ARVD14
MCID: ARR051
MIFTS: 19

Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 (ARVD14)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 14

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 14:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 57 72 6
Arvd14 57 72
Arrhythmogenic Right Ventricular Cardiomyopathy 14; Arvc14 57
Arrhythmogenic Right Ventricular Cardiomyopathy 14 57
Arvc14 57

Characteristics:

OMIM®:

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

Miscellaneous:
some affected individuals are asymptomatic
sudden unexplained death in some affected family members


HPO:

31
arrhythmogenic right ventricular dysplasia, familial, 14:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 618920
OMIM Phenotypic Series 57 PS107970
MeSH 44 D019571

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 14

OMIM® : 57 Arrhythmogenic right ventricular cardiomyopathy/dysplasia-14 (ARVD14) is characterized by palpitations, chest pain, and presyncope. Electrocardiography shows epsilon waves, T-wave inversion across anterior leads, premature ventricular contractions, ventricular tachycardia, and left bundle branch block. Dilation of the right ventricle with hypokinesia and aneurysmal changes are seen on echocardiography. Cardiac MRI may show fibrofatty infiltration, which has been confirmed by endocardial biopsy in some patients. Sudden death may occur (Mayosi et al., 2017). For a discussion of genetic heterogeneity of ARVD, see ARVD1 (107970). (618920) (Updated 05-Apr-2021)

MalaCards based summary : Arrhythmogenic Right Ventricular Dysplasia, Familial, 14, is also known as arvd14. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 is CDH2 (Cadherin 2). Related phenotypes are chest pain and ventricular extrasystoles

UniProtKB/Swiss-Prot : 72 Arrhythmogenic right ventricular dysplasia, familial, 14: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 14

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 14:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 chest pain 31 very rare (1%) HP:0100749
2 ventricular extrasystoles 31 very rare (1%) HP:0006682
3 ventricular tachycardia 31 very rare (1%) HP:0004756
4 palpitations 31 very rare (1%) HP:0001962
5 left bundle branch block 31 very rare (1%) HP:0011713
6 presyncope 31 very rare (1%) HP:0031972
7 right ventricular dilatation 31 HP:0005133

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
chest pain
palpitations
presyncope
premature ventricular contractions
ventricular tachycardia, sustained or nonsustained
more

Clinical features from OMIM®:

618920 (Updated 05-Apr-2021)

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 14

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 14

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 14

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 14

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 14

Articles related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 14:

# Title Authors PMID Year
1
Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy. 6 57
28280076 2017
2
Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes. 57
16569242 2006
3
Follow-up of patients with arrhythmogenic right ventricular cardiomyopathy dysplasia. 57
10721396 2000
4
[Sudden death during anesthesia: human error, drug related or cardiac death?]. 61
11878099 2001

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 14

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 14:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDH2 NM_001792.5(CDH2):c.686A>C (p.Gln229Pro) SNV Pathogenic 929497 GRCh37: 18:25589697-25589697
GRCh38: 18:28009733-28009733
2 CDH2 NM_001792.5(CDH2):c.1219G>A (p.Asp407Asn) SNV Pathogenic 929498 GRCh37: 18:25572744-25572744
GRCh38: 18:27992780-27992780

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 14

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 14.

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 14

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 14

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 14

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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