Pulmonary Atresia with Ventricular Septal Defect disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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 Expand all tables

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the circulatory system

Congenital malformations of great arteries

Atresia of pulmonary artery

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

SNOMED-CT via HPO ⁶⁸ 10930001 204443008 253549006 more

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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

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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
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:

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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

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Drugs & Therapeutics for Pulmonary Atresia with Ventricular Septal Defect

Interventional clinical trials:

#	Name	Status	NCT ID
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

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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

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

⁴⁰

Heart, Lung, Thymus

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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	DiChiara JA...Vlad P	7377161	1980
2	Tetralogy of Fallot or Pulmonary Atresia with Ventricular Septal Defect after the Age of 40 Years: A Single Center Study. ⁶¹	Hock J...Tutarel O	32438748	2020
3	Surgical Options for Pulmonary Atresia with Ventricular Septal Defect in Neonates and Young Infants. ⁶¹	Lee WY...Yun TJ	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	Kauw D...Bouma BJ	32145937	2020
5	Complete repair with unifocalization of the only unilateral lung. ⁶¹	Ishidou M...Ikai A	30875003	2020
6	The prevalence of genetic diagnoses in fetuses with severe congenital heart defects. ⁶¹	van Nisselrooij AEL...Haak MC	32341573	2020
7	Midline unifocalization for pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. ⁶¹	Mainwaring RD	32274207	2020
8	Current era outcomes of pulmonary atresia with ventricular septal defect: A single center cohort in Thailand. ⁶¹	Lertsakulpiriya K...Sriyoschati S	32198468	2020
9	Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome. ⁶¹	Micaglio E...Pappone C	31835735	2019
10	Imaging of Pulmonary Atresia With Ventricular Septal Defect. ⁶¹	Abdel Razek AAK...Elmansy M	31738213	2019
11	Fetal pulmonary atresia with ventricular septal defect: Features, associations, and outcome in fetuses with different pulmonary circulation supply types. ⁶¹	Zhou J...Zeng S	31351012	2019
12	Lecompte Procedure for Relief of Severe Airway Compression in Children With Congenital Heart Disease. ⁶¹	Greene CL...Hanley FL	31496414	2019
13	Perfusion Methods and Modifications to the Cardiopulmonary Bypass Circuit for Midline Unifocalization Procedures. ⁶¹	Margetson TD...Hanley FL	31548736	2019
14	A Review of the Management of Pulmonary Atresia, Ventricular Septal Defect, and Major Aortopulmonary Collateral Arteries. ⁶¹	Soquet J...d'Udekem Y	30831109	2019
15	Surgical results of unifocalization revision. ⁶¹	Mainwaring RD...Hanley FL	30982588	2019
16	Measurement of Residual Collateral Flow in Pulmonary Atresia With Major Aortopulmonary Collaterals. ⁶¹	Mainwaring RD...Hanley FL	30928554	2019
17	Catheterization Performed in the Early Postoperative Period After Congenital Heart Surgery in Children. ⁶¹	Eraso-Diaz Del Castillo AM...Canas Arenas EM	30830282	2019
18	Rare Copy Number Variations Might Not be Involved in the Molecular Pathogenesis of PA-IVS in an Unselected Chinese Cohort. ⁶¹	He X...Zheng J	30868185	2019
19	[Joint Cardiovascular Surgeries of Two Hospitals in Shizuoka for Adult Congenital Heart Disease (ACHD) Patients]. ⁶¹	Hirose K...Sakamoto K	31266915	2019
20	Utilisation of a three-dimensional printed model for the management of coronary-pulmonary artery fistula from left main coronary artery. ⁶¹	Misra A...Kobayashi D	30764888	2019
21	Pulmonary Atresia with Ventricular Septal Defect: Rare Presentation with Coronary-to-Pulmonary Artery Collaterals from Both Right and Left Coronaries. ⁶¹	Ballal P...Karunakaran J	30917743	2019
22	Identification of Rare Copy Number Variants Associated With Pulmonary Atresia With Ventricular Septal Defect. ⁶¹	Xie H...Yu Y	30745907	2019
23	Analysis of achieving an "ideal" outcome following midline unifocalization. ⁶¹	Mainwaring RD...Hanley FL	30417684	2019
24	Prenatal Diagnosis and Postnatal Outcome of Fetuses with Pulmonary Atresia and Ventricular Septal Defect. ⁶¹	Gottschalk I...Berg C	30616264	2019
25	Early Childhood Inpatient Costs of Critical Congenital Heart Disease. ⁶¹	Pinto NM...Botto LD	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	Jia Q...Liang C	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	Lloyd DFA...Krasemann T	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	Greene CL...Hanley FL	29545034	2018
29	Live-Born Major Congenital Heart Disease in Denmark: Incidence, Detection Rate, and Termination of Pregnancy Rate From 1996 to 2013. ⁶¹	Lytzen R...Sondergaard L	30027209	2018
30	Collateral benefit in pulmonary atresia with ventricular septal defect? ⁶¹	Kumar SR	29753507	2018
31	Pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals: collateral vessel disease burden and unifocalisation strategies. ⁶¹	Hofferberth SC...Emani SM	29978776	2018
32	Surgical algorithm and results for repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals. ⁶¹	Mainwaring RD...Hanley FL	29789151	2018
33	Repair of Ductus or Hemi-Truncus to One Lung and Major Aortopulmonary Collaterals to the Other Lung. ⁶¹	Mainwaring RD...Hanley FL	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	Jo TK...Kim YH	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	Jia Q...Liang C	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	Mainwaring RD...Hanley FL	29447337	2018
37	Surgical strategies for pulmonary atresia with ventricular septal defect associated with major aortopulmonary collateral arteries. ⁶¹	Ikai A	29802565	2018
38	Aortopulmonary window with pumonary atresia with ventricular septal defect with D-transposition of great arteries: extremely rare anomaly. ⁶¹	Sondhi S...Mehta A	29898907	2018
39	Prenatal diagnosis of pulmonary atresia with ventricular septal defect. ⁶¹	Yang SH...Li SL	28752252	2018
40	One-stage definitive repair of complete atrioventricular septal defect and pulmonary atresia with major aortopulmonary collateral arteries. ⁶¹	Ide Y...Sakamoto K	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	Chaosuwannakit N...Makarawate P	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	Marquez-Gonzalez H...Garduno-Espinosa J	29998090	2018
43	Role of computed tomography angiography in the differentiation of feline truncus arteriosus communis from pulmonary atresia with ventricular septal defect. ⁶¹	Markovic LE...Potter BM	29111286	2017
44	Impact of Pulmonary Flow Study Pressure on Outcomes After One-Stage Unifocalization. ⁶¹	Trezzi M...Carotti A	28821333	2017
45	Determinants of Adverse Outcomes After Systemic-To-Pulmonary Shunts in Biventricular Circulation. ⁶¹	Hobbes B...Brink J	28870391	2017
46	Coronary-pulmonary arterial fistula in a neonate with pulmonary atresia-ventricular septal defect and single coronary artery. ⁶¹	Alkhushi N...Attia W	28898455	2017
47	Major Aortopulmonary Collateral Arteries With Anatomy Other Than Pulmonary Atresia/Ventricular Septal Defect. ⁶¹	Patrick WL...Hanley FL	28527961	2017
48	Outcomes of palliative right ventricle to pulmonary artery connection for pulmonary atresia with ventricular septal defect. ⁶¹	Lenoir M...Raisky O	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	Jia Q...Huang M	28369397	2017
50	Dental management of pediatric patients affected by pulmonary atresia with ventricular septal defect: A scoping review. ⁶¹	Garrocho-Rangel A...Pozos-Guillen A	28624838	2017

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Genes for Pulmonary Atresia with Ventricular Septal Defect

Genes related to Pulmonary Atresia with Ventricular Septal Defect (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FOXP1	Forkhead Box P1	Protein Coding	7.74	GeneCards inferred via : Variants (show sections)

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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

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Expression for Pulmonary Atresia with Ventricular Septal Defect

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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⁷⁴ Wikipedia