MCID: PLM059
MIFTS: 24

Pulmonary Atresia with Ventricular Septal Defect

Categories: Rare diseases, Cardiovascular diseases, Fetal 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 57 53 59 37 6

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 57 178370
Orphanet 59 ORPHA1207
UMLS via Orphanet 74 C0344976
ICD10 via Orphanet 34 Q25.5
MedGen 42 C0344976
KEGG 37 H01803

Summaries for Pulmonary Atresia with Ventricular Septal Defect

NIH Rare Diseases : 53 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 11.2
2 ventricular septal defect 11.1
3 tetralogy of fallot 10.5
4 coronary arterial fistulas 10.2
5 cervicitis 10.0
6 pulmonary sequestration 10.0
7 aneurysm 10.0
8 persistent fifth aortic arch 10.0

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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
ventricular septal defect

Respiratory Lung:
pulmonary atresia


Clinical features from OMIM:

178370

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

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 Recruiting 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:

41
Heart

Publications for Pulmonary Atresia with Ventricular Septal Defect

Articles related to Pulmonary Atresia with Ventricular Septal Defect:

(show top 50) (show all 142)
# Title Authors Year
1
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
2
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
3
Pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals: collateral vessel disease burden and unifocalisation strategies. ( 29978776 )
2018
4
An analysis of patients requiring unifocalization revision following midline unifocalization for pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals. ( 29447337 )
2018
5
Surgical algorithm and results for repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals. ( 29789151 )
2018
6
Anatomy of the retro-oesophageal major aortopulmonary collateral arteries in patients with pulmonary atresia with ventricular septal defect: results from preoperative CTA. ( 29305732 )
2018
7
Surgical strategies for pulmonary atresia with ventricular septal defect associated with major aortopulmonary collateral arteries. ( 29802565 )
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
Collateral benefit in pulmonary atresia with ventricular septal defect? ( 29753507 )
2018
10
Dental management of pediatric patients affected by pulmonary atresia with ventricular septal defect: A scoping review. ( 28624838 )
2017
11
Prenatal diagnosis of pulmonary atresia with ventricular septal defect. ( 28752252 )
2017
12
The value of dual-source multi detector-row computed tomography in determining pulmonary blood supply in patients with pulmonary atresia with ventricular septal defect. ( 28703845 )
2017
13
Bilateral Coronary-Pulmonary Artery Fistulas in Pulmonary Atresia With Ventricular Septal Defect. ( 28496023 )
2017
14
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
15
Reconstruction of the pulmonary posterior wall using in situ autologous tissue for the treatment of pulmonary atresia with ventricular septal defect. ( 28231853 )
2017
16
Outcomes of palliative right ventricle to pulmonary artery connection for pulmonary atresia with ventricular septal defect. ( 28633393 )
2017
17
Role of computed tomography angiography in the differentiation of feline truncus arteriosus communis from pulmonary atresia with ventricular septal defect. ( 29111286 )
2017
18
Double Aortic Arch Associated with Pulmonary Atresia with Ventricular Septal Defect. ( 27074277 )
2016
19
Pulmonary Atresia with Ventricular Septal Defect and Major Aortopulmonary Collaterals Associated with Left Pulmonary Artery Interruption. ( 27733998 )
2016
20
Pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries: primary repair. ( 26811506 )
2016
21
Long-term outcome after treatment of pulmonary atresia with ventricular septal defect: nationwide study of 109 patients born in 1970-2007. ( 26620210 )
2016
22
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
23
Complete Preoperative Evaluation of Pulmonary Atresia with Ventricular Septal Defect with Multi-Detector Computed Tomography. ( 26741649 )
2016
24
Reverse Szabo technique for stenting a single major aorto-pulmonary collateral vessel in pulmonary atresia with ventricular septal defect. ( 27709098 )
2016
25
Pulmonary flow study predicts survival in pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. ( 27692766 )
2016
26
Prenatal Differentiation between Truncus Arteriosus (type II and III) and Pulmonary Atresia with Ventricular Septal Defect. ( 25594532 )
2015
27
Artery fistula causing aortic regurgitation in pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. ( 25952246 )
2015
28
A central shunt to rehabilitate diminutive pulmonary arteries in patients with pulmonary atresia with ventricular septal defect. ( 25454919 )
2015
29
Accuracy of Fetal Echocardiography in the Differential Diagnosis between Truncus Arteriosus and Pulmonary Atresia with Ventricular Septal Defect. ( 26113195 )
2015
30
Surgical Repair of Pulmonary Atresia With Ventricular Septal Defect and Major Aortopulmonary Collaterals With Absent Intrapericardial Pulmonary Arteries. ( 26138766 )
2015
31
Combination of double aortic arch and interruption of aortic arch in pulmonary atresia with ventricular septal defect. ( 25585494 )
2015
32
Pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals: single-stage complete unifocalization. ( 26320215 )
2015
33
Combined Rastelli and Bentall Procedures for Pulmonary Atresia With Ventricular Septal Defect and a Large Aortopulmonary Collateral Artery and Ascending Aorta Aneurysm. ( 24958054 )
2014
34
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
35
Neonatal right ventricle to pulmonary connection as a palliative procedure for pulmonary atresia with ventricular septal defect or severe tetralogy of Fallot. ( 24047707 )
2014
36
Early complete repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals. ( 24480261 )
2014
37
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
38
[Results of surgical treatment of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries]. ( 24738195 )
2013
39
Coronary artery to pulmonary artery communications in pulmonary atresia with ventricular septal defect. ( 24206891 )
2013
40
Hybrid procedure for pulmonary atresia with ventricular septal defect in a low birth weight neonate. ( 23423321 )
2013
41
Prevalence of anomalous coronary arteries in pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals. ( 23871887 )
2013
42
Pulmonary atresia with ventricular septal defect and pulmonary sequestration. ( 24570532 )
2013
43
Pulmonary atresia with ventricular septal defect and multifocal pulmonary blood supply: does an intensive interventional approach improve the outcome? ( 22171603 )
2012
44
Coronary artery-to-pulmonary artery fistula in a case of pulmonary atresia with ventricular septal defect. ( 21769503 )
2011
45
Longest survivor of pulmonary atresia with ventricular septal defect: well-developed major aortopulmonary collateral arteries demonstrated by multidetector computed tomography. ( 22064959 )
2011
46
Surgical strategy for pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. ( 21740761 )
2011
47
Surgical management of pulmonary atresia with ventricular septal defect: early total correction versus shunt. ( 21481840 )
2011
48
Determinants of outcome after surgical treatment of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. ( 20850144 )
2010
49
A novel two-stage complete repair method for pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. ( 20193241 )
2010
50
Role of 64-MDCT in evaluation of pulmonary atresia with ventricular septal defect. ( 20028912 )
2010

Variations for Pulmonary Atresia with Ventricular Septal Defect

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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