MCID: TRC062
MIFTS: 43

Tricuspid Atresia malady

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Tricuspid Atresia

Aliases & Descriptions for Tricuspid Atresia:

Name: Tricuspid Atresia 54 12 50 56 14
Congenital Agenesis of the Tricuspid Valve 50

Characteristics:

Orphanet epidemiological data:

56
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:

OMIM 54 605067
Disease Ontology 12 DOID:0080169
Orphanet 56 ORPHA1209
ICD10 via Orphanet 34 Q22.4
MESH via Orphanet 43 D018785
UMLS via Orphanet 70 C0243002

Summaries for Tricuspid Atresia

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

MalaCards based summary : Tricuspid Atresia, also known as congenital agenesis of the tricuspid valve, is related to ventricular septal defect and transposition of the great arteries. An important gene associated with Tricuspid Atresia is ZFPM2 (Zinc Finger Protein, FOG Family Member 2), and among its related pathways/superpathways are Cardiac Progenitor Differentiation and Heart Development. The drugs Bosentan and Phosphodiesterase 5 Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and liver, and related phenotypes are cardiovascular system and craniofacial

Wikipedia : 71 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 67)
id Related Disease Score Top Affiliating Genes
1 ventricular septal defect 10.3
2 transposition of the great arteries 10.2
3 aortopulmonary window 10.1
4 congenital diarrhea 7 with exudative enteropathy 10.0 GDF1 NKX2-6
5 ascending cholangitis 10.0 GDF1 NKX2-6
6 aneurysm 10.0
7 dentine erosion 10.0 NKX2-5 NKX2-6
8 dextrocardia 10.0
9 univentricular heart 10.0
10 vulvar apocrine adenocarcinoma 10.0 CRELD1 NKX2-6
11 huriez syndrome 9.9 CRELD1 NKX2-6
12 intestinal atresia 9.9 NKX2-6 ZFPM2
13 vulvar sebaceous carcinoma 9.9 CRELD1 NKX2-6
14 testicular germ cell tumor non-seminomatous 9.9 CRELD1 HEY2 NKX2-6
15 myocardial infarction 9.8
16 wolff-parkinson-white syndrome 9.8
17 tetralogy of fallot 9.8
18 double outlet left ventricle 9.8
19 esophageal atresia 9.8
20 protein-losing enteropathy 9.8
21 tracheoesophageal fistula 9.8
22 esophagitis 9.8
23 malignant pineal area germ cell neoplasm 9.7 GDF1 NKX2-5 NKX2-6 ZFPM2
24 pulmonary hypertension 9.7
25 situs inversus 9.7
26 syncope 9.7
27 arteriovenous fistula 9.7
28 interatrial communication 9.7
29 hypoplastic left heart syndrome 9.7
30 muscular dystrophy 9.7
31 seckel syndrome 9.7
32 hemophilia 9.7
33 coronary arterial fistulas 9.7
34 atrioventricular septal defect 9.7
35 ectopia cordis 9.7
36 phaeochromocytoma 9.7
37 complete atrioventricular canal 9.7
38 double-orifice mitral valve 9.7
39 atrioventricular block 9.7
40 congenital mitral stenosis 9.7
41 aorto-right ventricular tunnel 9.7
42 left ventricular noncompaction 9.7
43 cor triatriatum 9.7
44 endocarditis 9.7
45 rubinstein-taybi syndrome 9.7
46 heterotaxy 9.7
47 hemophilia b 9.7
48 hypoplastic right heart syndrome 9.7
49 pulmonary atresia with intact ventricular septum 9.7
50 methemoglobinemia 9.7

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 GDF1 HEY2 MESP1 NKX2-5 NKX2-6 ZFPM2
2 craniofacial MP:0005382 9.56 GDF1 HEY2 MESP1 NKX2-5
3 embryo MP:0005380 9.55 GDF1 HEY2 MESP1 NKX2-5 NKX2-6
4 normal MP:0002873 9.35 GDF1 MESP1 NKX2-5 NKX2-6 ZFPM2
5 respiratory system MP:0005388 9.1 GDF1 HEY2 MESP1 NKX2-5 NKX2-6 ZFPM2

Drugs & Therapeutics for Tricuspid Atresia

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

(show all 29)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational Phase 2 147536-97-8 104865
2 Phosphodiesterase 5 Inhibitors Phase 2
3 Phosphodiesterase Inhibitors Phase 2
4 Sildenafil Citrate Phase 2 171599-83-0
5 Vasodilator Agents Phase 2
6 Antihypertensive Agents Phase 2
7 Endothelin Receptor Antagonists Phase 2
8 Citrate Nutraceutical Phase 2
9
Citric Acid Nutraceutical, Vet_approved Phase 2 77-92-9 311
10
Dexmedetomidine Approved, Vet_approved Phase 1 76631-46-4, 113775-47-6 68602 5311068 56032
11 Adrenergic Agents Phase 1
12 Adrenergic Agonists Phase 1
13 Adrenergic alpha-2 Receptor Agonists Phase 1
14 Adrenergic alpha-Agonists Phase 1
15 Analgesics Phase 1
16 Analgesics, Non-Narcotic Phase 1
17 Central Nervous System Depressants Phase 1
18 Hypnotics and Sedatives Phase 1
19 Neurotransmitter Agents Phase 1
20 Peripheral Nervous System Agents Phase 1
21
Mechlorethamine Approved 51-75-2 4033
22
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
23 Antioxidants
24 Micronutrients
25 Protective Agents
26 Trace Elements
27 Vitamins
28 diuretics
29 Tin Fluorides

Interventional clinical trials:

(show all 11)
id Name Status NCT ID Phase
1 Sildenafil After the Fontan Operation Completed NCT00507819 Phase 2
2 Study of Placebo or Bosentan to Treat Patients With Single Ventricle Physiology. Completed NCT01292551 Phase 2
3 Liothyronine in Children With Single Ventricle Congenital Cardiac Malformations Undergoing the Fontan Procedure Completed NCT00004828 Phase 1
4 Understanding Dexmedetomidine In Infants Post-Operative From Cardiac Surgery Completed NCT00573066 Phase 1
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
8 National Congenital Heart Disease Audit Recruiting NCT02303535
9 Stress Echo 2020 - The International Stress Echo Study Recruiting NCT03049995
10 Changes in Cerebral Oxygenation During Laparoscopy in Patients With Single Ventricle Anatomy Enrolling by invitation NCT02614664
11 Adult Pulmonary Valve Replacement: A Simple and Reproducible Technique Terminated NCT00384163

Search NIH Clinical Center for Tricuspid Atresia

Genetic Tests for Tricuspid Atresia

Anatomical Context for Tricuspid Atresia

MalaCards organs/tissues related to Tricuspid Atresia:

39
Heart, Lung, Liver, Atrioventricular Node

Publications for Tricuspid Atresia

Articles related to Tricuspid Atresia:

(show top 50) (show all 443)
id Title Authors Year
1
Tricuspid atresia associated with aortopulmonary window: diagnostic and therapeutic dilemmas. ( 27680574 )
2016
2
Successful staged Fontan completion for a tricuspid atresia patient with left ventricular non-compaction. ( 26689445 )
2016
3
Tricuspid Atresia with Non-compaction: An Early Experience with Implications for Surgical Palliation. ( 27942762 )
2016
4
Modified Norwood Procedure for Tricuspid Atresia, Transposition of Great Arteries, and Hypoplastic Right Arch With Complete Vascular Ring. ( 27772616 )
2016
5
Typical atrial flutter with muscular type tricuspid atresia. ( 27226496 )
2016
6
Absent Pulmonary Valve Syndrome With Tricuspid Atresia, Ventricular Septal Defect, and Aneurysmal Dilated Pulmonary Artery: A Case Report of Successful Fontan Completion. ( 27549733 )
2016
7
Giant left atrial appendage aneurysm in association with tricuspid atresia. ( 26758408 )
2016
8
Improved Exercise Performance in Patients With Tricuspid Atresia After the Fontan-BjAPrk Modification With Pulsatile Systolic PulmonaryA Flow. ( 26680312 )
2016
9
Parental Refusal of Surgery in an Infant With Tricuspid Atresia. ( 27940784 )
2016
10
AV nodal ablation in tricuspid atresia; anatomical challenges. ( 27788993 )
2016
11
Tricuspid Atresia IIc With a Vascular Ring: Novel Approach forA Fontan Completion. ( 26897207 )
2016
12
Thrombolytics for late superior caval vein thrombus in a patient with tricuspid atresia and single-lung Glenn anastomosis. ( 26194906 )
2016
13
Tricuspid Atresia 18 Years Post Glenn: Is Fontan Necessary in All Cases? ( 26426189 )
2015
14
Influence of Morphology and Initial Surgical Strategy on Survival of Infants With Tricuspid Atresia. ( 26233275 )
2015
15
Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndrome. ( 26085772 )
2015
16
Surgical management of competing pulmonary blood flow affects survival before Fontan/Kreutzer completion in patients with tricuspid atresia type I. ( 26145767 )
2015
17
Determination of a new mutation in MT-ND1 gene of a patient with dextrocardia, ventriculoarterial discordance, and tricuspid atresia. ( 25626582 )
2015
18
Absent pulmonary valve, tricuspid atresia, and congenital heart block. ( 25548352 )
2015
19
Truncus arteriosus, tricuspid atresia and partial anomalous pulmonary venous drainage: a unique form of univentricular heart. ( 25972595 )
2015
20
Tricuspid atresia with truncus arteriosus: successful surgical treatment. ( 25087803 )
2014
21
Successful hybrid management for a patient with tricuspid atresia and innominate vein obstruction. ( 25231417 )
2014
22
A case of Seckel syndrome with tricuspid atresia. ( 25059015 )
2014
23
Successful palliation of a child with left ventricular noncompaction cardiomyopathy and tricuspid atresia to Fontan procedure. ( 25087802 )
2014
24
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
25
Tricuspid atresia with progressive ductal restriction in a fetus. ( 22729970 )
2013
26
Fetal heterotaxy with tricuspid atresia, pulmonary atresia, and isomerism of the right atrial appendages at 22 weeks. ( 24147244 )
2013
27
Congenital coronary arteriopathy and myocardial infarctions occur with tricuspid atresia. ( 22622686 )
2013
28
Combined heart transplantation and thoracic endovascular aortic repair for heart failure secondary to tricuspid atresia palliated with Potts shunt. ( 23989821 )
2013
29
Simplified approach for ablation of nodal reentrant tachycardia in a patient with tricuspid atresia and extracardiac Fontan palliation. ( 24775626 )
2013
30
Crisscross heart with tricuspid atresia diagnosed in utero. ( 22958430 )
2013
31
Tricuspid Atresia Associated with Truncus Arteriosus versus Aortopulmonary Window: Combining Fetal and Postnatal Echocardiography to Make the Diagnosis. ( 24033694 )
2013
32
eComment. Balancing the pulmonary circulation in tricuspid atresia with an aortopulmonary window. ( 23868968 )
2013
33
eReply. Re: Balancing the pulmonary circulation in tricuspid atresia with an aortopulmonary window. ( 23868969 )
2013
34
Tricuspid atresia with aortopulmonary window: challenges in achieving a balanced circulation. ( 23628655 )
2013
35
Simplified approach for ablation of nodal reentrant tachycardia in a patient with tricuspid atresia and extracardiac fontan palliation. ( 23153687 )
2013
36
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
37
Ablation of atrioventricular nodal reentrant tachycardia in a patient with tricuspid atresia guided by electroanatomic mapping. ( 21091748 )
2012
38
Three-dimensional mechanical dyssynchrony and myocardial deformation of the left ventricle in patients with tricuspid atresia after Fontan procedure. ( 22297084 )
2012
39
Successful reoperation of the valveless calcified right atrium to right ventricle conduit in an adult patient with tricuspid atresia after Fontan procedure. ( 22223698 )
2012
40
Two heterozygous mutations in NFATC1 in a patient with Tricuspid Atresia. ( 23226213 )
2012
41
Aorto-right ventricular tunnel causing functional tricuspid atresia. ( 22529068 )
2012
42
Modified bjork procedure for tricuspid atresia with pulmonary hypertension. ( 21973011 )
2011
43
Tricuspid atresia with absent pulmonary valve and intact ventricular septum: a rare association. ( 21392265 )
2011
44
Persistent left superior vena cava draining into an unroofed coronary sinus in tricuspid atresia: an uncommon anomaly. ( 21360004 )
2011
45
Misleading unilateral V/Q and CTPA abnormality following previous cardiac surgery for tricuspid atresia. ( 21295210 )
2011
46
63-year survival after Blalock-Taussig shunt operation in a patient with single ventricle, tricuspid atresia, and pulmonary stenosis. ( 21426531 )
2011
47
Left juxtaposed atrial appendages in a patient with dextrocardia and tricuspid atresia: TEE images. ( 21636938 )
2011
48
A case of tricuspid atresia with normally related great vessels and coarctation of the aorta. ( 21702887 )
2011
49
Atrioventricular septal defect with coexisting tricuspid atresia. ( 21262068 )
2011
50
Prenatal diagnosis of tricuspid atresia with hypoplastic right ventricle associated with truncus arteriosus communis type II. ( 19533158 )
2010

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:

id Super pathways Score Top Affiliating Genes
1 10.68 MESP1 NKX2-5
2 10.29 HEY2 NKX2-5

GO Terms for Tricuspid Atresia

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

(show all 25)
id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.92 HEY2 MESP1 NKX2-5 NKX2-6
2 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.91 HEY2 MESP1 NKX2-5 ZFPM2
3 negative regulation of transcription, DNA-templated GO:0045892 9.84 HEY2 MESP1 NKX2-5 ZFPM2
4 BMP signaling pathway GO:0030509 9.62 GDF1 NKX2-5
5 heart development GO:0007507 9.62 HEY2 NKX2-5 NKX2-6 ZFPM2
6 heart looping GO:0001947 9.61 MESP1 NKX2-5
7 heart morphogenesis GO:0003007 9.6 MESP1 NKX2-5
8 outflow tract morphogenesis GO:0003151 9.59 HEY2 NKX2-5
9 cardiac muscle cell differentiation GO:0055007 9.58 MESP1 NKX2-5
10 outflow tract septum morphogenesis GO:0003148 9.58 NKX2-5 ZFPM2
11 cardiac muscle tissue development GO:0048738 9.57 NKX2-5 ZFPM2
12 positive regulation of cardiac muscle cell proliferation GO:0060045 9.56 HEY2 ZFPM2
13 embryonic heart tube development GO:0035050 9.55 NKX2-5 NKX2-6
14 vasculogenesis GO:0001570 9.54 HEY2 NKX2-5 ZFPM2
15 pharyngeal system development GO:0060037 9.52 NKX2-5 NKX2-6
16 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.51 HEY2 NKX2-5
17 ventricular trabecula myocardium morphogenesis GO:0003222 9.49 HEY2 NKX2-5
18 heart trabecula formation GO:0060347 9.48 HEY2 NKX2-5
19 atrial septum morphogenesis GO:0060413 9.46 HEY2 NKX2-5
20 cardiac ventricle morphogenesis GO:0003208 9.43 HEY2 NKX2-5
21 cardiac ventricle formation GO:0003211 9.4 MESP1 NKX2-5
22 atrial cardiac muscle cell development GO:0055014 9.26 NKX2-5 NKX2-6
23 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.16 NKX2-5 ZFPM2
24 ventricular septum morphogenesis GO:0060412 9.13 HEY2 NKX2-5 ZFPM2
25 ventricular cardiac muscle cell development GO:0055015 8.8 HEY2 NKX2-5 NKX2-6

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.26 HEY2 MESP1 NKX2-5 NKX2-6
2 transcription factor binding GO:0008134 8.8 HEY2 NKX2-5 ZFPM2

Sources for Tricuspid Atresia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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