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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.
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 intact ventricular septum
Follow this link to review classifications for Pulmonary atresia with intact ventricular septum in Orphanet.

Professional guidelines

PubMed

Chiu SN
Pediatr Neonatol 2024 Jul;65(4):321-322. Epub 2024 Jun 10 doi: 10.1016/j.pedneo.2024.06.001. PMID: 38876898
Alwi M
Catheter Cardiovasc Interv 2006 May;67(5):679-86. doi: 10.1002/ccd.20672. PMID: 16572430
Ellis K, Casarella WJ, Hayes CJ, Gersony WM, Bowman FO Jr, Malm JR
Am J Roentgenol Radium Ther Nucl Med 1972 Nov;116(3):501-13. doi: 10.2214/ajr.116.3.501. PMID: 4641169

Recent clinical studies

Etiology

Cheung EW, Mastropietro CW, Flores S, Amula V, Radman M, Kwiatkowski D, Puente BN, Buckley JR, Allen K, Loomba R, Karki K, Chiwane S, Cashen K, Piggott K, Kapileshwarkar Y, Gowda KMN, Badheka A, Raman R, Costello JM, Zang H, Iliopoulos I; Collaborative Research from the Pediatric Cardiac Intensive Care Society (CoRe-PCICS) Investigators
Ann Thorac Surg 2023 Jun;115(6):1470-1477. Epub 2022 Sep 5 doi: 10.1016/j.athoracsur.2022.07.055. PMID: 36070807
Song H, Chen Z
BMC Cardiovasc Disord 2022 Mar 17;22(1):112. doi: 10.1186/s12872-022-02549-1. PMID: 35300595Free PMC Article
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
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
Takayama H, Sekiguchi A, Chikada M
Ann Thorac Surg 2001 Dec;72(6):2178-9. doi: 10.1016/s0003-4975(01)03104-6. PMID: 11789831

Diagnosis

Senthilvel K
Ultrasound Obstet Gynecol 2023 Dec;62(6):914-917. doi: 10.1002/uog.27443. PMID: 37519150
Fantasia I, Gesuete V, Della Pietà I, Quadrifoglio M, Ottaviani C, Militello R, Stampalija T
J Cardiovasc Med (Hagerstown) 2020 Nov;21(11):917-918. doi: 10.2459/JCM.0000000000000985. PMID: 32482994
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
Ellis K, Casarella WJ, Hayes CJ, Gersony WM, Bowman FO Jr, Malm JR
Am J Roentgenol Radium Ther Nucl Med 1972 Nov;116(3):501-13. doi: 10.2214/ajr.116.3.501. PMID: 4641169
Gamboa R, Gersony WM, Nadas AS
Circulation 1966 Jul;34(1):24-37. doi: 10.1161/01.cir.34.1.24. PMID: 5940240

Therapy

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
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
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
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
Zhang H, Li SJ, Li YQ, Wang H, Hu SS
J Thorac Cardiovasc Surg 2007 Jun;133(6):1654-6. doi: 10.1016/j.jtcvs.2007.02.002. PMID: 17532978

Prognosis

Fantasia I, Gesuete V, Della Pietà I, Quadrifoglio M, Ottaviani C, Militello R, Stampalija T
J Cardiovasc Med (Hagerstown) 2020 Nov;21(11):917-918. doi: 10.2459/JCM.0000000000000985. PMID: 32482994
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
De Stefano D, Li P, Xiang B, Hui P, Zambrano E
Am J Med Genet A 2008 Feb 15;146A(4):525-8. doi: 10.1002/ajmg.a.32160. PMID: 18203206
Bichell DP
Curr Opin Cardiol 1999 Jan;14(1):60-6. doi: 10.1097/00001573-199901000-00010. PMID: 9932209
Trusler GA, Fowler RS
J Thorac Cardiovasc Surg 1970 May;59(5):740-3. PMID: 5439697

Clinical prediction guides

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
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
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
Fantasia I, Gesuete V, Della Pietà I, Quadrifoglio M, Ottaviani C, Militello R, Stampalija T
J Cardiovasc Med (Hagerstown) 2020 Nov;21(11):917-918. doi: 10.2459/JCM.0000000000000985. PMID: 32482994
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

Recent systematic reviews

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
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
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
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
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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