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Pulmonary arterial hypertension associated with congenital heart disease

MedGen UID:
784385
Concept ID:
C3697119
Disease or Syndrome
Synonym: PAH associated with congenital heart disease
SNOMED CT: Pulmonary arterial hypertension associated with congenital heart disease (697905000)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Orphanet: ORPHA275803

Definition

Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH, see this term), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations (see this term) with left to right cardiac shunts. Eisenmenger syndrome (see this term) is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Pulmonary arterial hypertension associated with congenital heart disease

Professional guidelines

PubMed

Yaylalı YT, Yağmur B, Sinan ÜY, Meriç M, Başarıcı İ, Kılıçkıran Avcı B, Şenol H, Nalbantgil S, Küçükoğlu S, Öngen Z
Anatol J Cardiol 2023 Aug 1;27(8):479-485. Epub 2023 Jun 7 doi: 10.14744/AnatolJCardiol.2023.2885. PMID: 37288853Free PMC Article
Huddleston AJ, Knoderer CA, Morris JL, Ebenroth ES
Pediatr Cardiol 2009 Oct;30(7):871-82. Epub 2009 Aug 25 doi: 10.1007/s00246-009-9523-1. PMID: 19705181
Togănel R, Benedek I, Suteu C, Blesneac C
Rom J Intern Med 2007;45(3):229-34. PMID: 18333354

Recent clinical studies

Etiology

Zeng H, Lan B, Li B, Xie H, Zhao E, Liu X, Xue X, Sun J, Su L, Zhang Y
Respir Res 2024 Aug 17;25(1):313. doi: 10.1186/s12931-024-02932-w. PMID: 39154161Free PMC Article
Ramjug S, Hussain N, Hurdman J, Billings C, Charalampopoulos A, Elliot CA, Sabroe I, Kiely DG, Condliffe R
J Heart Lung Transplant 2016 May;35(5):610-8. Epub 2016 Jan 7 doi: 10.1016/j.healun.2015.12.016. PMID: 26880324
Giannakoulas G, Mouratoglou SA, Gatzoulis MA, Karvounis H
Int J Cardiol 2014 Jul 1;174(3):618-23. Epub 2014 Apr 22 doi: 10.1016/j.ijcard.2014.04.156. PMID: 24814894
D'Alto M, Mahadevan VS
Eur Respir Rev 2012 Dec 1;21(126):328-37. doi: 10.1183/09059180.00004712. PMID: 23204121Free PMC Article
Landzberg MJ
Clin Chest Med 2007 Mar;28(1):243-53, x. doi: 10.1016/j.ccm.2006.12.004. PMID: 17338939

Diagnosis

Xie F, Quan R, Zhang G, Tian H, Chen Y, Yu Z, Zhang C, Liu Y, Zhu X, Wu W, Zhu X, Yang Z, Gu Q, Xiong C, Han H, Cheng Y, He J, Wu Y
J Heart Lung Transplant 2023 Jul;42(7):974-984. Epub 2023 Feb 25 doi: 10.1016/j.healun.2023.02.1494. PMID: 37002152
Brida M, Nashat H, Gatzoulis MA
Curr Opin Pulm Med 2020 Sep;26(5):422-428. doi: 10.1097/MCP.0000000000000695. PMID: 32657834
Gatzoulis MA, Beghetti M, Landzberg MJ, Galiè N
Int J Cardiol 2014 Dec 15;177(2):340-7. Epub 2014 Sep 28 doi: 10.1016/j.ijcard.2014.09.024. PMID: 25443244
Ivy DD, Abman SH, Barst RJ, Berger RM, Bonnet D, Fleming TR, Haworth SG, Raj JU, Rosenzweig EB, Schulze Neick I, Steinhorn RH, Beghetti M
J Am Coll Cardiol 2013 Dec 24;62(25 Suppl):D117-26. doi: 10.1016/j.jacc.2013.10.028. PMID: 24355636
D'Alto M, Mahadevan VS
Eur Respir Rev 2012 Dec 1;21(126):328-37. doi: 10.1183/09059180.00004712. PMID: 23204121Free PMC Article

Therapy

Luna-Lopez R, Segura de la Cal T, Sarnago Cebada F, Martin de Miguel I, Hinojosa W, Cruz-Utrilla A, Velazquez MT, Delgado JF, Mendoza A, Arribas Ynsaurriaga F, Escribano-Subías P
Heart 2024 Feb 12;110(5):346-352. doi: 10.1136/heartjnl-2023-323015. PMID: 37903556
Brida M, Nashat H, Gatzoulis MA
Curr Opin Pulm Med 2020 Sep;26(5):422-428. doi: 10.1097/MCP.0000000000000695. PMID: 32657834
Kuang HY, Wu YH, Yi QJ, Tian J, Wu C, Shou WN, Lu TW
Medicine (Baltimore) 2018 Mar;97(10):e0075. doi: 10.1097/MD.0000000000010075. PMID: 29517668Free PMC Article
Zhang X, Hou HT, Wang J, Liu XC, Yang Q, He GW
Sci Rep 2016 Nov 25;6:36541. doi: 10.1038/srep36541. PMID: 27886187Free PMC Article
D'Alto M, Mahadevan VS
Eur Respir Rev 2012 Dec 1;21(126):328-37. doi: 10.1183/09059180.00004712. PMID: 23204121Free PMC Article

Prognosis

Xie F, Quan R, Zhang G, Tian H, Chen Y, Yu Z, Zhang C, Liu Y, Zhu X, Wu W, Zhu X, Yang Z, Gu Q, Xiong C, Han H, Cheng Y, He J, Wu Y
J Heart Lung Transplant 2023 Jul;42(7):974-984. Epub 2023 Feb 25 doi: 10.1016/j.healun.2023.02.1494. PMID: 37002152
Brida M, Nashat H, Gatzoulis MA
Curr Opin Pulm Med 2020 Sep;26(5):422-428. doi: 10.1097/MCP.0000000000000695. PMID: 32657834
Ramjug S, Hussain N, Hurdman J, Billings C, Charalampopoulos A, Elliot CA, Sabroe I, Kiely DG, Condliffe R
J Heart Lung Transplant 2016 May;35(5):610-8. Epub 2016 Jan 7 doi: 10.1016/j.healun.2015.12.016. PMID: 26880324
Nakanishi T
Int Heart J 2015;56 Suppl:S1-3. doi: 10.1536/ihj.15-064. PMID: 25787791
Ivy DD, Abman SH, Barst RJ, Berger RM, Bonnet D, Fleming TR, Haworth SG, Raj JU, Rosenzweig EB, Schulze Neick I, Steinhorn RH, Beghetti M
J Am Coll Cardiol 2013 Dec 24;62(25 Suppl):D117-26. doi: 10.1016/j.jacc.2013.10.028. PMID: 24355636

Clinical prediction guides

Luna-Lopez R, Segura de la Cal T, Sarnago Cebada F, Martin de Miguel I, Hinojosa W, Cruz-Utrilla A, Velazquez MT, Delgado JF, Mendoza A, Arribas Ynsaurriaga F, Escribano-Subías P
Heart 2024 Feb 12;110(5):346-352. doi: 10.1136/heartjnl-2023-323015. PMID: 37903556
Xie F, Quan R, Zhang G, Tian H, Chen Y, Yu Z, Zhang C, Liu Y, Zhu X, Wu W, Zhu X, Yang Z, Gu Q, Xiong C, Han H, Cheng Y, He J, Wu Y
J Heart Lung Transplant 2023 Jul;42(7):974-984. Epub 2023 Feb 25 doi: 10.1016/j.healun.2023.02.1494. PMID: 37002152
Kuang HY, Wu YH, Yi QJ, Tian J, Wu C, Shou WN, Lu TW
Medicine (Baltimore) 2018 Mar;97(10):e0075. doi: 10.1097/MD.0000000000010075. PMID: 29517668Free PMC Article
Ramjug S, Hussain N, Hurdman J, Billings C, Charalampopoulos A, Elliot CA, Sabroe I, Kiely DG, Condliffe R
J Heart Lung Transplant 2016 May;35(5):610-8. Epub 2016 Jan 7 doi: 10.1016/j.healun.2015.12.016. PMID: 26880324
Giannakoulas G, Mouratoglou SA, Gatzoulis MA, Karvounis H
Int J Cardiol 2014 Jul 1;174(3):618-23. Epub 2014 Apr 22 doi: 10.1016/j.ijcard.2014.04.156. PMID: 24814894

Recent systematic reviews

Kuang HY, Wu YH, Yi QJ, Tian J, Wu C, Shou WN, Lu TW
Medicine (Baltimore) 2018 Mar;97(10):e0075. doi: 10.1097/MD.0000000000010075. PMID: 29517668Free PMC Article
Giannakoulas G, Mouratoglou SA, Gatzoulis MA, Karvounis H
Int J Cardiol 2014 Jul 1;174(3):618-23. Epub 2014 Apr 22 doi: 10.1016/j.ijcard.2014.04.156. PMID: 24814894

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