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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

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51QIAGEN, 37NCBI BioSystems Database, 53Reactome, 49PharmGKB
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Compounds for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

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44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience, 49PharmGKB, 2BitterDB
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Compounds related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1spermine44 28 11 2412.7CALR, KCNJ2
24-chloro-m-cresol449.7RYR2, RYR1
3cyclic adp-ribose449.6RYR1, RYR2
4procaine44 28 1111.6RYR1, RYR2
5ruthenium red289.6RYR2, RYR1
6dantrolene44 28 1111.6RYR2, RYR1
7ca2+289.4RYR1, RYR2
8naphthoquinone449.4RYR1, TRDN
9mg2+289.3RYR1, RYR2, KCNJ2
102-mercaptoethanol449.3TRDN, RYR1
11ruthenium449.2TRDN, RYR2, RYR1
12thapsigargin44 5910.2RYR1, RYR2, CALR
13carvedilol44 49 28 1112.1RYR1, RYR2, FKBP1B
14tacrolimus44 49 1111.0FKBP1B, RYR2, RYR1
15halothane44 28 1110.9RYR1, CALR
16potassium44 11 2410.9KCNJ2, CAMP, RYR2, RYR1
17chloride448.9CAMP, CALR, RYR2, RYR1
18phospholipid448.9CAMP, RYR2, RYR1
19magnesium44 11 2410.8RYR1, RYR2, CALR, KCNJ2
20inositol 1,4,5 trisphosphate448.6CALR, ANK2, RYR2, RYR1
21dihydropyridine448.6CALR, TRDN, RYR1, ASPH
22caffeine44 49 28 2 11 2413.6RYR1, RYR2, FKBP1B, TRDN
23nitric oxide44 11 2410.6CAMP, CALR, RYR2, RYR1
24glutamate448.6RYR1, RYR2, CALR, CAMP
25isoproterenol44 119.5KCNJ2, CAMP, FKBP1B, RYR2, RYR1
26lipid448.2CAMP, CALR, FKBP1B, RYR2, RYR1
27ryanodine44 28 598.9ASPH, CASQ2, CALR, ANK2, TRDN, FKBP1B
28calcium44 49 11 249.2KCNJ2, CAMP, CASQ2, CALR, ANK2, TRDN

GO Terms for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

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

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:0052629.3RYR1, RYR2
3protein binding, bridgingGO:0306749.0TRDN, ANK2
4ryanodine-sensitive calcium-release channel activityGO:0052198.9FKBP1B, RYR2, RYR1
5calcium ion bindingGO:0055098.2ASPH, RYR1, RYR2, CALR, CASQ2
6ion channel bindingGO:0443258.2ASPH, RYR2, FKBP1B, TRDN, ANK2
7protein bindingGO:0055156.0CAMP, CASQ2, CALR, ANK2, TRDN, FKBP1B

Products for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

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