MCID: PLM059
MIFTS: 29

Pulmonary Atresia with Ventricular Septal Defect

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Pulmonary Atresia with Ventricular Septal Defect

MalaCards integrated aliases for Pulmonary Atresia with Ventricular Septal Defect:

Name: Pulmonary Atresia with Ventricular Septal Defect 56 52 58 36 6

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
pulmonary atresia with ventricular septal defect:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 178370
KEGG 36 H01803
ICD10 via Orphanet 33 Q25.5
UMLS via Orphanet 72 C0344976
Orphanet 58 ORPHA1207
MedGen 41 C0344976

Summaries for Pulmonary Atresia with Ventricular Septal Defect

KEGG : 36 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 : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1207 Definition Pulmonary 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

Related Diseases for Pulmonary Atresia with Ventricular Septal Defect

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 conotruncal heart malformations 11.9
2 ventricular septal defect 11.3
3 heart septal defect 11.3
4 tetralogy of fallot 10.7
5 patent ductus arteriosus 1 10.5
6 cyanosis, transient neonatal 10.5
7 aortic valve insufficiency 10.5
8 single ventricular heart 10.5
9 digeorge syndrome 10.3
10 velocardiofacial syndrome 10.3
11 congestive heart failure 10.3
12 aortopulmonary window 10.3
13 right aortic arch 10.3
14 persistent fifth aortic arch 10.3
15 cardiac conduction defect 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 dextro-looped transposition of the great arteries 10.1
24 respiratory failure 10.1
25 arteriovenous malformation 10.1
26 eclampsia 10.1
27 amenorrhea 10.1
28 pulmonary valve insufficiency 10.1
29 capillary leak syndrome 10.1
30 pneumothorax 10.1
31 vascular disease 10.1
32 atrial heart septal defect 10.1
33 dental caries 10.1
34 acute kidney failure 10.1
35 tricuspid valve insufficiency 10.1
36 infertility 10.1
37 placental abruption 10.1
38 heterotaxy 10.1
39 47,xyy 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 univentricular heart 10.1
47 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

Symptoms & Phenotypes for Pulmonary Atresia with Ventricular Septal Defect

Human phenotypes related to Pulmonary Atresia with Ventricular Septal Defect:

31
# Description HPO Frequency HPO Source Accession
1 ventricular septal defect 31 HP:0001629
2 pulmonary artery atresia 31 HP:0004935

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
ventricular septal defect

Respiratory Lung:
pulmonary atresia

Clinical features from OMIM:

178370

Drugs & Therapeutics for Pulmonary Atresia with Ventricular Septal Defect

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 Management of Prenatally Diagnosed Isolated Right Aortic Arch: the ARCADE Study Completed NCT04029064
3 Congenital Heart Disease (CHD): Hemodynamic Effects of Acute Maternal Hyperoxygenation in the Fetus Recruiting NCT03944837
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

Genetic Tests for Pulmonary Atresia with Ventricular Septal Defect

Anatomical Context for Pulmonary Atresia with Ventricular Septal Defect

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

40
Heart, Lung, Thymus

Publications for Pulmonary Atresia with Ventricular Septal Defect

Articles related to Pulmonary Atresia with Ventricular Septal Defect:

(show top 50) (show all 367)
# Title Authors PMID Year
1
Familial pulmonary atresia. Its occurrence with a ventricular septal defect. 56
7377161 1980
2
Tetralogy of Fallot or Pulmonary Atresia with Ventricular Septal Defect after the Age of 40 Years: A Single Center Study. 61
32438748 2020
3
Surgical Options for Pulmonary Atresia with Ventricular Septal Defect in Neonates and Young Infants. 61
32377890 2020
4
22q11.2 deletion syndrome is associated with increased mortality in adults with tetralogy of Fallot and pulmonary atresia with ventricular septal defect. 61
32145937 2020
5
Complete repair with unifocalization of the only unilateral lung. 61
30875003 2020
6
The prevalence of genetic diagnoses in fetuses with severe congenital heart defects. 61
32341573 2020
7
Midline unifocalization for pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. 61
32274207 2020
8
Current era outcomes of pulmonary atresia with ventricular septal defect: A single center cohort in Thailand. 61
32198468 2020
9
Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome. 61
31835735 2019
10
Imaging of Pulmonary Atresia With Ventricular Septal Defect. 61
31738213 2019
11
Fetal pulmonary atresia with ventricular septal defect: Features, associations, and outcome in fetuses with different pulmonary circulation supply types. 61
31351012 2019
12
Lecompte Procedure for Relief of Severe Airway Compression in Children With Congenital Heart Disease. 61
31496414 2019
13
Perfusion Methods and Modifications to the Cardiopulmonary Bypass Circuit for Midline Unifocalization Procedures. 61
31548736 2019
14
A Review of the Management of Pulmonary Atresia, Ventricular Septal Defect, and Major Aortopulmonary Collateral Arteries. 61
30831109 2019
15
Surgical results of unifocalization revision. 61
30982588 2019
16
Measurement of Residual Collateral Flow in Pulmonary Atresia With Major Aortopulmonary Collaterals. 61
30928554 2019
17
Catheterization Performed in the Early Postoperative Period After Congenital Heart Surgery in Children. 61
30830282 2019
18
Rare Copy Number Variations Might Not be Involved in the Molecular Pathogenesis of PA-IVS in an Unselected Chinese Cohort. 61
30868185 2019
19
[Joint Cardiovascular Surgeries of Two Hospitals in Shizuoka for Adult Congenital Heart Disease (ACHD) Patients]. 61
31266915 2019
20
Utilisation of a three-dimensional printed model for the management of coronary-pulmonary artery fistula from left main coronary artery. 61
30764888 2019
21
Pulmonary Atresia with Ventricular Septal Defect: Rare Presentation with Coronary-to-Pulmonary Artery Collaterals from Both Right and Left Coronaries. 61
30917743 2019
22
Identification of Rare Copy Number Variants Associated With Pulmonary Atresia With Ventricular Septal Defect. 61
30745907 2019
23
Analysis of achieving an "ideal" outcome following midline unifocalization. 61
30417684 2019
24
Prenatal Diagnosis and Postnatal Outcome of Fetuses with Pulmonary Atresia and Ventricular Septal Defect. 61
30616264 2019
25
Early Childhood Inpatient Costs of Critical Congenital Heart Disease. 61
30268400 2018
26
Correction to: Anatomy of the retro-oesophageal major aortopulmonary collateral arteries in patients with pulmonary atresia with ventricular septal defect: results from preoperative CTA. 61
29744640 2018
27
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. 61
29744658 2018
28
Impact of Phrenic Nerve Palsy and Need for Diaphragm Plication Following Surgery for Pulmonary Atresia With Ventricular Septal Defect and Major Aortopulmonary Collaterals. 61
29545034 2018
29
Live-Born Major Congenital Heart Disease in Denmark: Incidence, Detection Rate, and Termination of Pregnancy Rate From 1996 to 2013. 61
30027209 2018
30
Collateral benefit in pulmonary atresia with ventricular septal defect? 61
29753507 2018
31
Pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals: collateral vessel disease burden and unifocalisation strategies. 61
29978776 2018
32
Surgical algorithm and results for repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals. 61
29789151 2018
33
Repair of Ductus or Hemi-Truncus to One Lung and Major Aortopulmonary Collaterals to the Other Lung. 61
29684371 2018
34
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. 61
30032587 2018
35
Anatomy of the retro-oesophageal major aortopulmonary collateral arteries in patients with pulmonary atresia with ventricular septal defect: results from preoperative CTA. 61
29305732 2018
36
An analysis of patients requiring unifocalization revision following midline unifocalization for pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals. 61
29447337 2018
37
Surgical strategies for pulmonary atresia with ventricular septal defect associated with major aortopulmonary collateral arteries. 61
29802565 2018
38
Aortopulmonary window with pumonary atresia with ventricular septal defect with D-transposition of great arteries: extremely rare anomaly. 61
29898907 2018
39
Prenatal diagnosis of pulmonary atresia with ventricular septal defect. 61
28752252 2018
40
One-stage definitive repair of complete atrioventricular septal defect and pulmonary atresia with major aortopulmonary collateral arteries. 61
29049668 2018
41
The value of dual-source multidetector-row computed tomography in determining pulmonary blood supply in patients with pulmonary atresia with ventricular septal defect. 61
28703845 2018
42
Tei Index Is the Best Echocardiographic Parameter for Assessing Right Ventricle Function in Patients With Unrepaired Congenital Heart Diseases With Outflow Tract Obstruction. 61
29998090 2018
43
Role of computed tomography angiography in the differentiation of feline truncus arteriosus communis from pulmonary atresia with ventricular septal defect. 61
29111286 2017
44
Impact of Pulmonary Flow Study Pressure on Outcomes After One-Stage Unifocalization. 61
28821333 2017
45
Determinants of Adverse Outcomes After Systemic-To-Pulmonary Shunts in Biventricular Circulation. 61
28870391 2017
46
Coronary-pulmonary arterial fistula in a neonate with pulmonary atresia-ventricular septal defect and single coronary artery. 61
28898455 2017
47
Major Aortopulmonary Collateral Arteries With Anatomy Other Than Pulmonary Atresia/Ventricular Septal Defect. 61
28527961 2017
48
Outcomes of palliative right ventricle to pulmonary artery connection for pulmonary atresia with ventricular septal defect. 61
28633393 2017
49
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. 61
28369397 2017
50
Dental management of pediatric patients affected by pulmonary atresia with ventricular septal defect: A scoping review. 61
28624838 2017

Variations for Pulmonary Atresia with Ventricular Septal Defect

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

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FOXP1 NM_032682.6(FOXP1):c.1702C>T (p.Pro568Ser)SNV Benign/Likely benign 55847 rs147674680 3:71019907-71019907 3:70970756-70970756

Expression for Pulmonary Atresia with Ventricular Septal Defect

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

Pathways for Pulmonary Atresia with Ventricular Septal Defect

GO Terms for Pulmonary Atresia with Ventricular Septal Defect

Sources for Pulmonary Atresia with Ventricular Septal Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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