MCID: PLM059
MIFTS: 23

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 58 54 60 38 6

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
pulmonary atresia with ventricular septal defect:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 178370
KEGG 38 H01803
ICD10 via Orphanet 35 Q25.5
UMLS via Orphanet 75 C0344976
Orphanet 60 ORPHA1207
MedGen 43 C0344976

Summaries for Pulmonary Atresia with Ventricular Septal Defect

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1207Disease definitionPulmonary 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.

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, and related phenotypes are ventricular septal defect and pulmonary artery atresia

Description 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:

# Related Disease Score Top Affiliating Genes
1 conotruncal heart malformations 11.4
2 ventricular septal defect 11.2
3 tetralogy of fallot 10.6
4 aortic valve insufficiency 10.3
5 pulmonary sequestration 10.1
6 persistent fifth aortic arch 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:

33
# Description HPO Frequency HPO Source Accession
1 ventricular septal defect 33 HP:0001629
2 pulmonary artery atresia 33 HP:0004935

Symptoms via clinical synopsis from OMIM:

58
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 Choice of Palliative Procedures for Pulmonary Atresia With Ventricular Septal Defect Patients Completed NCT02861963 Not Applicable

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:

42
Heart

Publications for Pulmonary Atresia with Ventricular Septal Defect

Articles related to Pulmonary Atresia with Ventricular Septal Defect:

(show top 50) (show all 147)
# Title Authors Year
1
Pulmonary Atresia with Ventricular Septal Defect: Rare Presentation with Coronary-to-Pulmonary Artery Collaterals from Both Right and Left Coronaries. ( 30917743 )
2019
2
Identification of Rare Copy Number Variants Associated With Pulmonary Atresia With Ventricular Septal Defect. ( 30745907 )
2019
3
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. ( 30032587 )
2018
4
Pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals: collateral vessel disease burden and unifocalisation strategies. ( 29978776 )
2018
5
Surgical strategies for pulmonary atresia with ventricular septal defect associated with major aortopulmonary collateral arteries. ( 29802565 )
2018
6
Surgical algorithm and results for repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals. ( 29789151 )
2018
7
Collateral benefit in pulmonary atresia with ventricular septal defect? ( 29753507 )
2018
8
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. ( 29744658 )
2018
9
Correction to: Anatomy of the retro-oesophageal major aortopulmonary collateral arteries in patients with pulmonary atresia with ventricular septal defect: results from preoperative CTA. ( 29744640 )
2018
10
Impact of Phrenic Nerve Palsy and Need for Diaphragm Plication Following Surgery for Pulmonary Atresia With Ventricular Septal Defect and Major Aortopulmonary Collaterals. ( 29545034 )
2018
11
An analysis of patients requiring unifocalization revision following midline unifocalization for pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals. ( 29447337 )
2018
12
Anatomy of the retro-oesophageal major aortopulmonary collateral arteries in patients with pulmonary atresia with ventricular septal defect: results from preoperative CTA. ( 29305732 )
2018
13
Prenatal diagnosis of pulmonary atresia with ventricular septal defect. ( 28752252 )
2018
14
The value of dual-source multidetector-row computed tomography in determining pulmonary blood supply in patients with pulmonary atresia with ventricular septal defect. ( 28703845 )
2018
15
Role of computed tomography angiography in the differentiation of feline truncus arteriosus communis from pulmonary atresia with ventricular septal defect. ( 29111286 )
2017
16
Outcomes of palliative right ventricle to pulmonary artery connection for pulmonary atresia with ventricular septal defect. ( 28633393 )
2017
17
Dental management of pediatric patients affected by pulmonary atresia with ventricular septal defect: A scoping review. ( 28624838 )
2017
18
Bilateral Coronary-Pulmonary Artery Fistulas in Pulmonary Atresia With Ventricular Septal Defect. ( 28496023 )
2017
19
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. ( 28369397 )
2017
20
Reconstruction of the pulmonary posterior wall using in situ autologous tissue for the treatment of pulmonary atresia with ventricular septal defect. ( 28231853 )
2017
21
Accuracy of Fetal Echocardiography in the Differential Diagnosis between Truncus Arteriosus and Pulmonary Atresia with Ventricular Septal Defect. ( 26113195 )
2016
22
Pulmonary Atresia with Ventricular Septal Defect and Major Aortopulmonary Collaterals Associated with Left Pulmonary Artery Interruption. ( 27733998 )
2016
23
Reverse Szabo technique for stenting a single major aorto-pulmonary collateral vessel in pulmonary atresia with ventricular septal defect. ( 27709098 )
2016
24
Pulmonary flow study predicts survival in pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. ( 27692766 )
2016
25
Double Aortic Arch Associated with Pulmonary Atresia with Ventricular Septal Defect. ( 27074277 )
2016
26
Pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries: primary repair. ( 26811506 )
2016
27
An unusual case of left bronchial compression caused by a large patent arterial duct in a child with pulmonary atresia with ventricular septal defect. ( 26796364 )
2016
28
Complete Preoperative Evaluation of Pulmonary Atresia with Ventricular Septal Defect with Multi-Detector Computed Tomography. ( 26741649 )
2016
29
Long-term outcome after treatment of pulmonary atresia with ventricular septal defect: nationwide study of 109 patients born in 1970-2007. ( 26620210 )
2016
30
Surgical Repair of Pulmonary Atresia With Ventricular Septal Defect and Major Aortopulmonary Collaterals With Absent Intrapericardial Pulmonary Arteries. ( 26138766 )
2015
31
Artery fistula causing aortic regurgitation in pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. ( 25952246 )
2015
32
Prenatal differentiation between truncus arteriosus (Types II and III) and pulmonary atresia with ventricular septal defect. ( 25594532 )
2015
33
Combination of double aortic arch and interruption of aortic arch in pulmonary atresia with ventricular septal defect. ( 25585494 )
2015
34
A central shunt to rehabilitate diminutive pulmonary arteries in patients with pulmonary atresia with ventricular septal defect. ( 25454919 )
2015
35
Pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals: single-stage complete unifocalization. ( 26320215 )
2015
36
A Rare Case of Pulmonary Atresia with Ventricular Septal Defect with a Right Sided Aortic Arch and a Calcified Pulmonary AVM Presenting in an Adult without Cyanosis. ( 25580345 )
2014
37
Combined Rastelli and Bentall Procedures for Pulmonary Atresia With Ventricular Septal Defect and a Large Aortopulmonary Collateral Artery and Ascending Aorta Aneurysm. ( 24958054 )
2014
38
Establishment of right ventricle-pulmonary artery continuity as the first-stage palliation in older infants with pulmonary atresia with ventricular septal defect may be preferable to use of an arterial shunt. ( 24686154 )
2014
39
Early complete repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals. ( 24480261 )
2014
40
Use of femoral vein homograft for unifocalizing major aortopulmonary collateral arteries in a patient with pulmonary atresia with ventricular septal defect. ( 24075568 )
2014
41
Neonatal right ventricle to pulmonary connection as a palliative procedure for pulmonary atresia with ventricular septal defect or severe tetralogy of Fallot. ( 24047707 )
2014
42
[Results of surgical treatment of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries]. ( 24738195 )
2013
43
Pulmonary atresia with ventricular septal defect and pulmonary sequestration. ( 24570532 )
2013
44
Coronary artery to pulmonary artery communications in pulmonary atresia with ventricular septal defect. ( 24206891 )
2013
45
Prevalence of anomalous coronary arteries in pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals. ( 23871887 )
2013
46
Hybrid procedure for pulmonary atresia with ventricular septal defect in a low birth weight neonate. ( 23423321 )
2013
47
Pulmonary atresia with ventricular septal defect and multifocal pulmonary blood supply: does an intensive interventional approach improve the outcome? ( 22171603 )
2012
48
Longest survivor of pulmonary atresia with ventricular septal defect: well-developed major aortopulmonary collateral arteries demonstrated by multidetector computed tomography. ( 22064959 )
2011
49
Coronary artery-to-pulmonary artery fistula in a case of pulmonary atresia with ventricular septal defect. ( 21769503 )
2011
50
Surgical strategy for pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. ( 21740761 )
2011

Variations for Pulmonary Atresia with Ventricular Septal Defect

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXP1 NM_032682.5(FOXP1): c.1702C> T (p.Pro568Ser) single nucleotide variant Benign/Likely benign, association rs147674680 GRCh37 Chromosome 3, 71019907: 71019907
2 FOXP1 NM_032682.5(FOXP1): c.1702C> T (p.Pro568Ser) single nucleotide variant Benign/Likely benign, association rs147674680 GRCh38 Chromosome 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
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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