CPVT4
MCID: VNT029
MIFTS: 29

Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 (CPVT4)

Categories: 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 74 29 13 6 72
Stress-Induced Polymorphic Ventricular Tachycardia 74 72
Bidirectional Tachycardia 74 72
Cpvt4 57 74
Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 4 40
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 72
Catecholaminergic Polymorphic Ventricular Tachycardia 4 12
Double Tachycardia Induced by Catecholamines 74
Malignant Paroxysmal Ventricular Tachycardia 74
Paroxysmal Familial Ventricular Fibrillation 72
Multifocal Ventricular Premature Beats 74
Multifocal Premature Ventricular Beats 72
Paroxysmal Ventricular Fibrillation 74
Syncopal Paroxysmal Tachycardia 74
Syncopal Tachyarythmia 74
Multifocal Pvcs 72
Vtsip 74
Cvpt4 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset within the first decade of life


HPO:

32
ventricular tachycardia, catecholaminergic polymorphic, 4:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060678
MeSH 44 D017180
ICD10 33 I47.2
UMLS 72 C0264903 C0340493 C1631597 more

Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

UniProtKB/Swiss-Prot : 74 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 stress-induced polymorphic ventricular tachycardia, is related to bidirectional tachycardia and paroxysmal ventricular fibrillation, and has symptoms including seizures, syncope and dizziness. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 is CALM1 (Calmodulin 1). 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 30)
# Related Disease Score Top Affiliating Genes
1 bidirectional tachycardia 12.7
2 paroxysmal ventricular fibrillation 12.7
3 ventricular fibrillation, paroxysmal familial, 2 12.1
4 catecholaminergic polymorphic ventricular tachycardia 11.7
5 idiopathic ventricular fibrillation, non brugada type 11.5
6 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 11.5
7 ventricular tachycardia, catecholaminergic polymorphic, 2 11.5
8 arrhythmogenic right ventricular dysplasia, familial, 2 10.2
9 arrhythmogenic right ventricular cardiomyopathy 10.2
10 ventricular fibrillation, paroxysmal familial, 1 10.1
11 long qt syndrome 1 10.1
12 syncope 10.1
13 progressive familial heart block, type ia 10.0
14 jervell and lange-nielsen syndrome 1 10.0
15 visual epilepsy 10.0
16 measles 10.0
17 seizure disorder 10.0
18 hypokalemic periodic paralysis, type 1 9.9
19 progressive familial heart block, type ib 9.9
20 orthostatic intolerance 9.9
21 cardiac arrest 9.9
22 left bundle branch hemiblock 9.9
23 right bundle branch block 9.9
24 rheumatic disease 9.9
25 enthesopathy 9.9
26 aortic aneurysm 9.9
27 pulmonary embolism 9.9
28 aneurysm 9.9
29 periodic paralysis 9.9
30 digitalis poisoning 9.9

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:

32
# Description HPO Frequency HPO Source Accession
1 vertigo 32 HP:0002321
2 syncope 32 HP:0001279
3 cardiac arrest 32 HP:0001695
4 ventricular tachycardia 32 HP:0004756

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
sudden death
syncope
cardiac arrest
dizziness
polymorphic ventricular tachycardia induced by physical activity or stress
more

Clinical features from OMIM:

614916

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:

41
Heart

Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Articles related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

# Title Authors PMID Year
1
Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. 8 71
23040497 2012
2
Catecholaminergic Polymorphic Ventricular Tachycardia 71
20301466 2004
3
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. 38
29452352 2018
4
Denaturing HPLC-based approach for detecting RYR2 mutations involved in malignant arrhythmias. 38
15131021 2004
5
The binding of the RyR2 calcium channel to its gating protein FKBP12.6 is oppositely affected by ARVD2 and VTSIP mutations. 38
12459180 2002
6
Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. 38
10588221 1999

Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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

6 (show all 14)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CALM1 NM_006888.6(CALM1): c.394G> A (p.Asp132Asn) single nucleotide variant Pathogenic 14:90870831-90870831 14:90404487-90404487
2 CALM1 NM_006888.6(CALM1): c.161A> T (p.Asn54Ile) single nucleotide variant Pathogenic/Likely pathogenic rs267607276 14:90867729-90867729 14:90401385-90401385
3 CALM1 NM_006888.6(CALM1): c.293A> G (p.Asn98Ser) single nucleotide variant Pathogenic/Likely pathogenic rs267607277 14:90870730-90870730 14:90404386-90404386
4 CALM1 NM_006888.6(CALM1): c.398G> A (p.Gly133Glu) single nucleotide variant Likely pathogenic rs1555366045 14:90870835-90870835 14:90404491-90404491
5 CALM1 NM_006888.6(CALM1): c.72C> T (p.Gly24=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607278 14:90867640-90867640 14:90401296-90401296
6 CALM1 NM_006888.6(CALM1): c.301A> G (p.Ile101Val) single nucleotide variant Uncertain significance 14:90870738-90870738 14:90404394-90404394
7 CALM1 NM_006888.6(CALM1): c.78C> T (p.Gly26=) single nucleotide variant Uncertain significance rs1555365884 14:90867646-90867646 14:90401302-90401302
8 CALM1 NM_006888.6(CALM1): c.157A> G (p.Ile53Val) single nucleotide variant Uncertain significance rs1555365887 14:90867725-90867725 14:90401381-90401381
9 CALM1 NM_006888.6(CALM1): c.324C> T (p.His108=) single nucleotide variant Likely benign rs139706811 14:90870761-90870761 14:90404417-90404417
10 CALM1 NM_006888.6(CALM1): c.273A> G (p.Arg91=) single nucleotide variant Likely benign rs1211887414 14:90870300-90870300 14:90403956-90403956
11 CALM1 NM_006888.6(CALM1): c.411C> G (p.Val137=) single nucleotide variant Likely benign rs749827346 14:90870848-90870848 14:90404504-90404504
12 CALM1 NM_006888.6(CALM1): c.69T> C (p.Asp23=) single nucleotide variant Likely benign rs144339242 14:90867637-90867637 14:90401293-90401293
13 CALM1 NM_006888.6(CALM1): c.4-10C> G single nucleotide variant Benign/Likely benign rs191723671 14:90866399-90866399 14:90400055-90400055
14 CALM1 NM_006888.6(CALM1): c.303C> T (p.Ile101=) single nucleotide variant Benign/Likely benign rs143503733 14:90870740-90870740 14:90404396-90404396

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

74
# Symbol AA change Variation ID SNP ID
1 CALM1 p.Asn54Ile VAR_069222 rs267607276
2 CALM1 p.Asn98Ser VAR_078541 rs398124647

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

GO Terms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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69 SNOMED-CT via HPO
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71 Tocris
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73 UMLS via Orphanet
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