MCID: VNT029
MIFTS: 29

Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Categories: Genetic diseases, Cardiovascular 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 75 29 13 6 73
Stress-Induced Polymorphic Ventricular Tachycardia 75 73
Bidirectional Tachycardia 75 73
Cpvt4 57 75
Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 4 40
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 73
Catecholaminergic Polymorphic Ventricular Tachycardia 4 12
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
Vtsip 75
Cvpt4 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset within the first decade of life


HPO:

32
ventricular tachycardia, catecholaminergic polymorphic, 4:
Inheritance autosomal dominant inheritance
Mortality/Aging sudden death


Classifications:



Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

UniProtKB/Swiss-Prot : 75 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). 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

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

614916

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

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

Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Articles related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

(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, 4

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

75
# 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_006888.4(CALM1): c.293A> G (p.Asn98Ser) single nucleotide variant Pathogenic/Likely pathogenic rs267607277 GRCh37 Chromosome 14, 90870730: 90870730
4 CALM1 NM_006888.4(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 GRCh38 Chromosome 14, 90400055: 90400055
10 CALM1 NM_006888.4(CALM1): c.4-10C> G single nucleotide variant Benign/Likely benign rs191723671 GRCh37 Chromosome 14, 90866399: 90866399
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 GRCh38 Chromosome 14, 90401302: 90401302
14 CALM1 NM_006888.4(CALM1): c.78C> T (p.Gly26=) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 90867646: 90867646
15 CALM1 NM_006888.4(CALM1): c.157A> G (p.Ile53Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 90867725: 90867725
16 CALM1 NM_006888.4(CALM1): c.157A> G (p.Ile53Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 90401381: 90401381
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 GRCh37 Chromosome 14, 90870835: 90870835
20 CALM1 NM_006888.4(CALM1): c.398G> A (p.Gly133Glu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 14, 90404491: 90404491
21 CALM1 NM_006888.4(CALM1): c.273A> G (p.Arg91=) single nucleotide variant Likely benign GRCh38 Chromosome 14, 90403956: 90403956
22 CALM1 NM_006888.4(CALM1): c.273A> G (p.Arg91=) single nucleotide variant Likely benign 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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