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Pulmonary artery vasoconstriction

MedGen UID:
357276
Concept ID:
C1867424
Finding
HPO: HP:0005308

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPulmonary artery vasoconstriction

Conditions with this feature

Pulmonary hypertension, primary, 1
MedGen UID:
1643124
Concept ID:
C4552070
Disease or Syndrome
Primary pulmonary arterial hypertension is a rare, often fatal, progressive vascular lung disease characterized by increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure, leading to right ventricular hypertrophy and right heart failure. Pathologic features include a narrowing and thickening of small pulmonary vessels and plexiform lesions. There is pulmonary vascular remodeling of all layers of pulmonary arterial vessels: intimal thickening, smooth muscle cell hypertrophy or hyperplasia, adventitial fibrosis, and occluded vessels by in situ thrombosis (summary by Machado et al., 2009 and Han et al., 2013). Heterozygous mutations in the BMPR2 gene are found in nearly 70% of families with heritable PPH and in 25% of patients with sporadic disease. The disease is more common in women (female:male ratio of 1.7:1). However, the penetrance of PPH1 is incomplete: only about 10 to 20% of individuals with BMPR2 mutations develop the disease during their lifetime, suggesting that development of the disorder is triggered by other genetic or environmental factors. Patients with PPH1 are less likely to respond to acute vasodilater testing and are unlikely to benefit from treatment with calcium channel blockade (summary by Machado et al., 2009 and Han et al., 2013). Genetic Heterogeneity of Primary Pulmonary Hypertension See also PPH2 (615342), caused by mutation in the SMAD9 gene (603295) on chromosome 13q13; PPH3 (615343), caused by mutation in the CAV1 gene (601047) on chromosome 7q31; PPH4 (615344), caused by mutation in the KCNK3 gene (603220) on chromosome 2p23; PPH5 (265400), caused by mutation in the ATP13A3 gene (610232) on chromosome 3q29; and PPH6 (620777), caused by mutation in the CAPNS1 gene (114170) on chromosome 19q13. Primary pulmonary hypertension may also be found in association with hereditary hemorrhagic telangiectasia type 1 (HHT1; 187300), caused by mutation in the ENG gene (131195), and HHT2 (600376), caused by mutation in the ACVRL1 (ALK1) gene (601284). Pediatric-onset pulmonary hypertension may be seen in association with ischiocoxopodopatellar syndrome (ICPPS; 147891). The skeletal manifestations of ICPPS are highly variable and may not be detected in children. Parents are not likely to have PAH (Levy et al., 2016).

Professional guidelines

PubMed

De Backer D, Cecconi M, Chew MS, Hajjar L, Monnet X, Ospina-Tascón GA, Ostermann M, Pinsky MR, Vincent JL
Crit Care 2022 Dec 1;26(1):372. doi: 10.1186/s13054-022-04255-y. PMID: 36457089Free PMC Article
Thenappan T, Ormiston ML, Ryan JJ, Archer SL
BMJ 2018 Mar 14;360:j5492. doi: 10.1136/bmj.j5492. PMID: 29540357Free PMC Article
Gaine SP, Rubin LJ
Lancet 1998 Aug 29;352(9129):719-25. doi: 10.1016/S0140-6736(98)02111-4. PMID: 9729004

Recent clinical studies

Etiology

Guan Z, Shen X, Zhang YJ, Li XG, Gao YF, Tan J, Yuan H, Liu JJ
Medicine (Baltimore) 2018 Jul;97(28):e10908. doi: 10.1097/MD.0000000000010908. PMID: 29995750Free PMC Article
Rivas M, Ratra A, Nugent K
Anatol J Cardiol 2015 Nov;15(11):944-50. doi: 10.5152/AnatolJCardiol.2015.6607. PMID: 26574763Free PMC Article
Yuan A, Yang PC, Lee L, Wu HD, Kuo SH, Luh KT, Chen WJ, Lin FY
Ultrasound Med Biol 2000 Jan;26(1):49-56. doi: 10.1016/s0301-5629(99)00118-0. PMID: 10687792
Porter TR, Taylor DO, Cycan A, Fields J, Bagley CW, Pandian NG, Mohanty PK
J Am Coll Cardiol 1993 Nov 1;22(5):1418-24. doi: 10.1016/0735-1097(93)90552-c. PMID: 8227800
Sugerman HJ, Baron PL, Fairman RP, Evans CR, Vetrovec GW
Ann Surg 1988 May;207(5):604-13. doi: 10.1097/00000658-198805000-00015. PMID: 3377570Free PMC Article

Diagnosis

Guan Z, Shen X, Zhang YJ, Li XG, Gao YF, Tan J, Yuan H, Liu JJ
Medicine (Baltimore) 2018 Jul;97(28):e10908. doi: 10.1097/MD.0000000000010908. PMID: 29995750Free PMC Article
Raevens S, Geerts A, Van Steenkiste C, Verhelst X, Van Vlierberghe H, Colle I
Liver Int 2015 Jun;35(6):1646-60. Epub 2015 Feb 16 doi: 10.1111/liv.12791. PMID: 25627425
Pichler Hefti J, Sonntag D, Hefti U, Risch L, Schoch OD, Turk AJ, Hess T, Bloch KE, Maggiorini M, Merz TM, Weinberger KM, Huber AR
High Alt Med Biol 2013 Sep;14(3):273-9. doi: 10.1089/ham.2012.1110. PMID: 24067187
Morin C, Fortin S, Rousseau E
Am J Hypertens 2012 Jul;25(7):756-63. Epub 2012 Apr 26 doi: 10.1038/ajh.2012.45. PMID: 22534795
Michelakis ED, Weir EK
Am J Med Sci 2001 Apr;321(4):292-9. doi: 10.1097/00000441-200104000-00009. PMID: 11307870

Therapy

Guan Z, Shen X, Zhang YJ, Li XG, Gao YF, Tan J, Yuan H, Liu JJ
Medicine (Baltimore) 2018 Jul;97(28):e10908. doi: 10.1097/MD.0000000000010908. PMID: 29995750Free PMC Article
Raevens S, Geerts A, Van Steenkiste C, Verhelst X, Van Vlierberghe H, Colle I
Liver Int 2015 Jun;35(6):1646-60. Epub 2015 Feb 16 doi: 10.1111/liv.12791. PMID: 25627425
Michelakis ED, Weir EK
Am J Med Sci 2001 Apr;321(4):292-9. doi: 10.1097/00000441-200104000-00009. PMID: 11307870
Sarsam MA, Yonan NA, Deiraniya AK, Rahman AN
J Heart Lung Transplant 1993 May-Jun;12(3):494-8. PMID: 8329424
Porter TR, Taylor DO, Cycan A, Fields J, Bagley CW, Pandian NG, Mohanty PK
J Am Coll Cardiol 1993 Nov 1;22(5):1418-24. doi: 10.1016/0735-1097(93)90552-c. PMID: 8227800

Prognosis

Rivas M, Ratra A, Nugent K
Anatol J Cardiol 2015 Nov;15(11):944-50. doi: 10.5152/AnatolJCardiol.2015.6607. PMID: 26574763Free PMC Article
Raevens S, Geerts A, Van Steenkiste C, Verhelst X, Van Vlierberghe H, Colle I
Liver Int 2015 Jun;35(6):1646-60. Epub 2015 Feb 16 doi: 10.1111/liv.12791. PMID: 25627425
Pichler Hefti J, Sonntag D, Hefti U, Risch L, Schoch OD, Turk AJ, Hess T, Bloch KE, Maggiorini M, Merz TM, Weinberger KM, Huber AR
High Alt Med Biol 2013 Sep;14(3):273-9. doi: 10.1089/ham.2012.1110. PMID: 24067187
Romand JA, Donald FA, Suter PM
New Horiz 1994 Nov;2(4):457-62. PMID: 7804795

Clinical prediction guides

Pichler Hefti J, Sonntag D, Hefti U, Risch L, Schoch OD, Turk AJ, Hess T, Bloch KE, Maggiorini M, Merz TM, Weinberger KM, Huber AR
High Alt Med Biol 2013 Sep;14(3):273-9. doi: 10.1089/ham.2012.1110. PMID: 24067187
Trakada G, Marangos M, Spiropoulos K
Respiration 2001;68(2):134-9. doi: 10.1159/000050482. PMID: 11287826
Porter TR, Taylor DO, Cycan A, Fields J, Bagley CW, Pandian NG, Mohanty PK
J Am Coll Cardiol 1993 Nov 1;22(5):1418-24. doi: 10.1016/0735-1097(93)90552-c. PMID: 8227800

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