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Idiopathic and/or familial pulmonary arterial hypertension

MedGen UID:
1825946
•Concept ID:
C5679820
•
Disease or Syndrome
Synonym: Idiopathic/heritable pulmonary arterial hypertension
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).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the 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)
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Related genes: ATP13A3, SMAD9, KCNK3, CAV1, BMPR2
 
Orphanet: ORPHA422

Definition

A form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. The majority cases have an identifiable genetic cause, but a significant proportion are idiopathic. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Progressive pulmonary fibrosis: an expert group consensus statement.
Rajan SK, Cottin V, Dhar R, Danoff S, Flaherty KR, Brown KK, Mohan A, Renzoni E, Mohan M, Udwadia Z, Shenoy P, Currow D, Devraj A, Jankharia B, Kulshrestha R, Jones S, Ravaglia C, Quadrelli S, Iyer R, Dhooria S, Kolb M, Wells AU
Eur Respir J 2023 Mar;61(3) Epub 2023 Mar 30 doi: 10.1183/13993003.03187-2021. PMID: 36517177Free PMC Article
Idiopathic Pulmonary Fibrosis (an Update) and Progressive Pulmonary Fibrosis in Adults: An Official ATS/ERS/JRS/ALAT Clinical Practice Guideline.
Raghu G, Remy-Jardin M, Richeldi L, Thomson CC, Inoue Y, Johkoh T, Kreuter M, Lynch DA, Maher TM, Martinez FJ, Molina-Molina M, Myers JL, Nicholson AG, Ryerson CJ, Strek ME, Troy LK, Wijsenbeek M, Mammen MJ, Hossain T, Bissell BD, Herman DD, Hon SM, Kheir F, Khor YH, Macrea M, Antoniou KM, Bouros D, Buendia-Roldan I, Caro F, Crestani B, Ho L, Morisset J, Olson AL, Podolanczuk A, Poletti V, Selman M, Ewing T, Jones S, Knight SL, Ghazipura M, Wilson KC
Am J Respir Crit Care Med 2022 May 1;205(9):e18-e47. doi: 10.1164/rccm.202202-0399ST. PMID: 35486072Free PMC Article
Diagnosis of Idiopathic Pulmonary Fibrosis. An Official ATS/ERS/JRS/ALAT Clinical Practice Guideline.
Raghu G, Remy-Jardin M, Myers JL, Richeldi L, Ryerson CJ, Lederer DJ, Behr J, Cottin V, Danoff SK, Morell F, Flaherty KR, Wells A, Martinez FJ, Azuma A, Bice TJ, Bouros D, Brown KK, Collard HR, Duggal A, Galvin L, Inoue Y, Jenkins RG, Johkoh T, Kazerooni EA, Kitaichi M, Knight SL, Mansour G, Nicholson AG, Pipavath SNJ, Buendía-Roldán I, Selman M, Travis WD, Walsh S, Wilson KC; American Thoracic Society, European Respiratory Society, Japanese Respiratory Society, and Latin American Thoracic Society
Am J Respir Crit Care Med 2018 Sep 1;198(5):e44-e68. doi: 10.1164/rccm.201807-1255ST. PMID: 30168753

Recent clinical studies

Etiology

Treatment of pulmonary arterial hypertension: recent progress and a look to the future.
Humbert M, Sitbon O, Guignabert C, Savale L, Boucly A, Gallant-Dewavrin M, McLaughlin V, Hoeper MM, Weatherald J
Lancet Respir Med 2023 Sep;11(9):804-819. Epub 2023 Aug 14 doi: 10.1016/S2213-2600(23)00264-3. PMID: 37591298
Sotatercept for the treatment of pulmonary arterial hypertension: PULSAR open-label extension.
Humbert M, McLaughlin V, Gibbs JSR, Gomberg-Maitland M, Hoeper MM, Preston IR, Souza R, Waxman AB, Ghofrani HA, Escribano Subias P, Feldman J, Meyer G, Montani D, Olsson KM, Manimaran S, de Oliveira Pena J, Badesch DB
Eur Respir J 2023 Jan;61(1) Epub 2023 Jan 6 doi: 10.1183/13993003.01347-2022. PMID: 36041750Free PMC Article
Pulmonary Artery Denervation for Pulmonary Arterial Hypertension: A Sham-Controlled Randomized PADN-CFDA Trial.
Zhang H, Wei Y, Zhang C, Yang Z, Kan J, Gu H, Fan F, Gu H, Wang Q, Xie D, Zhang G, Guo X, Yin Y, Jin B, Zhou H, Yang Z, Wang Z, Xin Y, Zhang C, Meng L, Wang X, Sun J, Zhao C, Zhang J, Yan X, Chen F, Yao C, Stone GW, Chen SL
JACC Cardiovasc Interv 2022 Dec 12;15(23):2412-2423. Epub 2022 Sep 18 doi: 10.1016/j.jcin.2022.09.013. PMID: 36121246
Idiopathic pulmonary arterial hypertension phenotypes determined by cluster analysis from the COMPERA registry.
Hoeper MM, Pausch C, Grünig E, Klose H, Staehler G, Huscher D, Pittrow D, Olsson KM, Vizza CD, Gall H, Benjamin N, Distler O, Opitz C, Gibbs JSR, Delcroix M, Ghofrani HA, Rosenkranz S, Ewert R, Kaemmerer H, Lange TJ, Kabitz HJ, Skowasch D, Skride A, Jureviciene E, Paleviciute E, Miliauskas S, Claussen M, Behr J, Milger K, Halank M, Wilkens H, Wirtz H, Pfeuffer-Jovic E, Harbaum L, Scholtz W, Dumitrescu D, Bruch L, Coghlan G, Neurohr C, Tsangaris I, Gorenflo M, Scelsi L, Vonk-Noordegraaf A, Ulrich S, Held M
J Heart Lung Transplant 2020 Dec;39(12):1435-1444. Epub 2020 Sep 30 doi: 10.1016/j.healun.2020.09.011. PMID: 33082079
Targeted therapies in pulmonary arterial hypertension.
Montani D, Chaumais MC, Guignabert C, Günther S, Girerd B, Jaïs X, Algalarrondo V, Price LC, Savale L, Sitbon O, Simonneau G, Humbert M
Pharmacol Ther 2014 Feb;141(2):172-91. Epub 2013 Oct 14 doi: 10.1016/j.pharmthera.2013.10.002. PMID: 24134901

Diagnosis

Pulmonary Hypertension: A Contemporary Review.
Johnson S, Sommer N, Cox-Flaherty K, Weissmann N, Ventetuolo CE, Maron BA
Am J Respir Crit Care Med 2023 Sep 1;208(5):528-548. doi: 10.1164/rccm.202302-0327SO. PMID: 37450768Free PMC Article
Systemic Lupus Erythematosus and Pulmonary Hypertension.
Parperis K, Velidakis N, Khattab E, Gkougkoudi E, Kadoglou NPE
Int J Mol Sci 2023 Mar 7;24(6) doi: 10.3390/ijms24065085. PMID: 36982160Free PMC Article
Pulmonary Artery Denervation for Pulmonary Arterial Hypertension: A Sham-Controlled Randomized PADN-CFDA Trial.
Zhang H, Wei Y, Zhang C, Yang Z, Kan J, Gu H, Fan F, Gu H, Wang Q, Xie D, Zhang G, Guo X, Yin Y, Jin B, Zhou H, Yang Z, Wang Z, Xin Y, Zhang C, Meng L, Wang X, Sun J, Zhao C, Zhang J, Yan X, Chen F, Yao C, Stone GW, Chen SL
JACC Cardiovasc Interv 2022 Dec 12;15(23):2412-2423. Epub 2022 Sep 18 doi: 10.1016/j.jcin.2022.09.013. PMID: 36121246
The physiological basis of pulmonary arterial hypertension.
Naeije R, Richter MJ, Rubin LJ
Eur Respir J 2022 Jun;59(6) Epub 2022 Jun 16 doi: 10.1183/13993003.02334-2021. PMID: 34737219Free PMC Article
Idiopathic pulmonary arterial hypertension phenotypes determined by cluster analysis from the COMPERA registry.
Hoeper MM, Pausch C, Grünig E, Klose H, Staehler G, Huscher D, Pittrow D, Olsson KM, Vizza CD, Gall H, Benjamin N, Distler O, Opitz C, Gibbs JSR, Delcroix M, Ghofrani HA, Rosenkranz S, Ewert R, Kaemmerer H, Lange TJ, Kabitz HJ, Skowasch D, Skride A, Jureviciene E, Paleviciute E, Miliauskas S, Claussen M, Behr J, Milger K, Halank M, Wilkens H, Wirtz H, Pfeuffer-Jovic E, Harbaum L, Scholtz W, Dumitrescu D, Bruch L, Coghlan G, Neurohr C, Tsangaris I, Gorenflo M, Scelsi L, Vonk-Noordegraaf A, Ulrich S, Held M
J Heart Lung Transplant 2020 Dec;39(12):1435-1444. Epub 2020 Sep 30 doi: 10.1016/j.healun.2020.09.011. PMID: 33082079

Therapy

Treatment of pulmonary arterial hypertension: recent progress and a look to the future.
Humbert M, Sitbon O, Guignabert C, Savale L, Boucly A, Gallant-Dewavrin M, McLaughlin V, Hoeper MM, Weatherald J
Lancet Respir Med 2023 Sep;11(9):804-819. Epub 2023 Aug 14 doi: 10.1016/S2213-2600(23)00264-3. PMID: 37591298
New Drugs and Therapies in Pulmonary Arterial Hypertension.
Shah AJ, Beckmann T, Vorla M, Kalra DK
Int J Mol Sci 2023 Mar 19;24(6) doi: 10.3390/ijms24065850. PMID: 36982922Free PMC Article
Sotatercept for the treatment of pulmonary arterial hypertension: PULSAR open-label extension.
Humbert M, McLaughlin V, Gibbs JSR, Gomberg-Maitland M, Hoeper MM, Preston IR, Souza R, Waxman AB, Ghofrani HA, Escribano Subias P, Feldman J, Meyer G, Montani D, Olsson KM, Manimaran S, de Oliveira Pena J, Badesch DB
Eur Respir J 2023 Jan;61(1) Epub 2023 Jan 6 doi: 10.1183/13993003.01347-2022. PMID: 36041750Free PMC Article
Pulmonary Artery Denervation for Pulmonary Arterial Hypertension: A Sham-Controlled Randomized PADN-CFDA Trial.
Zhang H, Wei Y, Zhang C, Yang Z, Kan J, Gu H, Fan F, Gu H, Wang Q, Xie D, Zhang G, Guo X, Yin Y, Jin B, Zhou H, Yang Z, Wang Z, Xin Y, Zhang C, Meng L, Wang X, Sun J, Zhao C, Zhang J, Yan X, Chen F, Yao C, Stone GW, Chen SL
JACC Cardiovasc Interv 2022 Dec 12;15(23):2412-2423. Epub 2022 Sep 18 doi: 10.1016/j.jcin.2022.09.013. PMID: 36121246
Immunity and inflammation in pulmonary arterial hypertension: From pathophysiology mechanisms to treatment perspective.
Wang RR, Yuan TY, Wang JM, Chen YC, Zhao JL, Li MT, Fang LH, Du GH
Pharmacol Res 2022 Jun;180:106238. Epub 2022 Apr 30 doi: 10.1016/j.phrs.2022.106238. PMID: 35504356

Prognosis

Progress in the Treatment of Pulmonary Hypertension Associated with Interstitial Lung Disease.
Nathan SD
Am J Respir Crit Care Med 2023 Aug 1;208(3):238-246. doi: 10.1164/rccm.202212-2342CI. PMID: 37159942
COMPERA 2.0: a refined four-stratum risk assessment model for pulmonary arterial hypertension.
Hoeper MM, Pausch C, Olsson KM, Huscher D, Pittrow D, Grünig E, Staehler G, Vizza CD, Gall H, Distler O, Opitz C, Gibbs JSR, Delcroix M, Ghofrani HA, Park DH, Ewert R, Kaemmerer H, Kabitz HJ, Skowasch D, Behr J, Milger K, Halank M, Wilkens H, Seyfarth HJ, Held M, Dumitrescu D, Tsangaris I, Vonk-Noordegraaf A, Ulrich S, Klose H, Claussen M, Lange TJ, Rosenkranz S
Eur Respir J 2022 Jul;60(1) Epub 2022 Jul 7 doi: 10.1183/13993003.02311-2021. PMID: 34737226Free PMC Article
Novel Mechanisms Targeted by Drug Trials in Pulmonary Arterial Hypertension.
Condon DF, Agarwal S, Chakraborty A, Auer N, Vazquez R, Patel H, Zamanian RT, de Jesus Perez VA
Chest 2022 Apr;161(4):1060-1072. Epub 2021 Oct 13 doi: 10.1016/j.chest.2021.10.010. PMID: 34655569Free PMC Article
Mendelian randomisation and experimental medicine approaches to interleukin-6 as a drug target in pulmonary arterial hypertension.
Toshner M, Church C, Harbaum L, Rhodes C, Villar Moreschi SS, Liley J, Jones R, Arora A, Batai K, Desai AA, Coghlan JG, Gibbs JSR, Gor D, Gräf S, Harlow L, Hernandez-Sanchez J, Howard LS, Humbert M, Karnes J, Kiely DG, Kittles R, Knightbridge E, Lam B, Lutz KA, Nichols WC, Pauciulo MW, Pepke-Zaba J, Suntharalingam J, Soubrier F, Trembath RC, Schwantes-An TL, Wort SJ, Wilkins MR, Gaine S, Morrell NW, Corris PA; Uniphy Clinical Trials Network
Eur Respir J 2022 Mar;59(3) Epub 2022 Mar 10 doi: 10.1183/13993003.02463-2020. PMID: 34588193Free PMC Article
Idiopathic pulmonary arterial hypertension phenotypes determined by cluster analysis from the COMPERA registry.
Hoeper MM, Pausch C, Grünig E, Klose H, Staehler G, Huscher D, Pittrow D, Olsson KM, Vizza CD, Gall H, Benjamin N, Distler O, Opitz C, Gibbs JSR, Delcroix M, Ghofrani HA, Rosenkranz S, Ewert R, Kaemmerer H, Lange TJ, Kabitz HJ, Skowasch D, Skride A, Jureviciene E, Paleviciute E, Miliauskas S, Claussen M, Behr J, Milger K, Halank M, Wilkens H, Wirtz H, Pfeuffer-Jovic E, Harbaum L, Scholtz W, Dumitrescu D, Bruch L, Coghlan G, Neurohr C, Tsangaris I, Gorenflo M, Scelsi L, Vonk-Noordegraaf A, Ulrich S, Held M
J Heart Lung Transplant 2020 Dec;39(12):1435-1444. Epub 2020 Sep 30 doi: 10.1016/j.healun.2020.09.011. PMID: 33082079

Clinical prediction guides

Pulmonary Artery Denervation for Pulmonary Arterial Hypertension: A Sham-Controlled Randomized PADN-CFDA Trial.
Zhang H, Wei Y, Zhang C, Yang Z, Kan J, Gu H, Fan F, Gu H, Wang Q, Xie D, Zhang G, Guo X, Yin Y, Jin B, Zhou H, Yang Z, Wang Z, Xin Y, Zhang C, Meng L, Wang X, Sun J, Zhao C, Zhang J, Yan X, Chen F, Yao C, Stone GW, Chen SL
JACC Cardiovasc Interv 2022 Dec 12;15(23):2412-2423. Epub 2022 Sep 18 doi: 10.1016/j.jcin.2022.09.013. PMID: 36121246
Sotatercept analog suppresses inflammation to reverse experimental pulmonary arterial hypertension.
Joshi SR, Liu J, Bloom T, Karaca Atabay E, Kuo TH, Lee M, Belcheva E, Spaits M, Grenha R, Maguire MC, Frost JL, Wang K, Briscoe SD, Alexander MJ, Herrin BR, Castonguay R, Pearsall RS, Andre P, Yu PB, Kumar R, Li G
Sci Rep 2022 May 12;12(1):7803. doi: 10.1038/s41598-022-11435-x. PMID: 35551212Free PMC Article
COMPERA 2.0: a refined four-stratum risk assessment model for pulmonary arterial hypertension.
Hoeper MM, Pausch C, Olsson KM, Huscher D, Pittrow D, Grünig E, Staehler G, Vizza CD, Gall H, Distler O, Opitz C, Gibbs JSR, Delcroix M, Ghofrani HA, Park DH, Ewert R, Kaemmerer H, Kabitz HJ, Skowasch D, Behr J, Milger K, Halank M, Wilkens H, Seyfarth HJ, Held M, Dumitrescu D, Tsangaris I, Vonk-Noordegraaf A, Ulrich S, Klose H, Claussen M, Lange TJ, Rosenkranz S
Eur Respir J 2022 Jul;60(1) Epub 2022 Jul 7 doi: 10.1183/13993003.02311-2021. PMID: 34737226Free PMC Article
Mendelian randomisation and experimental medicine approaches to interleukin-6 as a drug target in pulmonary arterial hypertension.
Toshner M, Church C, Harbaum L, Rhodes C, Villar Moreschi SS, Liley J, Jones R, Arora A, Batai K, Desai AA, Coghlan JG, Gibbs JSR, Gor D, Gräf S, Harlow L, Hernandez-Sanchez J, Howard LS, Humbert M, Karnes J, Kiely DG, Kittles R, Knightbridge E, Lam B, Lutz KA, Nichols WC, Pauciulo MW, Pepke-Zaba J, Suntharalingam J, Soubrier F, Trembath RC, Schwantes-An TL, Wort SJ, Wilkins MR, Gaine S, Morrell NW, Corris PA; Uniphy Clinical Trials Network
Eur Respir J 2022 Mar;59(3) Epub 2022 Mar 10 doi: 10.1183/13993003.02463-2020. PMID: 34588193Free PMC Article
Idiopathic pulmonary arterial hypertension phenotypes determined by cluster analysis from the COMPERA registry.
Hoeper MM, Pausch C, Grünig E, Klose H, Staehler G, Huscher D, Pittrow D, Olsson KM, Vizza CD, Gall H, Benjamin N, Distler O, Opitz C, Gibbs JSR, Delcroix M, Ghofrani HA, Rosenkranz S, Ewert R, Kaemmerer H, Lange TJ, Kabitz HJ, Skowasch D, Skride A, Jureviciene E, Paleviciute E, Miliauskas S, Claussen M, Behr J, Milger K, Halank M, Wilkens H, Wirtz H, Pfeuffer-Jovic E, Harbaum L, Scholtz W, Dumitrescu D, Bruch L, Coghlan G, Neurohr C, Tsangaris I, Gorenflo M, Scelsi L, Vonk-Noordegraaf A, Ulrich S, Held M
J Heart Lung Transplant 2020 Dec;39(12):1435-1444. Epub 2020 Sep 30 doi: 10.1016/j.healun.2020.09.011. PMID: 33082079

Recent systematic reviews

Idiopathic polyhydramnios and pregnancy outcome: systematic review and meta-analysis.
Pagan M, Magann EF, Rabie N, Steelman SC, Hu Z, Ounpraseuth S
Ultrasound Obstet Gynecol 2023 Mar;61(3):302-309. Epub 2023 Feb 6 doi: 10.1002/uog.24973. PMID: 35723677
Application of the Schroth Method in the Treatment of Idiopathic Scoliosis: A Systematic Review and Meta-Analysis.
Dimitrijević V, Šćepanović T, Jevtić N, Rašković B, Milankov V, Milosević Z, Ninković SS, Chockalingam N, Obradović B, Drid P
Int J Environ Res Public Health 2022 Dec 13;19(24) doi: 10.3390/ijerph192416730. PMID: 36554613Free PMC Article
Effects of Schroth method and core stabilization exercises on idiopathic scoliosis: a systematic review and meta-analysis.
Dimitrijević V, Viduka D, Šćepanović T, Maksimović N, Giustino V, Bianco A, Drid P
Eur Spine J 2022 Dec;31(12):3500-3511. Epub 2022 Oct 14 doi: 10.1007/s00586-022-07407-4. PMID: 36229615
Corrective exercise-based therapy for adolescent idiopathic scoliosis: Systematic review and meta-analysis.
Gámiz-Bermúdez F, Obrero-Gaitán E, Zagalaz-Anula N, Lomas-Vega R
Clin Rehabil 2022 May;36(5):597-608. Epub 2021 Dec 28 doi: 10.1177/02692155211070452. PMID: 34962437
Effects of corrective, therapeutic exercise techniques on adolescent idiopathic scoliosis. A systematic review.
Ceballos Laita L, Tejedor Cubillo C, Mingo Gómez T, Jiménez Del Barrio S
Arch Argent Pediatr 2018 Aug 1;116(4):e582-e589. doi: 10.5546/aap.2018.eng.e582. PMID: 30016036

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