MCID: TRN044
MIFTS: 40

Transposition of the Great Arteries

Categories: Rare diseases

Aliases & Classifications for Transposition of the Great Arteries

MalaCards integrated aliases for Transposition of the Great Arteries:

Name: Transposition of the Great Arteries 53 29 6
Transposition of the Great Arteries, Dextro-Looped 1 73
Dextro-Looped Transposition of the Great Arteries 53
Dtga 53

Classifications:



External Ids:

UMLS 73 C1837341

Summaries for Transposition of the Great Arteries

NIH Rare Diseases : 53 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 conotruncal heart malformations. An important gene associated with Transposition of the Great Arteries is MED13L (Mediator Complex Subunit 13 Like). The drugs Spironolactone and Mechlorethamine have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and lung, and related phenotypes are cardiovascular system and normal

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 107)
# Related Disease Score Top Affiliating Genes
1 dextro-looped transposition of the great arteries 32.7 GDF1 MED13L ZIC3
2 conotruncal heart malformations 30.4 GDF1 NKX2-5 ZFPM2
3 double outlet right ventricle 30.0 GDF1 NKX2-5 ZFPM2 ZIC3
4 ventricular septal defect 29.6 GDF1 NKX2-5 ZFPM2
5 patent foramen ovale 29.4 MED13L NKX2-5
6 atrioventricular septal defect 29.2 GDF1 NKX2-5
7 atrial heart septal defect 29.1 GDF1 NKX2-5
8 tricuspid atresia 29.1 GDF1 NKX2-5 ZFPM2
9 tetralogy of fallot 28.9 GDF1 NKX2-5 ZFPM2
10 tricuspid valve disease 28.1 GDF1 NKX2-5 ZIC3
11 heart disease 27.7 GDF1 NKX2-5 ZIC3
12 congenitally corrected transposition of the great arteries 12.8
13 transposition of the great arteries, dextro-looped 1 12.7
14 dextro-looped transposition of the great arteries 3 12.6
15 congenitally uncorrected transposition of the great arteries with coarctation 12.3
16 isolated congenitally uncorrected transposition of the great arteries 12.3
17 congenitally uncorrected transposition of the great arteries with cardiac malformation 12.3
18 congenital heart defects, multiple types, 6 12.1
19 double discordia 11.7
20 mental retardation and distinctive facial features with or without cardiac defects 11.3
21 heterotaxy, visceral, 1, x-linked 11.1
22 heterotaxy, visceral, 6, autosomal 11.1
23 congenital heart defects, multiple types, 4 11.1
24 dextrocardia 10.5
25 situs inversus 10.4
26 pulmonary hypertension 10.4
27 dextrocardia with situs inversus 10.3
28 aging 10.3
29 aortopulmonary window 10.3
30 pulmonary hypertension, primary, 1 10.2
31 aortic coarctation 10.2
32 aneurysm 10.2
33 hypoplastic left heart syndrome 10.2
34 subpulmonary stenosis 10.2
35 cor triatriatum 10.2
36 hypoplastic left heart syndrome 1 10.2
37 right aortic arch 10.1
38 myocardial infarction 10.1
39 atrioventricular block 10.1
40 brain injury 10.1
41 coronary artery anomaly 10.1
42 cardiac conduction defect 10.1
43 diaphragmatic hernia, congenital 10.1
44 univentricular heart 10.1
45 cerebritis 10.1
46 criss-cross heart 10.1
47 pulmonary vein stenosis 10.0
48 hydrocephalus 10.0
49 tuberous sclerosis 10.0
50 accessory mitral valve tissue 10.0

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.46 GDF1 NKX2-5 ZFPM2 ZIC3
2 normal MP:0002873 9.26 GDF1 NKX2-5 ZFPM2 ZIC3
3 respiratory system MP:0005388 8.92 GDF1 NKX2-5 ZFPM2 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 all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
2
Mechlorethamine Approved, Investigational Phase 4 51-75-2 4033
3
Eplerenone Approved Phase 4 107724-20-9 150310 443872
4 diuretics Phase 4
5 Mineralocorticoid Receptor Antagonists Phase 4
6 Mineralocorticoids Phase 4
7 Natriuretic Agents Phase 4
8 Hormone Antagonists Phase 4
9 Hormones Phase 4
10 Diuretics, Potassium Sparing Phase 4
11 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
12
Tadalafil Approved, Investigational Phase 3 171596-29-5 110635
13 Vasodilator Agents Phase 3,Phase 2
14 Phosphodiesterase Inhibitors Phase 3,Phase 2
15 Phosphodiesterase 5 Inhibitors Phase 3
16
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
17 Simendan Investigational Phase 2 131741-08-7
18 Respiratory System Agents Phase 2
19 N-monoacetylcystine Phase 2
20 Dextrans Phase 2
21 Anti-Arrhythmia Agents Phase 2
22 Pharmaceutical Solutions Phase 2
23 Plasma Substitutes Phase 2
24 Anticoagulants Phase 2
25 Expectorants Phase 2
26 Antidotes Phase 2
27 Anti-Infective Agents Phase 2
28 Antioxidants Phase 2
29 Protective Agents Phase 2
30 Antiviral Agents Phase 2
31 Blood Substitutes Phase 2
32 Epoetin alfa Phase 1, Phase 2 113427-24-0
33 Hematinics Phase 1, Phase 2
34
Dexmedetomidine Approved, Vet_approved Phase 1 113775-47-6 68602 5311068
35 Analgesics Phase 1
36 Central Nervous System Depressants Phase 1
37 Adrenergic Agents Phase 1
38 Adrenergic Agonists Phase 1
39 Adrenergic alpha-2 Receptor Agonists Phase 1
40 Adrenergic alpha-Agonists Phase 1
41 Neurotransmitter Agents Phase 1
42 Analgesics, Non-Narcotic Phase 1
43 Peripheral Nervous System Agents Phase 1
44 Hypnotics and Sedatives Phase 1
45
Dobutamine Approved Not Applicable 34368-04-2 36811
46 Adrenergic Antagonists
47 Adrenergic beta-Antagonists

Interventional clinical trials:

(show all 39)
# 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 Effect of Phosphodiesterase-5 Inhibition With Tadalafil on SystEmic Right VEntricular Size and Function Recruiting NCT03049540 Phase 3 Tadalafil 20 MG;Placebo 20 MG
6 Levosimendan Administration in Neonates With Transposition of the Great Arteries Completed NCT01120106 Phase 2 levosimendan;placebo
7 N-Acetylcysteine in Neonatal Congenital Heart Surgery (INACT Study) Completed NCT00374088 Phase 2 N-acetylcysteine;Placebo
8 Hypertonic Saline Dextran in Pediatric Cardiac Surgery Completed NCT00199771 Phase 2 7.5% NaCl in 6% dextran 70 solution
9 Erythropoetin Neuroprotection for Neonatal Cardiac Surgery Active, not recruiting NCT00513240 Phase 1, Phase 2 Erythropoetin;Normal saline
10 Autologous Umbilical Cord Blood Treatment of Neonate With CHD Not yet recruiting NCT03558269 Phase 1, Phase 2
11 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Completed NCT01915277 Phase 1 Dexmedetomidine
12 Cardiovascular MRI and Cardiopulmonary Exercise Capacity After Neonatal ASO) in Young Adults Unknown status NCT02415491 Not Applicable
13 Comparative Assessment of Coronary MR Angiography Vs Coronary Multislice CT After Coronary Artery Reimplantation in Children and Young Adults. Unknown status NCT02542345 Not Applicable
14 T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart Disease Unknown status NCT02350829 Not Applicable
15 MRI Study After Arterial Switch Operation in Patients With Transposition of the Great Arteries Completed NCT01916499
16 Effects of Beta-adrenergic in Adults w/Transposition of Great Arteries on Systemic Ventricular Function Completed NCT00313352
17 Physical Training in Transposition of the Great Arteries Completed NCT00837603 Not Applicable
18 CT Coronary Angiography After Arterial Switch Operation Completed NCT01153776 Not Applicable
19 Right Ventricular Hypertrophy After Atrial Switch and Cardiovascular Magnetic Resonance (CMR) Findings Completed NCT01430897
20 Myocardial Contrast Echocardiography in Congenital Heart Disease Completed NCT00412685
21 Assessment of Left and Right Ventricular Function in Patients With Ebstein Anomaly With Different Echocardiographic Methods Completed NCT01907971
22 Quality of Life in Young Adults With Congenital Heart Disease Completed NCT02463292
23 Prenatal Effects of Congenital Heart Disease (CHD) on Neurodevelopmental Outcome Completed NCT00713635
24 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
25 Genes Causing Ebstein's Anomaly Completed NCT00497705
26 A Randomized Controlled Trial:Treatments on Infundibular Ventricular Septal Defect Completed NCT02361008 Not Applicable
27 Fibrosis, Valvular and Ventricular Function in Patients With TGA Recruiting NCT02588989
28 Genetic Determinants of Congenital Heart Disease Outcomes Recruiting NCT01656941
29 Haemodynamics and Function of the Atria in Congenital Heart Disease by Cardiovascular Magnetic Resonance Recruiting NCT02161471
30 The Boston Circulatory Arrest Study: Antecedents and Correlates of Well-Being in Adults With Congenital Heart Disease Recruiting NCT03073122
31 Oxygen Consumption-based Assessments of Hemodynamics in Neonates Following Congenital Heart Surgery (Oxy-CAHN Study) Recruiting NCT02184169 Not Applicable
32 A Pilot Study- Monitoring Cerebral Blood Flow in Neonates With Congenital Heart Defects Recruiting NCT03512613
33 Assessing Neurodevelopment in Congenital Heart Disease. Recruiting NCT02996630 Not Applicable
34 Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility Study Recruiting NCT03022708 Not Applicable
35 COMPASSION S3 - Evaluation of the SAPIEN 3 Transcatheter Heart Valve in Patients With Pulmonary Valve Dysfunction Recruiting NCT02744677 Not Applicable
36 Surgical Planning for Reconstruction of Complex Heart Defects Recruiting NCT00972608
37 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
38 Late Function After Surgery for Transposition of the Great Arteries Enrolling by invitation NCT03078413
39 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 Not yet recruiting NCT03469843

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 29

Anatomical Context for Transposition of the Great Arteries

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

41
Heart, Skin, Lung, Brain, Testes, Liver, Pituitary

Publications for Transposition of the Great Arteries

Articles related to Transposition of the Great Arteries:

(show top 50) (show all 881)
# Title Authors Year
1
Effect of prenatal diagnosis on hospital costs in complete transposition of the great arteries. ( 29675828 )
2018
2
Long-Term Outcomes of Tricuspid Valve Surgery in Patients With Congenitally Corrected Transposition of the Great Arteries. ( 29874165 )
2018
3
Left ventricular remodelling in long-term survivors after the arterial switch operation for transposition of the great arteries. ( 29800129 )
2018
4
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
5
Role of myocardial collagen degradation and fibrosis in right ventricle dysfunction in transposition of the great arteries after atrial switch. ( 29433967 )
2018
6
Aorto-Right Ventricular Tunnel in Transposition of the Great Arteries. ( 29515986 )
2018
7
Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries. ( 29399970 )
2018
8
Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries. ( 29444099 )
2018
9
Rhythm disturbances and treatment strategies in children with congenitally corrected transposition of the great arteries. ( 29476598 )
2018
10
Attenuation of Pulse Pressure Amplification inA Patients with Complete Transposition of the Great Arteries After an Arterial Switch Operation in Children. ( 29923135 )
2018
11
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
12
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
13
Two Brothers With Dextro-Transposition of the Great Arteries. ( 29848184 )
2018
14
Aortopulmonary collaterals in neonates with d-transposition of the great arteries - Clinical significance early after arterial switch operation. ( 29444748 )
2018
15
The Use of Transesophageal Echocardiography in the Management of Baffle Leaks in a Patient With Transposition of the Great Arteries. ( 29851692 )
2018
16
Two-stage arterial switch for late-presenting transposition of the great arteries. ( 29912349 )
2018
17
Coronary sinus ostial atresia with persistent left superior caval vein in a patient with congenitally corrected transposition of the great arteries. ( 29233231 )
2018
18
Outcomes of the anatomical repair in patients with congenitally corrected transposition of the great arteries: lessons learned in a high-volume centre. ( 29566142 )
2018
19
Contemporary management and outcomes in congenitally corrected transposition of the great arteries. ( 29326110 )
2018
20
Right ventricular dysfunction in congenitally corrected transposition of the great arteries and risk of ventricular tachyarrhythmia and sudden death. ( 29463466 )
2018
21
A Rare Case of Coronary Artery Embolism in a Patient with d-Transposition of the Great Arteries with Prior Mustard Repair. ( 29657908 )
2018
22
An Analysis of Left Ventricular Retraining in Patients With Dextro- and Levo-Transposition of the Great Arteries. ( 29274314 )
2018
23
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
24
Left ventricular function and exercise capacity after arterial switch operation for transposition of the great arteries: a systematic review and meta-analysis. ( 29848397 )
2018
25
Primary Arterial Switch Operation for Late Referral of Transposition of the Great Arteries with Intact Ventricular Septum in the Current Era: Do We Still Need a Rapid Two-Stage Operation? ( 29310554 )
2018
26
Case 3 / 2018 - Corrected Transposition of the Great Arteries with Natural Progression to Severe Biventricular Dysfunction and No Associated Defects in a 51-Year Old Man. ( 29898048 )
2018
27
Cerebral oximetry monitoring in the management of severe hypoxaemia associated with transposition of the great arteries with balloon atrial septostomy. ( 29366495 )
2018
28
<i>Bartonella</i> endocarditis with glomerulonephritis in a patient with complete transposition of the great arteries. ( 29686571 )
2018
29
Interpretation and Reporting of Coronary Arteries in Transposition of the Great Arteries: Cross-sectional Imaging Perspective. ( 29927871 )
2018
30
Diffuse fibrosis is common in the left, but not in the right ventricle in patients with transposition of the great arteries late after atrial switch operation. ( 29600485 )
2018
31
Impaired atrioventricular transport in patients with transposition of the great arteries palliated by atrial switch and preserved systolic right ventricular function: A magnetic resonance imaging study. ( 28508510 )
2017
32
Assessment of systemic right ventricular function in adult overweight and obese patients with congenitally corrected transposition of the great arteries. ( 28281729 )
2017
33
Echocardiography-Derived Left Ventricular Outflow Tract Gradient and Left Ventricular Posterior Wall Thickening Are Associated with Outcomes for Anatomic Repair in Congenitally Corrected Transposition of the Great Arteries. ( 28579248 )
2017
34
High prevalence of baffle leaks in adults after atrial switch operations for transposition of the great arteries. ( 28064156 )
2017
35
Bloodless Repair for a 3.6 Kilogram Transposition of the Great Arteries with Jehovah's Witness Faith. ( 29302123 )
2017
36
Septic coronary embolization in a patient with congenitally corrected transposition of the great arteries. ( 28542031 )
2017
37
Suitability of cardiac resynchronisation therapy in patients with Fontan circulation and congenitally corrected transposition of the great arteries. ( 28886927 )
2017
38
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 )
2017
39
Successful pregnancies after transvenous cardiac resynchronization therapy in a woman with congenitally corrected transposition of the great arteries. ( 29622980 )
2017
40
Relationship Between Cavum Septi Pellucidi Measurements and Fetal Hypoplastic Left Heart Syndrome or Dextro-Transposition of the Great Arteries. ( 29280178 )
2017
41
Double trouble or singular success: What can we expect from anatomic correction of congenitally corrected transposition of the great arteries? ( 28416336 )
2017
42
Cardiac Conduction System in Congenitally Corrected Transposition of the Great Arteries and Its Clinical Relevance. ( 29269355 )
2017
43
A great imitator in adult cardiology practice: congenitally corrected transposition of the great arteries. ( 28225206 )
2017
44
Promising Outcome of Anatomic Correction of Corrected Transposition of the Great Arteries. ( 28648534 )
2017
45
Anesthetic Management During Atrial Septostomy in a Conjoined Thoraco-Omphalopagus Twin With Tricuspid Atresia and d-Transposition of the Great Arteries Before Separation: A Case Report. ( 29293486 )
2017
46
Percutaneous Fetal Atrial Balloon Septoplasty for Simple Transposition of the Great Arteries With an Intact Atrial Septum. ( 29398177 )
2017
47
Transposition of the Great Arteries in the Developing World: Surgery and Outcomes. ( 28057249 )
2017
48
Down syndrome and transposition of the great arteries. ( 28857728 )
2017
49
Detection of Pulmonary Venous Channel Stenosis in a Newly Created Left Atrium After the Senning Procedure in a Child Undergoing a Double Switch Operation for L-Transposition of the Great Arteries. ( 28927693 )
2017
50
Clinical Outcomes after Anatomic Repair Including Hemi-Mustard Operation in Patients with Congenitally Corrected Transposition of the Great Arteries. ( 28382075 )
2017

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.8 MED13L NKX2-5 ZFPM2 ZIC3
2 transcription by RNA polymerase II GO:0006366 9.65 NKX2-5 ZFPM2 ZIC3
3 positive regulation of transcription, DNA-templated GO:0045893 9.63 NKX2-5 ZFPM2 ZIC3
4 BMP signaling pathway GO:0030509 9.43 GDF1 NKX2-5
5 lung development GO:0030324 9.4 ZFPM2 ZIC3
6 vasculogenesis GO:0001570 9.37 NKX2-5 ZFPM2
7 heart looping GO:0001947 9.32 NKX2-5 ZIC3
8 ventricular septum morphogenesis GO:0060412 9.26 NKX2-5 ZFPM2
9 outflow tract septum morphogenesis GO:0003148 9.16 NKX2-5 ZFPM2
10 cardiac muscle tissue development GO:0048738 8.96 NKX2-5 ZFPM2
11 right ventricular cardiac muscle tissue morphogenesis GO:0003221 8.62 NKX2-5 ZFPM2

Sources for Transposition of the Great Arteries

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....