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Pulmonary artery hypoplasia

MedGen UID:
75585
Concept ID:
C0265910
Congenital Abnormality
Synonyms: Congenital hypoplasia of pulmonary artery; PAH; pulmonary artery hypoplasia; pulmonary artery hypoplasia (disease); Underdeveloped lung artery; Underdeveloped pulmonary artery; Unilateral Pulmonary Artery Hypoplasia
SNOMED CT: Pulmonary artery hypoplasia (54682008); Congenital hypoplasia of pulmonary artery (54682008)
 
HPO: HP:0004971
Monarch Initiative: MONDO:0020419
Orphanet: ORPHA99083

Definition

Underdevelopment of the pulmonary artery. [from HPO]

Conditions with this feature

Dilated cardiomyopathy 1S
MedGen UID:
371831
Concept ID:
C1834481
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.
Keutel syndrome
MedGen UID:
383722
Concept ID:
C1855607
Disease or Syndrome
Keutel syndrome (KTLS) is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification (summary by Khosroshahi et al., 2014).
Seckel syndrome 9
MedGen UID:
907155
Concept ID:
C4225212
Disease or Syndrome
Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene.
Heterotaxy, visceral, 7, autosomal
MedGen UID:
902629
Concept ID:
C4225217
Disease or Syndrome
Autosomal visceral heterotaxy-7 is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).

Professional guidelines

PubMed

Baerlocher L, Kretschmar O, Harpes P, Arbenz U, Berger F, Knirsch W
Clin Res Cardiol 2008 May;97(5):310-7. Epub 2007 Dec 28 doi: 10.1007/s00392-007-0631-8. PMID: 18491172

Recent clinical studies

Etiology

Gao B, Zhu Z
Eur J Cardiothorac Surg 2022 Jun 15;62(1) doi: 10.1093/ejcts/ezac326. PMID: 35640132
Brink J, MacIver R, Lee MG, Konstantinov IE, Cheung M, Brizard CP, d'Udekem Y
Ann Thorac Surg 2015 Feb;99(2):641-7. Epub 2014 Dec 20 doi: 10.1016/j.athoracsur.2014.09.034. PMID: 25534528
Maeda K, Yamaki S, Yokota M, Murakami A, Takamoto S
J Thorac Cardiovasc Surg 2004 Feb;127(2):448-56. doi: 10.1016/s0022-5223(03)01193-0. PMID: 14762354
Shendge H, Tullu MS, Shenoy A, Chaturvedi R, Kamat JR, Khare M, Joshi A
Indian J Pediatr 2002 Sep;69(9):825-7. doi: 10.1007/BF02723701. PMID: 12420920
Hornberger LK, Sanders SP, Sahn DJ, Rice MJ, Spevak PJ, Benacerraf BR, McDonald RW, Colan SD
J Am Coll Cardiol 1995 Mar 1;25(3):739-45. doi: 10.1016/0735-1097(94)00422-M. PMID: 7860923

Diagnosis

Touil I, Boudawara NK, Bouchareb S, Knani J, Boussoffara L
Pan Afr Med J 2020;36:14. Epub 2020 May 12 doi: 10.11604/pamj.2020.36.14.22539. PMID: 32774591Free PMC Article
Şişli E, Tuncer ON, Şenkaya S, Doğan E, Şahin H, Ayık MF, Atay Y
Pediatr Cardiol 2019 Jan;40(1):38-44. Epub 2018 Aug 18 doi: 10.1007/s00246-018-1958-9. PMID: 30121861
Nitta M, Ozawa S, Oguma J, Kazuno A, Ninomiya Y, Nishi T, Shimada H, Myojin K
Gen Thorac Cardiovasc Surg 2017 Jul;65(7):425-428. Epub 2017 May 2 doi: 10.1007/s11748-017-0780-2. PMID: 28466245
Shendge H, Tullu MS, Shenoy A, Chaturvedi R, Kamat JR, Khare M, Joshi A
Indian J Pediatr 2002 Sep;69(9):825-7. doi: 10.1007/BF02723701. PMID: 12420920
Hornberger LK, Sanders SP, Sahn DJ, Rice MJ, Spevak PJ, Benacerraf BR, McDonald RW, Colan SD
J Am Coll Cardiol 1995 Mar 1;25(3):739-45. doi: 10.1016/0735-1097(94)00422-M. PMID: 7860923

Therapy

Mølgaard-Nielsen D, Pasternak B, Hviid A
N Engl J Med 2013 Aug 29;369(9):830-9. doi: 10.1056/NEJMoa1301066. PMID: 23984730
Kandakure PR, Dharmapuram AK, Ramadoss N, Babu V, Rao IM, Murthy KS
Asian Cardiovasc Thorac Ann 2010 Aug;18(4):368-72. doi: 10.1177/0218492310375856. PMID: 20719789
Honjo O, Tran KC, Hua Z, Sapra P, Alghamdi AA, Russell JL, Caldarone CA, Van Arsdell GS
J Thorac Cardiovasc Surg 2010 Sep;140(3):522-8, 528.e1. doi: 10.1016/j.jtcvs.2010.04.036. PMID: 20621311
Liu XG, Wu KH, Li XF, Shi C, Wang ZY, Tang Z, Shi XQ, Liu YL
J Surg Res 2006 Dec;136(2):320-4. Epub 2006 Oct 23 doi: 10.1016/j.jss.2006.08.024. PMID: 17059834
Reichart B, Gulbins H, Meiser BM, Kur F, Briegel J, Reichenspurner H
Transplantation 2003 Jan 15;75(1):127-32. doi: 10.1097/00007890-200301150-00023. PMID: 12544884

Prognosis

Kavgacı A, Terlemez S, Tunç O, Kula S
Cardiol Young 2023 May;33(5):819-821. Epub 2022 Aug 30 doi: 10.1017/S1047951122002803. PMID: 36039782
Baerlocher L, Kretschmar O, Harpes P, Arbenz U, Berger F, Knirsch W
Clin Res Cardiol 2008 May;97(5):310-7. Epub 2007 Dec 28 doi: 10.1007/s00392-007-0631-8. PMID: 18491172
Atik E, Tanamati C, Kajita L, Barbero-Marcial M
Arq Bras Cardiol 2006 Oct;87(4):423-8. doi: 10.1590/s0066-782x2006001700005. PMID: 17128310
Shendge H, Tullu MS, Shenoy A, Chaturvedi R, Kamat JR, Khare M, Joshi A
Indian J Pediatr 2002 Sep;69(9):825-7. doi: 10.1007/BF02723701. PMID: 12420920
Hornberger LK, Sanders SP, Sahn DJ, Rice MJ, Spevak PJ, Benacerraf BR, McDonald RW, Colan SD
J Am Coll Cardiol 1995 Mar 1;25(3):739-45. doi: 10.1016/0735-1097(94)00422-M. PMID: 7860923

Clinical prediction guides

Şişli E, Tuncer ON, Şenkaya S, Doğan E, Şahin H, Ayık MF, Atay Y
Pediatr Cardiol 2019 Jan;40(1):38-44. Epub 2018 Aug 18 doi: 10.1007/s00246-018-1958-9. PMID: 30121861
Zhang Y, Hua Z, Yang K, Zhang H, Yan J, Wang X, Chu J, Ma K, Li S
Eur J Cardiothorac Surg 2014 Aug;46(2):297-303; discussion 303. Epub 2014 Jan 12 doi: 10.1093/ejcts/ezt622. PMID: 24420372
Honjo O, Tran KC, Hua Z, Sapra P, Alghamdi AA, Russell JL, Caldarone CA, Van Arsdell GS
J Thorac Cardiovasc Surg 2010 Sep;140(3):522-8, 528.e1. doi: 10.1016/j.jtcvs.2010.04.036. PMID: 20621311
Sokol J, Shimizu N, Bohn D, Doherty D, Ryan G, Hornberger LK
Am J Obstet Gynecol 2006 Aug;195(2):470-7. Epub 2006 Jun 13 doi: 10.1016/j.ajog.2006.02.009. PMID: 16777047
Hornberger LK, Sanders SP, Sahn DJ, Rice MJ, Spevak PJ, Benacerraf BR, McDonald RW, Colan SD
J Am Coll Cardiol 1995 Mar 1;25(3):739-45. doi: 10.1016/0735-1097(94)00422-M. PMID: 7860923

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