CPVT2
MCID: VNT010
MIFTS: 42

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 (CPVT2)

Categories: Cardiovascular diseases, Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

MalaCards integrated aliases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 58 76 30 13 6
Stress-Induced Polymorphic Ventricular Tachycardia 76 74
Bidirectional Tachycardia 76 74
Vtsip 58 76
Cpvt2 58 76
Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 2 41
Ventricular Tachycardia, Stress-Induced Polymorphic; Vtsip 58
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 74
Catecholaminergic Polymorphic Ventricular Tachycardia 2 12
Ventricular Tachycardia, Stress-Induced Polymorphic 58
Double Tachycardia Induced by Catecholamines 76
Malignant Paroxysmal Ventricular Tachycardia 76
Paroxysmal Familial Ventricular Fibrillation 74
Multifocal Ventricular Premature Beats 76
Multifocal Premature Ventricular Beats 74
Paroxysmal Ventricular Fibrillation 76
Syncopal Paroxysmal Tachycardia 76
Syncopal Tachyarythmia 76
Multifocal Pvcs 74
Cvpt2 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
ventricular tachycardia, catecholaminergic polymorphic, 2:
Mortality/Aging sudden death
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

UniProtKB/Swiss-Prot : 76 Ventricular tachycardia, catecholaminergic polymorphic, 2: An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT2 inheritance is autosomal recessive.

MalaCards based summary : Ventricular Tachycardia, Catecholaminergic Polymorphic, 2, also known as stress-induced polymorphic ventricular tachycardia, is related to ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy and catecholaminergic polymorphic ventricular tachycardia, and has symptoms including seizures and syncope. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 is CASQ2 (Calsequestrin 2), and among its related pathways/superpathways are Myometrial Relaxation and Contraction Pathways and Antiarrhythmic Pathway, Pharmacodynamics. The drugs Propranolol and Nadolol have been mentioned in the context of this disorder. Related phenotypes are seizures and syncope

Disease Ontology : 12 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has material basis in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13.

Description from OMIM: 611938

Related Diseases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Graphical network of the top 20 diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:



Diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Symptoms & Phenotypes for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Human phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

33
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 syncope 33 HP:0001279
3 ventricular tachycardia 33 HP:0004756
4 bradycardia 33 HP:0001662

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures

Cardiovascular Heart:
sudden death
syncope
polymorphic ventricular tachycardia induced by physical activity, stress, or catecholamine infusion
bradycardia, relative resting

Clinical features from OMIM:

611938

UMLS symptoms related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:


seizures, syncope

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Drugs for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational Not Applicable 525-66-6 4946
2
Nadolol Approved Not Applicable 42200-33-9 39147
3
Atenolol Approved Not Applicable 29122-68-7 2249
4
Metoprolol Approved, Investigational Not Applicable 37350-58-6, 51384-51-1 4171
5
Atropine Approved, Vet_approved Not Applicable 51-55-8, 5908-99-6 174174
6 Adrenergic Antagonists Not Applicable
7 Adrenergic beta-Antagonists Not Applicable
8 Anti-Arrhythmia Agents Not Applicable
9 Sodium Channel Blockers Not Applicable
10 Neurotransmitter Agents Not Applicable
11 Adrenergic Agents Not Applicable
12 Diuretics, Potassium Sparing Not Applicable
13 Muscarinic Antagonists Not Applicable
14 Respiratory System Agents Not Applicable
15 Adjuvants, Anesthesia Not Applicable
16 Bronchodilator Agents Not Applicable
17 Anesthetics Not Applicable
18 Anti-Asthmatic Agents Not Applicable
19 Autonomic Agents Not Applicable
20 Cholinergic Agents Not Applicable
21 Cholinergic Antagonists Not Applicable
22 Peripheral Nervous System Agents Not Applicable
23 Mydriatics Not Applicable
24 Parasympatholytics Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias Recruiting NCT02856373 Phase 2
2 Flecainide for Catecholaminergic Polymorphic Ventricular Tachycardia Completed NCT01117454 Not Applicable Flecainide Acetate;Placebo;Beta blocker
3 Atropine in Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Completed NCT02927223 Not Applicable Atropine
4 China Inherited Ventricular Arrhythmias Registry Recruiting NCT03880708
5 Genetic Markers of Cardiovascular Disease in Epilepsy Recruiting NCT02824822
6 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias Enrolling by invitation NCT02413450

Search NIH Clinical Center for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Genetic Tests for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Genetic tests related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

# Genetic test Affiliating Genes
1 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 30 CASQ2

Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Articles related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

(show all 38)
# Title Authors Year
1
Bidirectional tachycardia after an acute intravenous administration of digitalis for a suicidal gesture. ( 25221680 )
2014
2
Ventricular fibrillation following bidirectional tachycardia due to digitalis toxicity. ( 21963751 )
2011
3
Bidirectional tachycardia in a patient with pulmonary embolism. ( 20544622 )
2010
4
Bidirectional tachycardia eliminated with radiofrequency ablation. ( 12520685 )
2002
5
Bidirectional tachycardia: two cases and a review. ( 12145041 )
2002
6
Bidirectional tachycardia. ( 9548072 )
1998
7
Bidirectional tachycardia associated with digoxin toxicity. ( 7782630 )
1995
8
Bidirectional tachycardia induced by herbal aconite poisoning. ( 1382285 )
1992
9
Bidirectional tachycardia: a new look on the mechanism. ( 2471169 )
1989
10
Bidirectional tachycardia. A sustained form, not related to digitalis intoxication, in an adult without apparent cardiac disease. ( 3172482 )
1988
11
Long-standing bidirectional tachycardia in a patient with hypokalemic periodic paralysis. ( 3351412 )
1988
12
Effects of lignocaine on bidirectional tachycardia and on digitalis-induced atrial tachycardia with block. ( 7082511 )
1982
13
Bidirectional tachycardia. Mechanism derived from intracardiac recordings and programmed electrical stimulation. ( 6182532 )
1982
14
Bidirectional tachycardia: a case. ( 7253647 )
1981
15
Transfer of coupling of premature ventricular contractions to an ectopic ventricular tachycardia: a mechanism for atypical bidirectional tachycardia. ( 422920 )
1979
16
Bidirectional tachycardia with normal QRS duration. ( 941835 )
1976
17
Bidirectional tachycardia a study of five cases. ( 1087815 )
1976
18
His bundle electrogram during bidirectional tachycardia. ( 1191437 )
1975
19
Bidirectional tachycardia in a child. A study using His bundle electrography. ( 1138739 )
1975
20
Supraventricular origin of bidirectional tachycardia. Report of a case. ( 4415990 )
1974
21
Infra-His bundle origin of bidirectional tachycardia. ( 4709543 )
1973
22
Ventricular origin of bidirectional tachycardia. Case report of a patient not toxic from digitalis. ( 4744795 )
1973
23
His bundle electrocardiography during bidirectional tachycardia. ( 4781244 )
1973
24
Bidirectional tachycardia. ( 5130932 )
1971
25
Bidirectional tachycardia. ( 4399168 )
1971
26
Bidirectional tachycardia. ( 5576805 )
1971
27
Bidirectional tachycardia. ( 5365903 )
1969
28
The mechanism of bidirectional tachycardia. ( 5794796 )
1969
29
Bidirectional tachycardia in a case of recurrent paroxysmal tachycardia with ventricular fibrillation. ( 5721307 )
1968
30
Bidirectional tachycardia. ( 6020086 )
1967
31
Bidirectional tachycardia. ( 5875151 )
1965
32
Bidirectional tachycardia. Three cases and a review of its mechanism. ( 14495276 )
1962
33
Bidirectional tachycardia. ( 13878816 )
1962
34
Bidirectional tachycardia. ( 13910711 )
1962
35
Bidirectional tachycardia. ( 13626870 )
1959
36
Alternating bidirectional tachycardia. ( 13458075 )
1957
37
Bidirectional tachycardia. ( 13268317 )
1956
38
Alternating bidirectional tachycardia. ( 14802933 )
1951

Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

UniProtKB/Swiss-Prot genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

76
# Symbol AA change Variation ID SNP ID
1 CASQ2 p.Asp307His VAR_016075 rs121434549
2 CASQ2 p.Leu167His VAR_044118 rs121434550
3 CASQ2 p.Arg33Gln VAR_055234 rs749547712
4 CASQ2 p.Lys180Arg VAR_076546 rs886039816

ClinVar genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

6 (show top 50) (show all 61)
# Gene Variation Type Significance SNP ID Assembly Location
1 CASQ2 NM_001232.3(CASQ2): c.338G> A (p.Ser113Asn) single nucleotide variant Uncertain significance rs199750975 GRCh37 Chromosome 1, 116283431: 116283431
2 CASQ2 NM_001232.3(CASQ2): c.338G> A (p.Ser113Asn) single nucleotide variant Uncertain significance rs199750975 GRCh38 Chromosome 1, 115740810: 115740810
3 CASQ2 NM_001232.3(CASQ2): c.567C> G (p.Phe189Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs146664754 GRCh37 Chromosome 1, 116275561: 116275561
4 CASQ2 NM_001232.3(CASQ2): c.567C> G (p.Phe189Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs146664754 GRCh38 Chromosome 1, 115732940: 115732940
5 CASQ2 NM_001232.3(CASQ2): c.567C> G (p.Phe189Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs146664754 NCBI36 Chromosome 1, 116077084: 116077084
6 CASQ2 NM_001232.3(CASQ2): c.376G> C (p.Asp126His) single nucleotide variant Uncertain significance rs727502908 GRCh37 Chromosome 1, 116283393: 116283393
7 CASQ2 NM_001232.3(CASQ2): c.376G> C (p.Asp126His) single nucleotide variant Uncertain significance rs727502908 GRCh38 Chromosome 1, 115740772: 115740772
8 CASQ2 NM_001232.3(CASQ2): c.118A> G (p.Lys40Glu) single nucleotide variant Uncertain significance rs786205797 GRCh37 Chromosome 1, 116311045: 116311045
9 CASQ2 NM_001232.3(CASQ2): c.118A> G (p.Lys40Glu) single nucleotide variant Uncertain significance rs786205797 GRCh38 Chromosome 1, 115768424: 115768424
10 CASQ2 NM_001232.3(CASQ2): c.919G> C (p.Asp307His) single nucleotide variant Pathogenic rs121434549 GRCh37 Chromosome 1, 116247833: 116247833
11 CASQ2 NM_001232.3(CASQ2): c.919G> C (p.Asp307His) single nucleotide variant Pathogenic rs121434549 GRCh38 Chromosome 1, 115705212: 115705212
12 CASQ2 NM_001232.3(CASQ2): c.339_354del16 (p.Ser113Argfs) deletion Pathogenic rs786205106 GRCh37 Chromosome 1, 116283415: 116283430
13 CASQ2 NM_001232.3(CASQ2): c.339_354del16 (p.Ser113Argfs) deletion Pathogenic rs786205106 GRCh38 Chromosome 1, 115740794: 115740809
14 CASQ2 NM_001232.3(CASQ2): c.500T> A (p.Leu167His) single nucleotide variant Pathogenic rs121434550 GRCh37 Chromosome 1, 116280877: 116280877
15 CASQ2 NM_001232.3(CASQ2): c.500T> A (p.Leu167His) single nucleotide variant Pathogenic rs121434550 GRCh38 Chromosome 1, 115738256: 115738256
16 CASQ2 NM_001232.3(CASQ2): c.731A> G (p.His244Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28730716 GRCh37 Chromosome 1, 116269619: 116269619
17 CASQ2 NM_001232.3(CASQ2): c.731A> G (p.His244Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28730716 GRCh38 Chromosome 1, 115726998: 115726998
18 CASQ2 NM_001232.3(CASQ2): c.62delA (p.Glu21Glyfs) deletion Pathogenic rs397507555 GRCh37 Chromosome 1, 116311101: 116311101
19 CASQ2 NM_001232.3(CASQ2): c.62delA (p.Glu21Glyfs) deletion Pathogenic rs397507555 GRCh38 Chromosome 1, 115768480: 115768480
20 CASQ2 NM_001232.3(CASQ2): c.97C> T (p.Arg33Ter) single nucleotide variant Pathogenic rs397507556 GRCh37 Chromosome 1, 116311066: 116311066
21 CASQ2 NM_001232.3(CASQ2): c.97C> T (p.Arg33Ter) single nucleotide variant Pathogenic rs397507556 GRCh38 Chromosome 1, 115768445: 115768445
22 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1005T> C (p.Asn335=) single nucleotide variant Benign/Likely benign rs28730712 GRCh37 Chromosome 1, 116245551: 116245551
23 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1005T> C (p.Asn335=) single nucleotide variant Benign/Likely benign rs28730712 GRCh38 Chromosome 1, 115702930: 115702930
24 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1014+9C> T single nucleotide variant Benign/Likely benign rs77775029 GRCh37 Chromosome 1, 116245533: 116245533
25 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1014+9C> T single nucleotide variant Benign/Likely benign rs77775029 GRCh38 Chromosome 1, 115702912: 115702912
26 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1185C> T (p.Asp395=) single nucleotide variant Benign/Likely benign rs7413162 GRCh37 Chromosome 1, 116243877: 116243877
27 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1185C> T (p.Asp395=) single nucleotide variant Benign/Likely benign rs7413162 GRCh38 Chromosome 1, 115701256: 115701256
28 CASQ2 NM_001232.3(CASQ2): c.1185_1187delCGA (p.Asp398del) deletion Conflicting interpretations of pathogenicity rs397516641 GRCh37 Chromosome 1, 116243875: 116243877
29 CASQ2 NM_001232.3(CASQ2): c.1185_1187delCGA (p.Asp398del) deletion Conflicting interpretations of pathogenicity rs397516641 GRCh38 Chromosome 1, 115701254: 115701256
30 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1194T> C (p.Asp398=) single nucleotide variant Benign/Likely benign rs28730711 GRCh37 Chromosome 1, 116243868: 116243868
31 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1194T> C (p.Asp398=) single nucleotide variant Benign/Likely benign rs28730711 GRCh38 Chromosome 1, 115701247: 115701247
32 CASQ2 NM_001232.3(CASQ2): c.196A> G (p.Thr66Ala) single nucleotide variant Benign rs4074536 GRCh37 Chromosome 1, 116310967: 116310967
33 CASQ2 NM_001232.3(CASQ2): c.196A> G (p.Thr66Ala) single nucleotide variant Benign rs4074536 GRCh38 Chromosome 1, 115768346: 115768346
34 CASQ2 NM_001232.3(CASQ2): c.226G> A (p.Val76Met) single nucleotide variant Benign/Likely benign rs10801999 GRCh37 Chromosome 1, 116310937: 116310937
35 CASQ2 NM_001232.3(CASQ2): c.226G> A (p.Val76Met) single nucleotide variant Benign/Likely benign rs10801999 GRCh38 Chromosome 1, 115768316: 115768316
36 CASQ2 NM_001232.3(CASQ2): c.420+6T> C single nucleotide variant Benign rs9428083 GRCh37 Chromosome 1, 116283343: 116283343
37 CASQ2 NM_001232.3(CASQ2): c.420+6T> C single nucleotide variant Benign rs9428083 GRCh38 Chromosome 1, 115740722: 115740722
38 CASQ2 NM_001232.3(CASQ2): c.421-14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs139281637 GRCh37 Chromosome 1, 116280970: 116280970
39 CASQ2 NM_001232.3(CASQ2): c.421-14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs139281637 GRCh38 Chromosome 1, 115738349: 115738349
40 CASQ2 NM_001232.3(CASQ2): c.421-15C> G single nucleotide variant Conflicting interpretations of pathogenicity rs199939582 GRCh37 Chromosome 1, 116280971: 116280971
41 CASQ2 NM_001232.3(CASQ2): c.421-15C> G single nucleotide variant Conflicting interpretations of pathogenicity rs199939582 GRCh38 Chromosome 1, 115738350: 115738350
42 CASQ2 NM_001232.3(CASQ2): c.784-17T> A single nucleotide variant Benign rs2997741 GRCh38 Chromosome 1, 115717911: 115717911
43 CASQ2 NM_001232.3(CASQ2): c.784-17T> A single nucleotide variant Benign rs2997741 GRCh37 Chromosome 1, 116260532: 116260532
44 CASQ2 NM_001232.3(CASQ2): c.539A> G (p.Lys180Arg) single nucleotide variant Pathogenic rs886039816 GRCh37 Chromosome 1, 116275589: 116275589
45 CASQ2 NM_001232.3(CASQ2): c.539A> G (p.Lys180Arg) single nucleotide variant Pathogenic rs886039816 GRCh38 Chromosome 1, 115732968: 115732968
46 CASQ2 NM_001232.3(CASQ2): c.783G> A (p.Trp261Ter) single nucleotide variant Likely pathogenic rs776874142 GRCh37 Chromosome 1, 116268129: 116268129
47 CASQ2 NM_001232.3(CASQ2): c.783G> A (p.Trp261Ter) single nucleotide variant Likely pathogenic rs776874142 GRCh38 Chromosome 1, 115725508: 115725508
48 CASQ2 NM_001232.3(CASQ2): c.164A> G (p.Tyr55Cys) single nucleotide variant Likely pathogenic rs1436844070 GRCh37 Chromosome 1, 116310999: 116310999
49 CASQ2 NM_001232.3(CASQ2): c.164A> G (p.Tyr55Cys) single nucleotide variant Likely pathogenic rs1436844070 GRCh38 Chromosome 1, 115768378: 115768378
50 RYR2 NM_001035.2(RYR2): c.11996T> C (p.Met3999Thr) single nucleotide variant Likely pathogenic rs1553322494 GRCh38 Chromosome 1, 237783708: 237783708

Expression for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Search GEO for disease gene expression data for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2.

Pathways for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Pathways related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.45 CASQ2 RYR2
2 10.37 CASQ2 RYR2

GO Terms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Cellular components related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.32 CASQ2 RYR2
2 sarcoplasmic reticulum GO:0016529 9.26 CASQ2 RYR2
3 sarcoplasmic reticulum membrane GO:0033017 9.16 CASQ2 RYR2
4 calcium channel complex GO:0034704 8.96 CASQ2 RYR2
5 junctional sarcoplasmic reticulum membrane GO:0014701 8.62 CASQ2 RYR2

Biological processes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.43 CASQ2 RYR2
2 cardiac muscle contraction GO:0060048 9.4 CASQ2 RYR2
3 regulation of cardiac conduction GO:1903779 9.37 CASQ2 RYR2
4 regulation of heart rate GO:0002027 9.32 CASQ2 RYR2
5 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.26 CASQ2 RYR2
6 detection of calcium ion GO:0005513 9.16 CASQ2 RYR2
7 cellular response to caffeine GO:0071313 8.96 CASQ2 RYR2
8 Purkinje myocyte to ventricular cardiac muscle cell signaling GO:0086029 8.62 CASQ2 RYR2

Molecular functions related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 8.62 CASQ2 RYR2

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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