MCID: CNG134
MIFTS: 38

Congenitally Corrected Transposition of the Great Arteries

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Congenitally Corrected Transposition of the Great Arteries

MalaCards integrated aliases for Congenitally Corrected Transposition of the Great Arteries:

Name: Congenitally Corrected Transposition of the Great Arteries 20 58 36 6
Congenitally Corrected Transposition of the Great Vessels 20 58
Discordant Ventriculoarterial and Atrioventricular Connections 58
Transposition of the Great Arteries, Congenitally Corrected 20
Transposition of the Great Vessels, Congenitally Corrected 20
Ventriculoarterial and Atrioventricular Discordance 58
Levo-Transposition of the Great Arteries 58
L-Transposition of the Great Arteries 58
Ventricular Inversion 58
Double Discordance 58

Characteristics:

Orphanet epidemiological data:

58
congenitally corrected transposition of the great arteries
Inheritance: Not applicable; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


Summaries for Congenitally Corrected Transposition of the Great Arteries

KEGG : 36 Congenitally corrected transposition of the great arteries is a rare cardiac defect characterized by characterised by the combination of atrioventricular (AV) discordance and ventriculo-arterial (VA) discordance. The morphologic left ventricle and mitral valve supply the pulmonary circulation and the morphologic right ventricle and tricuspid valve supply the systemic circulation. The anatomy is described as congenitally 'corrected' because the flow of blood is normal with the deoxygenated systemic venous blood being pumped to the lungs and the well oxygenated pulmonary venous blood being pumped to the body. More than 90% of patients have additional anatomical abnormalities. The most frequent are ventricular septal defects, left ventricular outflow tract obstruction, and abnormalities of the tricuspid valve.

MalaCards based summary : Congenitally Corrected Transposition of the Great Arteries, also known as congenitally corrected transposition of the great vessels, is related to dextro-looped transposition of the great arteries and heart septal defect. An important gene associated with Congenitally Corrected Transposition of the Great Arteries is NODAL (Nodal Growth Differentiation Factor), and among its related pathways/superpathways are cGMP-PKG signaling pathway and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include heart, pituitary and kidney, and related phenotypes are abnormal left ventricular outflow tract morphology and discordant atrioventricular connection

GARD : 20 Congenitally corrected transposition of the great arteries is a rare heart defect that occurs when the ventricles and attached valves are switched. As a result, the aorta and the pulmonary artery are connected to the wrong lower heart chambers. Click here to visit MayoClinic.com and view an image of this heart defect. While the oxygen-poor blood still flows to the lungs, and oxygen-rich blood still flows out to nourish the body, other heart problems (such as septal defects, pulmonary stenosis, tricuspid regurgitation, and heart block ) are often associated with this defect and require treatment.

Wikipedia : 73 Levo-Transposition of the great arteries is an acyanotic congenital heart defect in which the primary... more...

Related Diseases for Congenitally Corrected Transposition of the Great Arteries

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

(show top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 dextro-looped transposition of the great arteries 32.0 NPPB NODAL
2 heart septal defect 31.7 TNNT2 NODAL
3 ventricular septal defect 31.4 NPPB NODAL
4 congestive heart failure 30.9 TNNT2 NPPB
5 mitral valve insufficiency 30.8 TNNT2 NPPB
6 tricuspid valve disease 30.6 TNNT2 NPPB
7 cardiac arrest 30.5 TNNT2 NPPB
8 left bundle branch hemiblock 30.4 TNNT2 NPPB
9 ebstein anomaly 30.3 TNNT2 NODAL
10 atrial heart septal defect 30.3 TNNT2 NPPB NODAL
11 pericarditis 30.2 TNNT2 NPPB
12 pulmonary edema 30.2 TNNT2 NPPB
13 acute myocardial infarction 30.1 TNNT2 NPPB
14 aortic valve disease 2 30.1 TNNT2 NPPB
15 patent foramen ovale 30.1 TNNT2 NPPB
16 patent ductus arteriosus 1 30.1 NPPB NODAL
17 heart disease 29.8 TNNT2 NPPB NODAL
18 wolff-parkinson-white syndrome 29.7 TNNT2 NPPB NODAL
19 tetralogy of fallot 29.7 TNNT2 NPPB NODAL
20 double discordia 11.6
21 tricuspid valve insufficiency 11.1
22 atrioventricular block 11.0
23 dextrocardia 10.9
24 situs inversus 10.9
25 dextrocardia with situs inversus 10.8
26 single ventricular heart 10.8
27 pulmonic stenosis 10.7
28 cyanosis, transient neonatal 10.7
29 aortic valve insufficiency 10.7
30 pulmonary valve stenosis 10.7
31 myocardial infarction 10.6
32 mesocardia 10.6
33 coarctation of aorta 10.5
34 sinoatrial node disease 10.5
35 sick sinus syndrome 10.5
36 double outlet right ventricle 10.5
37 subpulmonary stenosis 10.5
38 progressive familial heart block, type ia 10.4
39 pulmonary hypertension, primary, 1 10.4
40 heart block, congenital 10.4
41 pulmonary hypertension 10.4
42 ischemia 10.4
43 cor triatriatum 10.4
44 aneurysm 10.4
45 syncope 10.4
46 unclassified cardiomyopathy 10.4
47 arteries, anomalies of 10.3
48 cardiac conduction defect 10.3
49 hydrops fetalis, nonimmune 10.3
50 ventricular fibrillation, paroxysmal familial, 1 10.3

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



Diseases related to Congenitally Corrected Transposition of the Great Arteries

Symptoms & Phenotypes for Congenitally Corrected Transposition of the Great Arteries

Human phenotypes related to Congenitally Corrected Transposition of the Great Arteries:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal left ventricular outflow tract morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0011103
2 discordant atrioventricular connection 58 31 hallmark (90%) Very frequent (99-80%) HP:0011553
3 atrial septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001631
4 pulmonic stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0001642
5 heart murmur 58 31 frequent (33%) Frequent (79-30%) HP:0030148
6 bradycardia 58 31 frequent (33%) Frequent (79-30%) HP:0001662
7 atrial situs ambiguous 58 31 frequent (33%) Frequent (79-30%) HP:0011539
8 ambiguous atrioventricular connection 58 31 frequent (33%) Frequent (79-30%) HP:0011552
9 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
10 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
11 third degree atrioventricular block 58 31 occasional (7.5%) Occasional (29-5%) HP:0001709
12 easy fatigability 58 31 occasional (7.5%) Occasional (29-5%) HP:0003388
13 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
14 situs inversus totalis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001696
15 ebstein anomaly of the tricuspid valve 58 31 occasional (7.5%) Occasional (29-5%) HP:0010316
16 cyanosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000961
17 tricuspid regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005180
18 aortic regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001659
19 first degree atrioventricular block 58 31 occasional (7.5%) Occasional (29-5%) HP:0011705
20 pulmonary artery atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004935
21 sick sinus syndrome 58 31 occasional (7.5%) Occasional (29-5%) HP:0011704
22 wolff-parkinson-white syndrome 58 31 occasional (7.5%) Occasional (29-5%) HP:0001716
23 perimembranous ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0011682
24 food intolerance 58 31 occasional (7.5%) Occasional (29-5%) HP:0012537
25 double outlet left ventricle 58 31 occasional (7.5%) Occasional (29-5%) HP:0011581
26 supraventricular tachycardia with an accessory connection mediated pathway 58 31 occasional (7.5%) Occasional (29-5%) HP:0011688
27 single ventricle 58 31 occasional (7.5%) Occasional (29-5%) HP:0001750
28 global systolic dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0005185
29 premature atrial contractions 58 31 occasional (7.5%) Occasional (29-5%) HP:0006699
30 atrial situs inversus 58 31 occasional (7.5%) Occasional (29-5%) HP:0011538
31 double aortic arch 58 31 occasional (7.5%) Occasional (29-5%) HP:0011590
32 gerbode ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0011621
33 right ventricular cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0011663
34 bilateral superior vena cava with bridging vein 58 31 occasional (7.5%) Occasional (29-5%) HP:0011667
35 mobitz i atrioventricular block 58 31 occasional (7.5%) Occasional (29-5%) HP:0011707
36 abnormal aortic valve cusp morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0031567
37 ventricular tachycardia 58 31 very rare (1%) Very rare (<4-1%) HP:0004756
38 atrial flutter 58 31 very rare (1%) Very rare (<4-1%) HP:0004749
39 mesocardia 58 31 very rare (1%) Very rare (<4-1%) HP:0011599
40 arrhythmia 58 Occasional (29-5%)
41 ventricular septal defect 58 Very frequent (99-80%)
42 abnormal tricuspid valve morphology 58 Very frequent (99-80%)
43 dextrocardia 58 Occasional (29-5%)
44 heart block 58 Occasional (29-5%)
45 abnormal heart morphology 58 Very frequent (99-80%)
46 abnormal atrioventricular conduction 58 Frequent (79-30%)
47 cardiac conduction abnormality 58 Frequent (79-30%)
48 supraventricular tachycardia 58 Occasional (29-5%)
49 abnormal atrioventricular valve morphology 58 Very frequent (99-80%)

Drugs & Therapeutics for Congenitally Corrected Transposition of the Great Arteries

Search Clinical Trials , NIH Clinical Center for Congenitally Corrected Transposition of the Great Arteries

Genetic Tests for Congenitally Corrected Transposition of the Great Arteries

Anatomical Context for Congenitally Corrected Transposition of the Great Arteries

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

40
Heart, Pituitary, Kidney, Atrioventricular Node

Publications for Congenitally Corrected Transposition of the Great Arteries

Articles related to Congenitally Corrected Transposition of the Great Arteries:

(show top 50) (show all 575)
# Title Authors PMID Year
1
Pregnancy in a woman with congenitally corrected transposition of the great arteries. 61
33795247 2021
2
Biventricular Conversion in Unseptatable Hearts: "Ventricular Switch". 61
32858218 2021
3
Congenitally Malformed Hearts: Aspects of Teaching and Research Involving Medical Students. 61
33800587 2021
4
Left bundle branch area pacing in congenitally corrected transposition of great arteries - The obvious choice? 61
33794387 2021
5
Outcomes of treatment pathways in 240 patients with congenitally corrected transposition of great arteries. 61
33436290 2021
6
Twin atrioventricular nodes in congenitally corrected transposition of the great arteries: who is the ringleader of the atrioventricular nodal re-entrant tachycardia? 61
32830236 2021
7
Early Experience With Pulmonary Root Translocation in Transposition of the Great Arteries With Left Ventricular Outflow Tract Obstruction. 61
33684000 2021
8
Percutaneous pulmonary artery debanding. 61
33279375 2021
9
Transcatheter Valve Repair in Congenitally Corrected Transposition of the Great Arteries. 61
33528360 2021
10
Continuous-Flow Left Ventricular Assist Device Therapy in Adults with Transposition of the Great Vessels. 61
30101823 2021
11
Validation and Feasibility of Echocardiographic Assessment of Systemic Right Ventricular Function: Serial Correlation With MRI. 61
33796574 2021
12
Congenitally corrected transposition of the great arteries. 61
32818611 2021
13
Heart-lung transplant in congenitally corrected transposition of the great arteries and dextrocardia patient. 61
33633862 2021
14
Long-term outcomes of arrhythmia and distinct electrophysiological features in congenitally corrected transposition of the great arteries in an Asian cohort. 61
33098810 2021
15
[Tricuspid Valve Replacement Preserving the Leaflets in a Congenitally Corrected Transposition of the Great Arteries;Report of a Case]. 61
33271583 2020
16
Impact of electrophysiological features acquired after anatomical repair of congenital corrected transposition of the great arteries on late mortality and ventricular dysfunction. 61
33313849 2020
17
Congenitally Corrected Transposition of the Great Arteries at Age 88 Years. 61
33305239 2020
18
The fate of congenitally corrected transposition of the great arteries unoperated before adulthood. 61
33188752 2020
19
Prenatal diagnosis, associated findings and postnatal outcome in fetuses with congenitally corrected transposition of the great arteries. 61
33219483 2020
20
Cardiac resynchronization therapy for the failing systemic right ventricle: A systematic review. 61
32645324 2020
21
Senning With Aortic Translocation and Anatomic Repair for Congenitally Corrected Transposition. 61
33045205 2020
22
Successful Catheter Ablation of Two Macro-reentrant Atrial Tachycardias in a Patient with Congenitally Corrected Transposition of the Great Arteries: A Case Report. 61
33123416 2020
23
Left Ventricular Assist Device Implantation via Dual Left Thoracotomy in an Adult Patient with Congenitally Corrected Transposition of the Great Arteries. 61
33020348 2020
24
The impact of pulmonary artery banding and cardiac resynchronization therapy for the adult patient with congenitally corrected transposition of the great arteries. 61
31286415 2020
25
Pulmonary root translocation and Senning procedure for congenitally corrected transposition of great arteries with pulmonary stenosis: a case report. 61
33061170 2020
26
Modification of the Senning procedure in the double-switch operation: The triangular double-door technique. 61
32579767 2020
27
Association between reduced heart rate variability components and supraventricular tachyarrhythmias in patients with a systemic right ventricle. 61
32623323 2020
28
Galectin-3 plasma levels in adult congenital heart disease and the pressure overloaded right ventricle: reason matters. 61
33021383 2020
29
Hemodynamic impact of MitraClip procedure for systemic tricuspid regurgitation in congenitally-corrected transposition of great arteries: A case report. 61
32883583 2020
30
Atrial tachycardia eliminated at the ventricular side in patients with congenitally corrected transposition of the great arteries: Electrophysiological findings and anatomical concerns. 61
32201269 2020
31
Systemic right ventricle in elderly patients with congenitally corrected transposition of the great arteries: Clinical profile, cardiac biomarkers, and echocardiographic parameters. 61
32749250 2020
32
Congenitally corrected transposition of the great arteries, coronary anomaly and transplant. 61
32107147 2020
33
The assessment of patients with situs inversus and corrected transposition of the great arteries. 61
32682571 2020
34
Congenitally corrected transposition of the great arteries. Does situs arrangement influence the outcome? 61
32684414 2020
35
An unusual case of redo tricuspid valve replacement and repair of a previously unidentified anomalous pulmonary venous return in a patient with congenitally corrected transposition of the great arteries. 61
32695367 2020
36
Mechanisms for heart failure in systemic right ventricle. 61
31853794 2020
37
Left-sided congenitally unguarded tricuspid valve with congenitally corrected transposition of the great arteries: A rare diagnosis confirmed by three-dimensional echocardiography. 61
32652546 2020
38
Pulmonary Artery Banding for Congenitally Corrected Transposition of the Great Arteries With Hydrops Fetalis: A Case Report. 61
31018764 2020
39
Congenitally Corrected Transposition of Great Arteries with Dextrocardia, Patent Ductus Arteriosus, Atrial Septal Defects and Ventricular Septal Defects in a 15-Year-Old Marfanoid Habitus Patient: A Case Study. 61
32765983 2020
40
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease. 61
32037394 2020
41
[Asymptomatic congenitally corrected transposition of the great arteries. Report of two cases]. 61
33480388 2020
42
A rare case report: tricuspid valve prolapse due to spontaneous chordae rupture in a congenitally corrected transposition of the great arteries patient. 61
32600335 2020
43
Incidental congenitally corrected transposition of the great arteries (ccTGA) in an adult with suspected coronary artery disease: review on radiological features and pathophysiology. 61
32327461 2020
44
A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis. 61
31570783 2020
45
IgA Vasculitis Triggered by Infective Endocarditis of Pulmonary Artery with Congenitally Corrected Transposition of the Great Arteries. 61
32173704 2020
46
Permanent conduction system pacing for congenitally corrected transposition of the great arteries: A Pediatric and Congenital Electrophysiology Society (PACES)/International Society for Adult Congenital Heart Disease (ISACHD) Collaborative Study. 61
32243875 2020
47
Congenitally corrected transposition of the great arteries. 61
32274202 2020
48
Congenitally corrected transposition of the great arteries in a 69-year-old woman. 61
31302072 2020
49
Congenitally corrected transposition of the great arteries: is it really a transposition? An anatomical study of the right ventricular septal surface. 61
31657020 2020
50
Permanent Conduction System Pacing for Congenitally Corrected Transposition of the Great Arteries. 61
32244058 2020

Variations for Congenitally Corrected Transposition of the Great Arteries

ClinVar genetic disease variations for Congenitally Corrected Transposition of the Great Arteries:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NODAL NM_018055.5(NODAL):c.555dup (p.Thr186fs) Duplication Uncertain significance 690399 rs772802856 GRCh37: 10:72195377-72195378
GRCh38: 10:70435621-70435622

Expression for Congenitally Corrected Transposition of the Great Arteries

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

Pathways for Congenitally Corrected Transposition of the Great Arteries

Pathways related to Congenitally Corrected Transposition of the Great Arteries according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.66 TNNT2 NPPB
2 11.08 TNNT2 NODAL
3 10.35 TNNT2 NODAL

GO Terms for Congenitally Corrected Transposition of the Great Arteries

Sources for Congenitally Corrected Transposition of the Great Arteries

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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