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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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
Cardiac resynchronization therapy in an infant with double outlet right ventricle and mechanical dyssynchrony. (22320348)
2012
2
Anesthetic management of tracheoesophageal fistula repair in a newborn with a double-outlet right ventricle. (22137517)
2011
3
A potential new constellation of defects: unguarded mitral orifice associated with double-outlet right ventricle {I, D, D} and pulmonary atresia/stenosis. (20598383)
2011
4
Surgical management of left ventricular outflow tract obstruction after biventricular repair of double outlet right ventricle. (20191035)
2010
5
Non-destructive, high-resolution 3-dimensional visualization of a cardiac defect in the chick embryo resembling complex heart defect in humans using micro-computed tomography: double outlet right ventricle with left juxtaposition of atrial appendages. (21147724)
2010
6
Incomplete isolation of the left innominate artery in a patient with right aortic arch and double outlet right ventricle. (20149015)
2010
7
The double outlet right ventricle with additional cardiac malformations: an anatomic and echocardiographic study. (19449298)
2009
8
Double outlet right ventricle and aortopulmonary window in a patient with Cornelia de Lange syndrome: a novel association. (19650413)
2009
9
Modified Echocardiographic views for concordant atrio-ventricular connection with discordant ventriculo-arterial connection or double outlet right ventricle and sub-pulmonary ventricular septal defect. (22368672)
2007
10
Intermediate-term results of the Senning or Mustard procedures combined with the Rastelli operation for patients with discordant atrioventricular connections associated with discordant ventriculoarterial connections or double outlet right ventricle. (17244378)
2007
11
Determinants of repair type, reintervention, and mortality in 393 children with double-outlet right ventricle. (17903515)
2007
12
Analysis of surgical outcome in complex double-outlet right ventricle with heterotaxy syndrome or complete atrioventricular canal defect. (16798205)
2006
13
Diagnosis and prognosis of fetuses with double outlet right ventricle. (16807954)
2006
14
Atrial tachycardia ablation in a patient with double outlet right ventricle corrected by surgery. (15116454)
2004
15
Modified Rastelli procedure for double outlet right ventricle with left-malposition of the great arteries: report of 9 cases. (12537206)
2003
16
One-stage repair of complete atrioventricular canal, double-outlet right ventricle, left superior vena cava, cor triatriatum and pulmonary stenosis. (12537251)
2003
17
Biventricular repair of double outlet right ventricle with non-committed ventricular septal defect (VSD) by VSD rerouting to the pulmonary artery and arterial switch. (12048084)
2002
18
Surgical management of double-outlet right ventricle with subaortic ventricular septal defect. (11486184)
2000
19
The role of the Fontan procedure in the surgical treatment of congenital heart malformations with double-outlet right ventricle. (11486186)
2000
20
Spin echo MRI in the evaluation of hearts with a double outlet right ventricle: usefulness and limitations. (10745132)
2000
21
Double-outlet right ventricle with intact ventricular septum in a foetus with trisomy-18. (10476833)
1999
22
Transannular patch repair of double-outlet right ventricle, [S,D,L], and single right coronary artery. (10047673)
1999
23
Double-outlet right ventricle (tetralogy of Fallot type) associated with anomalous origin of the left coronary artery from the right pulmonary artery: report of successful total repair in a 2-month-Old infant. (9636264)
1998
24
Embryological observations on the formal pathogenesis of double-outlet left ventricle with a right-ventricular infundibulum. (9323818)
1997
25
Surgical approaches for double-outlet right ventricle or transposition of the great arteries associated with straddling atrioventricular valves. (8601966)
1996
26
Surgical treatment of subaortic stenosis after biventricular repair of double-outlet right ventricle. (8975849)
1996
27
MRI appearance of a double inlet and double outlet right ventricle with supero-inferior ventricular relationship. (9071003)
1996
28
Successful repair of the right atrial isomerism, double outlet right ventricle, common atrioventricular canal, pulmonary stenosis, and total anomalous pulmonary venous connection. (7949672)
1994
29
Sudden death after repair of double-outlet right ventricle. (2297820)
1990
30
Modified Fontan procedure for biventricular hearts with complex forms of double-outlet right ventricle. (3180399)
1988
31
Anatomical correction for complete transposition and double outlet right ventricle: intermediate assessment of functional results. (3756042)
1986
32
Naturally corrected double-outlet right ventricle with biventricular outflow tract obstruction. (3724221)
1986
33
Double outlet right ventricle in a calf. (3986675)
1985
34
Anatomic problems associated with arterial switch procedures for double outlet right ventricle with subpulmonary ventricular septal defect. (6198758)
1983
35
Double outlet right ventricle: experimental morphogenesis in the chick embryo heart. (7155960)
1982
36
The spectrum of double outlet right ventricle induced by electrical shocks to the conotruncus of the embryonic chick. Implications of tissue dynamics. (7176085)
1982
37
Results of intraventricular baffle procedure for ventricular septal defect and double outlet right ventricle or d-transposition of the great arteries. (7468482)
1981
38
Surgical correction of double outlet left ventricle associated with hypoplastic right ventricle: direct anastomosis of right atrial appendage and pulmonary artery. (501899)
1979
39
Positional abnormalities of atrioventricular valves in transposition of the great arteries including double outlet right ventricle, atrioventricular valve straddling and malattachment. (158977)
1979
40
Double outlet right ventricle in a human embryo. (151978)
1978
41
Double-outlet right ventricle with long survival. (900575)
1977
42
Double-outlet right ventricle with tunnel from left ventricle to aorta. (1263551)
1976
43
Double outlet right ventricle with L-position of the aorta, D-loop, subaortic VSD, and pulmonary stenosis. (996822)
1976
44
Double outlet right ventricle with 1-malposition of the aorta. (1137653)
1975
45
Communication of mitral valve with both ventricles associated with double outlet right ventricle. (4744796)
1973
46
The double-outlet right ventricle. A palliative approach. (5099872)
1971
47
Double-outlet right ventricle with transposed great arteries and subpulmonary ventricular septal defect. The Taussig-Bing malformation. (5792975)
1969
48
Absence of pulmonic valve associated with double-outlet right ventricle. (6033172)
1967
49
Double outlet right ventricle. A review of 16 cases with 10 necropsy specimens. (5942467)
1966
50
DOUBLE OUTLET RIGHT VENTRICLE WITH PULMONIC STENOSIS. (14133824)
1964

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