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Pulmonary atresia with ventricular septal defect

MedGen UID:
87492
•Concept ID:
C0344976
•
Congenital Abnormality
Synonym: Pulmonary Atresia With Ventricular Septal Defect
SNOMED CT: Pulmonary atresia with ventricular septal defect (253591008); PAVSD - Pulmonary atresia with ventricular septal defect (253591008)
 
Monarch Initiative: MONDO:0008343
OMIM®: 178370
Orphanet: ORPHA1207

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). [from ORDO]

Clinical features

From HPO
Ventricular septal defect
MedGen UID:
42366
•Concept ID:
C0018818
•
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
See: Feature record | Search on this feature
Pulmonary artery atresia
MedGen UID:
82723
•Concept ID:
C0265908
•
Congenital Abnormality
A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPulmonary atresia with ventricular septal defect
Follow this link to review classifications for Pulmonary atresia with ventricular septal defect in Orphanet.

Professional guidelines

PubMed

Can ductus arteriosus morphology influence technique/outcome of stent treatment?
Roggen M, Cools B, Brown S, Boshoff D, Heying R, Eyskens B, Gewillig M
Catheter Cardiovasc Interv 2020 May 1;95(6):1149-1157. Epub 2020 Jan 17 doi: 10.1002/ccd.28725. PMID: 31951315
Prenatal Diagnosis and Postnatal Outcome of Fetuses with Pulmonary Atresia and Ventricular Septal Defect.
Gottschalk I, Strizek B, Jehle C, Stressig R, Herberg U, Breuer J, Brockmeier K, Hellmund A, Geipel A, Gembruch U, Berg C
Ultraschall Med 2020 Oct;41(5):514-525. Epub 2019 Jan 7 doi: 10.1055/a-0770-2832. PMID: 30616264
Accuracy of Fetal Echocardiography in the Differential Diagnosis between Truncus Arteriosus and Pulmonary Atresia with Ventricular Septal Defect.
Gómez O, Soveral I, Bennasar M, Crispi F, Masoller N, Marimon E, Bartrons J, Gratacós E, Martinez JM
Fetal Diagn Ther 2016;39(2):90-9. Epub 2015 Jun 25 doi: 10.1159/000433430. PMID: 26113195

Recent clinical studies

Etiology

Perioperative and Anesthetic Considerations in Tetralogy of Fallot With Pulmonary Atresia.
Quinlan CA, Latham GJ, Joffe D, Ross FJ
Semin Cardiothorac Vasc Anesth 2021 Sep;25(3):218-228. doi: 10.1177/10892532211027395. PMID: 34380349
Outcome after surgery for pulmonary atresia with ventricular septal defect, a long-term follow-up study.
Wiezell E, F Gudnason J, Synnergren M, Sunnegårdh J
Acta Paediatr 2021 May;110(5):1610-1619. Epub 2021 Jan 6 doi: 10.1111/apa.15732. PMID: 33351279Free PMC Article
Tetralogy of Fallot With Pulmonary Atresia: Anatomy, Physiology, Imaging, and Perioperative Management.
Ganigara M, Sagiv E, Buddhe S, Bhat A, Chikkabyrappa SM
Semin Cardiothorac Vasc Anesth 2021 Sep;25(3):208-217. Epub 2020 May 26 doi: 10.1177/1089253220920480. PMID: 32450763
Advances in molecular genetics for pulmonary atresia.
Gao M, He X, Zheng J
Cardiol Young 2017 Mar;27(2):207-216. Epub 2016 Sep 22 doi: 10.1017/S1047951116001487. PMID: 27655138
Surgical management of pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals: a protocol-based approach.
Malhotra SP, Hanley FL
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2009:145-51. doi: 10.1053/j.pcsu.2009.01.017. PMID: 19349030

Diagnosis

Perioperative and Anesthetic Considerations in Tetralogy of Fallot With Pulmonary Atresia.
Quinlan CA, Latham GJ, Joffe D, Ross FJ
Semin Cardiothorac Vasc Anesth 2021 Sep;25(3):218-228. doi: 10.1177/10892532211027395. PMID: 34380349
Prenatal Diagnosis and Postnatal Outcome of Fetuses with Pulmonary Atresia and Ventricular Septal Defect.
Gottschalk I, Strizek B, Jehle C, Stressig R, Herberg U, Breuer J, Brockmeier K, Hellmund A, Geipel A, Gembruch U, Berg C
Ultraschall Med 2020 Oct;41(5):514-525. Epub 2019 Jan 7 doi: 10.1055/a-0770-2832. PMID: 30616264
Advances in molecular genetics for pulmonary atresia.
Gao M, He X, Zheng J
Cardiol Young 2017 Mar;27(2):207-216. Epub 2016 Sep 22 doi: 10.1017/S1047951116001487. PMID: 27655138
Role of 64-MDCT in evaluation of pulmonary atresia with ventricular septal defect.
Rajeshkannan R, Moorthy S, Sreekumar KP, Ramachandran PV, Kumar RK, Remadevi KS
AJR Am J Roentgenol 2010 Jan;194(1):110-8. doi: 10.2214/AJR.09.2802. PMID: 20028912
Surgical management of pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals: a protocol-based approach.
Malhotra SP, Hanley FL
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2009:145-51. doi: 10.1053/j.pcsu.2009.01.017. PMID: 19349030

Therapy

Initial Clinical Trial of a Novel Pulmonary Valved Conduit.
Prodan Z, Mroczek T, Sivalingam S, Bennink G, Asch FM, Cox M, Carrel T; Xeltis BV Working Group, Yakub MA, Nagy Z, Skalski J, Svanidze O, Schutte E, Verhees L, Klersy C, Virmani R, Sreeram N
Semin Thorac Cardiovasc Surg 2022 Autumn;34(3):985-991. Epub 2021 May 11 doi: 10.1053/j.semtcvs.2021.03.036. PMID: 33984478
Analysis of achieving an "ideal" outcome following midline unifocalization.
Mainwaring RD, Patrick WL, Rosenblatt TR, Nasirov T, Kamra K, Hanley FL
Asian Cardiovasc Thorac Ann 2019 Jan;27(1):11-17. Epub 2018 Nov 11 doi: 10.1177/0218492318814079. PMID: 30417684
Dental management of pediatric patients affected by pulmonary atresia with ventricular septal defect: A scoping review.
Garrocho-Rangel A, Echavarría-García AC, Rosales-Bérber MA, Flores-Velázquez J, Pozos-Guillén A
Med Oral Patol Oral Cir Bucal 2017 Jul 1;22(4):e458-e466. doi: 10.4317/medoral.21864. PMID: 28624838Free PMC Article
Right Ventricle-to-Pulmonary Artery Shunt in Pulmonary Atresia with a Ventricular Septal Defect: A Word of Caution.
Choi KH, Sung SC, Kim H, Lee HD, Ban GH, Kim G, Ko H
Pediatr Cardiol 2017 Apr;38(4):707-711. Epub 2017 Feb 3 doi: 10.1007/s00246-017-1570-4. PMID: 28154913
Unifocalization for pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries.
Yagihara T, Yamamoto F, Nishigaki K, Matsuki O, Uemura H, Isizaka T, Takahashi O, Kamiya T, Kawashima Y
J Thorac Cardiovasc Surg 1996 Aug;112(2):392-402. doi: 10.1016/s0022-5223(96)70267-2. PMID: 8751508

Prognosis

Perioperative and Anesthetic Considerations in Tetralogy of Fallot With Pulmonary Atresia.
Quinlan CA, Latham GJ, Joffe D, Ross FJ
Semin Cardiothorac Vasc Anesth 2021 Sep;25(3):218-228. doi: 10.1177/10892532211027395. PMID: 34380349
Outcome after surgery for pulmonary atresia with ventricular septal defect, a long-term follow-up study.
Wiezell E, F Gudnason J, Synnergren M, Sunnegårdh J
Acta Paediatr 2021 May;110(5):1610-1619. Epub 2021 Jan 6 doi: 10.1111/apa.15732. PMID: 33351279Free PMC Article
Imaging of Pulmonary Atresia With Ventricular Septal Defect.
Abdel Razek AAK, Al-Marsafawy H, Elmansy M
J Comput Assist Tomogr 2019 Nov/Dec;43(6):906-911. doi: 10.1097/RCT.0000000000000938. PMID: 31738213
Advances in molecular genetics for pulmonary atresia.
Gao M, He X, Zheng J
Cardiol Young 2017 Mar;27(2):207-216. Epub 2016 Sep 22 doi: 10.1017/S1047951116001487. PMID: 27655138
An Overview of Pulmonary Atresia and Major Aortopulmonary Collateral Arteries.
Presnell LB, Blankenship A, Cheatham SL, Owens GE, Staveski SL
World J Pediatr Congenit Heart Surg 2015 Oct;6(4):630-9. doi: 10.1177/2150135115598559. PMID: 26467877

Clinical prediction guides

Clinical significance of diastolic dysfunction on outcomes of pulmonary valve replacement for pulmonary insufficiency.
Tominaga Y, Taira M, Watanabe T, Hasegawa M, Sakaniwa R, Ueno T, Sawa Y
J Thorac Cardiovasc Surg 2022 Oct;164(4):1156-1164. Epub 2022 Feb 2 doi: 10.1016/j.jtcvs.2022.01.038. PMID: 35236624
Fetal pulmonary atresia with ventricular septal defect: Features, associations, and outcome in fetuses with different pulmonary circulation supply types.
Zhou J, Zhou Q, Peng Q, Zhang R, Tang W, Zeng S
Prenat Diagn 2019 Nov;39(12):1047-1053. Epub 2019 Aug 12 doi: 10.1002/pd.5538. PMID: 31351012
Prenatal diagnosis of pulmonary atresia with ventricular septal defect.
Yang SH, Luo PH, Tian XX, Li XY, Li XQ, Yang ZJ, Li SL
J Med Ultrason (2001) 2018 Apr;45(2):341-344. Epub 2017 Jul 27 doi: 10.1007/s10396-017-0809-2. PMID: 28752252
Dental management of pediatric patients affected by pulmonary atresia with ventricular septal defect: A scoping review.
Garrocho-Rangel A, Echavarría-García AC, Rosales-Bérber MA, Flores-Velázquez J, Pozos-Guillén A
Med Oral Patol Oral Cir Bucal 2017 Jul 1;22(4):e458-e466. doi: 10.4317/medoral.21864. PMID: 28624838Free PMC Article
Surgical management of pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals: a protocol-based approach.
Malhotra SP, Hanley FL
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2009:145-51. doi: 10.1053/j.pcsu.2009.01.017. PMID: 19349030

Recent systematic reviews

Coronary-Pulmonary Artery Fistulas: A Systematic Review.
Verdini D, Vargas D, Kuo A, Ghoshhajra B, Kim P, Murillo H, Kirsch J, Lane M, Restrepo C
J Thorac Imaging 2016 Nov;31(6):380-390. doi: 10.1097/RTI.0000000000000232. PMID: 27768631

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