MCID: PLM058
MIFTS: 27

Pulmonary Atresia with Intact Ventricular Septum

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Pulmonary Atresia with Intact Ventricular Septum

MalaCards integrated aliases for Pulmonary Atresia with Intact Ventricular Septum:

Name: Pulmonary Atresia with Intact Ventricular Septum 58 54 38 6
Pulmonary Atresia-Intact Ventricular Septum Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
? autosomal recessive


HPO:

33
pulmonary atresia with intact ventricular septum:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 265150
KEGG 38 H01802
ICD10 via Orphanet 35 Q22.6
UMLS via Orphanet 75 C0344975
Orphanet 60 ORPHA1208
MedGen 43 C0344975

Summaries for Pulmonary Atresia with Intact Ventricular Septum

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1208Disease definitionPulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation.Visit the Orphanet disease page for more resources.

MalaCards based summary : Pulmonary Atresia with Intact Ventricular Septum, also known as pulmonary atresia-intact ventricular septum syndrome, is related to tricuspid valve insufficiency and patent ductus arteriosus 1. An important gene associated with Pulmonary Atresia with Intact Ventricular Septum is TPM1 (Tropomyosin 1). Affiliated tissues include heart and testes, and related phenotypes are maternal diabetes and pulmonary artery atresia

Description from OMIM: 265150

Related Diseases for Pulmonary Atresia with Intact Ventricular Septum

Diseases related to Pulmonary Atresia with Intact Ventricular Septum via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 tricuspid valve insufficiency 10.4
2 patent ductus arteriosus 1 10.3
3 single ventricular heart 10.3
4 heart disease 10.3
5 aortic coarctation 10.3
6 prune belly syndrome 10.2
7 wolff-parkinson-white syndrome 10.2
8 enterocolitis 10.2
9 tricuspid atresia 10.2
10 myocardial infarction 10.2
11 aortic valve disease 2 10.2
12 left ventricular noncompaction 10.2
13 thrombosis 10.2
14 atrial heart septal defect 10.2
15 pulmonary valve stenosis 10.2
16 perinatal necrotizing enterocolitis 10.2
17 rere-related disorders 10.2
18 coronary artery aneurysm 10.2
19 double discordia 10.2
20 pulmonary sequestration 10.2

Graphical network of the top 20 diseases related to Pulmonary Atresia with Intact Ventricular Septum:



Diseases related to Pulmonary Atresia with Intact Ventricular Septum

Symptoms & Phenotypes for Pulmonary Atresia with Intact Ventricular Septum

Human phenotypes related to Pulmonary Atresia with Intact Ventricular Septum:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 maternal diabetes 60 33 hallmark (90%) Very frequent (99-80%) HP:0009800
2 pulmonary artery atresia 60 33 hallmark (90%) Very frequent (99-80%) HP:0004935
3 abnormal tricuspid valve morphology 33 hallmark (90%) HP:0001702
4 patent ductus arteriosus 60 33 frequent (33%) Frequent (79-30%) HP:0001643
5 premature birth 60 33 frequent (33%) Frequent (79-30%) HP:0001622
6 abnormality of the tricuspid valve 60 Very frequent (99-80%)
7 hypoplastic right heart 33 HP:0010954

Symptoms via clinical synopsis from OMIM:

58
Cardiac:
pulmonary atresia
hypoplastic right heart

Clinical features from OMIM:

265150

Drugs & Therapeutics for Pulmonary Atresia with Intact Ventricular Septum

Search Clinical Trials , NIH Clinical Center for Pulmonary Atresia with Intact Ventricular Septum

Genetic Tests for Pulmonary Atresia with Intact Ventricular Septum

Anatomical Context for Pulmonary Atresia with Intact Ventricular Septum

MalaCards organs/tissues related to Pulmonary Atresia with Intact Ventricular Septum:

42
Heart, Testes

Publications for Pulmonary Atresia with Intact Ventricular Septum

Articles related to Pulmonary Atresia with Intact Ventricular Septum:

(show top 50) (show all 218)
# Title Authors Year
1
Fetal cardiac intervention for right sided heart disease: Pulmonary atresia with intact ventricular septum. ( 30920148 )
2019
2
Long-term outcomes after intervention for pulmonary atresia with intact ventricular septum. ( 30712000 )
2019
3
Pulmonary Atresia With Intact Ventricular Septum With Borderline Tricuspid Valve: How Small Is Too Small. ( 31027561 )
2019
4
Ductal stenting to improve pulmonary blood flow in pulmonary atresia with intact ventricular septum and critical pulmonary stenosis after balloon valvuloplasty. ( 31030705 )
2019
5
Aortic perfusion score for pulmonary atresia with intact ventricular septum: An antegrade coronary perfusion scoring system that is predictive of need for transplant and mortality. ( 28653340 )
2018
6
A perforation procedure for pulmonary atresia with intact ventricular septum : Egyptian experience and adaptations. ( 28835981 )
2018
7
Perioperative and Anesthetic Considerations in Pulmonary Atresia With Intact Ventricular Septum. ( 29047321 )
2018
8
Dor procedure for pulmonary atresia with intact ventricular septum in an infant. ( 29049818 )
2018
9
Surgical strategy and outcomes for the delayed diagnosis of pulmonary atresia with intact ventricular septum. ( 29358023 )
2018
10
Long-term outcomes of single-ventricle palliation for pulmonary atresia with intact ventricular septum: Fontan survivors remain at risk of late myocardial ischaemia and death. ( 29444216 )
2018
11
Transthoracic Echocardiographic Assessment of Coronary Flow in the Diagnosis of Right Ventricular-Dependent Coronary Circulation in Pulmonary Atresia with Intact Ventricular Septum. ( 29516127 )
2018
12
Immediate effects and outcome of in-utero pulmonary valvuloplasty in fetuses with pulmonary atresia with intact ventricular septum or critical pulmonary stenosis. ( 29569770 )
2018
13
Aortic to right ventricular shunt for pulmonary atresia with intact ventricular septum and bilateral coronary ostial atresia. ( 29628345 )
2018
14
Pulmonary atresia with intact ventricular septum and congenital left ventricular aneurysm. ( 29679992 )
2018
15
Transcatheter perforation of atretic pulmonary valve by the stiff end of a coronary wire in neonates with pulmonary atresia with intact ventricular septum: A solution in developing countries. ( 29989054 )
2018
16
Coil occlusion of aberrant arteries to pulmonary sequestration in a case with pulmonary atresia with intact ventricular septum: successful treatment of repetitive myocardial ischaemic attacks. ( 27702416 )
2017
17
Transcatheter pulmonary valve perforation using chronic total occlusion wire in pulmonary atresia with intact ventricular septum. ( 28163422 )
2017
18
Outcomes After Decompression of the Right Ventricle in Infants With Pulmonary Atresia With Intact Ventricular Septum Are Associated With Degree of Tricuspid Regurgitation: Results From the Congenital Catheterization Research Collaborative. ( 28500137 )
2017
19
Optimal Z-Score Use in Surgical Decision-Making in Pulmonary Atresia With Intact Ventricular Septum. ( 28520535 )
2017
20
Predictors of Mortality in Children with Pulmonary Atresia with Intact Ventricular Septum. ( 28871366 )
2017
21
Pulmonary atresia with intact ventricular septum and coronary cameral fistulae: an unusual finding of a subsystemic right ventricle. ( 26796991 )
2016
22
Multiple Coronary Artery Aneurysms of the Right Coronary Artery in Neonate with Pulmonary Atresia with Intact Ventricular Septum. ( 26857432 )
2016
23
Large Right Ventricular Clot in Pulmonary Atresia With Intact Ventricular Septum: In Defense of Biventricular Approach. ( 26884452 )
2016
24
Platypnea-Orthodeoxia Syndrome Two Decades after Definitive Surgical Repair of Pulmonary Atresia with Intact Ventricular Septum. ( 26996585 )
2016
25
Pulmonary atresia with intact ventricular septum and hypoplastic right ventricle in an Arabian foal. ( 27283083 )
2016
26
Surgical results for pulmonary atresia with intact ventricular septum: a single-centre 15-year experience and medium-term follow-up. ( 27369118 )
2016
27
Biventricular repair of pulmonary atresia with intact ventricular septum and severely hypoplastic right ventricle: a case report of a minimum intervention surgical approach. ( 27377540 )
2016
28
Right Ventricular Outflow Tract Obstruction: Pulmonary Atresia With Intact Ventricular Septum, Pulmonary Stenosis, and Ebstein's Malformation. ( 27490618 )
2016
29
Transventricular valvotomy for pulmonary atresia with intact ventricular septum in neonates: a single-centre experience in mid-term follow-up. ( 24639451 )
2015
30
Comparison of the offset distance of the tricuspid septal leaflet in neonates with Ebstein's anomaly and neonates with pulmonary atresia with intact ventricular septum. ( 25022783 )
2015
31
Possible link between right ventricular coronary sinusoids and noncompaction sinusoids in pulmonary atresia with intact ventricular septum patients that later develop left ventricular noncompaction. ( 24767937 )
2014
32
Hybrid approach for pulmonary atresia with intact ventricular septum: early single center results and comparison to the standard surgical approach. ( 23996932 )
2014
33
Mini-Konno procedure using a 10 mm handmade valve for pulmonary atresia with intact ventricular septum and severe aortic stenosis. ( 24336795 )
2014
34
Prenatal tricuspid valve size as a predictor of postnatal outcome in patients with severe pulmonary stenosis or pulmonary atresia with intact ventricular septum. ( 24457468 )
2014
35
More than 25 years of experience in managing pulmonary atresia with intact ventricular septum. ( 25149048 )
2014
36
Right ventricular thrombosis in two patients with pulmonary atresia with intact ventricular septum. ( 27279050 )
2014
37
Outcomes of transcatheter approach for initial treatment of pulmonary atresia with intact ventricular septum. ( 23076881 )
2013
38
Transcatheter management of neonates with pulmonary atresia with intact ventricular septum: a single center experience from Turkey. ( 23305587 )
2013
39
Pulmonary atresia with intact ventricular septum and right ventricular dependent coronary circulation through the "vessels of Wearn". ( 23332812 )
2013
40
Long-term functional health status and exercise test variables for patients with pulmonary atresia with intact ventricular septum: a Congenital Heart Surgeons Society study. ( 23374986 )
2013
41
Balloon valvuloplasty through the right ventricle: another treatment of pulmonary atresia with intact ventricular septum. ( 23506634 )
2013
42
Catheter-based treatment in patients with critical pulmonary stenosis or pulmonary atresia with intact ventricular septum: a single institute experience with comparison between patients with and without additional procedure for pulmonary flow. ( 23602004 )
2013
43
Long-term outcome following catheter valvotomy for pulmonary atresia with intact ventricular septum. ( 22497827 )
2012
44
Perioperative management of pulmonary atresia with intact ventricular septum in a 5-year old. ( 22508217 )
2012
45
Pulmonary valvulotomy in a fetus with pulmonary atresia with intact ventricular septum: First experience in Turkey. ( 23720691 )
2012
46
Clinical outcomes of adult survivors of pulmonary atresia with intact ventricular septum. ( 21596450 )
2012
47
Acquired ventricular septal aneurysm in a patient with pulmonary atresia with intact ventricular septum. ( 21864450 )
2012
48
Exercise capacity and cardiac reserve in children and adolescents with corrected pulmonary atresia with intact ventricular septum after univentricular palliation and biventricular repair. ( 21908009 )
2012
49
Predictors of reintervention in neonates with critical pulmonary stenosis or pulmonary atresia with intact ventricular septum. ( 21954133 )
2012
50
Effect of age on exercise capacity and cardiac reserve in patients with pulmonary atresia with intact ventricular septum after biventricular repair. ( 22290918 )
2012

Variations for Pulmonary Atresia with Intact Ventricular Septum

ClinVar genetic disease variations for Pulmonary Atresia with Intact Ventricular Septum:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TPM1 NM_001018005.1(TPM1): c.388A> G (p.Ile130Val) single nucleotide variant Likely pathogenic rs1114167355 GRCh38 Chromosome 15, 63059576: 63059576
2 TPM1 NM_001018005.1(TPM1): c.388A> G (p.Ile130Val) single nucleotide variant Likely pathogenic rs1114167355 GRCh37 Chromosome 15, 63351775: 63351775

Expression for Pulmonary Atresia with Intact Ventricular Septum

Search GEO for disease gene expression data for Pulmonary Atresia with Intact Ventricular Septum.

Pathways for Pulmonary Atresia with Intact Ventricular Septum

GO Terms for Pulmonary Atresia with Intact Ventricular Septum

Sources for Pulmonary Atresia with Intact Ventricular Septum

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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