U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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.
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.

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

Gindes L, Salem Y, Gasnier R, Raucher A, Tamir A, Assa S, Weissman-Brenner A, Weisz B, Kasif E, Achiron R
J Matern Fetal Neonatal Med 2022 Dec;35(25):5400-5408. Epub 2021 Feb 1 doi: 10.1080/14767058.2021.1881475. PMID: 33525939
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
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

Recent clinical studies

Etiology

Strobel RJ, Young AM, Kron IL
J Card Surg 2022 Sep;37(9):2651-2652. Epub 2022 Jun 3 doi: 10.1111/jocs.16651. PMID: 35661266Free PMC Article
Onalan MA, Cicek M, Rum M, Yurdakok O, Ozdemir F, Korun O, Altin HF, Erdem H, Yilmaz EH, Aydemir NA, Sasmazel A
J Card Surg 2022 Sep;37(9):2642-2650. Epub 2022 Jun 3 doi: 10.1111/jocs.16656. PMID: 35661255
Quinlan CA, Latham GJ, Joffe D, Ross FJ
Semin Cardiothorac Vasc Anesth 2021 Sep;25(3):218-228. doi: 10.1177/10892532211027395. PMID: 34380349
Lee WY, Kang SR, Im YM, Yun TJ
Pediatr Cardiol 2020 Jun;41(5):1012-1020. Epub 2020 May 6 doi: 10.1007/s00246-020-02352-9. PMID: 32377890Free PMC Article
Gao M, He X, Zheng J
Cardiol Young 2017 Mar;27(2):207-216. Epub 2016 Sep 22 doi: 10.1017/S1047951116001487. PMID: 27655138

Diagnosis

Gindes L, Salem Y, Gasnier R, Raucher A, Tamir A, Assa S, Weissman-Brenner A, Weisz B, Kasif E, Achiron R
J Matern Fetal Neonatal Med 2022 Dec;35(25):5400-5408. Epub 2021 Feb 1 doi: 10.1080/14767058.2021.1881475. PMID: 33525939
Quinlan CA, Latham GJ, Joffe D, Ross FJ
Semin Cardiothorac Vasc Anesth 2021 Sep;25(3):218-228. doi: 10.1177/10892532211027395. PMID: 34380349
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
Gao M, He X, Zheng J
Cardiol Young 2017 Mar;27(2):207-216. Epub 2016 Sep 22 doi: 10.1017/S1047951116001487. PMID: 27655138
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

Therapy

Lacour-Gayet F, Gouton M, Bical O, Lucet V, Roussin R, Leca F
J Thorac Cardiovasc Surg 2022 Feb;163(2):413-423. Epub 2021 May 14 doi: 10.1016/j.jtcvs.2021.04.088. PMID: 34053740
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
Lloyd DFA, Goreczny S, Austin C, Hussain T, Qureshi SA, Rosenthal E, Krasemann T
Pediatr Cardiol 2018 Oct;39(7):1308-1314. Epub 2018 May 9 doi: 10.1007/s00246-018-1895-7. PMID: 29744658Free PMC Article
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
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

Quinlan CA, Latham GJ, Joffe D, Ross FJ
Semin Cardiothorac Vasc Anesth 2021 Sep;25(3):218-228. doi: 10.1177/10892532211027395. PMID: 34380349
Lee WY, Kang SR, Im YM, Yun TJ
Pediatr Cardiol 2020 Jun;41(5):1012-1020. Epub 2020 May 6 doi: 10.1007/s00246-020-02352-9. PMID: 32377890Free PMC Article
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
Gao M, He X, Zheng J
Cardiol Young 2017 Mar;27(2):207-216. Epub 2016 Sep 22 doi: 10.1017/S1047951116001487. PMID: 27655138
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

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
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
Lenoir M, Fouilloux V, Desnous B, Rahmani B, El Gueddari N, Ovaert C, Aries E, El Louali F, Aldebert P, Metras D, Macé L
Cardiol Young 2020 Nov;30(11):1679-1687. Epub 2020 Aug 18 doi: 10.1017/S1047951120002553. PMID: 32808918
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
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

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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...