MCID: TRC062
MIFTS: 45

Tricuspid Atresia

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Tricuspid Atresia

MalaCards integrated aliases for Tricuspid Atresia:

Name: Tricuspid Atresia 58 12 77 54 60 38 45 15
Congenital Agenesis of the Tricuspid Valve 54

Characteristics:

Orphanet epidemiological data:

60
tricuspid atresia
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (Belgium),1-9/100000 (France),1-5/10000 (Germany),1-5/10000 (Ireland),1-9/100000 (Italy),1-9/100000 (Netherlands),1-9/100000 (Norway),1-9/100000 (Poland),1-9/100000 (Spain),1-5/10000 (Portugal),1-5/10000 (Switzerland),1-9/100000 (United Kingdom),1-9/100000 (Ukraine); Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0080169
OMIM 58 605067
KEGG 38 H01785
MeSH 45 D018785
MESH via Orphanet 46 D018785
ICD10 via Orphanet 35 Q22.4
UMLS via Orphanet 75 C0243002
Orphanet 60 ORPHA1209
MedGen 43 C0243002

Summaries for Tricuspid Atresia

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1209Disease definitionTricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV, see this term), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV)(see these terms).Visit the Orphanet disease page for more resources.

MalaCards based summary : Tricuspid Atresia, also known as congenital agenesis of the tricuspid valve, is related to ventricular septal defect and conotruncal heart malformations. An important gene associated with Tricuspid Atresia is ZFPM2 (Zinc Finger Protein, FOG Family Member 2), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and Cardiac Progenitor Differentiation. The drugs Sodium Citrate and Bosentan have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and atrioventricular node, and related phenotypes are cardiovascular system and embryo

Disease Ontology : 12 A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth.

Wikipedia : 77 Tricuspid atresia is a form of congenital heart disease whereby there is a complete absence of the... more...

Description from OMIM: 605067

Related Diseases for Tricuspid Atresia

Diseases related to Tricuspid Atresia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 ventricular septal defect 30.3 NKX2-5 TBX5 ZFPM2
2 conotruncal heart malformations 30.3 NKX2-5 ZFPM2
3 atrioventricular block 29.7 NKX2-5 TBX5
4 atrioventricular septal defect 29.3 CRELD1 NKX2-5 TBX5
5 atrial heart septal defect 29.1 CFC1 CRELD1 NKX2-5 TBX5
6 tetralogy of fallot 29.0 CRELD1 HEY2 NKX2-5 TBX5 ZFPM2
7 heart disease 28.5 CFC1 CRELD1 MESP1 NKX2-5 TBX5
8 double outlet right ventricle 28.4 CFC1 CRELD1 MESP1 NKX2-5 ZFPM2
9 transposition of the great arteries 10.4
10 univentricular heart 10.4
11 aortopulmonary window 10.3
12 dextrocardia 10.2
13 atrial septal defect coronary sinus 10.1
14 complete atrioventricular canal 10.1
15 tricuspid valve stenosis 10.1 CRELD1 HEY2
16 tracheoesophageal fistula with or without esophageal atresia 10.0
17 wolff-parkinson-white syndrome 10.0
18 esophageal atresia 10.0
19 protein-losing enteropathy 10.0
20 double outlet left ventricle 10.0
21 tracheoesophageal fistula 10.0
22 pulmonary valve disease 10.0 CRELD1 TBX5
23 mitral valve insufficiency 10.0 CRELD1 TBX5
24 atrial standstill 1 9.9
25 coarctation of aorta 9.9
26 cystic fibrosis 9.9
27 heart block, congenital 9.9
28 hypoplastic left heart syndrome 1 9.9
29 pulmonary atresia with intact ventricular septum 9.9
30 lung agenesis 9.9
31 hemophilia b 9.9
32 myocardial infarction 9.9
33 transposition of the great arteries, dextro-looped 1 9.9
34 chromosome 16p13.3 deletion syndrome, proximal 9.9
35 chromosome 3pter-p25 deletion syndrome 9.9
36 congenital methemoglobinemia 9.9
37 pulmonary hypertension 9.9
38 arteriovenous fistula 9.9
39 hypoplastic left heart syndrome 9.9
40 seckel syndrome 9.9
41 left ventricular noncompaction 9.9
42 thrombosis 9.9
43 methemoglobinemia 9.9
44 pulmonary valve stenosis 9.9
45 situs inversus 9.9
46 muscular dystrophy 9.9
47 hemophilia 9.9
48 heterotaxy 9.9
49 rere-related disorders 9.9
50 congenital mitral stenosis 9.9

Graphical network of the top 20 diseases related to Tricuspid Atresia:



Diseases related to Tricuspid Atresia

Symptoms & Phenotypes for Tricuspid Atresia

Clinical features from OMIM:

605067

MGI Mouse Phenotypes related to Tricuspid Atresia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 CRELD1 HEY2 MESP1 NKX2-5 TBX5 ZFPM2
2 embryo MP:0005380 9.35 CRELD1 HEY2 MESP1 NKX2-5 TBX5
3 muscle MP:0005369 9.02 HEY2 MESP1 NKX2-5 TBX5 ZFPM2

Drugs & Therapeutics for Tricuspid Atresia

Drugs for Tricuspid Atresia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium Citrate Approved, Investigational Phase 2 68-04-2
2
Bosentan Approved, Investigational Phase 2 147536-97-8 104865
3
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
4 Vasodilator Agents Phase 2
5 Sildenafil Citrate Phase 2 171599-83-0
6 Citrate Phase 2
7 Phosphodiesterase 5 Inhibitors Phase 2
8 Phosphodiesterase Inhibitors Phase 2
9 Antihypertensive Agents Phase 2
10 Endothelin Receptor Antagonists Phase 2
11
Dexmedetomidine Approved, Vet_approved Phase 1 113775-47-6 68602 5311068
12 Central Nervous System Depressants Phase 1
13 Peripheral Nervous System Agents Phase 1
14 Adrenergic Agonists Phase 1
15 Adrenergic alpha-2 Receptor Agonists Phase 1
16 Neurotransmitter Agents Phase 1
17 Adrenergic alpha-Agonists Phase 1
18 Adrenergic Agents Phase 1
19 Analgesics Phase 1
20 Analgesics, Non-Narcotic Phase 1
21 Hypnotics and Sedatives Phase 1
22
Vitamin C Approved, Nutraceutical Not Applicable 50-81-7 5785 54670067
23 Protective Agents Not Applicable
24 Micronutrients Not Applicable
25 Trace Elements Not Applicable
26 Vitamins Not Applicable
27 Nutrients Not Applicable
28 Antioxidants Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sildenafil After the Fontan Operation Completed NCT00507819 Phase 2 Sildenafil;Placebo
2 Study of Placebo or Bosentan to Treat Patients With Single Ventricle Physiology. Completed NCT01292551 Phase 2 Bosentan;Placebo
3 Liothyronine in Children With Single Ventricle Congenital Cardiac Malformations Undergoing the Fontan Procedure Completed NCT00004828 Phase 1 liothyronine I 131
4 Understanding Dexmedetomidine In Infants Post-Operative From Cardiac Surgery Completed NCT00573066 Phase 1 Dexmedetomidine
5 Global and Regional Myocardial Strain and Power Output In Patients With Single Ventricles Using Novel MRI Techniques Unknown status NCT01107990
6 Biomarker Study for Heart Failure in Children With Single Ventricle Physiology Completed NCT00571233
7 Impact of Vitamin C on Endothelial Function and Exercise Capacity in Fontan-Palliated Patients Completed NCT00974025 Not Applicable
8 Changes in Cerebral Oxygenation During Laparoscopy in Patients With Single Ventricle Anatomy Withdrawn NCT02614664
9 Myocardial Perfusion and Scarring in Congenital Heart Disease Suspended NCT01639937

Search NIH Clinical Center for Tricuspid Atresia

Cochrane evidence based reviews: tricuspid atresia

Genetic Tests for Tricuspid Atresia

Anatomical Context for Tricuspid Atresia

MalaCards organs/tissues related to Tricuspid Atresia:

42
Heart, Endothelial, Atrioventricular Node

Publications for Tricuspid Atresia

Articles related to Tricuspid Atresia:

(show top 50) (show all 472)
# Title Authors Year
1
A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family. ( 30507091 )
2019
2
Tricuspid atresia with restrictive foramen ovale: A rare combination with implications on fetal growth. ( 30693549 )
2019
3
Atrioventricular reentrant tachycardia in a child with tricuspid atresia: A case report of catheter ablation. ( 30732151 )
2019
4
Respiratory exacerbation in a young adult with cystic fibrosis and tricuspid atresia. ( 29619223 )
2018
5
A persistent giant Eustachian valve: functional tricuspid atresia in a newborn. ( 29361049 )
2018
6
Evaluation of the anatomic and hemodynamic abnormalities in tricuspid atresia before and after surgery using computational fluid dynamics. ( 29480841 )
2018
7
Revisitation of Double Inlet Left Ventricle or Tricuspid Atresia with Transposed Great Arteries. ( 30586578 )
2018
8
Energetic performance analysis of staged palliative surgery in tricuspid atresia using vector flow mapping. ( 29241451 )
2017
9
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
10
Improved long-term outcomes in double-inlet left ventricle and tricuspid atresia with transposed great arteries: systemic outflow tract obstruction present at birth defines long-term outcome. ( 28329058 )
2017
11
Aortopathy in an Adult With Tricuspid Atresia and Left Ventricular Non-Compaction After Fontan Procedure. ( 28381694 )
2017
12
Functional near-tricuspid atresia in a patient with absent pulmonary valve and an intact ventricular septum. ( 28300528 )
2017
13
Living with Tricuspid Atresia: Case Report with Review of Literature. ( 28764825 )
2017
14
Typical atrial flutter with muscular type tricuspid atresia. ( 27226496 )
2016
15
Tricuspid atresia associated with aortopulmonary window: diagnostic and therapeutic dilemmas. ( 27680574 )
2016
16
Absent Pulmonary Valve Syndrome With Tricuspid Atresia, Ventricular Septal Defect, and Aneurysmal Dilated Pulmonary Artery: A Case Report of Successful Fontan Completion. ( 27549733 )
2016
17
Parental Refusal of Surgery in an Infant With Tricuspid Atresia. ( 27940784 )
2016
18
Modified Norwood Procedure for Tricuspid Atresia, Transposition of Great Arteries, and Hypoplastic Right Arch With Complete Vascular Ring. ( 27772616 )
2016
19
Thrombolytics for late superior caval vein thrombus in a patient with tricuspid atresia and single-lung Glenn anastomosis. ( 26194906 )
2016
20
AV nodal ablation in tricuspid atresia; anatomical challenges. ( 27788993 )
2016
21
Tricuspid Atresia IIc With a Vascular Ring: Novel Approach forA Fontan Completion. ( 26897207 )
2016
22
Giant left atrial appendage aneurysm in association with tricuspid atresia. ( 26758408 )
2016
23
Tricuspid Atresia with Non-compaction: An Early Experience with Implications for Surgical Palliation. ( 27942762 )
2016
24
Successful staged Fontan completion for a tricuspid atresia patient with left ventricular non-compaction. ( 26689445 )
2016
25
Isolated Left Subclavian Artery, Complete Atrioventricular Block, and Tricuspid Atresia in a Neonate. ( 28100981 )
2016
26
Improved Exercise Performance in Patients With Tricuspid Atresia After the Fontan-BjAPrk Modification With Pulsatile Systolic PulmonaryA Flow. ( 26680312 )
2016
27
An unusual type of accessory pathway in tricuspid atresia. ( 30546690 )
2016
28
Influence of Morphology and Initial Surgical Strategy on Survival of Infants With Tricuspid Atresia. ( 26233275 )
2015
29
Surgical management of competing pulmonary blood flow affects survival before Fontan/Kreutzer completion in patients with tricuspid atresia type I. ( 26145767 )
2015
30
Absent pulmonary valve, tricuspid atresia, and congenital heart block. ( 25548352 )
2015
31
Determination of a new mutation in MT-ND1 gene of a patient with dextrocardia, ventriculoarterial discordance, and tricuspid atresia. ( 25626582 )
2015
32
Tricuspid Atresia 18 Years Post Glenn: Is Fontan Necessary in All Cases? ( 26426189 )
2015
33
Truncus arteriosus, tricuspid atresia and partial anomalous pulmonary venous drainage: a unique form of univentricular heart. ( 25972595 )
2015
34
Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndrome. ( 26085772 )
2015
35
Successful hybrid management for a patient with tricuspid atresia and innominate vein obstruction. ( 25231417 )
2014
36
A case of Seckel syndrome with tricuspid atresia. ( 25059015 )
2014
37
Tricuspid atresia with truncus arteriosus: successful surgical treatment. ( 25087803 )
2014
38
Integration of cardiac magnetic resonance imaging in pre-procedural planning and electroanatomical mapping for catheter ablation after a Fontan-Bjork correction of tricuspid atresia. ( 24970724 )
2014
39
Successful palliation of a child with left ventricular noncompaction cardiomyopathy and tricuspid atresia to Fontan procedure. ( 25087802 )
2014
40
Congenital coronary arteriopathy and myocardial infarctions occur with tricuspid atresia. ( 22622686 )
2013
41
Tricuspid Atresia Associated with Truncus Arteriosus versus Aortopulmonary Window: Combining Fetal and Postnatal Echocardiography to Make the Diagnosis. ( 24033694 )
2013
42
Tricuspid atresia with aortopulmonary window: challenges in achieving a balanced circulation. ( 23628655 )
2013
43
Simplified approach for ablation of nodal reentrant tachycardia in a patient with tricuspid atresia and extracardiac fontan palliation. ( 23153687 )
2013
44
Combined heart transplantation and thoracic endovascular aortic repair for heart failure secondary to tricuspid atresia palliated with Potts shunt. ( 23989821 )
2013
45
Tricuspid atresia with progressive ductal restriction in a fetus. ( 22729970 )
2013
46
Simplified approach for ablation of nodal reentrant tachycardia in a patient with tricuspid atresia and extracardiac Fontan palliation. ( 24775626 )
2013
47
Percutaneous transluminal pulmonary valvuloplasty in a child with tricuspid atresia, ventricular septal defect, and severe pulmonary valve stenosis: Usefulness of the Femoral Artery Approach. ( 24030841 )
2013
48
eReply. Re: Balancing the pulmonary circulation in tricuspid atresia with an aortopulmonary window. ( 23868969 )
2013
49
Crisscross heart with tricuspid atresia diagnosed in utero. ( 22958430 )
2013
50
Fetal heterotaxy with tricuspid atresia, pulmonary atresia, and isomerism of the right atrial appendages at 22 weeks. ( 24147244 )
2013

Variations for Tricuspid Atresia

Expression for Tricuspid Atresia

Search GEO for disease gene expression data for Tricuspid Atresia.

Pathways for Tricuspid Atresia

Pathways related to Tricuspid Atresia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.78 CFC1 NKX2-5 TBX5
2 10.86 MESP1 NKX2-5 TBX5
3 10.46 HEY2 NKX2-5 TBX5

GO Terms for Tricuspid Atresia

Cellular components related to Tricuspid Atresia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-DNA complex GO:0032993 8.62 NKX2-5 TBX5

Biological processes related to Tricuspid Atresia according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.98 HEY2 MESP1 NKX2-5 TBX5 ZFPM2
2 multicellular organism development GO:0007275 9.97 CFC1 HEY2 MESP1 NKX2-5 TBX5
3 negative regulation of transcription, DNA-templated GO:0045892 9.89 HEY2 MESP1 NKX2-5 ZFPM2
4 positive regulation of transcription, DNA-templated GO:0045893 9.83 HEY2 MESP1 NKX2-5 TBX5 ZFPM2
5 BMP signaling pathway GO:0030509 9.64 CFC1 NKX2-5
6 pattern specification process GO:0007389 9.63 HEY2 TBX5
7 heart looping GO:0001947 9.63 MESP1 NKX2-5
8 vasculogenesis GO:0001570 9.63 HEY2 NKX2-5 ZFPM2
9 outflow tract morphogenesis GO:0003151 9.62 HEY2 NKX2-5
10 heart morphogenesis GO:0003007 9.62 MESP1 NKX2-5
11 gastrulation GO:0007369 9.61 CFC1 MESP1
12 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.61 HEY2 NKX2-5
13 outflow tract septum morphogenesis GO:0003148 9.6 NKX2-5 ZFPM2
14 cardiac muscle tissue development GO:0048738 9.57 NKX2-5 ZFPM2
15 ventricular trabecula myocardium morphogenesis GO:0003222 9.56 HEY2 NKX2-5
16 heart trabecula formation GO:0060347 9.55 HEY2 NKX2-5
17 endocardial cushion development GO:0003197 9.54 CRELD1 TBX5
18 ventricular septum morphogenesis GO:0060412 9.54 HEY2 NKX2-5 ZFPM2
19 cardiac ventricle morphogenesis GO:0003208 9.52 HEY2 NKX2-5
20 ventricular cardiac muscle cell development GO:0055015 9.51 HEY2 NKX2-5
21 positive regulation of cardiac muscle cell proliferation GO:0060045 9.5 HEY2 TBX5 ZFPM2
22 positive regulation of cardioblast differentiation GO:0051891 9.49 NKX2-5 TBX5
23 cardiac ventricle formation GO:0003211 9.48 MESP1 NKX2-5
24 bundle of His development GO:0003166 9.4 NKX2-5 TBX5
25 cardiac muscle cell differentiation GO:0055007 9.33 MESP1 NKX2-5 TBX5
26 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.26 NKX2-5 ZFPM2
27 atrial septum morphogenesis GO:0060413 9.13 HEY2 NKX2-5 TBX5
28 heart development GO:0007507 9.02 CFC1 HEY2 NKX2-5 TBX5 ZFPM2

Molecular functions related to Tricuspid Atresia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.46 HEY2 MESP1 NKX2-5 TBX5
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.35 HEY2 MESP1 NKX2-5 TBX5 ZFPM2
3 transcription factor binding GO:0008134 8.92 HEY2 NKX2-5 TBX5 ZFPM2

Sources for Tricuspid Atresia

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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