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Pulmonary atresia with intact ventricular septum

MedGen UID:
87491
•Concept ID:
C0344975
•
Congenital Abnormality
Synonym: Pulmonary atresia-intact ventricular septum syndrome
SNOMED CT: PAIV - Pulmonary atresia with intact ventricular septum (253590009); Pulmonary atresia with intact ventricular septum (253590009)
 
Monarch Initiative: MONDO:0009931
OMIM®: 265150
Orphanet: ORPHA1208

Definition

A rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. It presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation. [from ORDO]

Clinical features

From HPO
Hypoplastic right heart
MedGen UID:
451017
•Concept ID:
C0265856
•
Disease or Syndrome
Underdevelopment of the right-sided structures of the heart.
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  
  • Pulmonary atresia with intact ventricular septum
Follow this link to review classifications for Pulmonary atresia with intact ventricular septum in Orphanet.

Professional guidelines

PubMed

Utility of Fetal Cardiovascular Magnetic Resonance for Prenatal Diagnosis of Complex Congenital Heart Defects.
Ryd D, Fricke K, Bhat M, Arheden H, Liuba P, Hedström E
JAMA Netw Open 2021 Mar 1;4(3):e213538. doi: 10.1001/jamanetworkopen.2021.3538. PMID: 33779747Free PMC Article
Management algorithm in pulmonary atresia with intact ventricular septum.
Alwi M
Catheter Cardiovasc Interv 2006 May;67(5):679-86. doi: 10.1002/ccd.20672. PMID: 16572430
Comprehensive management of pulmonary atresia with intact ventricular septum.
Rao PS
Ann Thorac Surg 1985 Oct;40(4):409-13. doi: 10.1016/s0003-4975(10)60082-3. PMID: 3901947

Recent clinical studies

Etiology

Prediction of postnatal circulation in pulmonary atresia/critical stenosis with intact ventricular septum: systematic review and external validation of models.
Villalaín C, Moon-Grady AJ, Herberg U, Strainic J, Cohen JL, Shah A, Levi DS, Gómez-Montes E, Herraiz I, Galindo A
Ultrasound Obstet Gynecol 2023 Jul;62(1):14-22. Epub 2023 Jun 5 doi: 10.1002/uog.26176. PMID: 36776132
Type I and II pulmonary atresia with intact ventricular septum in infants: a 10-year experience in initial surgery at one center.
Song H, Chen Z
BMC Cardiovasc Disord 2022 Mar 17;22(1):112. doi: 10.1186/s12872-022-02549-1. PMID: 35300595Free PMC Article
Survival With Respect to Morphology in Pulmonary Atresia and Intact Ventricular Septum in Sweden.
Manhem S, Hanséus K, Berggren H, Ekman-Joelsson BM
World J Pediatr Congenit Heart Surg 2021 Jan;12(1):27-34. doi: 10.1177/2150135120958641. PMID: 33407024
Transcatheter pulmonary valvuloplasty in neonates with pulmonary atresia and intact ventricular septum.
Hascoët S, Borrhomée S, Tahhan N, Petit J, Boet A, Houyel L, Lebret E, Ly M, Roussin R, Belli E, Lambert V, Laux D
Arch Cardiovasc Dis 2019 May;112(5):323-333. Epub 2019 Feb 20 doi: 10.1016/j.acvd.2018.11.015. PMID: 30797733
Discontinuous Pulmonary Artery.
Eltayeb O, Mongé MC, Popescu AR, Sarwark AE, Harris T, Backer CL
World J Pediatr Congenit Heart Surg 2017 Jan;8(1):106-110. Epub 2016 Jun 22 doi: 10.1177/2150135115618871. PMID: 26993757

Diagnosis

Prediction of postnatal circulation in pulmonary atresia/critical stenosis with intact ventricular septum: systematic review and external validation of models.
Villalaín C, Moon-Grady AJ, Herberg U, Strainic J, Cohen JL, Shah A, Levi DS, Gómez-Montes E, Herraiz I, Galindo A
Ultrasound Obstet Gynecol 2023 Jul;62(1):14-22. Epub 2023 Jun 5 doi: 10.1002/uog.26176. PMID: 36776132
Pulmonary atresia with intact ventricular septum: Intended strategies.
Sukhavasi A, McHugh-Grant S, Glatz AC, Mondal A, Griffis H, Burnham N, Chen JM, Mascio CE, Gaynor JW, Spray TL, Fuller SM
J Thorac Cardiovasc Surg 2022 Nov;164(5):1277-1288. Epub 2022 Mar 16 doi: 10.1016/j.jtcvs.2021.11.104. PMID: 35414413
Survival With Respect to Morphology in Pulmonary Atresia and Intact Ventricular Septum in Sweden.
Manhem S, Hanséus K, Berggren H, Ekman-Joelsson BM
World J Pediatr Congenit Heart Surg 2021 Jan;12(1):27-34. doi: 10.1177/2150135120958641. PMID: 33407024
Pulmonary Atresia With an Intact Ventricular Septum: Preoperative Physiology, Imaging, and Management.
Chikkabyrappa SM, Loomba RS, Tretter JT
Semin Cardiothorac Vasc Anesth 2018 Sep;22(3):245-255. Epub 2018 Feb 7 doi: 10.1177/1089253218756757. PMID: 29411679
Discontinuous Pulmonary Artery.
Eltayeb O, Mongé MC, Popescu AR, Sarwark AE, Harris T, Backer CL
World J Pediatr Congenit Heart Surg 2017 Jan;8(1):106-110. Epub 2016 Jun 22 doi: 10.1177/2150135115618871. PMID: 26993757

Therapy

Fetal cardiac interventions: Where do we stand?
Friedman KG, Tworetzky W
Arch Cardiovasc Dis 2020 Feb;113(2):121-128. Epub 2020 Feb 26 doi: 10.1016/j.acvd.2019.06.007. PMID: 32113817
Transcatheter pulmonary valvuloplasty in neonates with pulmonary atresia and intact ventricular septum.
Hascoët S, Borrhomée S, Tahhan N, Petit J, Boet A, Houyel L, Lebret E, Ly M, Roussin R, Belli E, Lambert V, Laux D
Arch Cardiovasc Dis 2019 May;112(5):323-333. Epub 2019 Feb 20 doi: 10.1016/j.acvd.2018.11.015. PMID: 30797733
Right Ventricular Outflow Tract Obstruction: Pulmonary Atresia With Intact Ventricular Septum, Pulmonary Stenosis, and Ebstein's Malformation.
Kwiatkowski DM, Hanley FL, Krawczeski CD
Pediatr Crit Care Med 2016 Aug;17(8 Suppl 1):S323-9. doi: 10.1097/PCC.0000000000000818. PMID: 27490618
Hybrid approach for pulmonary atresia with intact ventricular septum: early single center results and comparison to the standard surgical approach.
Zampi JD, Hirsch-Romano JC, Goldstein BH, Shaya JA, Armstrong AK
Catheter Cardiovasc Interv 2014 Apr 1;83(5):753-61. Epub 2014 Jan 8 doi: 10.1002/ccd.25181. PMID: 23996932
Comprehensive management of pulmonary atresia with intact ventricular septum.
Rao PS
Ann Thorac Surg 1985 Oct;40(4):409-13. doi: 10.1016/s0003-4975(10)60082-3. PMID: 3901947

Prognosis

Prediction of postnatal circulation in pulmonary atresia/critical stenosis with intact ventricular septum: systematic review and external validation of models.
Villalaín C, Moon-Grady AJ, Herberg U, Strainic J, Cohen JL, Shah A, Levi DS, Gómez-Montes E, Herraiz I, Galindo A
Ultrasound Obstet Gynecol 2023 Jul;62(1):14-22. Epub 2023 Jun 5 doi: 10.1002/uog.26176. PMID: 36776132
Survival With Respect to Morphology in Pulmonary Atresia and Intact Ventricular Septum in Sweden.
Manhem S, Hanséus K, Berggren H, Ekman-Joelsson BM
World J Pediatr Congenit Heart Surg 2021 Jan;12(1):27-34. doi: 10.1177/2150135120958641. PMID: 33407024
Pulmonary Atresia With an Intact Ventricular Septum: Preoperative Physiology, Imaging, and Management.
Chikkabyrappa SM, Loomba RS, Tretter JT
Semin Cardiothorac Vasc Anesth 2018 Sep;22(3):245-255. Epub 2018 Feb 7 doi: 10.1177/1089253218756757. PMID: 29411679
Fetal interventions for structural heart disease.
Schidlow DN, Freud L, Friedman K, Tworetzky W
Echocardiography 2017 Dec;34(12):1834-1841. doi: 10.1111/echo.13667. PMID: 29287139
Surgical strategy for pulmonary atresia with intact ventricular septum: initial management and definitive surgery.
Yoshimura N, Yamaguchi M
Gen Thorac Cardiovasc Surg 2009 Jul;57(7):338-46. Epub 2009 Jul 14 doi: 10.1007/s11748-008-0415-8. PMID: 19597923

Clinical prediction guides

Prediction of postnatal circulation in pulmonary atresia/critical stenosis with intact ventricular septum: systematic review and external validation of models.
Villalaín C, Moon-Grady AJ, Herberg U, Strainic J, Cohen JL, Shah A, Levi DS, Gómez-Montes E, Herraiz I, Galindo A
Ultrasound Obstet Gynecol 2023 Jul;62(1):14-22. Epub 2023 Jun 5 doi: 10.1002/uog.26176. PMID: 36776132
Pulmonary atresia with intact ventricular septum: Intended strategies.
Sukhavasi A, McHugh-Grant S, Glatz AC, Mondal A, Griffis H, Burnham N, Chen JM, Mascio CE, Gaynor JW, Spray TL, Fuller SM
J Thorac Cardiovasc Surg 2022 Nov;164(5):1277-1288. Epub 2022 Mar 16 doi: 10.1016/j.jtcvs.2021.11.104. PMID: 35414413
Natural history of pulmonary atresia with intact ventricular septum (PAIVS) and critical pulmonary stenosis (CPS) and prediction of outcome.
Wolter A, Markert N, Wolter JS, Kurkevych A, Degenhardt J, Ritgen J, Stressig R, Enzensberger C, Bedei I, Vorisek C, Schenk J, Graupner O, Khalil M, Thul J, Jux C, Axt-Fliedner R
Arch Gynecol Obstet 2021 Jul;304(1):81-90. Epub 2021 Feb 14 doi: 10.1007/s00404-020-05929-0. PMID: 33585987Free PMC Article
Pulmonary Atresia With an Intact Ventricular Septum: Preoperative Physiology, Imaging, and Management.
Chikkabyrappa SM, Loomba RS, Tretter JT
Semin Cardiothorac Vasc Anesth 2018 Sep;22(3):245-255. Epub 2018 Feb 7 doi: 10.1177/1089253218756757. PMID: 29411679
Optimal Z-Score Use in Surgical Decision-Making in Pulmonary Atresia With Intact Ventricular Septum.
Awori MN, Mehta NP, Mitema FO, Kebba N
World J Pediatr Congenit Heart Surg 2017 May;8(3):385-388. doi: 10.1177/2150135117701407. PMID: 28520535

Recent systematic reviews

Prediction of postnatal circulation in pulmonary atresia/critical stenosis with intact ventricular septum: systematic review and external validation of models.
Villalaín C, Moon-Grady AJ, Herberg U, Strainic J, Cohen JL, Shah A, Levi DS, Gómez-Montes E, Herraiz I, Galindo A
Ultrasound Obstet Gynecol 2023 Jul;62(1):14-22. Epub 2023 Jun 5 doi: 10.1002/uog.26176. PMID: 36776132
Fetal Echocardiographic Predictors of Postnatal Surgical Strategies in Critical Pulmonary Stenosis or Atresia with Intact Ventricular Septum: A Meta-Analysis.
Shivaram P, Van den Eynde J, Barnes BT, Danford DA, Cedars A, Kutty S
Fetal Diagn Ther 2022;49(5-6):225-234. Epub 2022 Jul 6 doi: 10.1159/000525718. PMID: 35793649
Patent Ductus Arteriosus Stent Versus Surgical Aortopulmonary Shunt for Initial Palliation of Cyanotic Congenital Heart Disease with Ductal-Dependent Pulmonary Blood Flow: A Systematic Review and Meta-Analysis.
Tseng SY, Truong VT, Peck D, Kandi S, Brayer S, Jason DP 3rd, Mazur W, Hill GD, Ashfaq A, Goldstein BH, Alsaied T
J Am Heart Assoc 2022 Jul 5;11(13):e024721. Epub 2022 Jun 29 doi: 10.1161/JAHA.121.024721. PMID: 35766251Free PMC Article
Biventricular repair versus uni-ventricular repair for pulmonary atresia with intact ventrical septum: A systematic review.
Li FF, Du XL, Chen S
J Huazhong Univ Sci Technolog Med Sci 2015 Oct;35(5):656-661. Epub 2015 Oct 22 doi: 10.1007/s11596-015-1485-3. PMID: 26489617
Hybrid approach for pulmonary atresia with intact ventricular septum: early single center results and comparison to the standard surgical approach.
Zampi JD, Hirsch-Romano JC, Goldstein BH, Shaya JA, Armstrong AK
Catheter Cardiovasc Interv 2014 Apr 1;83(5):753-61. Epub 2014 Jan 8 doi: 10.1002/ccd.25181. PMID: 23996932

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