Pulmonary atresia with ventricular septal defect

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).

Input patient's signs and symptoms

Narrow down the case reports

Total: 46 (papers)

(per page)

Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
1 (40.2%)	9244820	[A rare combination of partial trisomy 9 with pulmonary atresia]. Nekarda T, Kececioglu D, Kehl HG, Gehrmann J, Miny P, Vogt J. Klin Padiatr. 1997;209(3):127-9. [ Show abstract ] [ Hide abstract ]
		Microcephaly Prominent nose


		Adult Chromosome Aberrations Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 9 Echocardiography Electrocardiography Females Homo sapiens Infant, Newborn Male Trisomy Ventricular Septal Defects
2 (17.5%)	8572781	Complete repair of PA-VSD with diminutive or discontinuous pulmonary arteries by transverse thoracosternotomy. Moritz A, Marx M, Wollenek G, Domanig E, Wolner E. Ann Thorac Surg. 1996;61(2):646-50. [ Show abstract ] [ Hide abstract ]
		Respiratory failure Scarring


		Adult Child Child, Preschool Females Heart Arrest, Induced Hemodynamics Homo sapiens Infant Repeat Surgery Stenosis Survival Rate Thoracotomy Ventricular Septal Defects
3 (4.0%)	30764888	Utilisation of a three-dimensional printed model for the management of coronary-pulmonary artery fistula from left main coronary artery. Misra A, Walters HL, Kobayashi D. Cardiol Young. 2019;29(3):431-434. [ Show abstract ] [ Hide abstract ]
		Coronary-pulmonary artery fistula


		Arterio-Arterial Fistula Coronary Vessels Females Homo sapiens Infant, Newborn Printing, Three-Dimensional Vascular Surgical Procedures
3 (4.0%)	29898907	Aortopulmonary window with pumonary atresia with ventricular septal defect with D-transposition of great arteries: extremely rare anomaly. Sondhi S, Negi PC, Sharma R, Mehta A. BMJ Case Rep. 2018;2018:. [ Show abstract ] [ Hide abstract ]
		Ventricular septal defect


		Aftercare Aortopulmonary Septal Defect Echocardiography Electrocardiography Females Homo sapiens Rare Diseases Transposition of Great Vessels Ventricular Septal Defects
3 (4.0%)	29111286	Role of computed tomography angiography in the differentiation of feline truncus arteriosus communis from pulmonary atresia with ventricular septal defect. Markovic LE, Scansen BA, Potter BM. J Vet Cardiol. 2017;19(6):514-522. [ Show abstract ] [ Hide abstract ]
		Ventricular septal defect


		Animals Cat Diseases Computed Tomography Angiography Differential Diagnosis Felis catus Females Heart Septal Defects Male Truncus Arteriosus, Persistent
3 (4.0%)	29049668	One-stage definitive repair of complete atrioventricular septal defect and pulmonary atresia with major aortopulmonary collateral arteries. Ide Y, Murata M, Ito H, Sakamoto K. Interact Cardiovasc Thorac Surg. 2018;26(2):343-345. [ Show abstract ] [ Hide abstract ]
		Aortopulmonary collateral arteries


		Collateral Circulation Echocardiography Females Follow-Up Studies Heart Septal Defects Homo sapiens Imaging, Three-Dimensional Infant Male Time Factors
3 (4.0%)	28898455	Coronary-pulmonary arterial fistula in a neonate with pulmonary atresia-ventricular septal defect and single coronary artery. Alkhushi N, Al-Radi OO, Ajlan A, Abdelmohsen G, Attia W. Echocardiography. 2017;34(10):1536-1539. [ Show abstract ] [ Hide abstract ]
		Ventricular septal defect


		Collateral Circulation Coronary Vessel Anomalies Coronary Vessels Echocardiography Females Heart Septal Defects Homo sapiens Infant, Newborn
3 (4.0%)	28496023	Bilateral Coronary-Pulmonary Artery Fistulas in Pulmonary Atresia With Ventricular Septal Defect. Nagatomo Y, Muneuchi J, Watanabe M, Joo K, Ochiai Y. Int Heart J. 2017;58(3):463-465. [ Show abstract ] [ Hide abstract ]
		Coronary-pulmonary artery fistula


		Arterio-Arterial Fistula Coronary Vessels Heart Septal Defects Homo sapiens Infant, Newborn Male
3 (4.0%)	28116756	Branch pulmonary artery peel operation in a patient without a native intrapericardial pulmonary artery. Kim H, Sung SC, Choi KH, Lee HD, Ban GH, Kim G, Kim HY. J Card Surg. 2017;32(2):145-147. [ Show abstract ] [ Hide abstract ]
		Vascular dilatation


		Child, Preschool Females Follow-Up Studies Homo sapiens Pulmonary Circulation Ventricular Septal Defects X-Ray Computed Tomography
3 (4.0%)	27733998 (5059124)	Pulmonary Atresia with Ventricular Septal Defect and Major Aortopulmonary Collaterals Associated with Left Pulmonary Artery Interruption. Mun DN, Park CS, Kim YH, Goo HW. Korean J Thorac Cardiovasc Surg. 2016;49(5):374-378. [ Show abstract ] [ Hide abstract ]
		Ventricular septal defect

Phenotype(s) retrieved from Orphanet

Total: 0

HPO ID	Term	Frequency

Phenotype(s) retrieved from case reports

Total: 11

HPO ID	Term	# of case reports
HP:0031834	Aortopulmonary collateral arteries	10
HP:0000822	Hypertension	2
HP:0011641	Coronary artery fistula	2
HP:0025516	Coronary-pulmonary artery fistula	2
HP:0001635	Congestive heart failure	1
HP:0001643	Patent ductus arteriosus	1
HP:0001650	Aortic valve stenosis	1
HP:0001659	Aortic regurgitation	1
HP:0001945	Fever	1
HP:0011604	Aortopulmonary window	1
HP:0100632	Pulmonary sequestration	1

Causative gene(s) retrieved from Orphanet

Total: 0

Gene Symbol	Gene Name	Entrez Gene ID