IRVH
MCID: RGH010
MIFTS: 23

Right Ventricular Hypoplasia, Isolated (IRVH)

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Right Ventricular Hypoplasia, Isolated

MalaCards integrated aliases for Right Ventricular Hypoplasia, Isolated:

Name: Right Ventricular Hypoplasia, Isolated 56
Isolated Hypoplasia of the Right Ventricle 52 71
Isolated Right Ventricular Hypoplasia 52 58
Hypoplasia of the Right Ventricle 52
Right Ventricular Hypoplasia 52
Right Ventricle Hypoplasia 52
Irvh 56

Characteristics:

Orphanet epidemiological data:

58
isolated right ventricular hypoplasia
Inheritance: Autosomal recessive,Not applicable; Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
right ventricular hypoplasia, isolated:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 277200
ICD10 via Orphanet 33 Q22.6
UMLS via Orphanet 72 C1848587
Orphanet 58 ORPHA439
MedGen 41 C1848587
SNOMED-CT via HPO 68 258211005
UMLS 71 C1848587

Summaries for Right Ventricular Hypoplasia, Isolated

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 439 Definition Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation (see this term) characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication (see these terms) and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy. Visit the Orphanet disease page for more resources.

MalaCards based summary : Right Ventricular Hypoplasia, Isolated, also known as isolated hypoplasia of the right ventricle, is related to tricuspid atresia and patent foramen ovale. An important gene associated with Right Ventricular Hypoplasia, Isolated is HAND2-AS1 (HAND2 Antisense RNA 1). Affiliated tissues include heart and testes, and related phenotype is hypoplasia of right ventricle.

More information from OMIM: 277200

Related Diseases for Right Ventricular Hypoplasia, Isolated

Graphical network of the top 20 diseases related to Right Ventricular Hypoplasia, Isolated:



Diseases related to Right Ventricular Hypoplasia, Isolated

Symptoms & Phenotypes for Right Ventricular Hypoplasia, Isolated

Human phenotypes related to Right Ventricular Hypoplasia, Isolated:

31
# Description HPO Frequency HPO Source Accession
1 hypoplasia of right ventricle 31 HP:0004762

Symptoms via clinical synopsis from OMIM:

56
Cardiac:
hypoplasia of right ventricle
hypoplasia of tricuspid valve

Clinical features from OMIM:

277200

Drugs & Therapeutics for Right Ventricular Hypoplasia, Isolated

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Influence of Genetic Polymorphisms on Ventricular Structure and Function in Patients With Single Ventricle Anatomy Completed NCT00165984

Search NIH Clinical Center for Right Ventricular Hypoplasia, Isolated

Genetic Tests for Right Ventricular Hypoplasia, Isolated

Anatomical Context for Right Ventricular Hypoplasia, Isolated

MalaCards organs/tissues related to Right Ventricular Hypoplasia, Isolated:

40
Heart, Testes

Publications for Right Ventricular Hypoplasia, Isolated

Articles related to Right Ventricular Hypoplasia, Isolated:

(show all 26)
# Title Authors PMID Year
1
Familial occurrence of isolated right ventricular hypoplasia. 56 61
10706354 2000
2
Isolated right ventricular hypoplasia with atrial septal defect or patent foramen ovale. 61 56
14495868 1961
3
Hypoplasia of right ventricle and tricuspid valve in three siblings. 56
5093262 1971
4
Hypoplasia of the right ventricle and tricuspid valve in siblings. 56
6070007 1967
5
Isolated hypoplasia of the right ventricle and tricuspid valve in siblings. 56
13768823 1961
6
Asymptomatic Right Ventricular Hypoplasia in Twin Siblings: A Normal Variant or Cause of Early Mortality? 61
30805240 2019
7
Transient and anatomic isolated right-ventricular hypoplasia. 61
27042895 2016
8
Isolated right ventricular hypoplasia caused by giant aneurysm of right coronary artery to left ventricle fistula in an adult: a case report. 61
27377631 2016
9
Magnetic resonance imaging findings of isolated right ventricular hypoplasia. 61
23192444 2012
10
Transcatheter closure of atrial septal defects in children with a hypoplastic right ventricle. 61
15619280 2005
11
Isolated hypoplasia of right ventricle with atrial septal defect: a rare form of cyanotic heart disease. 61
10547948 1999
12
Isolated right ventricular hypoplasia: intraoperative balloon occlusion test. 61
9485270 1998
13
Right to left shunting in atrial septal defect due to isolated right ventricular hypoplasia. 61
7821941 1994
14
Right ventricular hypoplasia: outcome after conservative perinatal management. 61
7941919 1994
15
[A case report: successful direct closure of atrial septal defect in isolated right ventricular hypoplasia]. 61
1542200 1992
16
A case of right atrial thrombosis associated with isolated right ventricular hypoplasia. 61
2131289 1990
17
[Isolation right ventricular hypoplasia: report of two cases]. 61
2636640 1989
18
[A case report of isolated right ventricular hypoplasia: hemodynamic evaluation of 11 years following ASD closure]. 61
3235873 1988
19
[A successful surgical correction of isolated right ventricular hypoplasia with a large atrial septal defect after 3 conservative shunt operations]. 61
2419461 1985
20
[Isolated hypoplasia of the right ventricle with interatrial communication. Study of a case and review of the literature]. 61
6223549 1983
21
[Isolated right ventricular hypoplasia]. 61
738906 1978
22
[Hypoplasia of the right ventricle with interatrial communication through the coronary sinus]. 61
886756 1977
23
[Case of isolated right ventricular hypoplasia]. 61
5063819 1972
24
Isolated right ventricular hypoplasia. 61
5097448 1971
25
Isolated right ventricular hypoplasia. 61
5794807 1969
26
Isolated right ventricular hypoplasia with atrial septal defect. 61
13944601 1963

Variations for Right Ventricular Hypoplasia, Isolated

Expression for Right Ventricular Hypoplasia, Isolated

Search GEO for disease gene expression data for Right Ventricular Hypoplasia, Isolated.

Pathways for Right Ventricular Hypoplasia, Isolated

GO Terms for Right Ventricular Hypoplasia, Isolated

Sources for Right Ventricular Hypoplasia, Isolated

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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