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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  
  • CROGVPulmonary 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

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
Neonatal Pulmonary Atresia With Intact Ventricular Septum-8-Year Surgical Experience at One Center.
Guanhua L, Jianzheng C, Gang X, Shusheng W, Jian Z, Jimei C
J Surg Res 2020 Jul;251:38-46. Epub 2020 Feb 26 doi: 10.1016/j.jss.2020.01.017. PMID: 32113036
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
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
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

Diagnosis

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
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
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
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
Evaluation and management of pulmonary atresia with intact ventricular septum.
Bichell DP
Curr Opin Cardiol 1999 Jan;14(1):60-6. doi: 10.1097/00001573-199901000-00010. PMID: 9932209

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
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
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
Balloon valvuloplasty for pulmonary valve stenosis.
Fedderly RT, Beekman RH 3rd
J Interv Cardiol 1995 Oct;8(5):451-61. doi: 10.1111/j.1540-8183.1995.tb00575.x. PMID: 10159512
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

Neonatal Pulmonary Atresia With Intact Ventricular Septum-8-Year Surgical Experience at One Center.
Guanhua L, Jianzheng C, Gang X, Shusheng W, Jian Z, Jimei C
J Surg Res 2020 Jul;251:38-46. Epub 2020 Feb 26 doi: 10.1016/j.jss.2020.01.017. PMID: 32113036
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
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
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

Clinical prediction guides

Pulmonary Atresia with Intact Ventricular Septum: Midterm Outcomes from a Multicenter Cohort.
Iliopoulos I, Mastropietro CW, Flores S, Cheung E, Amula V, Radman M, Kwiatkowski D, Puente BN, Buckley JR, Allen KY, Loomba R, Karki KB, Chiwane S, Cashen K, Piggott K, Kapileshwarkar Y, Gowda KMN, Badheka A, Raman R, Zang H, Costello JM; Collaborative Research from the Pediatric Cardiac Intensive Care Society Investigators
Pediatr Cardiol 2024 Apr;45(4):847-857. Epub 2022 Jun 25 doi: 10.1007/s00246-022-02954-5. PMID: 35751685
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
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
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

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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