TAC
MCID: DBL002
MIFTS: 57

Double Outlet Right Ventricle (TAC) malady

Cardiovascular diseases, Fetal diseases categories

Summaries for Double Outlet Right Ventricle

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Sources:
3CDC, 63Wikipedia, 46OMIM, 32MalaCards
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CDC:3 The CDC/ATSDR TAC currently has 3 vacancies for membership. Information about the vacant seats, eligibility, selection criteria, and nomination procedures is posted below. Nominations are due May 30, 2014. 

MalaCards: Double Outlet Right Ventricle, also known as double outlet right ventricle with subpulmonary ventricular septal defect, is related to ventricular septal defect and tetralogy of fallot, and has symptoms including patent ductus arteriosus, insterstitial/subtelomeric microdeletion/deletion and hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption. An important gene associated with Double Outlet Right Ventricle is HTX2 (heterotaxy 2 (autosomal dominant)), and among its related pathways is Signaling by NODAL. Affiliated tissues include heart and bone, and related mouse phenotypes are digestive/alimentary and respiratory system.

Wikipedia:63 Double outlet right ventricle (DORV) is a form of congenital heart disease where both of the great... more...

Description from OMIM:46 217095

Aliases & Classifications for Double Outlet Right Ventricle

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 56SNOMED-CT, 27ICD9CM, 34MeSH, 61UMLS via Orphanet, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 35MESH via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Cardiovascular diseases


Characteristics (Orphanet epidemiological data):

48
common aortico-pulmonary trunk:
Age of onset: Neonatal/infancy
double outlet right ventricle:
Age of onset: Childhood


Aliases & Descriptions:

double outlet right ventricle 8 42 10 48
double outlet right ventricle with subpulmonary ventricular septal defect 8 48
conotruncal heart malformations 48 60
taussig-bing syndrome 8 48
cluster headaches and other trigeminal autonomic cephalgias 60
double outlet right ventricle, unspecified 8
double outlet right ventricle nos 8
common aortico-pulmonary trunk 48
double-outlet right ventricle 46
dextrotransposition of aorta 8
common arterial trunk 48
binge eating disorder 60
truncus arteriosus 48
dorv 48
tac 48


External Ids:

Disease Ontology8 DOID:6406
ICD9CM27 745.11
MeSH34 D004310
OMIM46 217095
UMLS via Orphanet61 C1857586, C0013069
SNOMED-CT via Orphanet57 61959006, 204299009, 7484005 448794008, more
ICD10 via Orphanet26 Q20.0, Q20.1
MESH via Orphanet35 D004310
ICD1025 Q20.0

Related Diseases for Double Outlet Right Ventricle

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Double Outlet Right Ventricle via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 117)
idRelated DiseaseScoreTop Affiliating Genes
1ventricular septal defect31.7TBX1, GDF1, CFC1
2tetralogy of fallot31.3TBX1, GDF1
3situs inversus30.8GDF1
4digeorge syndrome30.7TBX1
5conotruncal heart malformations30.7GDF1, TBX1, NKX2-6
6velocardiofacial syndrome30.2TBX1, NKX2-6
7eating disorder11.4
8obesity11.1
9bulimia nervosa11.0
10atrioventricular septal defect10.8
11dextrocardia10.7
12personality disorder10.7
13anorexia nervosa10.6
14double outlet right ventricle with doubly committed ventricular septal defect10.6
15persistent truncus arteriosus10.6
16double outlet right ventricle, fallot type10.5
17double outlet right ventricle with subaortic ventricular septal defect10.5
18double outlet right ventricle with non-committed subpulmonary ventricular septal defect10.5
19morbid obesity10.5
20obsessive-compulsive disorder10.4
21obsessive-compulsive personality disorder10.4
22anxiety disorder10.4
23bipolar disorder10.4
24aortic aneurysm10.4
25heart septal defect10.4
26vascular disease10.4
27attention deficit hyperactivity disorder10.4
28alexithymia10.4
29mood disorder10.4
30physical disorder10.4
31cfc1-related conotruncal heart malformations10.3
32conotruncal heart malformations, variable10.3
33adult syndrome10.3
34leukemia10.3
35tracheal stenosis10.3
36coronary aneurysm10.3
37discrete subaortic stenosis10.3
38phenylketonuria10.3
39cornelia de lange syndrome10.3
40hypertrophic cardiomyopathy10.3
41down syndrome10.3
42congestive heart failure10.3
43coronary stenosis10.3
44endocarditis10.3
45hydrocephalus10.3
46hypertension10.3
47infective endocarditis10.3
48myotonic dystrophy10.3
49pulmonary embolism10.3
50subvalvular aortic stenosis10.3

Graphical network of the top 20 diseases related to Double Outlet Right Ventricle:



Diseases related to double outlet right ventricle

Clinical Features for Double Outlet Right Ventricle

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

217095

Clinical synopsis from OMIM:

217095

Symptoms:

48
  • patent ductus arteriosus
  • insterstitial/subtelomeric microdeletion/deletion
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • tetralogy of fallot/trilogy of fallot
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • transposition of great vessels

Drugs & Therapeutics for Double Outlet Right Ventricle

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Double Outlet Right Ventricle

Search CenterWatch for Double Outlet Right Ventricle

Genetic Tests for Double Outlet Right Ventricle

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Anatomical Context for Double Outlet Right Ventricle

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32MalaCards
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MalaCards organs/tissues related to Double Outlet Right Ventricle:

32
Heart, Bone

Animal Models for Double Outlet Right Ventricle or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Double Outlet Right Ventricle:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.0CFC1, GDF1, TBX1
2MP:00053888.5CFC1, GDF1, TBX1, NKX2-6
3MP:00053828.4PLXND1, GDF1, TBX1
4MP:00053908.2CFC1, PLXND1, GDF1, TBX1
5MP:00053807.7CFC1, PLXND1, GDF1, TBX1, NKX2-6
6MP:00053857.7NKX2-6, TBX1, GDF1, PLXND1, CFC1
7MP:00053787.6NKX2-6, TBX1, GDF1, PLXND1, CFC1
8MP:00107687.4NKX2-6, TBX1, GDF1, PLXND1, CFC1

Publications for Double Outlet Right Ventricle

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Sources:
50PubMed
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Articles related to Double Outlet Right Ventricle:

(show top 50)    (show all 372)
idTitleAuthorsYear
1
Transcatheter right ventricular outflow tract stent implantation in a child with pentalogy of Cantrell, double outlet right ventricle, and severe pulmonary stenosis. (23404713)
2013
2
Transcatheter Aortic Valve Implantation in Surgically Repaired Double Outlet Right Ventricle. (23865720)
2013
3
Prenatal diagnosis of a fetal double-outlet right ventricle with tricuspid valve atresia, a straddling mitral valve, and a hypoplastic left ventricle. (22441924)
2012
4
Prenatal detection and postnatal management of double outlet right ventricle (DORV) in 21 singleton pregnancies. (21410422)
2012
5
Double-outlet right ventricle and double septal defects in a Rhesus macaque (Macaca mulatta). (22362952)
2012
6
Impact of prenatal diagnosis and anatomical subtype on outcome in double outlet right ventricle. (20934564)
2010
7
The impact of the length between the top of the interventricular septum and the aortic valve on the indications for a biventricular repair in patients with a transposition of the great arteries or a double outlet right ventricle. (20207706)
2010
8
Repair of atrioventricular canal with double-outlet right ventricle, transposition, or truncus arteriosus. (23804732)
2010
9
Double-outlet right ventricle with extremely rare conotruncal morphology. (20719792)
2010
10
Implications of incising the ventricular septum in double outlet right ventricle and in the Ross-Konno operation. (19269838)
2009
11
Double-outlet right ventricle in a 10-month-old Friesian filly. (19382930)
2009
12
Ventricular non-compaction in the setting of double-outlet right ventricle (tetralogy of Fallot type) with doubly committed subarterial ventricular septal defect. (17435076)
2007
13
Outcomes of definitive surgical repair for congenitally corrected transposition of the great arteries or double outlet right ventricle with discordant atrioventricular connections: risk analyses in 189 patients. (17467450)
2007
14
An unusual form of double outlet right ventricle. (17162304)
2006
15
Borderline left ventricles in prenatally diagnosed atrioventricular septal defect or double outlet right ventricle: echocardiographic predictors of biventricular repair. (16824850)
2006
16
Double outlet right ventricle: opinions regarding management. (16138957)
2005
17
Double switch with reversed Patrick-McGoon for corrected transposition of the great arteries with double outlet right ventricle. (15242084)
2004
18
Surgical management of double outlet right ventricle with intact ventricular septum. (12607685)
2003
19
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. (11799476)
2002
20
Repair of double outlet right ventricle with doubly-committed ventricular septal defect. (11558951)
2001
21
Around PediHeart: Double-Outlet Right Ventricle Versus Tetralogy of Fallot. (10982711)
2000
22
Extended septoplasty for subaortic stenosis developed 19 years after double-outlet right ventricle repair. (10935326)
2000
23
Double-outlet right ventricle: an antenatal diagnostic dilemma. (10623990)
1999
24
Clinical results of arterial switch operation for double-outlet right ventricle with subpulmonary VSD. (10333024)
1999
25
Double-outlet right ventricle with complete atrioventricular canal. (9768963)
1998
26
Double outlet right ventricle with restrictive ventricular septal defect. (8631572)
1996
27
Early and late results after correction for double-outlet right ventricle: uni- and multivariate analysis of risk factors. (8086177)
1994
28
Complete thoracic ectopia cordis with double-outlet right ventricle: neonatal repair. (1728225)
1992
29
Double-outlet right ventricle: morphologic demonstration using nuclear magnetic resonance imaging. (2050920)
1991
30
Morphogenetic considerations on congenital malformations of the outflow tract. Part 2: Complete transposition of the great arteries and double outlet right ventricle. (1937983)
1991
31
Mitral atresia with double outlet right ventricle in an asymptomatic adult. (2335403)
1990
32
MR imaging of double-outlet right ventricle. (2783266)
1989
33
Spectrum of double outlet right ventricle induced by electrical shock at the conotruncus of the embryonic chick heart: emphasis on cellular changes and evaluation of hemodynamics using Doppler. (3130879)
1987
34
Double-outlet right ventricle and severe systemic outflow tract hypoplasia. (2441666)
1987
35
Attenuated pulmonary vascular obstructive disease in double-outlet right ventricle and mitral stenosis. (3718044)
1986
36
Double outlet right ventricle associated with persistent common atrioventricular canal and pulmonary stenosis. (3719602)
1986
37
Disadvantageous closure of the interventricular communication in double outlet right ventricle. (6732997)
1984
38
Results of the Damus-Stansel-Kaye procedure for transposition of the great arteries and for double-outlet right ventricle with subpulmonary ventricular septal defect. (6497473)
1984
39
Peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome. (6507485)
1984
40
Changing results and concepts in the surgical treatment of double-outlet right ventricle: analysis of 137 operations in 126 patients. (6193702)
1983
41
Spontaneous closure of ventricular septal defect in a case of double outlet right ventricle. (6849720)
1983
42
Surgical correction of double outlet right ventricle with pulmonic stenosis employing modified Rastelli technique. (7084988)
1982
43
Transatrial repair of double-outlet right ventricle in infants. (7112474)
1982
44
Successful surgical repair of double outlet right ventricle with situs inversus, l-loop, l-malposition and subaortic VSD in a 16-month-old patient. (648578)
1978
45
Surgical "correction" of solitus-concordant, double-outlet left ventricle with L-malposition and tricuspid stenosis with hypoplastic right ventricle. (131882)
1976
46
Double outlet right ventricle with l-malposition and uncommitted ventricular septal defect. (1183465)
1975
47
Double outlet right ventricle with absent aortic valve. (1157548)
1975
48
Long-term fate of homograft ascending aorta with valve, utilized for reconstruction of the pulmonary artery in double outlet right ventricle with ventricular inversion. (4803939)
1973
49
Double outlet right ventricle with long survival. (5659404)
1968
50
Double-outlet right ventricle. (5708602)
1968

Genetic Variations for Double Outlet Right Ventricle

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Double Outlet Right Ventricle:

62
id Symbol AA change Variation ID SNP ID
1GATA6p.Asn466HisVAR_067388
2GDF1p.Cys267TyrVAR_065335
3NKX2-6p.Phe151LeuVAR_063278
4TBX1p.Phe148TyrVAR_035025rs28939675

Expression for genes affiliated with Double Outlet Right Ventricle

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Double Outlet Right Ventricle

Search GEO for disease gene expression data for Double Outlet Right Ventricle.

Pathways for genes affiliated with Double Outlet Right Ventricle

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53Reactome
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Pathways related to Double Outlet Right Ventricle according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.5CFC1, GDF1

Compounds for genes affiliated with Double Outlet Right Ventricle

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GO Terms for genes affiliated with Double Outlet Right Ventricle

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16Gene Ontology
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Biological processes related to Double Outlet Right Ventricle according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1pharyngeal system developmentGO:0600379.2TBX1, NKX2-6
2determination of left/right symmetryGO:0073689.1CFC1, TBX1
3angiogenesisGO:0015259.1PLXND1, TBX1

Products for genes affiliated with Double Outlet Right Ventricle

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  • Antibodies
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Sources for Double Outlet Right Ventricle

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet