MCID: VNT032
MIFTS: 27

Ventricular Tachycardia, Familial

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ventricular Tachycardia, Familial

MalaCards integrated aliases for Ventricular Tachycardia, Familial:

Name: Ventricular Tachycardia, Familial 57
Familial Ventricular Tachycardia 73 20 36 29 70
Ventricular Tachycardia, Familial Polymorphic 57 54
Ventricular Tachycardia, Idiopathic 57 13

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
ventricular tachycardia, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 192605
KEGG 36 H02269
MedGen 41 C0340485
UMLS 70 C0340485

Summaries for Ventricular Tachycardia, Familial

KEGG : 36 Sudden cardiac death resulting from ventricular tachyarrhythmia represents a major healthcare issue. Familial ventricular tachycardia is usually attributable to recognized conditions such as arrhythmogenic right ventricular dysplasia, hypertrophic cardiomyopathy, familial cardiomyopathy or one of the long QT interval syndromes. However, some patients had no specific electrocardiographic (ECG) changes. Their QT intervals were normal and showed no cardiac abnormalities. It has been reported that absence of the inhibitory G-Protein (G alpha i-2) predisposes to ventricular tachycardia.

MalaCards based summary : Ventricular Tachycardia, Familial, also known as familial ventricular tachycardia, is related to catecholaminergic polymorphic ventricular tachycardia and arrhythmogenic right ventricular cardiomyopathy. An important gene associated with Ventricular Tachycardia, Familial is GNAI2 (G Protein Subunit Alpha I2), and among its related pathways/superpathways are DAG and IP3 signaling and Circadian entrainment. The drugs Metoprolol and Sotalol have been mentioned in the context of this disorder. Related phenotypes are sudden cardiac death and abnormality of metabolism/homeostasis

Wikipedia : 73 Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited genetic disorder that... more...

More information from OMIM: 192605

Related Diseases for Ventricular Tachycardia, Familial

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

# Related Disease Score Top Affiliating Genes
1 catecholaminergic polymorphic ventricular tachycardia 11.2
2 arrhythmogenic right ventricular cardiomyopathy 9.9
3 dilated cardiomyopathy 9.9

Symptoms & Phenotypes for Ventricular Tachycardia, Familial

Human phenotypes related to Ventricular Tachycardia, Familial:

31
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 31 HP:0001645
2 abnormality of metabolism/homeostasis 31 HP:0001939
3 right bundle branch block 31 HP:0011712
4 paroxysmal ventricular tachycardia 31 HP:0004751

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiac:
sudden cardiac death
paroxysmal ventricular tachycardia
right bundle branch block with left axis deviation on ekg
no cardiomyopathy
no repolarization abnormality

Metabolic:
no metabolic disorder

Clinical features from OMIM®:

192605 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Ventricular Tachycardia, Familial according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-123 9.02 GNAI2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.02 RYR2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-147 9.02 RYR2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 9.02 GNAI2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-164 9.02 RYR2

Drugs & Therapeutics for Ventricular Tachycardia, Familial

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 4171
2
Sotalol Approved Phase 4 959-24-0, 3930-20-9 5253
3
Propafenone Approved Phase 4 54063-53-5 4932
4 Anti-Arrhythmia Agents Phase 4
5 Sodium Channel Blockers Phase 4
6 Adrenergic Antagonists Phase 4
7 Diuretics, Potassium Sparing Phase 4
8 Adrenergic beta-Antagonists Phase 4
9 Adrenergic beta-1 Receptor Antagonists Phase 4
10 Adrenergic Agents Phase 4
11 Neurotransmitter Agents Phase 4
12 Antihypertensive Agents Phase 4
13 Sympatholytics Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Multicenter Clinical Study of Therapeutic Effect of Sotalol on Children With Arrhythmia (Paroxysmal Supraventricular Tachycardia, Paroxysmal Atrial Tachycardia, Ventricular Tachycardia, Idiopathic Ventricular Tachycardia, Premature Ventricular Contraction ) in Children Aged From 0d to 14 Yrs Not yet recruiting NCT03895411 Phase 4 sotalol;Propafenone;betaloc

Search NIH Clinical Center for Ventricular Tachycardia, Familial

Genetic Tests for Ventricular Tachycardia, Familial

Genetic tests related to Ventricular Tachycardia, Familial:

# Genetic test Affiliating Genes
1 Familial Ventricular Tachycardia 29 GNAI2

Anatomical Context for Ventricular Tachycardia, Familial

Publications for Ventricular Tachycardia, Familial

Articles related to Ventricular Tachycardia, Familial:

(show all 13)
# Title Authors PMID Year
1
Familial polymorphic ventricular arrhythmias: a quarter century of successful medical treatment based on serial exercise-pharmacologic testing. 57
10588218 1999
2
Right ventricular outflow tract tachycardia due to a somatic cell mutation in G protein subunitalphai2. 57
9637720 1998
3
Autosomal dominant inherited ventricular tachycardia. 57
1549981 1992
4
Prophylactic implantable defibrillator in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia and no prior ventricular fibrillation or sustained ventricular tachycardia. 61
20823389 2010
5
Stabilisation of calstabin2--a new approach in sudden cardiac death. 54
16185151 2005
6
Sudden cardiac death and inherited arrhythmia syndromes. 61
16138889 2005
7
Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak. 54
15197150 2004
8
Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. 54
11157710 2001
9
Images in cardiology: familial ventricular tachycardia with mild ventricular dysfunction: a 15 year follow up of two African American brothers with arrhythmogenic right ventricular dysplasia. 61
11083749 2000
10
[Familial ventricular tachycardia]. 61
9047456 1996
11
A case of familial ventricular tachycardia. 61
7602753 1995
12
Familial ventricular tachycardia: a report of four families. 61
2328167 1990
13
[Familial ventricular tachycardia. Apropos of 7 cases]. 61
4421225 1974

Variations for Ventricular Tachycardia, Familial

Expression for Ventricular Tachycardia, Familial

Search GEO for disease gene expression data for Ventricular Tachycardia, Familial.

Pathways for Ventricular Tachycardia, Familial

Pathways related to Ventricular Tachycardia, Familial according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 RYR2 GNAI2
2
Show member pathways
12.34 RYR2 GNAI2
3
Show member pathways
12.23 RYR2 GNAI2
4
Show member pathways
12.15 RYR2 GNAI2
5
Show member pathways
12.1 RYR2 GNAI2
6
Show member pathways
11.87 RYR2 GNAI2
7
Show member pathways
11.81 RYR2 GNAI2
8
Show member pathways
11.71 RYR2 GNAI2
9
Show member pathways
11.59 RYR2 GNAI2
10 11.29 RYR2 GNAI2
11 10.76 RYR2 GNAI2

GO Terms for Ventricular Tachycardia, Familial

Sources for Ventricular Tachycardia, Familial

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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