MCID: TRN044
MIFTS: 41

Transposition of the Great Arteries

Categories: Rare diseases, Respiratory diseases

Aliases & Classifications for Transposition of the Great Arteries

MalaCards integrated aliases for Transposition of the Great Arteries:

Name: Transposition of the Great Arteries 54 30 6
Transposition of the Great Arteries, Dextro-Looped 1 74
Dextro-Looped Transposition of the Great Arteries 54
Dtga 54

Classifications:



External Ids:

UMLS 74 C1837341

Summaries for Transposition of the Great Arteries

NIH Rare Diseases : 54 Transposition of the great arteries (TGA) is a type of congenital heart defect in which there is a reversal of the normal connections of the aorta and the pulmonary artery with the heart. The aorta and pulmonary artery are reversed, which causes oxygen-poor blood to be circulated to the body and oxygen-rich blood to be circulated between the lungs and the heart, rather than to the body. Symptoms are apparent at birth and include great difficulty breathing and severe cyanosis (a bluish discoloration of the skin). The exact cause of TGA in most cases is unknown. Surgery is done to correct the abnormality during the first few days of life.

MalaCards based summary : Transposition of the Great Arteries, also known as transposition of the great arteries, dextro-looped 1, is related to dextro-looped transposition of the great arteries and double outlet right ventricle. An important gene associated with Transposition of the Great Arteries is MED13L (Mediator Complex Subunit 13L). The drugs Eplerenone and Mechlorethamine have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and heart, and related phenotypes are cardiovascular system and digestive/alimentary

Related Diseases for Transposition of the Great Arteries

Diseases related to Transposition of the Great Arteries via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 154)
# Related Disease Score Top Affiliating Genes
1 dextro-looped transposition of the great arteries 33.5 GDF1 MED13L ZIC3
2 double outlet right ventricle 32.0 GDF1 NKX2-5 ZIC3
3 conotruncal heart malformations 31.9 GDF1 NKX2-5
4 ventricular septal defect 30.3 GATA5 GDF1 NKX2-5 ZIC3
5 atrial heart septal defect 30.2 GDF1 NKX2-5
6 tetralogy of fallot 30.1 GATA5 GDF1 NKX2-5
7 atrioventricular septal defect 30.1 GDF1 NKX2-5
8 patent foramen ovale 30.0 MED13L NKX2-5
9 patent ductus arteriosus 1 29.8 GDF1 NKX2-5
10 pulmonic stenosis 29.8 GATA5 ZIC3
11 aortic valve disease 1 29.6 GATA5 NKX2-5
12 heart disease 29.1 GATA5 GDF1 MED13L NKX2-5 ZIC3
13 tricuspid valve disease 29.1 GDF1 NKX2-5 ZIC3
14 transposition of the great arteries, dextro-looped 1 13.0
15 congenitally corrected transposition of the great arteries 13.0
16 dextro-looped transposition of the great arteries 3 12.8
17 isolated congenitally uncorrected transposition of the great arteries 12.5
18 congenitally uncorrected transposition of the great arteries with cardiac malformation 12.5
19 congenitally uncorrected transposition of the great arteries with coarctation 12.5
20 congenital heart defects, multiple types, 6 12.3
21 double discordia 11.9
22 heterotaxy, visceral, 1, x-linked 11.6
23 mental retardation and distinctive facial features with or without cardiac defects 11.4
24 heterotaxy, visceral, 6, autosomal 11.3
25 congenital heart defects, multiple types, 4 11.3
26 congenital heart defects, multiple types, 5 11.3
27 pulmonary hypertension 10.6
28 situs inversus 10.6
29 dextrocardia 10.6
30 vascular disease 10.5
31 tricuspid atresia 10.5
32 single ventricular heart 10.5
33 dextrocardia with situs inversus 10.5
34 aortic coarctation 10.4
35 hypoplastic left heart syndrome 1 10.4
36 hypoplastic left heart syndrome 10.4
37 rere-related disorders 10.4
38 cardiac conduction defect 10.4
39 pulmonary hypertension, primary, 1 10.4
40 aortopulmonary window 10.4
41 myocardial infarction 10.3
42 atrioventricular block 10.3
43 endocarditis 10.3
44 cor triatriatum 10.3
45 subpulmonary stenosis 10.3
46 diaphragmatic hernia, congenital 10.2
47 aortic arch interruption 10.2
48 brain injury 10.2
49 third-degree atrioventricular block 10.2
50 ischemia 10.2

Graphical network of the top 20 diseases related to Transposition of the Great Arteries:



Diseases related to Transposition of the Great Arteries

Symptoms & Phenotypes for Transposition of the Great Arteries

MGI Mouse Phenotypes related to Transposition of the Great Arteries:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.26 GATA5 GDF1 NKX2-5 ZIC3
2 digestive/alimentary MP:0005381 8.92 GATA5 GDF1 NKX2-5 ZIC3

Drugs & Therapeutics for Transposition of the Great Arteries

Drugs for Transposition of the Great Arteries (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 56)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eplerenone Approved Phase 4 107724-20-9 443872 150310
2
Mechlorethamine Approved, Investigational Phase 4 51-75-2 4033
3 Hormone Antagonists Phase 4
4 Natriuretic Agents Phase 4
5 Hormones Phase 4
6 Antihypertensive Agents Phase 4
7 Diuretics, Potassium Sparing Phase 4
8 Mineralocorticoid Receptor Antagonists Phase 4
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
10 diuretics Phase 4
11 Mineralocorticoids Phase 4
12
Nitric Oxide Approved Phase 3 10102-43-9 145068
13
Tadalafil Approved, Investigational Phase 3 171596-29-5 110635
14 Peripheral Nervous System Agents Phase 3,Phase 1
15 Antioxidants Phase 3,Phase 2
16 Neurotransmitter Agents Phase 3,Phase 1
17 Respiratory System Agents Phase 3,Phase 2
18 Protective Agents Phase 3,Phase 2
19 Free Radical Scavengers Phase 3,Phase 2
20 Vasodilator Agents Phase 3,Phase 2
21 Phosphodiesterase Inhibitors Phase 3,Phase 2
22 Autonomic Agents Phase 3
23 Endothelium-Dependent Relaxing Factors Phase 3
24 Anti-Asthmatic Agents Phase 3
25 Bronchodilator Agents Phase 3
26 Phosphodiesterase 5 Inhibitors Phase 3
27
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
28 Simendan Investigational Phase 2 131741-08-7
29 Epoetin alfa Phase 1, Phase 2 113427-24-0
30 Hematinics Phase 1, Phase 2
31 Cardiotonic Agents Phase 2
32 Phosphodiesterase 3 Inhibitors Phase 2
33 N-monoacetylcystine Phase 2
34 Expectorants Phase 2
35 Anti-Infective Agents Phase 2
36 Pharmaceutical Solutions Phase 2
37 Antiviral Agents Phase 2
38 Antidotes Phase 2
39 Plasma Substitutes Phase 2
40 Dextrans Phase 2
41 Blood Substitutes Phase 2
42 Anticoagulants Phase 2
43
Dexmedetomidine Approved, Vet_approved Phase 1 113775-47-6 5311068 68602
44 Analgesics Phase 1
45 Adrenergic Agents Phase 1
46 Adrenergic Agonists Phase 1
47 Analgesics, Non-Narcotic Phase 1
48 Central Nervous System Depressants Phase 1
49 Hypnotics and Sedatives Phase 1
50 Adrenergic alpha-Agonists Phase 1

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 Eplerenone in Systemic Right Ventricle Completed NCT00703352 Phase 4 Eplerenone
2 The Effects of Eplerenone on Markers of Myocardial Fibrosis in Adult Congenital Heart Disease Terminated NCT01971593 Phase 4 Eplerenone
3 Comparison of Hematocrit Levels in Infant Heart Surgery Completed NCT00006183 Phase 3
4 Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest Completed NCT00000470 Phase 3
5 Nitric Oxide During Bypass for Arterial Switch Operation Recruiting NCT03661385 Phase 3 Nitric Oxide
6 Effect of Phosphodiesterase-5 Inhibition With Tadalafil on SystEmic Right VEntricular Size and Function Active, not recruiting NCT03049540 Phase 3 Tadalafil 20 MG;Placebo 20 MG
7 Erythropoetin Neuroprotection for Neonatal Cardiac Surgery Unknown status NCT00513240 Phase 1, Phase 2 Erythropoetin;Normal saline
8 Levosimendan Administration in Neonates With Transposition of the Great Arteries Completed NCT01120106 Phase 2 levosimendan;placebo
9 N-Acetylcysteine in Neonatal Congenital Heart Surgery (INACT Study) Completed NCT00374088 Phase 2 N-acetylcysteine;Placebo
10 Hypertonic Saline Dextran in Pediatric Cardiac Surgery Completed NCT00199771 Phase 2 7.5% NaCl in 6% dextran 70 solution
11 Autologous Umbilical Cord Blood Treatment of Neonate With CHD Not yet recruiting NCT03558269 Phase 1, Phase 2
12 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Completed NCT01915277 Phase 1 Dexmedetomidine
13 Cardiovascular MRI and Cardiopulmonary Exercise Capacity After Neonatal ASO) in Young Adults Unknown status NCT02415491 Not Applicable
14 Comparative Assessment of Coronary MR Angiography Vs Coronary Multislice CT After Coronary Artery Reimplantation in Children and Young Adults. Unknown status NCT02542345 Not Applicable
15 Assessing Neurodevelopment in Congenital Heart Disease. Unknown status NCT02996630 Not Applicable
16 T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart Disease Unknown status NCT02350829 Not Applicable
17 Late Function After Surgery for Transposition of the Great Arteries Completed NCT03078413
18 MRI Study After Arterial Switch Operation in Patients With Transposition of the Great Arteries Completed NCT01916499
19 Effects of Beta-adrenergic in Adults w/Transposition of Great Arteries on Systemic Ventricular Function Completed NCT00313352
20 Physical Training in Transposition of the Great Arteries Completed NCT00837603 Not Applicable
21 CT Coronary Angiography After Arterial Switch Operation Completed NCT01153776 Not Applicable
22 Right Ventricular Hypertrophy After Atrial Switch and Cardiovascular Magnetic Resonance (CMR) Findings Completed NCT01430897
23 Myocardial Contrast Echocardiography in Congenital Heart Disease Completed NCT00412685
24 Oxygen Consumption-based Assessments of Hemodynamics in Neonates Following Congenital Heart Surgery (Oxy-CAHN Study) Completed NCT02184169 Not Applicable
25 Assessment of Left and Right Ventricular Function in Patients With Ebstein Anomaly With Different Echocardiographic Methods Completed NCT01907971
26 Quality of Life in Young Adults With Congenital Heart Disease Completed NCT02463292
27 Prenatal Effects of Congenital Heart Disease (CHD) on Neurodevelopmental Outcome Completed NCT00713635
28 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
29 Genes Causing Ebstein's Anomaly Completed NCT00497705
30 A Randomized Controlled Trial:Treatments on Infundibular Ventricular Septal Defect Completed NCT02361008 Not Applicable
31 Pilot Study of B-Type Natrieutic Peptide (BNP) Levels in Patients With Congenital Heart Disease(BNP) Completed NCT00308230 Not Applicable
32 Characterization of the Cardiac Reinnervation of Patients With Transposition of the Great Arteries Long After Repair With the Arterial Switch Operation. Correlation With Electrocardiographic and Exercise Test Parameters Recruiting NCT03469843
33 Fibrosis, Valvular and Ventricular Function in Patients With TGA Recruiting NCT02588989
34 Acute Maternal Hyperoxygenation for Fetal Transposition of the Great Arteries (TGA) Recruiting NCT03771534 Not Applicable Oxygen gas
35 Genetic Determinants of Congenital Heart Disease Outcomes Recruiting NCT01656941
36 Sudden Cardiac Death in Systemic Right Ventricle Recruiting NCT03833843
37 Haemodynamics and Function of the Atria in Congenital Heart Disease by Cardiovascular Magnetic Resonance Recruiting NCT02161471
38 The Boston Circulatory Arrest Study: Antecedents and Correlates of Well-Being in Adults With Congenital Heart Disease Recruiting NCT03073122
39 A Pilot Study- Monitoring Cerebral Blood Flow in Neonates With Congenital Heart Defects Recruiting NCT03512613
40 Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility Study Recruiting NCT03022708 Not Applicable
41 Initiation of Resuscitation While Attached to the Cord With Congenital Heart Disease Recruiting NCT03690245 Not Applicable
42 COMPASSION S3 - Evaluation of the SAPIEN 3 Transcatheter Heart Valve in Patients With Pulmonary Valve Dysfunction Recruiting NCT02744677 Not Applicable
43 Surgical Planning for Reconstruction of Complex Heart Defects Recruiting NCT00972608
44 Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract Reconstruction Active, not recruiting NCT02700100 Not Applicable
45 Myocardial Perfusion and Scarring in Congenital Heart Disease Suspended NCT01639937

Search NIH Clinical Center for Transposition of the Great Arteries

Genetic Tests for Transposition of the Great Arteries

Genetic tests related to Transposition of the Great Arteries:

# Genetic test Affiliating Genes
1 Transposition of the Great Arteries 30

Anatomical Context for Transposition of the Great Arteries

MalaCards organs/tissues related to Transposition of the Great Arteries:

42
Skin, Brain, Heart, Kidney, Testes, Atrioventricular Node, Pituitary

Publications for Transposition of the Great Arteries

Articles related to Transposition of the Great Arteries:

(show top 50) (show all 1941)
# Title Authors Year
1
Ventricular assist device in a patient with congenitally corrected transposition of the great arteries and situs inversus totalis. ( 30630389 )
2019
2
Successful Left Ventricular Lead Placement in Congenitally Corrected Transposition of the Great Arteries and Situs Inversus. ( 30898247 )
2019
3
Pulmonary Artery Banding for Congenitally Corrected Transposition of the Great Arteries With Hydrops Fetalis: A Case Report. ( 31018764 )
2019
4
Congenitally Corrected Transposition of the Great Arteries: Anatomic, Physiologic Repair, and Palliation. ( 31027562 )
2019
5
Mechanical Support for Patients With Congenitally Corrected Transposition of the Great Arteries and End-Stage Ventricular Dysfunction. ( 31027567 )
2019
6
Sudden death in transposition of the great arteries with atrial switch surgery: Autopsy evidence of acute myocardial ischemia despite normal coronary arteries. ( 30808604 )
2019
7
Left ventricular remodelling in long-term survivors after the arterial switch operation for transposition of the great arteries. ( 29800129 )
2019
8
Bridge to Transplantation With Long-Term Mechanical Assist Devices in Adults With Transposition of the Great Arteries. ( 30129258 )
2019
9
Evaluation of Left Ventricular Function Long Term After Arterial Switch Operation for Transposition of the Great Arteries. ( 30203292 )
2019
10
Longitudinal Associations between Neurodevelopment and Psychosocial Health Status in Patients with Repaired D-Transposition of the Great Arteries. ( 30274922 )
2019
11
Long-term outcome after atrial correction for transposition of the great arteries. ( 30415204 )
2019
12
Diffuse myocardial fibrosis in adolescents operated with arterial switch for transposition of the great arteries - A CMR study. ( 30527348 )
2019
13
Pregnancy outcomes and mid-term prognosis in women after arterial switch operation for dextro-transposition of the great arteries - Tertiary hospital experiences and review of literature. ( 30579805 )
2019
14
Evaluation of coronary artery variations using dual-source coronary computed tomography angiography in neonates with transposition of the great arteries. ( 30603834 )
2019
15
Posterolateral Line: An Alternative to Cavotriscupid Isthmus Ablation for Treatment of Peritricuspid Re-Entry in Patients With Dextro-Transposition of the Great Arteries and Mustard Operation. ( 30678780 )
2019
16
A better approach for left ventricular training in transposition of the great arteries and intact interventricular septum: Bidirectional cavopulmonary anastomosis and pulmonary artery banding. ( 30681770 )
2019
17
Fetal and postnatal echocardiographic imaging of transposition of the great arteries with the aortic valve posterior to the pulmonary valve. ( 30801777 )
2019
18
Rastelli Operation for D-Transposition of the Great Arteries, Ventricular Septal Defect, and Pulmonary Stenosis. ( 30841838 )
2019
19
Morphological and Functional Characteristics of the Right Ventricle Functioning as a Systemic Ventricle for Decades After an Atrial Switch Procedure for Complete Transposition of the Great Arteries. ( 30955865 )
2019
20
Ductal stenting to retrain the involuted left ventricle in d-transposition of the great arteries. ( 30998905 )
2019
21
Right and Left Ventricular Strain Patterns After the Atrial Switch Operation for D-Transposition of the Great Arteries-A Magnetic Resonance Feature Tracking Study. ( 31024933 )
2019
22
Anatomic Repair of Corrected Transposition of the Great Arteries: The Double Switch. ( 31027565 )
2019
23
Prediction and prevention of sudden cardiac death in transposition of the great arteries: A step closer. ( 31029496 )
2019
24
A Minimally Invasive Approach to HeartMate 3 Implantation for Systemic Ventricular Failure Following the Mustard Procedure for Transposition of the Great Arteries. ( 31045915 )
2019
25
Functional outcomes in children with anatomically repaired transposition of the great arteries with regard to congenital ventricular septal defect and coronary pattern. ( 31079070 )
2019
26
Aorto-Right Ventricular Tunnel in Transposition of the Great Arteries. ( 29515986 )
2018
27
Valve-sparing aortic root replacement after double-switch operation for corrected transposition of the great arteries in a patient with ulcerative colitis. ( 29510935 )
2018
28
Coronary sinus ostial atresia with persistent left superior caval vein in a patient with congenitally corrected transposition of the great arteries. ( 29233231 )
2018
29
Contemporary management and outcomes in congenitally corrected transposition of the great arteries. ( 29326110 )
2018
30
Catheter ablation of manifest posteroseptal accessory pathway associated with coronary sinus diverticula in a child with congenitally corrected transposition of the great arteries. ( 29424737 )
2018
31
Right ventricular dysfunction in congenitally corrected transposition of the great arteries and risk of ventricular tachyarrhythmia and sudden death. ( 29463466 )
2018
32
Rhythm disturbances and treatment strategies in children with congenitally corrected transposition of the great arteries. ( 29476598 )
2018
33
Outcomes of the anatomical repair in patients with congenitally corrected transposition of the great arteries: lessons learned in a high-volume centre. ( 29566142 )
2018
34
Long-Term Outcomes of Tricuspid Valve Surgery in Patients With Congenitally Corrected Transposition of the Great Arteries. ( 29874165 )
2018
35
Late diagnosis of a congenitally corrected transposition of the great arteries discovered at pacemaker implantation in a patient previously diagnosed with dextrocardia and situs solitus. ( 29881577 )
2018
36
Congenitally Corrected Transposition of the Great Arteries in a Septuagenarian from the Developing Country of Pakistan. ( 30087813 )
2018
37
Implantation techniques and outcomes after cardiac resynchronization therapy for congenitally corrected transposition of the great arteries. ( 30125719 )
2018
38
A Rare Combination of Congenitally Corrected Transposition of the Great Arteries with Pulmonary Artery Aneurysm. ( 30370391 )
2018
39
Senning Procedure for Transposition of the Great Arteries in a Patient with Situs Inversus Totalis and Dextrocardia. ( 30173681 )
2018
40
A large posterior encephalocele associated with severe ventriculomegaly, cerebellar atrophy and transposition of the great arteries. ( 30105815 )
2018
41
Bartonella endocarditis with glomerulonephritis in a patient with complete transposition of the great arteries. ( 29686571 )
2018
42
Transposition of the great arteries: A laterality defect in the group of heterotaxy syndromes or an outflow tract malformation? ( 30271012 )
2018
43
Perioperative Cerebral Oxygenation Metabolism in Neonates with Hypoplastic Left Heart Syndrome or Transposition of the Great Arteries. ( 30167749 )
2018
44
Relationship Between Cavum Septi Pellucidi Measurements and Fetal Hypoplastic Left Heart Syndrome or Dextro-Transposition of the Great Arteries. ( 29280178 )
2018
45
Acute Pulmonary Edema in a Pregnant Patient with Undiagnosed Levo-Transposition of the Great Arteries. ( 30518743 )
2018
46
The effect of the introduction of the three-vessel view on the detection rate of transposition of the great arteries and tetralogy of Fallot. ( 30132937 )
2018
47
Afterload dependence of right ventricular myocardial deformation: A comparison between tetralogy of Fallot and atrially corrected transposition of the great arteries in adult patients. ( 30261015 )
2018
48
Association of Habitual Activity and Body Mass Index in Survivors of Congenital Heart Surgery: A Study of Children and Adolescents With Tetralogy of Fallot, Transposition of the Great Arteries, and Fontan Palliation. ( 29544424 )
2018
49
Effects of eplerenone on markers of myocardial fibrosis, 6-minute walk distance, and quality of life in adults with tetralogy of Fallot and complete transposition of the great arteries. ( 29686545 )
2018
50
Perinatal and early postnatal outcomes for fetuses with prenatally diagnosed d-transposition of the great arteries: a prospective cohort study assessing the effect of standardised prenatal consultation. ( 28784195 )
2018

Variations for Transposition of the Great Arteries

ClinVar genetic disease variations for Transposition of the Great Arteries:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;t(2;14)(p22;q24.3)dn Translocation Likely pathogenic

Expression for Transposition of the Great Arteries

Search GEO for disease gene expression data for Transposition of the Great Arteries.

Pathways for Transposition of the Great Arteries

GO Terms for Transposition of the Great Arteries

Biological processes related to Transposition of the Great Arteries according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.43 GATA5 NKX2-5 ZIC3
2 BMP signaling pathway GO:0030509 9.16 GDF1 NKX2-5
3 cell development GO:0048468 8.65 GDF1
4 heart looping GO:0001947 8.62 NKX2-5 ZIC3

Molecular functions related to Transposition of the Great Arteries according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.33 GATA5 NKX2-5 ZIC3
2 sequence-specific DNA binding GO:0043565 9.13 GATA5 NKX2-5 ZIC3
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 8.8 GATA5 NKX2-5 ZIC3

Sources for Transposition of the Great Arteries

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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