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Pulmonary venoocclusive disease

MedGen UID:
18769
•Concept ID:
C0034091
•
Disease or Syndrome
Synonyms: Diseases, Pulmonary Veno-Occlusive; Pulmonary Veno Occlusive Disease; Pulmonary Veno-Occlusive Disease; Pulmonary Veno-Occlusive Diseases; Pulmonary Venoocclusive Disease; Pulmonary Venoocclusive Diseases; Veno Occlusive Disease, Pulmonary; Veno-Occlusive Disease, Pulmonary; Veno-Occlusive Diseases, Pulmonary; Venoocclusive Disease, Pulmonary; Venoocclusive Diseases, Pulmonary
SNOMED CT: Pulmonary veno-occlusive disease (89420002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal recessive inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Related genes: EIF2AK4, BMPR2
 
Monarch Initiative: MONDO:0009937
OMIM® Phenotypic series: PS265450
Orphanet: ORPHA31837

Definition

A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Pulmonary venoocclusive disease in Orphanet.

Professional guidelines

PubMed

Diagnosis and management of pulmonary veno-occlusive disease.
Solinas S, Boucly A, Beurnier A, Kularatne M, Grynblat J, Eyries M, Dorfmüller P, Sitbon O, Humbert M, Montani D
Expert Rev Respir Med 2023 Jul-Dec;17(8):635-649. Epub 2023 Aug 21 doi: 10.1080/17476348.2023.2247989. PMID: 37578057
Diagnosis and Treatment of Pulmonary Arterial Hypertension: A Review.
Ruopp NF, Cockrill BA
JAMA 2022 Apr 12;327(14):1379-1391. doi: 10.1001/jama.2022.4402. PMID: 35412560
Epoprostenol for the treatment of pulmonary arterial hypertension.
Cristo Ropero MJ, Cruz-Utrilla A, Escribano-Subias MP
Expert Rev Clin Pharmacol 2021 Aug;14(8):1005-1013. Epub 2021 Jun 7 doi: 10.1080/17512433.2021.1929925. PMID: 34030557

Recent clinical studies

Etiology

Venoocclusive Disease With Both Hepatic and Pulmonary Involvement.
Tissot N, Montani D, Seronde MF, Degano B, Soumagne T
Chest 2020 Apr;157(4):e107-e109. doi: 10.1016/j.chest.2019.11.021. PMID: 32252933
Pulmonary veno-occlusive disease: pathogenesis, risk factors, clinical features and diagnostic algorithm - state of the art.
Szturmowicz M, Kacprzak A, Szołkowska M, Burakowska B, Szczepulska E, Kuś J
Adv Respir Med 2018;86(3) doi: 10.5603/ARM.2018.0021. PMID: 29960280
Early Onset Noninfectious Pulmonary Syndromes after Hematopoietic Cell Transplantation.
Vande Vusse LK, Madtes DK
Clin Chest Med 2017 Jun;38(2):233-248. doi: 10.1016/j.ccm.2016.12.007. PMID: 28477636Free PMC Article
Characteristics of patients with pulmonary venoocclusive disease awaiting transplantation.
Wille KM, Sharma NS, Kulkarni T, Lammi MR, Barney JB, Bellot SC, Cantor RS, Naftel DC, Diaz-Guzman E, McGiffin DC
Ann Am Thorac Soc 2014 Nov;11(9):1411-8. doi: 10.1513/AnnalsATS.201408-354OC. PMID: 25296345Free PMC Article
Pulmonary venoocclusive disease in childhood.
Woerner C, Cutz E, Yoo SJ, Grasemann H, Humpl T
Chest 2014 Jul;146(1):167-174. doi: 10.1378/chest.13-0172. PMID: 24503954

Diagnosis

Characteristics and Long-term Outcomes of Pulmonary Venoocclusive Disease Induced by Mitomycin C.
Certain MC, Chaumais MC, Jaïs X, Savale L, Seferian A, Parent F, Georges M, Favrolt N, Bourdin A, Boissin C, Cottin V, Traclet J, Renard S, Noel V, Picard F, Girerd B, Ghigna MR, Perros F, Sitbon O, Bonniaud P, Humbert M, Montani D
Chest 2021 Mar;159(3):1197-1207. Epub 2020 Sep 24 doi: 10.1016/j.chest.2020.09.238. PMID: 32979348
Venoocclusive Disease With Both Hepatic and Pulmonary Involvement.
Tissot N, Montani D, Seronde MF, Degano B, Soumagne T
Chest 2020 Apr;157(4):e107-e109. doi: 10.1016/j.chest.2019.11.021. PMID: 32252933
Pulmonary veno-occlusive disease: pathogenesis, risk factors, clinical features and diagnostic algorithm - state of the art.
Szturmowicz M, Kacprzak A, Szołkowska M, Burakowska B, Szczepulska E, Kuś J
Adv Respir Med 2018;86(3) doi: 10.5603/ARM.2018.0021. PMID: 29960280
Characteristics of patients with pulmonary venoocclusive disease awaiting transplantation.
Wille KM, Sharma NS, Kulkarni T, Lammi MR, Barney JB, Bellot SC, Cantor RS, Naftel DC, Diaz-Guzman E, McGiffin DC
Ann Am Thorac Soc 2014 Nov;11(9):1411-8. doi: 10.1513/AnnalsATS.201408-354OC. PMID: 25296345Free PMC Article
Pulmonary venoocclusive disease in childhood.
Woerner C, Cutz E, Yoo SJ, Grasemann H, Humpl T
Chest 2014 Jul;146(1):167-174. doi: 10.1378/chest.13-0172. PMID: 24503954

Therapy

Characteristics and Long-term Outcomes of Pulmonary Venoocclusive Disease Induced by Mitomycin C.
Certain MC, Chaumais MC, Jaïs X, Savale L, Seferian A, Parent F, Georges M, Favrolt N, Bourdin A, Boissin C, Cottin V, Traclet J, Renard S, Noel V, Picard F, Girerd B, Ghigna MR, Perros F, Sitbon O, Bonniaud P, Humbert M, Montani D
Chest 2021 Mar;159(3):1197-1207. Epub 2020 Sep 24 doi: 10.1016/j.chest.2020.09.238. PMID: 32979348
Venoocclusive Disease With Both Hepatic and Pulmonary Involvement.
Tissot N, Montani D, Seronde MF, Degano B, Soumagne T
Chest 2020 Apr;157(4):e107-e109. doi: 10.1016/j.chest.2019.11.021. PMID: 32252933
Early Onset Noninfectious Pulmonary Syndromes after Hematopoietic Cell Transplantation.
Vande Vusse LK, Madtes DK
Clin Chest Med 2017 Jun;38(2):233-248. doi: 10.1016/j.ccm.2016.12.007. PMID: 28477636Free PMC Article
Postradiofrequency ablation inflammatory pseudotumor associated with pulmonary venoocclusive disease: case report and review of the literature.
Kovach AE, Cheng GZ, Channick CL, Channick RN, Muniappan A, Gaissert HA, Kradin RL
Ann Diagn Pathol 2013 Oct;17(5):466-9. Epub 2013 Jan 22 doi: 10.1016/j.anndiagpath.2012.11.002. PMID: 23352326
Pulmonary hypertension: CT of the chest in pulmonary venoocclusive disease.
Resten A, Maitre S, Humbert M, Rabiller A, Sitbon O, Capron F, Simonneau G, Musset D
AJR Am J Roentgenol 2004 Jul;183(1):65-70. doi: 10.2214/ajr.183.1.1830065. PMID: 15208112

Prognosis

Characteristics and Long-term Outcomes of Pulmonary Venoocclusive Disease Induced by Mitomycin C.
Certain MC, Chaumais MC, Jaïs X, Savale L, Seferian A, Parent F, Georges M, Favrolt N, Bourdin A, Boissin C, Cottin V, Traclet J, Renard S, Noel V, Picard F, Girerd B, Ghigna MR, Perros F, Sitbon O, Bonniaud P, Humbert M, Montani D
Chest 2021 Mar;159(3):1197-1207. Epub 2020 Sep 24 doi: 10.1016/j.chest.2020.09.238. PMID: 32979348
Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4.
Hernandez-Gonzalez I, Tenorio J, Palomino-Doza J, Martinez Meñaca A, Morales Ruiz R, Lago-Docampo M, Valverde Gomez M, Gomez Roman J, Enguita Valls AB, Perez-Olivares C, Valverde D, Gil Carbonell J, Garrido-Lestache Rodríguez-Monte E, Del Cerro MJ, Lapunzina P, Escribano-Subias P
PLoS One 2020;15(4):e0232216. Epub 2020 Apr 29 doi: 10.1371/journal.pone.0232216. PMID: 32348326Free PMC Article
Characteristics of patients with pulmonary venoocclusive disease awaiting transplantation.
Wille KM, Sharma NS, Kulkarni T, Lammi MR, Barney JB, Bellot SC, Cantor RS, Naftel DC, Diaz-Guzman E, McGiffin DC
Ann Am Thorac Soc 2014 Nov;11(9):1411-8. doi: 10.1513/AnnalsATS.201408-354OC. PMID: 25296345Free PMC Article
Pulmonary venoocclusive disease in childhood.
Woerner C, Cutz E, Yoo SJ, Grasemann H, Humpl T
Chest 2014 Jul;146(1):167-174. doi: 10.1378/chest.13-0172. PMID: 24503954
Pulmonary venoocclusive disease.
Chawla SK, Kittle CF, Faber LP, Jensik RJ
Ann Thorac Surg 1976 Sep;22(3):249-53. doi: 10.1016/s0003-4975(10)64911-9. PMID: 962409

Clinical prediction guides

Characteristics and Long-term Outcomes of Pulmonary Venoocclusive Disease Induced by Mitomycin C.
Certain MC, Chaumais MC, Jaïs X, Savale L, Seferian A, Parent F, Georges M, Favrolt N, Bourdin A, Boissin C, Cottin V, Traclet J, Renard S, Noel V, Picard F, Girerd B, Ghigna MR, Perros F, Sitbon O, Bonniaud P, Humbert M, Montani D
Chest 2021 Mar;159(3):1197-1207. Epub 2020 Sep 24 doi: 10.1016/j.chest.2020.09.238. PMID: 32979348
Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4.
Hernandez-Gonzalez I, Tenorio J, Palomino-Doza J, Martinez Meñaca A, Morales Ruiz R, Lago-Docampo M, Valverde Gomez M, Gomez Roman J, Enguita Valls AB, Perez-Olivares C, Valverde D, Gil Carbonell J, Garrido-Lestache Rodríguez-Monte E, Del Cerro MJ, Lapunzina P, Escribano-Subias P
PLoS One 2020;15(4):e0232216. Epub 2020 Apr 29 doi: 10.1371/journal.pone.0232216. PMID: 32348326Free PMC Article
Physiological mechanisms of pulmonary hypertension.
MacIver DH, Adeniran I, MacIver IR, Revell A, Zhang H
Am Heart J 2016 Oct;180:1-11. Epub 2016 Jul 15 doi: 10.1016/j.ahj.2016.07.003. PMID: 27659877
Characteristics of patients with pulmonary venoocclusive disease awaiting transplantation.
Wille KM, Sharma NS, Kulkarni T, Lammi MR, Barney JB, Bellot SC, Cantor RS, Naftel DC, Diaz-Guzman E, McGiffin DC
Ann Am Thorac Soc 2014 Nov;11(9):1411-8. doi: 10.1513/AnnalsATS.201408-354OC. PMID: 25296345Free PMC Article
Computed tomography findings of pulmonary venoocclusive disease in scleroderma patients presenting with precapillary pulmonary hypertension.
Günther S, Jaïs X, Maitre S, Bérezné A, Dorfmüller P, Seferian A, Savale L, Mercier O, Fadel E, Sitbon O, Mouthon L, Simonneau G, Humbert M, Montani D
Arthritis Rheum 2012 Sep;64(9):2995-3005. doi: 10.1002/art.34501. PMID: 22549387

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