CPVT4
MCID: VNT029
MIFTS: 35

Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 (CPVT4)

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

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

MalaCards integrated aliases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 57 72 29 13 6 70
Catecholaminergic Polymorphic Ventricular Tachycardia 4 12 15
Stress-Induced Polymorphic Ventricular Tachycardia 72 70
Bidirectional Tachycardia 72 70
Cpvt4 57 72
Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 4 39
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 70
Double Tachycardia Induced by Catecholamines 72
Malignant Paroxysmal Ventricular Tachycardia 72
Paroxysmal Familial Ventricular Fibrillation 70
Multifocal Ventricular Premature Beats 72
Multifocal Premature Ventricular Beats 70
Paroxysmal Ventricular Fibrillation 72
Syncopal Paroxysmal Tachycardia 72
Syncopal Tachyarythmia 72
Multifocal Pvcs 70
Vtsip 72
Cvpt4 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset within the first decade of life


HPO:

31
ventricular tachycardia, catecholaminergic polymorphic, 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060678
OMIM® 57 614916
OMIM Phenotypic Series 57 PS604772
MeSH 44 D017180
ICD10 32 I47.2
UMLS 70 C0264903 C0340493 C1631597 more

Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

UniProtKB/Swiss-Prot : 72 Ventricular tachycardia, catecholaminergic polymorphic, 4: 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. CPVT4 inheritance is autosomal dominant.

MalaCards based summary : Ventricular Tachycardia, Catecholaminergic Polymorphic, 4, also known as catecholaminergic polymorphic ventricular tachycardia 4, is related to catecholaminergic polymorphic ventricular tachycardia and ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy, and has symptoms including seizures, syncope and dizziness. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 is CALM1 (Calmodulin 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and Cardiac conduction. Affiliated tissues include heart, and related phenotypes are vertigo and syncope

Disease Ontology : 12 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has material basis in heterozygous mutation in the CALM1 gene on chromosome 14q32.

More information from OMIM: 614916 PS604772

Related Diseases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Diseases in the Catecholaminergic Polymorphic Ventricular Tachycardia family:

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 Catecholaminergic Polymorphic Ventricular Tachycardia 5

Diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 catecholaminergic polymorphic ventricular tachycardia 31.5 KCNQ1 CALM1
2 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 31.4 KCNQ1 CALM1
3 long qt syndrome 1 29.9 KCNQ1 CALM1
4 cardiac arrest 29.3 KCNQ1 CALM1
5 ventricular fibrillation, paroxysmal familial, 2 11.6
6 bidirectional tachycardia 11.5
7 paroxysmal ventricular fibrillation 11.5
8 idiopathic ventricular fibrillation, non brugada type 11.3
9 ventricular tachycardia, catecholaminergic polymorphic, 2 11.2
10 syncope 10.2
11 ventricular fibrillation, paroxysmal familial, 1 10.1
12 progressive familial heart block, type ia 10.0
13 jervell and lange-nielsen syndrome 1 10.0
14 measles 10.0
15 seizure disorder 10.0
16 arrhythmogenic right ventricular dysplasia, familial, 2 9.9
17 arrhythmogenic right ventricular cardiomyopathy 9.9
18 hypokalemic periodic paralysis, type 1 9.9
19 progressive familial heart block, type ib 9.9
20 orthostatic intolerance 9.9
21 left bundle branch hemiblock 9.9
22 right bundle branch block 9.9
23 enthesopathy 9.9
24 aortic aneurysm 9.9
25 pulmonary embolism 9.9
26 periodic paralysis 9.9
27 digitalis poisoning 9.9
28 long qt syndrome 14 9.8 KCNQ1 CALM1
29 long qt syndrome 9.7 KCNQ1 CALM1
30 familial long qt syndrome 9.7 KCNQ1 CALM1
31 long qt syndrome 2 9.7 KCNQ1 CALM1
32 heart conduction disease 9.6 KCNQ1 CALM1
33 brugada syndrome 9.5 KCNQ1 CALM1

Graphical network of the top 20 diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:



Diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Symptoms & Phenotypes for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Human phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

31
# Description HPO Frequency HPO Source Accession
1 vertigo 31 HP:0002321
2 syncope 31 HP:0001279
3 ventricular tachycardia 31 HP:0004756
4 cardiac arrest 31 HP:0001695
5 sudden death 31 HP:0001699

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
syncope
cardiac arrest
sudden death
dizziness
polymorphic ventricular tachycardia induced by physical activity or stress
more

Clinical features from OMIM®:

614916 (Updated 05-Apr-2021)

UMLS symptoms related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:


seizures; syncope; dizziness

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Search Clinical Trials , NIH Clinical Center for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Genetic Tests for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Genetic tests related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

# Genetic test Affiliating Genes
1 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 29 CALM1

Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

MalaCards organs/tissues related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

40
Heart

Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Articles related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

(show all 18)
# Title Authors PMID Year
1
Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. 6 57
23040497 2012
2
Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes. 6
28158429 2017
3
The Arrhythmogenic Calmodulin p.Phe142Leu Mutation Impairs C-domain Ca2+ Binding but Not Calmodulin-dependent Inhibition of the Cardiac Ryanodine Receptor. 6
27927985 2017
4
Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes. 6
27374306 2016
5
Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current. 6
27165696 2016
6
Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G. 6
26969752 2016
7
Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease. 6
26164367 2015
8
Arrhythmogenic Calmodulin Mutations Affect the Activation and Termination of Cardiac Ryanodine Receptor-mediated Ca2+ Release. 6
26309258 2015
9
Calmodulin mutations causing catecholaminergic polymorphic ventricular tachycardia confer opposing functional and biophysical molecular changes. 6
25557436 2015
10
Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes. 6
24816216 2014
11
Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms. 6
24958779 2014
12
Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants. 6
24563457 2014
13
Calmodulin in a heartbeat. 6
23663249 2013
14
Calmodulin mutations associated with recurrent cardiac arrest in infants. 6
23388215 2013
15
Conditional ablation and conditional rescue models for Casq2 elucidate the role of development and of cell-type specific expression of Casq2 in the CPVT2 phenotype. 61
29452352 2018
16
Denaturing HPLC-based approach for detecting RYR2 mutations involved in malignant arrhythmias. 61
15131021 2004
17
The binding of the RyR2 calcium channel to its gating protein FKBP12.6 is oppositely affected by ARVD2 and VTSIP mutations. 61
12459180 2002
18
Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. 61
10588221 1999

Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

ClinVar genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

6 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CALM1 NM_006888.6(CALM1):c.394G>A (p.Asp132Asn) SNV Pathogenic 639902 rs1595102640 GRCh37: 14:90870831-90870831
GRCh38: 14:90404487-90404487
2 CALM1 NM_006888.6(CALM1):c.395A>T (p.Asp132Val) SNV Pathogenic 948239 GRCh37: 14:90870832-90870832
GRCh38: 14:90404488-90404488
3 CALM1 NM_006888.6(CALM1):c.426C>A (p.Phe142Leu) SNV Pathogenic 961658 GRCh37: 14:90871037-90871037
GRCh38: 14:90404693-90404693
4 CALM1 NM_006888.6(CALM1):c.293A>G (p.Asn98Ser) SNV Pathogenic 39758 rs267607277 GRCh37: 14:90870730-90870730
GRCh38: 14:90404386-90404386
5 CALM1 NM_006888.6(CALM1):c.161A>T (p.Asn54Ile) SNV Likely pathogenic 39757 rs267607276 GRCh37: 14:90867729-90867729
GRCh38: 14:90401385-90401385
6 CALM1 NM_006888.6(CALM1):c.293A>G (p.Asn98Ser) SNV Likely pathogenic 39758 rs267607277 GRCh37: 14:90870730-90870730
GRCh38: 14:90404386-90404386
7 CALM1 NM_006888.6(CALM1):c.398G>A (p.Gly133Glu) SNV Likely pathogenic 542137 rs1555366045 GRCh37: 14:90870835-90870835
GRCh38: 14:90404491-90404491
8 CALM1 NM_006888.6(CALM1):c.78C>T (p.Gly26=) SNV Uncertain significance 475383 rs1555365884 GRCh37: 14:90867646-90867646
GRCh38: 14:90401302-90401302
9 CALM1 NM_006888.6(CALM1):c.157A>G (p.Ile53Val) SNV Uncertain significance 475380 rs1555365887 GRCh37: 14:90867725-90867725
GRCh38: 14:90401381-90401381
10 CALM1 NM_006888.6(CALM1):c.301A>G (p.Ile101Val) SNV Uncertain significance 644229 rs1595102592 GRCh37: 14:90870738-90870738
GRCh38: 14:90404394-90404394
11 CALM1 NM_006888.6(CALM1):c.280G>C (p.Asp94His) SNV Uncertain significance 945682 GRCh37: 14:90870307-90870307
GRCh38: 14:90403963-90403963
12 CALM1 NM_006888.6(CALM1):c.72C>T (p.Gly24=) SNV Uncertain significance 162063 rs267607278 GRCh37: 14:90867640-90867640
GRCh38: 14:90401296-90401296
13 CALM1 NM_006888.6(CALM1):c.106G>C (p.Val36Leu) SNV Uncertain significance 845207 GRCh37: 14:90867674-90867674
GRCh38: 14:90401330-90401330
14 CALM1 NM_006888.6(CALM1):c.324C>T (p.His108=) SNV Likely benign 389896 rs139706811 GRCh37: 14:90870761-90870761
GRCh38: 14:90404417-90404417
15 CALM1 NM_006888.6(CALM1):c.69T>C (p.Asp23=) SNV Likely benign 475382 rs144339242 GRCh37: 14:90867637-90867637
GRCh38: 14:90401293-90401293
16 CALM1 NM_006888.6(CALM1):c.273A>G (p.Arg91=) SNV Likely benign 542138 rs1211887414 GRCh37: 14:90870300-90870300
GRCh38: 14:90403956-90403956
17 CALM1 NM_006888.6(CALM1):c.411C>G (p.Val137=) SNV Likely benign 542139 rs749827346 GRCh37: 14:90870848-90870848
GRCh38: 14:90404504-90404504
18 CALM1 NM_006888.6(CALM1):c.303C>T (p.Ile101=) SNV Benign 475381 rs143503733 GRCh37: 14:90870740-90870740
GRCh38: 14:90404396-90404396
19 CALM1 NM_006888.6(CALM1):c.4-10C>G SNV Benign 389903 rs191723671 GRCh37: 14:90866399-90866399
GRCh38: 14:90400055-90400055

UniProtKB/Swiss-Prot genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

72
# Symbol AA change Variation ID SNP ID
1 CALM1 p.Asn54Ile VAR_069222 rs267607276
2 CALM1 p.Asn98Ser VAR_078541 rs267607277

Expression for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Search GEO for disease gene expression data for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4.

Pathways for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Pathways related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.26 KCNQ1 CALM1
2
Show member pathways
12.1 KCNQ1 CALM1
3
Show member pathways
11.99 KCNQ1 CALM1
4
Show member pathways
11.76 KCNQ1 CALM1
5
Show member pathways
11.59 KCNQ1 CALM1
6 11.31 KCNQ1 CALM1
7
Show member pathways
10.5 KCNQ1 CALM1

GO Terms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Cellular components related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel complex GO:0008076 8.62 KCNQ1 CALM1

Molecular functions related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 8.62 KCNQ1 CALM1

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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