MCID: TTR001
MIFTS: 68

Tetralogy of Fallot malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Fetal diseases categories

Aliases & Classifications for Tetralogy of Fallot

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 36MeSH, 67UniProtKB/Swiss-Prot, 22GeneTests, 24GTR, 59SNOMED-CT, 29ICD9CM, 42NCIt, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen
See all sources

Aliases & Descriptions for Tetralogy of Fallot:

Name: Tetralogy of Fallot 49 10 11 45 12 51 36 67
Fallot Tetralogy 45 22 24
Tof 45 67
 
Atresia, Dextraposition of Aorta, and Hypertrophy of Right Ventricle 10
Ventricular Septal Defect with Pulmonary Stenosis 10
Tetrology of Fallot 49


Classifications:



Characteristics (Orphanet epidemiological data):

51
tetralogy of fallot:
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-5/10000 (Europe),1-5/10000 (Austria),1-5/10000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (France),1-5/10000 (Germany),1-5/10000 (Hungary),1-5/10000 (Ireland),1-5/10000 (Italy),1-5/10000 (Malta),1-5/10000 (Netherlands),1-5/10000 (Norway),1-5/10000 (Poland),1-5/10000 (Portugal),1-5/10000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-5/10000 (Ukraine); Age of onset: Antenatal,Neonatal


External Ids:

OMIM49 187500
Disease Ontology10 DOID:6419
ICD9CM29 745.2
NCIt42 C84505
MeSH36 D013771
Orphanet51 3303
ICD10 via Orphanet28 Q21.3
MESH via Orphanet37 D013771
UMLS via Orphanet66 C0039685
ICD1027 Q21.3
MedGen34 C0039685

Summaries for Tetralogy of Fallot

About this section
NIH Rare Diseases:45 Tetralogy of fallot is a complex congenital heart defect characterized by a large ventricular septal defect (hole between the right and left ventricles), pulmonary stenosis (narrowing of the valve and artery that connect the heart with the lungs), an overriding aorta (the aorta - the artery that carries oxygen-rich blood to the body - is shifted over the right ventricle and ventricular septal defect, instead of coming out only from the left ventricle), and right ventricular hypertrophy (the muscle of the right ventricle is thicker than usual). tetralogy of fallot causes low oxygen levels in the blood, which can lead to cyanosis (a bluish-purple color to the skin). the cause of this condition is unknown. treatment involves surgery to repair the heart defects. sometimes more than one surgery is needed.  last updated: 3/15/2012

MalaCards based summary: Tetralogy of Fallot, also known as fallot tetralogy, is related to holt-oram syndrome and velocardiofacial syndrome, and has symptoms including broad forehead, brachydactyly syndrome and intrauterine growth retardation. An important gene associated with Tetralogy of Fallot is NKX2-5 (NK2 Homeobox 5), and among its related pathways are HOP Signaling and Cardiac Progenitor Differentiation. Affiliated tissues include heart, lung and skin, and related mouse phenotypes are digestive/alimentary and skeleton.

UniProtKB/Swiss-Prot:67 Tetralogy of Fallot: A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis.

Wikipedia:68 Tetralogy of Fallot (TOF) is a congenital heart defect which is classically understood to involve four... more...

Description from OMIM:49 187500

Related Diseases for Tetralogy of Fallot

About this section

Diseases related to Tetralogy of Fallot via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 416)
idRelated DiseaseScoreTop Affiliating Genes
1holt-oram syndrome31.1NKX2-5, TBX1, TBX5
2velocardiofacial syndrome31.0CTHM, DGCR, GDF1, TBX1, UFD1L
3pulmonary valve stenosis30.9FEZF2, GATA4, GATA6, NKX2-6
4ventricular septal defect 130.4AVSD1, FEZF2, GATA4
5testicular anomalies with or without congenital heart disease30.4AVSD1, FEZF2, GATA4
6conotruncal heart malformations29.6CITED2, CTHM, DGCR, GATA4, GATA6, GDF1
7atrioventricular septal defect10.9
8ventricular septal defect10.9
9congenital heart disease10.8
10complete atrioventricular canal10.8
11right bundle branch block10.8
12aortopulmonary window10.7
13pulmonic stenosis10.7
14right aortic arch10.7
15pulmonary valve insufficiency10.7
16cor triatriatum10.7
17pulmonary atresia with ventricular septal defect10.7
18digeorge syndrome10.7
19heart valve disease10.7
20endocarditis10.7
21pulmonary valve disease10.7
22cardiomyopathy10.7
23aneurysm10.7
24respiratory failure10.6
25dextrocardia10.6
26hypertelorism and tetralogy of fallot10.6
27coronary heart disease 310.6
28pentalogy of cantrell10.6
29tetralogy of fallot and glaucoma10.6
30transposition of the great arteries10.6
31coronary heart disease 610.5
32duodenal atresia tetralogy of fallot10.5
33complete atrioventricular canal - fallot tetralogy10.5
34thrombocytopenia-absent radius syndrome10.4
35prune belly syndrome10.4
36yunis-varon syndrome10.4
37ritscher-schinzel syndrome10.4
38hemifacial microsomia10.4
39townes-brocks syndrome10.4
40mckusick-kaufman syndrome10.4
41chime syndrome10.4
42congenital heart block10.4
43congestive heart failure10.4
44holoprosencephaly10.4
45single ventricular heart10.4
46patent ductus arteriosus10.4
47hypertrophic cardiomyopathy10.4
48tracheal stenosis10.4
49subacute bacterial endocarditis10.4
50cerebritis10.4

Graphical network of the top 20 diseases related to Tetralogy of Fallot:



Diseases related to tetralogy of fallot

Symptoms for Tetralogy of Fallot

About this section

Symptoms by clinical synopsis from OMIM:

187500

Clinical features from OMIM:

187500

Symptoms:

 51 (show all 13)
  • broad forehead
  • long/large/bulbous nose
  • short hand/brachydactyly
  • clinodactyly of fifth finger
  • autosomal dominant inheritance
  • intrauterine growth retardation
  • dolichocephaly/scaphocephaly
  • flat supraorbital ridge
  • proptosis/exophthalmos
  • thin/retracted lips
  • branchial/posterior auricular/preauricular/cheek cysts/fistulae
  • tetralogy of fallot/trilogy of fallot
  • undescended/ectopic testes/cryptorchidia/unfixed testes

HPO human phenotypes related to Tetralogy of Fallot:

(show all 18)
id Description Frequency HPO Source Accession
1 broad forehead hallmark (90%) HP:0000337
2 brachydactyly syndrome hallmark (90%) HP:0001156
3 intrauterine growth retardation hallmark (90%) HP:0001511
4 clinodactyly of the 5th finger hallmark (90%) HP:0004209
5 abnormal nasal morphology hallmark (90%) HP:0005105
6 cryptorchidism typical (50%) HP:0000028
7 thin vermilion border typical (50%) HP:0000233
8 dolichocephaly typical (50%) HP:0000268
9 abnormality of periauricular region typical (50%) HP:0000383
10 proptosis typical (50%) HP:0000520
11 tetralogy of fallot typical (50%) HP:0001636
12 underdeveloped supraorbital ridges typical (50%) HP:0009891
13 autosomal dominant inheritance HP:0000006
14 broad forehead HP:0000337
15 proptosis HP:0000520
16 tetralogy of fallot HP:0001636
17 clinodactyly of the 5th finger HP:0004209
18 preauricular pit HP:0004467

Drugs & Therapeutics for Tetralogy of Fallot

About this section

Drugs for Tetralogy of Fallot (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EplerenoneapprovedPhase 487107724-20-9150310, 443872
Synonyms:
107724-20-9
7alpha-methoxycarbonyl-3-oxo-9,11alpha-epoxy-17alpha-pregn-4-ene-21,17-carbolactone
AC-4213
AC1L9FDC
C12512
CGP-30083
CHEBI:31547
CHEBI:726453
CHEMBL1095097
CID443872
D01115
Eplerenone
 
Eplerenone (JAN/USAN/INN)
Epoxymexrenone
Inspra
Inspra (TN)
Inspra, Epoxymexrenone, CGP30083, SC-66110,Eplerenone
MolPort-003-986-216
NCGC00159559-01
NCGC00159559-02
S1707_Selleck
SC-66110
Selara
TL8000270
ZINC03985982
2MineralocorticoidsPhase 4294
3Natriuretic Peptide, BrainPhase 2, Phase 3167
4
LosartanapprovedPhase 2265114798-26-43961
Synonyms:
(2-Butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
114798-26-4
124750-99-8 (mono-potassium salt)
1H-Imidazole-5-methanol, 2-butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]- (9CI)
2-Butyl-4-chloro-1-((2'-(1H-etrazol-5-yl) (1,1'-biphenyl)-4-yl)methyl)-1H-imidazole-5-methanol
2-Butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl-1H-imidazole-5-methanol
2-N-Butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-butyl-4-chloro-1-[p-(o-1H-tetrazol-5ylphenyl)benzyl]imidazole-5-methanol
2-n-butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-n-butyl-4-chloro-5-hydroxymethyl-1-[[2'-(1H-tetrazol-5-yl)-biphenyl-4-yl]methyl]imidazole
AC1L1H3Q
BIDD:GT0286
BRD-K76205745-001-02-5
BSPBio_002695
C07072
C22H23ClN6O
CHEBI:6541
CHEMBL191
CID3961
CL23623
Cozaar
D08146
DB00678
DUP 89
DuP 89
DuP-753
HMS1922J13
HMS2093E22
Hyzaar
I14-9710
Jsp001094
KBio2_002193
 
KBio2_004761
KBio2_007329
KBio3_001915
KBioGR_001611
KBioSS_002193
L000351
LOSARTAN POTASSIUM
LS-78746
Lacidipine
Lortaan
Losartan
Losartan (INN)
Losartan Potassium
Losartan [INN:BAN]
Losartan monopotassium salt
Losartic
Losartic (TN)
MK-954
MK954
MolPort-003-666-553
NCGC00095125-01
NCGC00095125-02
NCGC00095125-03
Oprea1_644635
SPBio_001893
SPECTRUM1504268
Spectrum2_001677
Spectrum3_000998
Spectrum4_001126
Spectrum5_001466
Spectrum_001713
UNII-JMS50MPO89
[2-butyl-5-chloro-3-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]imidazol-4-yl]methanol
losartan
losartan potassium
5Angiotensin II Type 1 Receptor BlockersPhase 2928
6
Angiotensin IIPhase 298568521-88-0, 11128-99-7172198
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II
7
DexmedetomidineapprovedPhase 1420113775-47-668602, 5311068, 56032
Synonyms:
(+)-4-((S)-alpha,2,3-Trimethylbenzyl)imidazole
(+)-4-((S)-alpha,2,3-trimethylbenzyl)imidazole
(+)-medetomidine
(S)-medetomidine
113775-47-6
4-[(1S)-1-(2,3-Dimethylphenyl)ethyl]-1H-imidazole
4-[(1S)-1-(2,3-dimethylphenyl)ethyl]-1H-imidazole
5-[(1S)-1-(2,3-dimethylphenyl)ethyl]-1H-imidazole
AC1NSJXT
C07450
CHEBI:4466
CHEMBL778
CID5311068
D00514
DEXMEDETOMIDINE
Dexdor (T)
 
Dexmedetomidin
Dexmedetomidina
Dexmedetomidine
Dexmedetomidine (USAN/INN)
Dexmedetomidine Hydrochloride
Dexmedetomidinum
Dexmédétomidine
MPV 1440
MPV-1440
Medetomidina [Spanish]
Medetomidine
Medetomidinum [Latin]
NCGC00025347-01
PRECEDEX
Precedex
Precedex (TN)
Tocris-2023
ZINC04632106
8Adrenergic alpha-2 Receptor AgonistsPhase 1732
9
Fentanylapproved, illicit, investigational649437-38-73345
Synonyms:
1-Phenethyl-4-(N-phenylpropionamido)piperidine
1-Phenethyl-4-N-propionylanilinopiperidine
437-38-7
5-22-08-00049 (Beilstein Handbook Reference)
80832-90-2
990-73-8 (citrate)
AC1L1FQ2
Abstral
Actiq
BIDD:GT0555
BRN 0494484
CHEBI:119915
CHEMBL596
CID3345
D00320
DB00813
Duragesic
Duragesic (TN)
Duragesic-100
Duragesic-12
Duragesic-25
Duragesic-50
Duragesic-75
Durogesic
EINECS 207-113-6
Fentanest
Fentanil
Fentanil [DCIT]
Fentanila
Fentanila [INN-Spanish]
Fentanilo
Fentanyl
Fentanyl (JAN/USAN/INN)
Fentanyl - Novaplus
Fentanyl Citrate
Fentanyl [INN:BAN]
Fentanyl citrate
Fentanyl-100
 
Fentanyl-12
Fentanyl-25
Fentanyl-50
Fentanyl-75
Fentanylum
Fentanylum [INN-Latin]
HSDB 3329
IONSYS
JNS020QD
L001275
LS-124439
Lazanda
Matrifen
MolPort-003-847-369
N-(1-Phenethyl-4-piperidinyl)-N-phenylpropionamide
N-(1-Phenethyl-4-piperidyl)propionanilide
N-(1-Phenethyl-piperidin-4-yl)-N-phenyl-propionamide
N-(1-Phenethylpiperidin-4-yl)-N-phenylpropionamide
N-(1-phenethylpiperidin-4-yl)-N-phenylpropanamide
N-Phenethyl-4-(N-propionylanilino)piperidine
N-Phenyl-N-(1-(2-phenylethyl)-4-piperidinyl)propanamide
N-phenyl-N-[1-(2-phenylethyl)piperidin-4-yl]propanamide
NCGC00168252-01
Nasalfent
Oprea1_152073
Oprea1_207148
PDSP1_000860
PDSP2_000846
Pentanyl
Phentanyl
Propanamide, N-phenyl-N-(1-(2-phenylethyl)-4-piperidinyl)- (9CI)
R 4263
Rapinyl
Sentonil
Sublimase
Sublimaze
Subsys
UNII-UF599785JZ
fentanyl
10
Dobutamineapproved9934368-04-236811
Synonyms:
(+-)-4-(2-((3-(P-Hydroxyphenyl)-1-methylpropyl)amino)ethyl)pyrocatechol
(+-)-4-(2-((3-(p-Hydroxyphenyl)-1-methylpropyl)amino)ethyl)pyrocatechol
3,4-Dihydroxy-N-[3-(4-hydroxyphenyl)-1-methylpropyl]-beta-phenylethylamine
3,4-dihydroxy-N-[3-(4-hydroxyphenyl)-1-methylpropyl]-beta-phenylethylamine
34368-04-2
34368-04-2 (Parent)
4-(2-{[3-(4-hydroxyphenyl)-1-methylpropyl]amino}ethyl)benzene-1,2-diol
4-(2-{[4-(4-hydroxyphenyl)butan-2-yl]amino}ethyl)benzene-1,2-diol
4-[2-[4-(4-hydroxyphenyl)butan-2-ylamino]ethyl]benzene-1,2-diol
4-{2-[3-(4-hydroxy-phenyl)-1-methyl-propylamino]-ethyl}-benzene-1,2-diol
52663-81-7 (hydrochloride)
74753-15-4
74753-15-4 (hydrobromide)
AC1L1WFF
AC1Q7AD1
BPBio1_000489
BRD-A78322124-003-03-3
BSPBio_000443
C06967
CHEBI:4670
CHEMBL926
CID36811
D03879
DB00841
DL-Dobutamine
DL-dobutamine
Dobutamin
Dobutamina
Dobutamina [INN-Spanish]
Dobutamine
Dobutamine (USP/INN)
Dobutamine Hcl
Dobutamine Hcl in Dextrose 5%
Dobutamine Hydrochloride
 
Dobutamine Tartrate (1:1), (S-(R*,R*))-Isomer
Dobutamine [USAN:BAN:INN]
Dobutamine [USAN]
Dobutamine [Usan:Ban:Inn]
Dobutamine [Usan]
Dobutamine hydrobromide
Dobutamine hydrochloride
Dobutaminum
Dobutaminum [INN-Latin]
Dobutrex
EINECS 277-982-4
HMS2089K05
Inotrex
L001157
LS-174467
LY 81929
Lilly 81929
Lopac0_000365
NCGC00015321-05
NCGC00024629-02
NCGC00024629-03
Prestwick0_000352
Prestwick1_000352
Prestwick2_000352
Prestwick3_000352
Racemic-Dobutamine
Racemic-dobutamine
SPBio_002364
UNII-0WR771DJXV
UNII-3S12J47372
dobutamine
dobutamine(usp)
rac-Dobutamine
rac-dobutamine
racemic-Dobutamine
11
Nitric Oxideapproved54010102-43-9145068
Synonyms:
(.)NO
(NO)(.)
10102-43-9
14332-28-6
295566_ALDRICH
51005-20-0
51005-21-1
53851-19-7
90452-29-2
AC1L1ADQ
AC1L3QHF
AC1Q6QZ0
AR-1K7463
Bioxyde d'azote
Bioxyde d'azote [French]
C00533
CCRIS 4319
CHEMBL1200689
CHEMBL1234765
CID145068
CID945
D00074
D009569
DB00435
EDRF
EINECS 233-271-0
Endogenous Nitrate Vasodilator
Endothelium-Derived Nitric Oxide
HNO
HSDB 1246
INOmax
INOmax (TN)
Inomax
LS-192158
LS-7547
MolPort-003-929-452
Mononitrogen monoxide
Monoxide, Mononitrogen
Monoxide, Nitrogen
Monoxido de nitrogeno
Monoxyde d'azote
NITRIC-OXIDE
NO
NO(.)
Nitrate Vasodilator, Endogenous
Nitric Oxide, Endothelium Derived
 
Nitric Oxide, Endothelium-Derived
Nitric oxide
Nitric oxide (JAN)
Nitric oxide 10% by volume or more
Nitric oxide trimer
Nitric oxide, compressed [UN1660] [Poison gas]
Nitric oxide, compressed [UN1660] [Poison gas]
Nitrogen monoxide
Nitrogen oxide
Nitrogen oxide (NO)
Nitrogen protoxide
Nitrosyl
Nitrosyl hydride
Nitrosyl hydride ((NO)H)
Nitrosyl radical
Nitroxide radical
Nitroxyl
OHM 11771
Oxide, Nitric
Oxido de nitrogeno(ii)
Oxido nitrico
Oxyde azotique
Oxyde nitrique
Oxyde nitrique [French]
RCRA waste no. P076
Stickmonoxyd
Stickmonoxyd [German]
Stickstoff(II)-oxid
Stickstoff(ii)-oxid
Stickstoffmonoxid
UN 1660
UN1660
UNII-31C4KY9ESH
Vasodilator, Endogenous Nitrate
[NO]
endothelium-derived relaxing factor
monoxido de nitrogeno
monoxyde d'azote
nitric oxide
nitrogen monooxide
nitrogen monoxide
nitrosyl
oxido de nitrogeno(II)
oxido nitrico
oxidonitrogen(.)
oxoazanyl
oxyde azotique
12Calcium, Dietary3529
13Gadobenic acid82
14Gadolinium DTPA82
15
Citric Acidnutraceutical78477-92-9311
Synonyms:
2-Hydroxy-1,2,3-propanetricarboxylate
2-Hydroxy-1,2,3-propanetricarboxylic acid
2-Hydroxytricarballylic acid
3-Carboxy-3-hydroxypentane-1,5-dioate
3-Carboxy-3-hydroxypentane-1,5-dioic acid
Aciletten
Anhydrous citrate
Anhydrous citric acid
Chemfill
Citraclean
 
Citrate
Citretten
Citric acid
Citro
Citronensäure
E 330
Hydrocerol A
Kyselina citronova
Suby G
Uro-trainer
beta-Hydroxytricarballylate
beta-Hydroxytricarballylic acid
16CitrateNutraceutical784

Interventional clinical trials:

(show all 41)
idNameStatusNCT IDPhase
1Myocardial Protection and Clinical Outcome in Patients Undergoing Tetralogy of Fallot Repair : A Randomized Study of Two Different Cardioplegia TechniqueCompletedNCT02646254Phase 4
2The Effects of Eplerenone on Markers of Myocardial Fibrosis in Adult Congenital Heart DiseaseTerminatedNCT01971593Phase 4
3Multi-center Trial of Percutaneous Pulmonary Valve Implantation With Venus-pRecruitingNCT02590679Phase 2, Phase 3
4Effects of rhBNP in Pediatrics After Corrective Repair of Tetralogy Of FallotNot yet recruitingNCT01941576Phase 2, Phase 3
5Cardiac Function Under Stress for Early Detection of the Right Ventricular Insufficiency After Repair of Tetralogy of FallotTerminatedNCT00564993Phase 3
6Right Ventricular Dysfunction in Tetralogy of Fallot: Inhibition of the Renin-angiotensin-aldosterone SystemRecruitingNCT02010905Phase 2
7Understanding Dexmedetomidine In Infants Post-Operative From Cardiac SurgeryCompletedNCT00573066Phase 1
8Understanding Dexmedetomidine in Neonates After Open Heart SurgeryCompletedNCT00576381Phase 1
9A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and PharmacokineticsRecruitingNCT01915277Phase 1
10Follow up of Post-repair Tetralogy of FallotCompletedNCT00266188
11Tetralogy of Fallot Seed GrantCompletedNCT00722826
12Early Re-intervention in Infants and Small Children After Correction of Tetralogy of FallotCompletedNCT00536432
13Comparison of Two Pulmonary Valve Replacement Methods to Treat Tetralogy of FallotCompletedNCT00112320
14Right Ventricular Contractility Reserve Following Repair of Tetralogy of FallotCompletedNCT00557934
15Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac DefectsCompletedNCT00004361
16Assessment of Right Ventricular Volume in Tetralogy of Fallott (TOF) PatientsCompletedNCT01419756
17Predictors for Pulmonary Valve Replacement - Anatomic and Hemodynamic Using MRICompletedNCT00489788
18Retrospective Pulmonary Valve Replacement ImagingCompletedNCT00446108
19MRI Assessment of RV Function: Patients With TOF or Aortic CoarctationCompletedNCT00277901
20Measures to Lower the Stress Response in Pediatric Cardiac SurgeryCompletedNCT00848393
21Myocardial Contrast Echocardiography in Congenital Heart DiseaseCompletedNCT00412685
22Reproduction and Survival After Cardiac Defect RepairCompletedNCT00005190
23Assessment of Left and Right Ventricular Function in Patients With Ebstein Anomaly With Different Echocardiographic MethodsCompletedNCT01907971
24Pilot Study of B-Type Natrieutic Peptide (BNP) Levels in Patients With Congenital Heart Disease(BNP)CompletedNCT00308230
25Right and Left Ventricle Remodeling Predictors After Pulmonary Valve Replacement in Patients With Repaired Tetralogy of FallotRecruitingNCT02186691
26Biomodel in Tetralogy of FallotRecruitingNCT00155428
27Haemodynamics and Function of the Atria in Congenital Heart Disease by Cardiovascular Magnetic ResonanceRecruitingNCT02161471
28Examining Developmental Changes in Heart Contractions of Children With Congenital Heart DefectsRecruitingNCT00860327
29Early Revalvulation After Fallot Repair Improves Clinical OutcomeRecruitingNCT02534792
30Calcium Current in Human Heart CellsRecruitingNCT00243776
31T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart DiseaseRecruitingNCT02350829
32Quality of Life in Young Adults With Congenital Heart DiseaseRecruitingNCT02463292
33Pulmonary Artery Repair With Covered StentsActive, not recruitingNCT01824160
34Study of the Native Outflow Tract Transcatheter Pulmonary Valve (TPV)Active, not recruitingNCT01762124
35Melody Transcatheter Pulmonary Valve Study: Post Approval Study of the Original IDE CohortActive, not recruitingNCT00740870
36Pilot Study of Inhaled Nitric Oxide to Treat Pulmonary Insufficiency in Congenital Heart DiseaseActive, not recruitingNCT00543933
37Prenatal Effects of Congenital Heart Disease (CHD) on Neurodevelopmental OutcomeActive, not recruitingNCT00713635
38Exercise Training in Adults With Corrected Tetralogy of FallotEnrolling by invitationNCT02643810
39Retrospective Review of Anesthetic Considerations for Pulmonary Artery RehabilitationNot yet recruitingNCT02586740
40Optimal Timing for Repair of Right-to-Left Shunt LesionsTerminatedNCT00268099
41Adult Pulmonary Valve Replacement: A Simple and Reproducible TechniqueTerminatedNCT00384163

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Cochrane evidence based reviews: Tetralogy of Fallot

Genetic Tests for Tetralogy of Fallot

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Genetic tests related to Tetralogy of Fallot:

id Genetic test Affiliating Genes
1 Tetralogy of Fallot22 24 GDF1, NKX2-5

Anatomical Context for Tetralogy of Fallot

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MalaCards organs/tissues related to Tetralogy of Fallot:

33
Heart, Lung, Skin, Testes, Brain, Trachea, Placenta

Animal Models for Tetralogy of Fallot or affiliated genes

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MGI Mouse Phenotypes related to Tetralogy of Fallot:

38 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538110.4CITED2, GATA4, GATA5, GDF1, GJA5, JAG1
2MP:000539010.4CITED2, GATA4, GATA5, GDF1, GJA1, JAG1
3MP:000538210.3CITED2, FEZF2, GDF1, GJA1, HEY2, JAG1
4MP:000538410.1CITED2, FEZF2, GATA4, GATA5, GATA6, GDF1
5MP:000536910.0GATA4, GATA5, GATA6, GJA1, GJA5, HEY2
6MP:000287310.0CITED2, GATA4, GATA6, GDF1, GJA1, GJA5
7MP:000538010.0CITED2, GATA4, GATA6, GDF1, GJA1, HEY2
8MP:00053799.9CITED2, GATA4, GATA5, GDF1, GJA1, GJA5
9MP:00053789.9CITED2, FEZF2, GATA4, GATA6, GDF1, GJA1
10MP:00053859.8CITED2, GATA4, GATA5, GATA6, GDF1, GJA1
11MP:00053889.7CITED2, FEZF2, GATA4, GATA6, GDF1, GJA1
12MP:00107689.6CITED2, FEZF2, GATA4, GATA5, GATA6, GDF1
13MP:00053979.6CITED2, GATA4, GATA6, GDF1, GJA1, GJA5
14MP:00053769.5CITED2, GATA4, GATA5, GATA6, GJA1, GJA5

Publications for Tetralogy of Fallot

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Articles related to Tetralogy of Fallot:

(show top 50)    (show all 802)
idTitleAuthorsYear
1
Aortic Coarctation Diagnosed During Pregnancy in a Woman With Repaired Tetralogy of Fallot. (26354665)
2015
2
Stenting of the right ventricular outflow tract in a symptomatic newborn with tetralogy of Fallot. (25848370)
2015
3
Rationale and Design of the Canadian Outcomes Registry Late After Tetralogy of Fallot Repair: The CORRELATE Study. (25239650)
2014
4
Functional analysis of the anatomical right ventricular components: should assessment of right ventricular function after repair of tetralogy of Fallot be refined? (24186927)
2014
5
Neurohormonal activation and its relation to outcomes late after repair of tetralogy of Fallot. (25351509)
2014
6
Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with tetralogy of fallot. (24400131)
2014
7
Tetralogy of Fallot with double aortic arch and discontinuous left pulmonary artery. (25319093)
2014
8
Altered diastolic left atrial and ventricular performance in asymptomatic patients after repair of tetralogy of Fallot. (23179427)
2013
9
Dobutamine stress MRI in repaired tetralogy of Fallot with chronic pulmonary regurgitation: a comparison with healthy volunteers. (22154014)
2013
10
Physiological and phenotypic characteristics of late survivors of tetralogy of fallot repair who are free from pulmonary valve replacement. (24065608)
2013
11
Role of myocardial hypertrophy on acute and chronic right ventricular performance in relation to chronic volume overload in aA porcine model: Relevance for the surgical management of tetralogy of Fallot. (24280710)
2013
12
Sympathetic paraganglioma in a patient with unrepaired tetralogy of Fallot: a case report and review of the literature. (23150681)
2013
13
Left Ventricular Mechanics in Repaired Tetralogy of Fallot with and without Pulmonary Valve Replacement: Analysis by Three-Dimensional Speckle Tracking Echocardiography. (24223166)
2013
14
Primary repair of tetralogy of Fallot in infants: Transatrial/transpulmonary or transventricular approach. (24054755)
2013
15
DNA sequencing of TGFI^2 in sporadic patients with tetralogy of Fallot. (22969986)
2012
16
Assessment of a right-ventricular infundibulum-sparing approach in transatrial-transpulmonary repair of tetralogy of Fallot. (21592812)
2012
17
Catch-up growth in children after repair of Tetralogy of Fallot. (22309977)
2012
18
Novel GATA6 mutations associated with congenital ventricular septal defect or tetralogy of fallot. (23020118)
2012
19
Tetralogy of Fallot with Holt-Oram syndrome. (22572437)
2012
20
Double-barrel right ventricular outflow: tetralogy of Fallot annulus preservation technique. (22916765)
2012
21
Tetralogy of Fallot: fetal diagnosis to surgical correction. (22992529)
2012
22
Outcome after repair of atrioventricular septal defect with tetralogy of Fallot. (21855095)
2012
23
Postoperative tetralogy of fallot with concomitant atrial fibrillation and ventricular tachycardia. (22808576)
2012
24
Psychosocial impact of implantable cardioverter defibrillators (ICD) in young adults with Tetralogy of Fallot. (22314278)
2012
25
Influence of RV restrictive physiology on LV diastolic function in children after tetralogy of Fallot repair. (22727200)
2012
26
Electrical dyssynchrony and resynchronization in tetralogy of Fallot. (21195208)
2011
27
Mutational analysis of JAG1 gene in non-syndromic tetralogy of Fallot children. (21893051)
2011
28
Investigation of somatic NKX2-5, GATA4 and HAND1 mutations in patients with tetralogy of Fallot. (21519287)
2011
29
Successful delivery by a cesarean section in a parturient with severe dilated cardiomyopathy, an implantable cardioverter defibrillator, and a repaired tetralogy of fallot. (21731806)
2011
30
A statistical model for quantification and prediction of cardiac remodelling: application to tetralogy of Fallot. (21880565)
2011
31
A case of Seckel syndrome with Tetralogy of Fallot. (20420029)
2010
32
Chondrodysplasia punctata associated with tetralogy of Fallot in a newborn infant. (20681228)
2010
33
Genetic screening of the canine zinc finger protein multitype 2 (cZFPM2) gene in dogs with tetralogy of Fallot (TOF). (19630881)
2009
34
Pre-operative evaluation with magnetic resonance imaging in tetralogy of fallot and pulmonary atresia with ventricular septal defect. (18575288)
2008
35
Ventricular non-compaction in the setting of double-outlet right ventricle (tetralogy of Fallot type) with doubly committed subarterial ventricular septal defect. (17435076)
2007
36
Anesthesia in an infant with uncorrected tetralogy of Fallot for transanal pull-through for Hirschsprung's disease. (16409542)
2006
37
Initial experience with Bosentan therapy in patients with the Eisenmenger syndrome: Tetralogy of Fallot? (15670566)
2005
38
A female with complete lack of MA1llerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome? (15266619)
2004
39
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. (14517948)
2003
40
Autosomal recessive tetralogy of Fallot, unusual facies, communicating hydrocephalus, and delayed language development: a new syndrome? (11152158)
2001
41
Around PediHeart: Double-Outlet Right Ventricle Versus Tetralogy of Fallot. (10982711)
2000
42
Branch pulmonary artery growth after blalock-taussig shunts in tetralogy of fallot and pulmonary atresia with ventricular septal defect: a retrospective, echocardiographic study. (10441692)
1999
43
Atrioventricular septal defect with tetralogy of Fallot: results of surgical correction. (9930496)
1998
44
A familial disorder with duodenal atresia and tetralogy of Fallot. (8957509)
1996
45
Expression of proto-oncogenes, genes for muscle specific isoforms and heat shock protein (HSP) -70 gene in hypertrophied cardiac muscles from patients with atrial septal defect or tetralogy of Fallot. (7833841)
1994
46
Surgical treatment of tetralogy of Fallot and pulmonary atresia with ventricular septal defect. (8279911)
1994
47
Determination of infundibular innervation and amine receptor content in cyanotic and acyanotic myocardium: relation to clinical events in tetralogy of Fallot. (1652127)
1991
48
Complete atrioventricular canal associated with tetralogy of Fallot. (3566399)
1987
49
Repair of complete atrioventricular canal associated with tetralogy of Fallot or double-outlet right ventricle: report of 10 patients. (6987965)
1980
50
Collateral circulation in subclavian atresia. Report of a case with right aortic arch and tetralogy of Fallot. (4245508)
1969

Variations for Tetralogy of Fallot

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UniProtKB/Swiss-Prot genetic disease variations for Tetralogy of Fallot:

67 (show all 17)
id Symbol AA change Variation ID SNP ID
1GATA4p.Pro407GlnVAR_067619rs115099192
2GATA4p.Ala9ProVAR_071514
3GATA4p.Leu51ValVAR_071515
4GATA4p.Asn285SerVAR_071516
5GATA6p.Ser184AsnVAR_067382
6GDF1p.Gly162AspVAR_065333
7GDF1p.Ser309ProVAR_065336
8GDF1p.Pro312ThrVAR_065337
9JAG1p.Gly274AspVAR_013200rs28939668
10NKX2-5p.Glu21GlnVAR_038215
11NKX2-5p.Gln22ProVAR_038216
12NKX2-5p.Arg216CysVAR_038239
13NKX2-5p.Ala219ValVAR_038240
14NKX2-5p.Ala323ThrVAR_038253
15ZFPM2p.Glu30GlyVAR_017942rs121908601
16ZFPM2p.Ser657GlyVAR_017943rs28374544
17ZFPM2p.Met544IleVAR_072075

Clinvar genetic disease variations for Tetralogy of Fallot:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1GATA4NM_002052.4(GATA4): c.487C> T (p.Pro163Ser)single nucleotide variantPathogenicrs387906769GRCh37Chr 8, 11566308: 11566308
2GATA4NM_002052.4(GATA4): c.1220C> A (p.Pro407Gln)single nucleotide variantPathogenicrs115099192GRCh37Chr 8, 11615875: 11615875
3GATA4GATA4, 3-BP INS, 354GCCinsertionPathogenic
4GATA6NM_005257.5(GATA6): c.592C> G (p.Leu198Val)single nucleotide variantPathogenicrs387906814GRCh37Chr 18, 19751697: 19751697
5GATA6NM_005257.5(GATA6): c.551G> A (p.Ser184Asn)single nucleotide variantPathogenicrs387906816GRCh37Chr 18, 19751656: 19751656
6NM_012082.3(ZFPM2): c.1632G> A (p.Met544Ile)single nucleotide variantPathogenicrs187043152GRCh38Chr 8, 105801714: 105801714
7NM_012082.3(ZFPM2): c.1969A> G (p.Ser657Gly)single nucleotide variantPathogenicrs28374544GRCh37Chr 8, 106814279: 106814279
8ZFPM2NM_012082.3(ZFPM2): c.89A> G (p.Glu30Gly)single nucleotide variantPathogenicrs121908601GRCh37Chr 8, 106431420: 106431420
9NM_001492.5(GDF1): c.485G> A (p.Gly162Asp)single nucleotide variantPathogenicrs121434424GRCh37Chr 19, 18980040: 18980040
10TBX1TBX1, 30-BP DUP, NT1399duplicationPathogenic
11JAG1NM_000214.2(JAG1): c.821G> A (p.Gly274Asp)single nucleotide variantPathogenicrs28939668GRCh37Chr 20, 10633181: 10633181
12NKX2-5NM_004387.3(NKX2-5): c.646C> T (p.Arg216Cys)single nucleotide variantPathogenicrs104893905GRCh37Chr 5, 172659901: 172659901
13NKX2-5NM_004387.3(NKX2-5): c.656C> T (p.Ala219Val)single nucleotide variantPathogenicrs104893902GRCh37Chr 5, 172659891: 172659891
14GATA4NM_002052.4(GATA4): c.1273G> A (p.Asp425Asn)single nucleotide variantPathogenicrs56208331GRCh37Chr 8, 11615928: 11615928

Expression for genes affiliated with Tetralogy of Fallot

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Search GEO for disease gene expression data for Tetralogy of Fallot.

Pathways for genes affiliated with Tetralogy of Fallot

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Pathways related to Tetralogy of Fallot according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4GATA4, NKX2-5
210.3GATA4, NKX2-5, TBX5
310.3GATA4, GATA6, HEY2
410.3GATA4, GATA5, GATA6, ZFPM2
510.1GATA4, GATA6, HEY2, NKX2-5, TBX1, TBX5

GO Terms for genes affiliated with Tetralogy of Fallot

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Cellular components related to Tetralogy of Fallot according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1connexon complexGO:000592210.5GJA1, GJA5
2gap junctionGO:000592110.3GJA1, GJA5

Biological processes related to Tetralogy of Fallot according to GeneCards Suite gene sharing:

(show top 50)    (show all 69)
idNameGO IDScoreTop Affiliating Genes
1right ventricular cardiac muscle tissue morphogenesisGO:000322111.1NKX2-5, ZFPM2
2atrial cardiac muscle cell developmentGO:005501411.1NKX2-5, NKX2-6
3positive regulation of cell communication by chemical couplingGO:001065211.1GJA1, GJA5
4bundle of His developmentGO:000316611.1NKX2-5, TBX5
5regulation of cardiac muscle cell proliferationGO:006004311.1GATA4, NKX2-5
6ventricular cardiac muscle tissue developmentGO:000322911.1GATA4, TBX5
7embryonic heart tube left/right pattern formationGO:006097111.1CITED2, NKX2-5
8gap junction assemblyGO:001626411.1GJA1, GJA5
9atrial septum developmentGO:000328311.0GJA5, TBX5
10cardiac ventricle morphogenesisGO:000320811.0GATA4, HEY2, NKX2-5
11pulmonary valve morphogenesisGO:000318411.0HEY2, JAG1
12positive regulation of secondary heart field cardioblast proliferationGO:007251311.0TBX1, TBX5
13tube morphogenesisGO:003523911.0GATA4, GATA6
14pharyngeal system developmentGO:006003711.0NKX2-5, NKX2-6, TBX1
15cardiac right ventricle morphogenesisGO:000321511.0GATA4, HEY2, JAG1
16cardiac muscle tissue developmentGO:004873810.9GATA4, GATA6, NKX2-5, ZFPM2
17pulmonary artery morphogenesisGO:006115610.9CITED2, HEY2, JAG1
18outflow tract septum morphogenesisGO:000314810.9GATA6, NKX2-5, TBX1, ZFPM2
19positive regulation of cardioblast differentiationGO:005189110.9GATA4, GATA6, NKX2-5, TBX5
20cardiac conduction system developmentGO:000316110.9GJA5, NKX2-5
21embryonic heart tube developmentGO:003505010.9GATA4, GJA5, NKX2-5, NKX2-6
22endothelium developmentGO:000315810.9GJA1, GJA5
23ventricular cardiac muscle cell developmentGO:005501510.9HEY2, NKX2-5, NKX2-6
24positive regulation of cardiac muscle cell proliferationGO:006004510.9GATA4, GATA6, HEY2, TBX5
25heart loopingGO:000194710.9CITED2, GATA4, NKX2-5
26intestinal epithelial cell differentiationGO:006057510.9GATA4, GATA5, GATA6
27cardiac muscle hypertrophy in response to stressGO:001489810.9GATA4, GATA6, HEY2
28cell communicationGO:000715410.8GJA1, GJA5, JAG1
29cardiac muscle cell differentiationGO:005500710.8GATA4, GATA6, NKX2-5, TBX5
30cell fate commitmentGO:004516510.8GATA4, GATA5, GATA6, HEY2
31pattern specification processGO:000738910.8HEY2, TBX1, TBX5
32ventricular septum morphogenesisGO:006041210.8CITED2, GJA5, HEY2, NKX2-5, ZFPM2
33endocardial cushion developmentGO:000319710.8CITED2, GATA4, TBX5
34cell communication by electrical couplingGO:001064410.8GJA1, GJA5
35vasculogenesisGO:000157010.7CITED2, HEY2, NKX2-5, ZFPM2
36cell developmentGO:004846810.7GATA4, GATA5, GATA6, GDF1
37ventricular septum developmentGO:000328110.7CITED2, GATA4, GJA5, TBX5
38cardiac septum morphogenesisGO:006041110.6CITED2, HEY2, JAG1
39atrial septum morphogenesisGO:006041310.6GATA4, GJA5, HEY2, NKX2-5, TBX5
40outflow tract morphogenesisGO:000315110.5CITED2, GJA5, HEY2, NKX2-5, TBX1
41heart morphogenesisGO:000300710.5GATA4, NKX2-5, TBX1
42blood vessel developmentGO:000156810.4CITED2, GJA5, HEY2, TBX1
43positive regulation of male gonad developmentGO:200002010.4CITED2, ZFPM2
44negative regulation of transcription, DNA-templatedGO:004589210.3CITED2, FEZF2, GATA6, HEY2, NKX2-5, ZFPM2
45positive regulation of transcription, DNA-templatedGO:004589310.3CITED2, FEZF2, GATA4, GATA5, GATA6, NKX2-5
46negative regulation of transcription from RNA polymerase II promoterGO:000012210.2CITED2, FEZF2, GATA6, HEY2, NKX2-5, ZFPM2
47transcription from RNA polymerase II promoterGO:000636610.0FEZF2, GATA4, GATA5, GATA6, NKX2-5, TBX5
48regulation of transcription, DNA-templatedGO:00063559.9CITED2, GATA4, GATA5, GATA6, HEY2, NKX2-5
49heart developmentGO:00075079.9CITED2, GATA4, GATA5, GJA1, GJA5, HEY2
50positive regulation of transcription from RNA polymerase II promoterGO:00459449.5CITED2, FEZF2, GATA4, GATA5, GATA6, HEY2

Molecular functions related to Tetralogy of Fallot according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1gap junction channel activity involved in cardiac conduction electrical couplingGO:008607511.1GJA1, GJA5
2connexin bindingGO:007125311.0GJA1, GJA5
3gap junction channel activityGO:000524311.0GJA1, GJA5
4enhancer sequence-specific DNA bindingGO:000115810.9GATA4, GATA5
5RNA polymerase II transcription factor bindingGO:000108510.9GATA4, GATA5, GATA6, ZFPM2
6transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:000370510.8GATA4, GATA5, GATA6, NKX2-5
7transcription regulatory region DNA bindingGO:004421210.7GATA4, GATA5, GATA6, NKX2-5
8transcription factor bindingGO:000813410.3GATA4, GATA6, HEY2, NKX2-5, TBX5, ZFPM2
9RNA polymerase II regulatory region sequence-specific DNA bindingGO:000097710.2FEZF2, GATA4, GATA5, GATA6, TBX5
10transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:000122810.1FEZF2, GATA4, GATA5, GATA6, NKX2-5, TBX5
11chromatin bindingGO:000368210.0CITED2, FEZF2, GATA4, GATA5, GATA6, NKX2-5
12DNA bindingGO:000367710.0GATA4, GATA5, GATA6, HEY2, NKX2-5, NKX2-6
13sequence-specific DNA bindingGO:004356510.0GATA4, GATA5, GATA6, HEY2, NKX2-5, NKX2-6
14transcription factor activity, sequence-specific DNA bindingGO:00037009.6CITED2, GATA4, GATA5, GATA6, HEY2, NKX2-5

Sources for Tetralogy of Fallot

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet