CPVT4
MCID: VNT029
MIFTS: 35

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 58 76 30 13 6 74
Stress-Induced Polymorphic Ventricular Tachycardia 76 74
Bidirectional Tachycardia 76 74
Cpvt4 58 76
Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 4 41
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 74
Catecholaminergic Polymorphic Ventricular Tachycardia 4 12
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
Vtsip 76
Cvpt4 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset within the first decade of life


HPO:

33
ventricular tachycardia, catecholaminergic polymorphic, 4:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

UniProtKB/Swiss-Prot : 76 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). The drugs Metoprolol and Nadolol have been mentioned in the context of this disorder. 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.

Description from OMIM: 614916

Related Diseases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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:

33
# Description HPO Frequency HPO Source Accession
1 vertigo 33 HP:0002321
2 syncope 33 HP:0001279
3 cardiac arrest 33 HP:0001695
4 ventricular tachycardia 33 HP:0004756

Symptoms via clinical synopsis from OMIM:

58
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

Drugs for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metoprolol Approved, Investigational Not Applicable 37350-58-6, 51384-51-1 4171
2
Nadolol Approved Not Applicable 42200-33-9 39147
3
Propranolol Approved, Investigational Not Applicable 525-66-6 4946
4
Atenolol Approved Not Applicable 29122-68-7 2249
5
Atropine Approved, Vet_approved Not Applicable 5908-99-6, 51-55-8 174174
6 Adrenergic Antagonists Not Applicable
7 Diuretics, Potassium Sparing Not Applicable
8 Anti-Arrhythmia Agents Not Applicable
9 Sodium Channel Blockers Not Applicable
10 Adrenergic Agents Not Applicable
11 Adrenergic beta-Antagonists Not Applicable
12 Neurotransmitter Agents Not Applicable
13 Autonomic Agents Not Applicable
14 Peripheral Nervous System Agents Not Applicable
15 Cholinergic Antagonists Not Applicable
16 Anesthetics Not Applicable
17 Respiratory System Agents Not Applicable
18 Muscarinic Antagonists Not Applicable
19 Adjuvants, Anesthesia Not Applicable
20 Anti-Asthmatic Agents Not Applicable
21 Parasympatholytics Not Applicable
22 Mydriatics Not Applicable
23 Bronchodilator Agents Not Applicable
24 Cholinergic Agents 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, 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 30 CALM1

Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Articles related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

(show all 39)
# Title Authors Year
1
Bidirectional tachycardia after an acute intravenous administration of digitalis for a suicidal gesture. ( 25221680 )
2014
2
Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. ( 23040497 )
2012
3
Ventricular fibrillation following bidirectional tachycardia due to digitalis toxicity. ( 21963751 )
2011
4
Bidirectional tachycardia in a patient with pulmonary embolism. ( 20544622 )
2010
5
Bidirectional tachycardia: two cases and a review. ( 12145041 )
2002
6
Bidirectional tachycardia eliminated with radiofrequency ablation. ( 12520685 )
2002
7
Bidirectional tachycardia. ( 9548072 )
1998
8
Bidirectional tachycardia associated with digoxin toxicity. ( 7782630 )
1995
9
Bidirectional tachycardia induced by herbal aconite poisoning. ( 1382285 )
1992
10
Bidirectional tachycardia: a new look on the mechanism. ( 2471169 )
1989
11
Bidirectional tachycardia. A sustained form, not related to digitalis intoxication, in an adult without apparent cardiac disease. ( 3172482 )
1988
12
Long-standing bidirectional tachycardia in a patient with hypokalemic periodic paralysis. ( 3351412 )
1988
13
Bidirectional tachycardia. Mechanism derived from intracardiac recordings and programmed electrical stimulation. ( 6182532 )
1982
14
Effects of lignocaine on bidirectional tachycardia and on digitalis-induced atrial tachycardia with block. ( 7082511 )
1982
15
Bidirectional tachycardia: a case. ( 7253647 )
1981
16
Transfer of coupling of premature ventricular contractions to an ectopic ventricular tachycardia: a mechanism for atypical bidirectional tachycardia. ( 422920 )
1979
17
Bidirectional tachycardia with normal QRS duration. ( 941835 )
1976
18
Bidirectional tachycardia a study of five cases. ( 1087815 )
1976
19
Bidirectional tachycardia in a child. A study using His bundle electrography. ( 1138739 )
1975
20
His bundle electrogram during bidirectional tachycardia. ( 1191437 )
1975
21
Supraventricular origin of bidirectional tachycardia. Report of a case. ( 4415990 )
1974
22
Infra-His bundle origin of bidirectional tachycardia. ( 4709543 )
1973
23
Ventricular origin of bidirectional tachycardia. Case report of a patient not toxic from digitalis. ( 4744795 )
1973
24
His bundle electrocardiography during bidirectional tachycardia. ( 4781244 )
1973
25
Bidirectional tachycardia. ( 4399168 )
1971
26
Bidirectional tachycardia. ( 5130932 )
1971
27
Bidirectional tachycardia. ( 5576805 )
1971
28
Bidirectional tachycardia. ( 5365903 )
1969
29
The mechanism of bidirectional tachycardia. ( 5794796 )
1969
30
Bidirectional tachycardia in a case of recurrent paroxysmal tachycardia with ventricular fibrillation. ( 5721307 )
1968
31
Bidirectional tachycardia. ( 6020086 )
1967
32
Bidirectional tachycardia. ( 5875151 )
1966
33
Bidirectional tachycardia. ( 13878816 )
1962
34
Bidirectional tachycardia. ( 13910711 )
1962
35
Bidirectional tachycardia. Three cases and a review of its mechanism. ( 14495276 )
1962
36
Bidirectional tachycardia. ( 13626870 )
1959
37
Alternating bidirectional tachycardia. ( 13458075 )
1957
38
Bidirectional tachycardia. ( 13268317 )
1956
39
Alternating bidirectional tachycardia. ( 14802933 )
1951

Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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

76
# Symbol AA change Variation ID SNP ID
1 CALM1 p.Asn54Ile VAR_069222 rs267607276
2 CALM1 p.Asn98Ser VAR_078541 rs398124647

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

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 CALM1 NM_006888.4(CALM1): c.161A> T (p.Asn54Ile) single nucleotide variant Pathogenic/Likely pathogenic rs267607276 GRCh37 Chromosome 14, 90867729: 90867729
2 CALM1 NM_006888.4(CALM1): c.161A> T (p.Asn54Ile) single nucleotide variant Pathogenic/Likely pathogenic rs267607276 GRCh38 Chromosome 14, 90401385: 90401385
3 CALM1 NM_006888.5(CALM1): c.293A> G (p.Asn98Ser) single nucleotide variant Pathogenic/Likely pathogenic rs267607277 GRCh37 Chromosome 14, 90870730: 90870730
4 CALM1 NM_006888.5(CALM1): c.293A> G (p.Asn98Ser) single nucleotide variant Pathogenic/Likely pathogenic rs267607277 GRCh38 Chromosome 14, 90404386: 90404386
5 CALM1 NM_006888.4(CALM1): c.72C> T (p.Gly24=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607278 GRCh37 Chromosome 14, 90867640: 90867640
6 CALM1 NM_006888.4(CALM1): c.72C> T (p.Gly24=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607278 GRCh38 Chromosome 14, 90401296: 90401296
7 CALM1 NM_006888.4(CALM1): c.324C> T (p.His108=) single nucleotide variant Likely benign rs139706811 GRCh37 Chromosome 14, 90870761: 90870761
8 CALM1 NM_006888.4(CALM1): c.324C> T (p.His108=) single nucleotide variant Likely benign rs139706811 GRCh38 Chromosome 14, 90404417: 90404417
9 CALM1 NM_006888.4(CALM1): c.4-10C> G single nucleotide variant Benign/Likely benign rs191723671 GRCh37 Chromosome 14, 90866399: 90866399
10 CALM1 NM_006888.4(CALM1): c.4-10C> G single nucleotide variant Benign/Likely benign rs191723671 GRCh38 Chromosome 14, 90400055: 90400055
11 CALM1 NM_006888.4(CALM1): c.69T> C (p.Asp23=) single nucleotide variant Likely benign rs144339242 GRCh37 Chromosome 14, 90867637: 90867637
12 CALM1 NM_006888.4(CALM1): c.69T> C (p.Asp23=) single nucleotide variant Likely benign rs144339242 GRCh38 Chromosome 14, 90401293: 90401293
13 CALM1 NM_006888.4(CALM1): c.78C> T (p.Gly26=) single nucleotide variant Uncertain significance rs1555365884 GRCh38 Chromosome 14, 90401302: 90401302
14 CALM1 NM_006888.4(CALM1): c.78C> T (p.Gly26=) single nucleotide variant Uncertain significance rs1555365884 GRCh37 Chromosome 14, 90867646: 90867646
15 CALM1 NM_006888.4(CALM1): c.157A> G (p.Ile53Val) single nucleotide variant Uncertain significance rs1555365887 GRCh38 Chromosome 14, 90401381: 90401381
16 CALM1 NM_006888.4(CALM1): c.157A> G (p.Ile53Val) single nucleotide variant Uncertain significance rs1555365887 GRCh37 Chromosome 14, 90867725: 90867725
17 CALM1 NM_006888.4(CALM1): c.303C> T (p.Ile101=) single nucleotide variant Benign/Likely benign rs143503733 GRCh37 Chromosome 14, 90870740: 90870740
18 CALM1 NM_006888.4(CALM1): c.303C> T (p.Ile101=) single nucleotide variant Benign/Likely benign rs143503733 GRCh38 Chromosome 14, 90404396: 90404396
19 CALM1 NM_006888.4(CALM1): c.398G> A (p.Gly133Glu) single nucleotide variant Likely pathogenic rs1555366045 GRCh37 Chromosome 14, 90870835: 90870835
20 CALM1 NM_006888.4(CALM1): c.398G> A (p.Gly133Glu) single nucleotide variant Likely pathogenic rs1555366045 GRCh38 Chromosome 14, 90404491: 90404491
21 CALM1 NM_006888.4(CALM1): c.273A> G (p.Arg91=) single nucleotide variant Likely benign rs1211887414 GRCh38 Chromosome 14, 90403956: 90403956
22 CALM1 NM_006888.4(CALM1): c.273A> G (p.Arg91=) single nucleotide variant Likely benign rs1211887414 GRCh37 Chromosome 14, 90870300: 90870300
23 CALM1 NM_006888.4(CALM1): c.411C> G (p.Val137=) single nucleotide variant Likely benign rs749827346 GRCh37 Chromosome 14, 90870848: 90870848
24 CALM1 NM_006888.4(CALM1): c.411C> G (p.Val137=) single nucleotide variant Likely benign rs749827346 GRCh38 Chromosome 14, 90404504: 90404504

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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