CPVT2
MCID: VNT010
MIFTS: 30

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 57 75 29 13 6
Stress-Induced Polymorphic Ventricular Tachycardia 75 73
Bidirectional Tachycardia 75 73
Vtsip 57 75
Cpvt2 57 75
Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 2 40
Ventricular Tachycardia, Stress-Induced Polymorphic; Vtsip 57
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 73
Catecholaminergic Polymorphic Ventricular Tachycardia 2 12
Ventricular Tachycardia, Stress-Induced Polymorphic 57
Double Tachycardia Induced by Catecholamines 75
Malignant Paroxysmal Ventricular Tachycardia 75
Paroxysmal Familial Ventricular Fibrillation 73
Multifocal Ventricular Premature Beats 75
Multifocal Premature Ventricular Beats 73
Paroxysmal Ventricular Fibrillation 75
Syncopal Paroxysmal Tachycardia 75
Syncopal Tachyarythmia 75
Multifocal Pvcs 73
Cvpt2 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ventricular tachycardia, catecholaminergic polymorphic, 2:
Mortality/Aging sudden death
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

UniProtKB/Swiss-Prot : 75 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 bidirectional tachycardia and paroxysmal ventricular fibrillation, and has symptoms including seizures and syncope. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 is CASQ2 (Calsequestrin 2). 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 syncope 32 HP:0001279
3 ventricular tachycardia 32 HP:0004756
4 bradycardia 32 HP:0001662

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


seizures, syncope

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Search Clinical Trials , 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 29 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:

75
# 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.919G> C (p.Asp307His) single nucleotide variant Pathogenic rs121434549 GRCh37 Chromosome 1, 116247833: 116247833
2 CASQ2 NM_001232.3(CASQ2): c.919G> C (p.Asp307His) single nucleotide variant Pathogenic rs121434549 GRCh38 Chromosome 1, 115705212: 115705212
3 CASQ2 NM_001232.3(CASQ2): c.339_354del16 (p.Ser113Argfs) deletion Pathogenic rs786205106 GRCh37 Chromosome 1, 116283415: 116283430
4 CASQ2 NM_001232.3(CASQ2): c.339_354del16 (p.Ser113Argfs) deletion Pathogenic rs786205106 GRCh38 Chromosome 1, 115740794: 115740809
5 CASQ2 NM_001232.3(CASQ2): c.500T> A (p.Leu167His) single nucleotide variant Pathogenic rs121434550 GRCh37 Chromosome 1, 116280877: 116280877
6 CASQ2 NM_001232.3(CASQ2): c.500T> A (p.Leu167His) single nucleotide variant Pathogenic rs121434550 GRCh38 Chromosome 1, 115738256: 115738256
7 CASQ2 NM_001232.3(CASQ2): c.731A> G (p.His244Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28730716 GRCh37 Chromosome 1, 116269619: 116269619
8 CASQ2 NM_001232.3(CASQ2): c.731A> G (p.His244Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28730716 GRCh38 Chromosome 1, 115726998: 115726998
9 CASQ2 NM_001232.3(CASQ2): c.62delA (p.Glu21Glyfs) deletion Pathogenic rs397507555 GRCh37 Chromosome 1, 116311101: 116311101
10 CASQ2 NM_001232.3(CASQ2): c.62delA (p.Glu21Glyfs) deletion Pathogenic rs397507555 GRCh38 Chromosome 1, 115768480: 115768480
11 CASQ2 NM_001232.3(CASQ2): c.97C> T (p.Arg33Ter) single nucleotide variant Pathogenic rs397507556 GRCh37 Chromosome 1, 116311066: 116311066
12 CASQ2 NM_001232.3(CASQ2): c.97C> T (p.Arg33Ter) single nucleotide variant Pathogenic rs397507556 GRCh38 Chromosome 1, 115768445: 115768445
13 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1005T> C (p.Asn335=) single nucleotide variant Benign/Likely benign rs28730712 GRCh37 Chromosome 1, 116245551: 116245551
14 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1005T> C (p.Asn335=) single nucleotide variant Benign/Likely benign rs28730712 GRCh38 Chromosome 1, 115702930: 115702930
15 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1014+9C> T single nucleotide variant Benign/Likely benign rs77775029 GRCh37 Chromosome 1, 116245533: 116245533
16 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1014+9C> T single nucleotide variant Benign/Likely benign rs77775029 GRCh38 Chromosome 1, 115702912: 115702912
17 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1185C> T (p.Asp395=) single nucleotide variant Benign/Likely benign rs7413162 GRCh37 Chromosome 1, 116243877: 116243877
18 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1185C> T (p.Asp395=) single nucleotide variant Benign/Likely benign rs7413162 GRCh38 Chromosome 1, 115701256: 115701256
19 CASQ2 NM_001232.3(CASQ2): c.1185_1187delCGA (p.Asp398del) deletion Conflicting interpretations of pathogenicity rs397516641 GRCh37 Chromosome 1, 116243875: 116243877
20 CASQ2 NM_001232.3(CASQ2): c.1185_1187delCGA (p.Asp398del) deletion Conflicting interpretations of pathogenicity rs397516641 GRCh38 Chromosome 1, 115701254: 115701256
21 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1194T> C (p.Asp398=) single nucleotide variant Benign/Likely benign rs28730711 GRCh37 Chromosome 1, 116243868: 116243868
22 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1194T> C (p.Asp398=) single nucleotide variant Benign/Likely benign rs28730711 GRCh38 Chromosome 1, 115701247: 115701247
23 CASQ2 NM_001232.3(CASQ2): c.196A> G (p.Thr66Ala) single nucleotide variant Benign rs4074536 GRCh37 Chromosome 1, 116310967: 116310967
24 CASQ2 NM_001232.3(CASQ2): c.196A> G (p.Thr66Ala) single nucleotide variant Benign rs4074536 GRCh38 Chromosome 1, 115768346: 115768346
25 CASQ2 NM_001232.3(CASQ2): c.226G> A (p.Val76Met) single nucleotide variant Benign/Likely benign rs10801999 GRCh37 Chromosome 1, 116310937: 116310937
26 CASQ2 NM_001232.3(CASQ2): c.226G> A (p.Val76Met) single nucleotide variant Benign/Likely benign rs10801999 GRCh38 Chromosome 1, 115768316: 115768316
27 CASQ2 NM_001232.3(CASQ2): c.420+6T> C single nucleotide variant Benign rs9428083 GRCh37 Chromosome 1, 116283343: 116283343
28 CASQ2 NM_001232.3(CASQ2): c.420+6T> C single nucleotide variant Benign rs9428083 GRCh38 Chromosome 1, 115740722: 115740722
29 CASQ2 NM_001232.3(CASQ2): c.421-14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs139281637 GRCh37 Chromosome 1, 116280970: 116280970
30 CASQ2 NM_001232.3(CASQ2): c.421-14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs139281637 GRCh38 Chromosome 1, 115738349: 115738349
31 CASQ2 NM_001232.3(CASQ2): c.421-15C> G single nucleotide variant Conflicting interpretations of pathogenicity rs199939582 GRCh37 Chromosome 1, 116280971: 116280971
32 CASQ2 NM_001232.3(CASQ2): c.421-15C> G single nucleotide variant Conflicting interpretations of pathogenicity rs199939582 GRCh38 Chromosome 1, 115738350: 115738350
33 CASQ2 NM_001232.3(CASQ2): c.338G> A (p.Ser113Asn) single nucleotide variant Uncertain significance rs199750975 GRCh37 Chromosome 1, 116283431: 116283431
34 CASQ2 NM_001232.3(CASQ2): c.338G> A (p.Ser113Asn) single nucleotide variant Uncertain significance rs199750975 GRCh38 Chromosome 1, 115740810: 115740810
35 CASQ2 NM_001232.3(CASQ2): c.567C> G (p.Phe189Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs146664754 GRCh37 Chromosome 1, 116275561: 116275561
36 CASQ2 NM_001232.3(CASQ2): c.567C> G (p.Phe189Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs146664754 GRCh38 Chromosome 1, 115732940: 115732940
37 CASQ2 NM_001232.3(CASQ2): c.567C> G (p.Phe189Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs146664754 NCBI36 Chromosome 1, 116077084: 116077084
38 CASQ2 NM_001232.3(CASQ2): c.376G> C (p.Asp126His) single nucleotide variant Uncertain significance rs727502908 GRCh37 Chromosome 1, 116283393: 116283393
39 CASQ2 NM_001232.3(CASQ2): c.376G> C (p.Asp126His) single nucleotide variant Uncertain significance rs727502908 GRCh38 Chromosome 1, 115740772: 115740772
40 CASQ2 NM_001232.3(CASQ2): c.118A> G (p.Lys40Glu) single nucleotide variant Uncertain significance rs786205797 GRCh37 Chromosome 1, 116311045: 116311045
41 CASQ2 NM_001232.3(CASQ2): c.118A> G (p.Lys40Glu) single nucleotide variant Uncertain significance rs786205797 GRCh38 Chromosome 1, 115768424: 115768424
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 GRCh37 Chromosome 1, 116310999: 116310999
49 CASQ2 NM_001232.3(CASQ2): c.164A> G (p.Tyr55Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 115768378: 115768378
50 RYR2 NM_001035.2(RYR2): c.11996T> C (p.Met3999Thr) single nucleotide variant Likely pathogenic 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

GO Terms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....