MCID: PLM058
MIFTS: 28

Pulmonary Atresia with Intact Ventricular Septum

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases, Respiratory 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 57 20 36 6
Pulmonary Atresia-Intact Ventricular Septum Syndrome 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
? autosomal recessive


HPO:

31
pulmonary atresia with intact ventricular septum:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 265150
KEGG 36 H01802
ICD10 via Orphanet 33 Q22.6
UMLS via Orphanet 71 C0344975
Orphanet 58 ORPHA1208
MedGen 41 C0344975

Summaries for Pulmonary Atresia with Intact Ventricular Septum

KEGG : 36 Pulmonary atresia with intact ventricular septum (PAIVS) is a severe cardiac malformation characterized by variable right ventricular development and imperforate pulmonary valve. PAIVS has a wide spectrum of clinical presentation ranging from cyanosis to shock due to closure of ductus arteriosus. The treatment follows initial stabilization with prostaglandin and establishment of antegrade flow. Because of the morphologic heterogeneity, repair or palliation strategies vary widely, ranging from single ventricle palliation to complete biventricular repair. Overall, regardless of anatomical subtype, survival is poor, reported to be as low as 50% at 5 years.

MalaCards based summary : Pulmonary Atresia with Intact Ventricular Septum, also known as pulmonary atresia-intact ventricular septum syndrome, is related to single ventricular heart 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 liver, and related phenotypes are abnormal tricuspid valve morphology and maternal diabetes

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1208 Definition Pulmonary 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.

More information 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 46)
# Related Disease Score Top Affiliating Genes
1 single ventricular heart 10.8
2 patent ductus arteriosus 1 10.8
3 heart septal defect 10.7
4 tricuspid valve insufficiency 10.7
5 atrial heart septal defect 10.6
6 cyanosis, transient neonatal 10.6
7 pulmonary valve stenosis 10.6
8 tricuspid atresia 10.5
9 hemopericardium 10.5
10 cardiac tamponade 10.5
11 ventricular septal defect 10.5
12 coronary stenosis 10.5
13 aneurysm 10.5
14 fibromuscular dysplasia 10.4
15 tetralogy of fallot 10.4
16 endocardial fibroelastosis 10.4
17 heart disease 10.4
18 pericardial effusion 10.4
19 pulmonary valve insufficiency 10.4
20 tricuspid valve stenosis 10.4
21 congestive heart failure 10.4
22 interatrial communication 10.4
23 prune belly syndrome 10.2
24 coarctation of aorta 10.2
25 wolff-parkinson-white syndrome 10.2
26 enterocolitis 10.2
27 aortic valve disease 2 10.2
28 infective endocarditis 10.2
29 cardiac arrest 10.2
30 left ventricular noncompaction 10.2
31 thrombosis 10.2
32 b-lymphoblastic leukemia/lymphoma 10.2
33 mitral valve insufficiency 10.2
34 hypertrophic cardiomyopathy 10.2
35 patent foramen ovale 10.2
36 perinatal necrotizing enterocolitis 10.2
37 pulmonary embolism 10.2
38 hypoplastic left heart syndrome 10.2
39 chromosomal triplication 10.2
40 coronary artery aneurysm 10.2
41 double discordia 10.2
42 pulmonary sequestration 10.2
43 congenital left ventricular aneurysm 10.2
44 cleft mitral valve 10.2
45 overgrowth syndrome 10.2
46 right aortic arch 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:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal tricuspid valve morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001702
2 maternal diabetes 58 31 hallmark (90%) Very frequent (99-80%) HP:0009800
3 pulmonary artery atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004935
4 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
5 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
6 hypoplastic right heart 31 HP:0010954

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiac:
hypoplastic right heart
pulmonary atresia

Clinical features from OMIM®:

265150 (Updated 05-Apr-2021)

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:

40
Heart, Liver

Publications for Pulmonary Atresia with Intact Ventricular Septum

Articles related to Pulmonary Atresia with Intact Ventricular Septum:

(show top 50) (show all 479)
# Title Authors PMID Year
1
Pulmonary atresia with intact ventricular septum (PA-IVS) in monozygotic twins. 61 57
18203206 2008
2
Familial occurrence of pulmonary atresia with intact ventricular septum. 57 61
9332657 1997
3
Pulmonary atresia with intact ventricular septum and hypoplastic right heart in sibs: a single gene disorder? 57 61
1536166 1992
4
Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects. 6
28359939 2017
5
Quantification of end diastolic forward flow in two cases with pulmonary atresia with intact ventricular septum. 61
33363694 2021
6
Invited Commentary: Survival in Pulmonary Atresia With Intact Ventricular Septum: The Coronaries Hold the Key! 61
33684005 2021
7
Atretic Coronary Artery Ostia in a Full-Term Infant with Early Postnatal Demise. 61
33585067 2021
8
Utility of Fetal Cardiovascular Magnetic Resonance for Prenatal Diagnosis of Complex Congenital Heart Defects. 61
33779747 2021
9
Safe Decompression of the Right Ventricle for PAIVS in Neonates With Coronary Fistulae: Including the Selective Use of Fistula Ligation to Avoid Coronary Steal. 61
33684004 2021
10
Fetal Pulmonary Valvuloplasty in Fetuses with Right Ventricular Outflow Tract Obstructive Disease: Experience and Outcome of the First Five Cases in China. 61
33090241 2021
11
Balloon Valvuloplasty via the Pulmonary Artery Trunk for Treating Neonates With Severe Pulmonary Valve Disease. 61
33635246 2021
12
Modified wire atrial septostomy with a reverse transseptal puncture in an infant: Case report. 61
33539042 2021
13
Natural history of pulmonary atresia with intact ventricular septum (PAIVS) and critical pulmonary stenosis (CPS) and prediction of outcome. 61
33585987 2021
14
Neonatal Cone Valvuloplasty for Pulmonary Atresia/Intact Ventricular Septum and Ebsteinoid Valve. 61
33421397 2021
15
Interplay between right atrial function and liver stiffness in adults with repaired right ventricular outflow obstructive lesions. 61
33367540 2020
16
Residual Restrictive Right Ventricular Physiology after One-and-a-Half Ventricular Repair Conversion in Pulmonary Atresia with Intact Ventricular Septum. 61
33376846 2020
17
Absent pulmonary valve or pulmonary atresia with intact ventricular septum: Which is it? 61
33011997 2020
18
Large Coronary Artery Fistula in Tricuspid Atresia - Pulmonary Atresia With Intact Ventricular Septum - A Unique Association Revealed on Dual-Source CT. 61
32723686 2020
19
Single-Cell Transcriptomics of Engineered Cardiac Tissues From Patient-Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes Reveals Abnormal Developmental Trajectory and Intrinsic Contractile Defects in Hypoplastic Right Heart Syndrome. 61
33059525 2020
20
Hybrid Approach to Right Ventricle Decompression in Muscular Pulmonary Atresia with Intact Ventricular Septum. 61
32367306 2020
21
Tricuspid Regurgitation in Adults after Repair of Right Ventricular Outflow Obstructive Lesions. 61
32394061 2020
22
Fetal Cardiac Intervention for Pulmonary Atresia with Intact Ventricular Septum: International Fetal Cardiac Intervention Registry. 61
32634804 2020
23
Neonatal Pulmonary Atresia With Intact Ventricular Septum-8-Year Surgical Experience at One Center. 61
32113036 2020
24
Low prenatal detection rate of valvar pulmonary stenosis: What are we missing? 61
32314369 2020
25
Right Ventricle-Dependent Coronary Circulation: Location of Obstruction Is Associated With Survival. 61
31580859 2020
26
A low threshold for neonatal intervention yields a high rate of biventricular outcomes in pulmonary atresia with intact ventricular septum. 61
32321616 2020
27
[Application of arterial duct stent in ductus-dependent hypoplastic right heart syndrome]. 61
32234140 2020
28
Fetal cardiac interventions: Where do we stand? 61
32113817 2020
29
[Efficacy of transcatheter pulmonary valve perforation by micro-guidewire and balloon dilation in neonates with pulmonary atresia with intact ventricular septum]. 61
32102144 2020
30
Transcatheter Approach for Critical Pulmonary Stenosis or Pulmonary Atresia with Intact Ventricular Septum in Young Infants Using the Simmons Catheter. 61
32607082 2020
31
Pulmonary Atresia with Intact Ventricular Septum associated with Ventriculo-Coronary Arterial Communication in a Fetus at 21 Weeks of Gestation. 61
32733723 2020
32
Elabela: A Novel Biomarker for Right Ventricular Pressure Overload in Children With Pulmonary Stenosis or Pulmonary Atresia With Intact Ventricular Septum. 61
33282918 2020
33
Quantitative Assessment of Left Ventricular Dysfunction in Fetal Ebstein's Anomaly and Tricuspid Valve Dysplasia. 61
31551185 2019
34
[Percutaneous management of pulmonary atresia with intact ventricular septum and critical pulmonary stenosis]. 61
30952598 2019
35
Prenatal echocardiographic classification and prognostic evaluation strategy in fetal pulmonary atresia with intact ventricular septum. 61
31626103 2019
36
Modeling the congenital heart condition of pulmonary atresia with intact ventricular septum using human induced pluripotent stem cells. 61
31962916 2019
37
Perforation of the atretic pulmonary valve using chronic total occlusion (CTO) wire and coronary microcatheter. 61
31290594 2019
38
Pacemaker treatment after Fontan surgery-A Swedish national study. 61
30883035 2019
39
Long-term outcomes after intervention for pulmonary atresia with intact ventricular septum. 61
30712000 2019
40
Fetal cardiac intervention for right sided heart disease: Pulmonary atresia with intact ventricular septum. 61
30920148 2019
41
Ductal stenting to improve pulmonary blood flow in pulmonary atresia with intact ventricular septum and critical pulmonary stenosis after balloon valvuloplasty. 61
31030705 2019
42
Management of Congenital Heart Disease: State of the Art-Part II-Cyanotic Heart Defects. 61
30987364 2019
43
Rare Copy Number Variations Might Not be Involved in the Molecular Pathogenesis of PA-IVS in an Unselected Chinese Cohort. 61
30868185 2019
44
[Redo Right Ventricular Outflow Tract Reconstruction in Adult Patients with Congenital Heart Disease]. 61
31266909 2019
45
Differences in Right Ventricular Physiologic Response to Chronic Volume Load in Patients with Repaired Pulmonary Atresia Intact Ventricular Septum/Critical Pulmonary Stenosis Versus Tetralogy of Fallot. 61
30353312 2019
46
Fifty-Five Years Follow-Up of 111 Adult Survivors After Biventricular Repair of PAIVS and PS. 61
30539241 2019
47
Characterization of Left Ventricular Dysfunction by Myocardial Strain in Critical Pulmonary Stenosis and Pulmonary Atresia After Neonatal Pulmonary Valve Balloon Dilation. 61
30503800 2019
48
Pulmonary Atresia With Intact Ventricular Septum With Borderline Tricuspid Valve: How Small Is Too Small. 61
31027561 2019
49
Strain and Rotational Mechanics in Children With Single Left Ventricles After Fontan. 61
30344011 2018
50
Acquired right ventricular outflow tract aneurysm in pulmonary atresia and intact ventricular septum: a nidus for thromboembolism. 61
30060771 2018

Variations for Pulmonary Atresia with Intact Ventricular Septum

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TPM1 NM_001018005.2(TPM1):c.388A>G (p.Ile130Val) SNV Likely pathogenic 370041 rs1114167355 GRCh37: 15:63351775-63351775
GRCh38: 15:63059576-63059576

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
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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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