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MCID: PLM059
MIFTS: 29

Pulmonary Atresia with Ventricular Septal Defect

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Pulmonary Atresia with Ventricular Septal Defect

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MalaCards integrated aliases for Pulmonary Atresia with Ventricular Septal Defect:

Name: Pulmonary Atresia with Ventricular Septal Defect 57 53 59 37 6

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
pulmonary atresia with ventricular septal defect:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

OMIM 57 178370
KEGG 37 H01803
ICD10 via Orphanet 34 Q25.5
UMLS via Orphanet 73 C0344976
Orphanet 59 ORPHA1207
MedGen 42 C0344976
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Summaries for Pulmonary Atresia with Ventricular Septal Defect

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KEGG : 37
Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare and complex cyanotic congenital heart malformation that has a high incidence of early mortality. PA-VSD presents with complete absence of any communication between the right ventricle and the pulmonary arteries. The blood supply to the pulmonary arteries is provided by a patent arterial duct or by major aorto pulmonary collateral arteries (MAPCAs). Two-thirds of the cases with pulmonary atresia are associated with MAPCAs, which can vary greatly in number and site of origin. PA-VSD shares similarities with tetralogy of Fallot (TOF) and has been considered a severe end of the spectrum of TOF. Although surgical interventions have been employed successfully for a number of years, the long-term prognosis has remained poor with an increased incidence of sudden death. An association between conotruncal cardiac abnormalities and 22q11.2 deletion during fetal life has been investigated and reported to occur in 20% of cases of PA-VSD.

MalaCards based summary : Pulmonary Atresia with Ventricular Septal Defect is related to conotruncal heart malformations and ventricular septal defect. An important gene associated with Pulmonary Atresia with Ventricular Septal Defect is FOXP1 (Forkhead Box P1). Affiliated tissues include heart, lung and thymus, and related phenotypes are ventricular septal defect and pulmonary artery atresia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1207DefinitionPulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot (see this term).Visit the Orphanet disease page for more resources.

More information from OMIM: 178370
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Related Diseases for Pulmonary Atresia with Ventricular Septal Defect

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

(show all 48)
# Related Disease Score Top Affiliating Genes
1 conotruncal heart malformations 11.9
2 ventricular septal defect 11.2
3 heart septal defect 11.2
4 tetralogy of fallot 10.6
5 cyanosis, transient neonatal 10.5
6 aortic valve insufficiency 10.5
7 patent ductus arteriosus 1 10.4
8 single ventricular heart 10.4
9 velocardiofacial syndrome 10.3
10 congestive heart failure 10.3
11 transposition of the great arteries 10.3
12 right aortic arch 10.3
13 persistent fifth aortic arch 10.3
14 fibrosis of extraocular muscles, congenital, 1 10.1
15 digeorge syndrome 10.1
16 pulmonary arteriovenous fistulas 10.1
17 tricuspid atresia 10.1
18 pulmonary hypertension 10.1
19 visceral heterotaxy 10.1
20 atrioventricular block 10.1
21 infective endocarditis 10.1
22 cardiac arrest 10.1
23 respiratory failure 10.1
24 arteriovenous malformation 10.1
25 eclampsia 10.1
26 amenorrhea 10.1
27 pulmonary valve insufficiency 10.1
28 capillary leak syndrome 10.1
29 pneumothorax 10.1
30 vascular disease 10.1
31 atrial heart septal defect 10.1
32 dental caries 10.1
33 acute kidney failure 10.1
34 tricuspid valve insufficiency 10.1
35 infertility 10.1
36 placental abruption 10.1
37 heterotaxy 10.1
38 47,xyy 10.1
39 aortopulmonary window 10.1
40 athetosis 10.1
41 congenitally corrected transposition of the great arteries 10.1
42 double discordia 10.1
43 mitral atresia 10.1
44 pulmonary arteriovenous malformation 10.1
45 pulmonary sequestration 10.1
46 systemic capillary leak syndrome 10.1
47 univentricular heart 10.1
48 monosomy 22 10.1

Graphical network of the top 20 diseases related to Pulmonary Atresia with Ventricular Septal Defect:



Diseases related to Pulmonary Atresia with Ventricular Septal Defect
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Symptoms & Phenotypes for Pulmonary Atresia with Ventricular Septal Defect

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Human phenotypes related to Pulmonary Atresia with Ventricular Septal Defect:

32
# Description HPO Frequency HPO Source Accession
1 ventricular septal defect 32 HP:0001629
2 pulmonary artery atresia 32 HP:0004935

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
ventricular septal defect

Respiratory Lung:
pulmonary atresia

Clinical features from OMIM:

178370
Sources

Drugs & Therapeutics for Pulmonary Atresia with Ventricular Septal Defect

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Femoral Allogenic Vein Valved Conduit for Palliative Repair of Pulmonary Atresia With Ventricular Septal Defect Completed NCT02861963
2 Congenital Heart Disease (CHD): Hemodynamic Effects of Acute Maternal Hyperoxygenation in the Fetus Recruiting NCT03944837
3 Management of Prenatally Diagnosed Isolated Right Aortic Arch: the ARCADE Study Recruiting NCT04029064
4 A Review of the Diagnosis, Treatment and Outcomes of Children With Critical Congenital Heart Defects Terminated NCT00208689

Search NIH Clinical Center for Pulmonary Atresia with Ventricular Septal Defect

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Genetic Tests for Pulmonary Atresia with Ventricular Septal Defect

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Anatomical Context for Pulmonary Atresia with Ventricular Septal Defect

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MalaCards organs/tissues related to Pulmonary Atresia with Ventricular Septal Defect:

41
Heart, Lung, Thymus
Sources

Publications for Pulmonary Atresia with Ventricular Septal Defect

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Articles related to Pulmonary Atresia with Ventricular Septal Defect:

(show top 50) (show all 357)
# Title Authors PMID Year
1
Familial pulmonary atresia. Its occurrence with a ventricular septal defect. 8
7377161 1980
2
Surgical results of unifocalization revision. 38
30982588 2019
3
A Review of the Management of Pulmonary Atresia, Ventricular Septal Defect, and Major Aortopulmonary Collateral Arteries. 38
30831109 2019
4
Measurement of Residual Collateral Flow in Pulmonary Atresia With Major Aortopulmonary Collaterals. 38
30928554 2019
5
Fetal pulmonary atresia with ventricular septal defect: Features, associations, and outcome in fetuses with different pulmonary circulation supply types. 38
31351012 2019
6
[Joint Cardiovascular Surgeries of Two Hospitals in Shizuoka for Adult Congenital Heart Disease (ACHD) Patients]. 38
31266915 2019
7
Catheterization Performed in the Early Postoperative Period After Congenital Heart Surgery in Children. 38
30830282 2019
8
Rare Copy Number Variations Might Not be Involved in the Molecular Pathogenesis of PA-IVS in an Unselected Chinese Cohort. 38
30868185 2019
9
Utilisation of a three-dimensional printed model for the management of coronary-pulmonary artery fistula from left main coronary artery. 38
30764888 2019
10
Complete repair with unifocalization of the only unilateral lung. 38
30875003 2019
11
Pulmonary Atresia with Ventricular Septal Defect: Rare Presentation with Coronary-to-Pulmonary Artery Collaterals from Both Right and Left Coronaries. 38
30917743 2019
12
Identification of Rare Copy Number Variants Associated With Pulmonary Atresia With Ventricular Septal Defect. 38
30745907 2019
13
Analysis of achieving an "ideal" outcome following midline unifocalization. 38
30417684 2019
14
Prenatal Diagnosis and Postnatal Outcome of Fetuses with Pulmonary Atresia and Ventricular Septal Defect. 38
30616264 2019
15
Early Childhood Inpatient Costs of Critical Congenital Heart Disease. 38
30268400 2018
16
Catheter, MRI and CT Imaging in Newborns with Pulmonary Atresia with Ventricular Septal Defect and Aortopulmonary Collaterals: Quantifying the Risks of Radiation Dose and Anaesthetic Time. 38
29744658 2018
17
Impact of Phrenic Nerve Palsy and Need for Diaphragm Plication Following Surgery for Pulmonary Atresia With Ventricular Septal Defect and Major Aortopulmonary Collaterals. 38
29545034 2018
18
Correction to: Anatomy of the retro-oesophageal major aortopulmonary collateral arteries in patients with pulmonary atresia with ventricular septal defect: results from preoperative CTA. 38
29744640 2018
19
Live-Born Major Congenital Heart Disease in Denmark: Incidence, Detection Rate, and Termination of Pregnancy Rate From 1996 to 2013. 38
30027209 2018
20
Collateral benefit in pulmonary atresia with ventricular septal defect? 38
29753507 2018
21
Pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals: collateral vessel disease burden and unifocalisation strategies. 38
29978776 2018
22
Surgical algorithm and results for repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals. 38
29789151 2018
23
Repair of Ductus or Hemi-Truncus to One Lung and Major Aortopulmonary Collaterals to the Other Lung. 38
29684371 2018
24
Outcome of neonatal palliative procedure for pulmonary atresia with ventricular septal defect or tetralogy of Fallot with severe pulmonary stenosis: experience in a single tertiary center. 38
30032587 2018
25
Anatomy of the retro-oesophageal major aortopulmonary collateral arteries in patients with pulmonary atresia with ventricular septal defect: results from preoperative CTA. 38
29305732 2018
26
An analysis of patients requiring unifocalization revision following midline unifocalization for pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals. 38
29447337 2018
27
Surgical strategies for pulmonary atresia with ventricular septal defect associated with major aortopulmonary collateral arteries. 38
29802565 2018
28
Aortopulmonary window with pumonary atresia with ventricular septal defect with D-transposition of great arteries: extremely rare anomaly. 38
29898907 2018
29
Prenatal diagnosis of pulmonary atresia with ventricular septal defect. 38
28752252 2018
30
One-stage definitive repair of complete atrioventricular septal defect and pulmonary atresia with major aortopulmonary collateral arteries. 38
29049668 2018
31
The value of dual-source multidetector-row computed tomography in determining pulmonary blood supply in patients with pulmonary atresia with ventricular septal defect. 38
28703845 2018
32
Tei Index Is the Best Echocardiographic Parameter for Assessing Right Ventricle Function in Patients With Unrepaired Congenital Heart Diseases With Outflow Tract Obstruction. 38
29998090 2018
33
Role of computed tomography angiography in the differentiation of feline truncus arteriosus communis from pulmonary atresia with ventricular septal defect. 38
29111286 2017
34
Impact of Pulmonary Flow Study Pressure on Outcomes After One-Stage Unifocalization. 38
28821333 2017
35
Determinants of Adverse Outcomes After Systemic-To-Pulmonary Shunts in Biventricular Circulation. 38
28870391 2017
36
Coronary-pulmonary arterial fistula in a neonate with pulmonary atresia-ventricular septal defect and single coronary artery. 38
28898455 2017
37
Major Aortopulmonary Collateral Arteries With Anatomy Other Than Pulmonary Atresia/Ventricular Septal Defect. 38
28527961 2017
38
Outcomes of palliative right ventricle to pulmonary artery connection for pulmonary atresia with ventricular septal defect. 38
28633393 2017
39
Significant survival advantage of high pulmonary vein index and the presence of native pulmonary artery in pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries: results from preoperative computed tomography angiography. 38
28369397 2017
40
Dental management of pediatric patients affected by pulmonary atresia with ventricular septal defect: A scoping review. 38
28624838 2017
41
Intraoperative Stenting of Pulmonary Artery Stenosis in Children With Congenital Heart Disease. 38
28274523 2017
42
Bilateral Coronary-Pulmonary Artery Fistulas in Pulmonary Atresia With Ventricular Septal Defect. 38
28496023 2017
43
Advances in molecular genetics for pulmonary atresia. 38
27655138 2017
44
Branch pulmonary artery peel operation in a patient without a native intrapericardial pulmonary artery. 38
28116756 2017
45
Reconstruction of the pulmonary posterior wall using in situ autologous tissue for the treatment of pulmonary atresia with ventricular septal defect. 38
28231853 2017
46
Pulmonary flow study predicts survival in pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. 38
27692766 2016
47
Coronary-Pulmonary Artery Fistulas: A Systematic Review. 38
27768631 2016
48
Pulmonary Atresia with Ventricular Septal Defect and Major Aortopulmonary Collaterals Associated with Left Pulmonary Artery Interruption. 38
27733998 2016
49
Fungal infections in children in the early postoperative period after cardiac surgery for congenital heart disease: a single-centre experience. 38
27222000 2016
50
Outcomes of redo pulmonary valve replacement for bioprosthetic pulmonary valve failure in 61 patients with congenital heart disease. 38
26893380 2016
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Variations for Pulmonary Atresia with Ventricular Septal Defect

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ClinVar genetic disease variations for Pulmonary Atresia with Ventricular Septal Defect:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FOXP1 NM_032682.5(FOXP1): c.1702C> T (p.Pro568Ser) single nucleotide variant Benign/Likely benign rs147674680 3:71019907-71019907 3:70970756-70970756
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Expression for Pulmonary Atresia with Ventricular Septal Defect

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Search GEO for disease gene expression data for Pulmonary Atresia with Ventricular Septal Defect.
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Pathways for Pulmonary Atresia with Ventricular Septal Defect

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GO Terms for Pulmonary Atresia with Ventricular Septal Defect

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Sources for Pulmonary Atresia with Ventricular Septal Defect

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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