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 transposition of great vessels, tetralogy of fallot/trilogy of fallot 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, 10DISEASES, 48Orphanet, 60UMLS, 46OMIM, 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
binge eating disorder 60
common arterial trunk 48
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
  • transposition of great vessels
  • tetralogy of fallot/trilogy of fallot
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • patent ductus arteriosus
  • insterstitial/subtelomeric microdeletion/deletion

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
Double outlet right ventricle with unilateral absence of left pulmonary artery. (22995573)
2013
2
Absent Aortic Valve Associated with Double Outlet Right Ventricle and Aortopulmonary Window: Physiologic Implications of a Rare Malformation in both the Fetus and Neonate. (23701730)
2013
3
How best can we define double outlet right ventricle when describing congenitally malformed hearts? (23674328)
2013
4
Echocardiographic recognition of a criss-cross heart with double outlet right ventricle. (23847656)
2013
5
Pentalogy of Cantrell associated with a double-outlet right ventricle. (22964340)
2012
6
Right ventricular hypertrabeculation associated with double-outlet left ventricle: exaggeration of a normal pattern or right ventricular cardiomyopathy? (19996765)
2010
7
Echocardiographic tools for pacemaker optimization of ventricular function in an infant following surgical repair for double outlet right ventricle. (21165368)
2010
8
Novel method for delivering the Amplatzer muscular VSD occluder in a patient with double outlet right ventricle after bidirectional Glenn procedure and pulmonary artery band. (19681125)
2009
9
Intracardiac repair of double outlet right ventricle. (18396223)
2008
10
Multidetector computed tomography findings of double-outlet right ventricle associated with multiple cardiac and visceral anomalies. (19073532)
2008
11
Three- and four-dimensional volume-rendered imaging of fetal double-outlet right ventricle using inversion mode. (16941477)
2006
12
Complex double-outlet right ventricle repair in a neonate with complete tracheal agenesis. (14752450)
2004
13
The morphologic nature of noncommitted ventricular septal defects in specimens with double-outlet right ventricle. (12407383)
2002
14
Single-stage anatomical repair of complete atrioventricular canal, double-outlet right ventricle, and cor triatriatum using ventricular septal defect translocation. (11996287)
2002
15
Surgical outcome of double-outlet right ventricle with subpulmonary VSD. (11216809)
2001
16
Double-outlet right ventricle with intact ventricular septum. (11392647)
2001
17
Anatomic features and surgical strategies in double-outlet right ventricle. (9286954)
1997
18
The angiocardiographic analysis of 73 patients with double-outlet right ventricle. (10868190)
1997
19
Echocardiographic diagnosis of single coronary artery in double-outlet right ventricle. (8629601)
1996
20
Institutional experience with a protocol of early primary repair of double-outlet right ventricle. (8604947)
1995
21
Congenital absence of the left pulmonary artery associated with double-outlet right ventricle. (1590131)
1992
22
Atrio-pulmonary connection (modified Fontan) for double outlet right ventricle with superior inferior ventricles and criss cross circulation. (1289224)
1992
23
Oral prostaglandin E1 derivative (OP-1206) in an infant with double outlet right ventricle and pulmonary stenosis. Effect on ductus-dependent pulmonary circulation. (1774835)
1991
24
Pathogenesis of various forms of double outlet right ventricle in mouse fetal trisomy 13. (1743790)
1991
25
Partial biventricular repair for double-outlet right ventricle with left ventricular hypoplasia. (2142407)
1990
26
Double outlet right ventricle associated with common atrioventricular canal: report of nine anatomic specimens. (3734260)
1986
27
Anatomic correction of double-outlet right ventricle with subpulmonary ventricular septal defect (the "Taussig-Bing" anomaly). (3954501)
1986
28
Double outlet right ventricle and left-sided aorta. A previously undescribed association with cor triatriatum and double right ventricular chamber. (3723786)
1986
29
Double outlet right ventricle. Cross sectional echocardiographic findings, their anatomical explanation, and surgical relevance. (6743434)
1984
30
Double-outlet right ventricle associated with discrete subaortic stenosis. (6540866)
1984
31
Double-outlet right ventricle. A clinical-roentgenologic-pathologic study of 28 consecutive patients. (6705584)
1984
32
Double-outlet right ventricle. Surgical results, 1970-1980. (6848885)
1983
33
Successful repair of coexisting double-outlet right ventricle and two-chambered right ventricle. (7087528)
1982
34
Right ventriculogram in double outlet right ventricle. (7439922)
1980
35
Postoperative false aneurysm of left ventricle and obstruction of left circumflex coronary artery complicating enlargement of restrictive ventricular septal defect in double-outlet right ventricle. (7382528)
1980
36
Double-outlet right ventricle. Anatomic and angiocardiographic correlations. (682686)
1978
37
Double outlet right ventricle the Taussig-Bing syndrome. (726675)
1978
38
Successful repair of double-outlet right ventricle, complete atrioventricular canal, and atrioventricular discordance associated with dextrocardia and pulmonary stenosis. (703376)
1978
39
Successful surgical repair of solitus, dextrocardia, atrioventricular discordance, and double outlet right ventricle with l-malposition of the aorta. (668749)
1978
40
Obstructing ventricular septal defect in double outlet right ventricle. (848451)
1977
41
Late development of left ventricular outflow tract obstruction after repair of double-outlet right ventricle. (785106)
1976
42
Complete correction of double-outlet right ventricle with situs inversus, 1-loop, and 1-malposition (I,L,L) with subaortic VSD and pulmonary stenosis. (1249949)
1976
43
Variability of echocardiographic discontinuity in double outlet right ventricle and truncus arteriosus. (1122589)
1975
44
Double outlet right ventricle with fibro-muscular obstruction to left ventricular outlet. (4709245)
1973
45
Double outlet right ventricle with pulmonic stenosis and anteriorly positioned aorta(Taussig-Bing variant). Report of a case and surgical correction. (4744273)
1973
46
Double outlet right ventricle. Association with other cardiovascular anomalies. (4683159)
1973
47
Double-outlet right ventricle with pulmonic stenosis. Surgical considerations and results of operation. (5578862)
1971
48
Double outlet right ventricle with left ventricular outflow tract obstruction due to small ventricular septal defect. (5565420)
1971
49
Surgical treatment of acyanotic double-outlet right ventricle. (6035797)
1967
50
Double outlet right ventricle with pulmonary stenosis. (6018321)
1967

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