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Heritable pulmonary arterial hypertension

MedGen UID:
90953
•Concept ID:
C0340543
•
Disease or Syndrome
Synonyms: Familial Primary Pulmonary Hypertension; Heritable Pulmonary Arterial Hypertension
SNOMED CT: Heritable pulmonary arterial hypertension (697897003); Familial primary pulmonary hypertension (233944003)
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.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Related genes: SMAD9, KCNK3, CAV1, BMPR2
 
Monarch Initiative: MONDO:0017148
OMIM® Phenotypic series: PS178600
Orphanet: ORPHA275777

Definition

Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal. [from ORDO]

Professional guidelines

PubMed

Genotypes and Phenotypes of Chinese Pediatric Patients With Idiopathic and Heritable Pulmonary Arterial Hypertension-A Single-Center Study.
Zhang HS, Liu Q, Piao CM, Zhu Y, Li QQ, Du J, Gu H
Can J Cardiol 2019 Dec;35(12):1851-1856. Epub 2019 Aug 1 doi: 10.1016/j.cjca.2019.07.628. PMID: 31813511
Treatment of idiopathic/hereditary pulmonary arterial hypertension.
Matsubara H, Ogawa A
J Cardiol 2014 Oct;64(4):243-9. Epub 2014 Jul 28 doi: 10.1016/j.jjcc.2014.06.009. PMID: 25082294
Identification of a new intronic BMPR2-mutation and early diagnosis of heritable pulmonary arterial hypertension in a large family with mean clinical follow-up of 12 years.
Hinderhofer K, Fischer C, Pfarr N, Szamalek-Hoegel J, Lichtblau M, Nagel C, Egenlauf B, Ehlken N, Grünig E
PLoS One 2014;9(3):e91374. Epub 2014 Mar 12 doi: 10.1371/journal.pone.0091374. PMID: 24621962Free PMC Article

Recent clinical studies

Etiology

Deep phenotyping of unaffected carriers of pathogenic BMPR2 variants screened for pulmonary arterial hypertension.
Tóth EN, Celant LR, Niglas M, Jansen S, Tramper J, Baxan N, Ashek A, Wessels JN, Marcus JT, Meijboom LJ, Houweling AC, Nossent EJ, Aman J, Grynblat J, Perros F, Montani D, Vonk Noordegraaf A, Zhao L, de Man FS, Bogaard HJ
Eur Respir J 2024 Oct;64(4) Epub 2024 Oct 3 doi: 10.1183/13993003.00442-2024. PMID: 38991711Free PMC Article
Targeting transforming growth factor-β receptors in pulmonary hypertension.
Guignabert C, Humbert M
Eur Respir J 2021 Feb;57(2) Epub 2021 Feb 4 doi: 10.1183/13993003.02341-2020. PMID: 32817256
Heritable pulmonary hypertension: from bench to bedside.
Girerd B, Weatherald J, Montani D, Humbert M
Eur Respir Rev 2017 Sep 30;26(145) Epub 2017 Sep 6 doi: 10.1183/16000617.0037-2017. PMID: 28877973Free PMC Article
Genetics of pulmonary hypertension in the clinic.
Girerd B, Lau E, Montani D, Humbert M
Curr Opin Pulm Med 2017 Sep;23(5):386-391. doi: 10.1097/MCP.0000000000000414. PMID: 28661905
Definitions and diagnosis of pulmonary hypertension.
Hoeper MM, Bogaard HJ, Condliffe R, Frantz R, Khanna D, Kurzyna M, Langleben D, Manes A, Satoh T, Torres F, Wilkins MR, Badesch DB
J Am Coll Cardiol 2013 Dec 24;62(25 Suppl):D42-50. doi: 10.1016/j.jacc.2013.10.032. PMID: 24355641

Diagnosis

Pulmonary Arterial Hypertension and Hereditary Haemorrhagic Telangiectasia.
Vorselaars VMM, Hosman AE, Westermann CJJ, Snijder RJ, Mager JJ, Goumans MJ, Post MC
Int J Mol Sci 2018 Oct 17;19(10) doi: 10.3390/ijms19103203. PMID: 30336550Free PMC Article
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Gräf S, Haimel M, Bleda M, Hadinnapola C, Southgate L, Li W, Hodgson J, Liu B, Salmon RM, Southwood M, Machado RD, Martin JM, Treacy CM, Yates K, Daugherty LC, Shamardina O, Whitehorn D, Holden S, Aldred M, Bogaard HJ, Church C, Coghlan G, Condliffe R, Corris PA, Danesino C, Eyries M, Gall H, Ghio S, Ghofrani HA, Gibbs JSR, Girerd B, Houweling AC, Howard L, Humbert M, Kiely DG, Kovacs G, MacKenzie Ross RV, Moledina S, Montani D, Newnham M, Olschewski A, Olschewski H, Peacock AJ, Pepke-Zaba J, Prokopenko I, Rhodes CJ, Scelsi L, Seeger W, Soubrier F, Stein DF, Suntharalingam J, Swietlik EM, Toshner MR, van Heel DA, Vonk Noordegraaf A, Waisfisz Q, Wharton J, Wort SJ, Ouwehand WH, Soranzo N, Lawrie A, Upton PD, Wilkins MR, Trembath RC, Morrell NW
Nat Commun 2018 Apr 12;9(1):1416. doi: 10.1038/s41467-018-03672-4. PMID: 29650961Free PMC Article
Heritable pulmonary hypertension: from bench to bedside.
Girerd B, Weatherald J, Montani D, Humbert M
Eur Respir Rev 2017 Sep 30;26(145) Epub 2017 Sep 6 doi: 10.1183/16000617.0037-2017. PMID: 28877973Free PMC Article
Genetics of pulmonary hypertension in the clinic.
Girerd B, Lau E, Montani D, Humbert M
Curr Opin Pulm Med 2017 Sep;23(5):386-391. doi: 10.1097/MCP.0000000000000414. PMID: 28661905
Definitions and diagnosis of pulmonary hypertension.
Hoeper MM, Bogaard HJ, Condliffe R, Frantz R, Khanna D, Kurzyna M, Langleben D, Manes A, Satoh T, Torres F, Wilkins MR, Badesch DB
J Am Coll Cardiol 2013 Dec 24;62(25 Suppl):D42-50. doi: 10.1016/j.jacc.2013.10.032. PMID: 24355641

Therapy

Supplementation with Iron in Pulmonary Arterial Hypertension. Two Randomized Crossover Trials.
Howard LSGE, He J, Watson GMJ, Huang L, Wharton J, Luo Q, Kiely DG, Condliffe R, Pepke-Zaba J, Morrell NW, Sheares KK, Ulrich A, Quan R, Zhao Z, Jing X, An C, Liu Z, Xiong C, Robbins PA, Dawes T, de Marvao A, Rhodes CJ, Richter MJ, Gall H, Ghofrani HA, Zhao L, Huson L, Wilkins MR
Ann Am Thorac Soc 2021 Jun;18(6):981-988. doi: 10.1513/AnnalsATS.202009-1131OC. PMID: 33735594Free PMC Article
Whole-Blood RNA Profiles Associated with Pulmonary Arterial Hypertension and Clinical Outcome.
Rhodes CJ, Otero-Núñez P, Wharton J, Swietlik EM, Kariotis S, Harbaum L, Dunning MJ, Elinoff JM, Errington N, Thompson AAR, Iremonger J, Coghlan JG, Corris PA, Howard LS, Kiely DG, Church C, Pepke-Zaba J, Toshner M, Wort SJ, Desai AA, Humbert M, Nichols WC, Southgate L, Trégouët DA, Trembath RC, Prokopenko I, Gräf S, Morrell NW, Wang D, Lawrie A, Wilkins MR
Am J Respir Crit Care Med 2020 Aug 15;202(4):586-594. doi: 10.1164/rccm.202003-0510OC. PMID: 32352834Free PMC Article
Survival of Japanese Patients With Idiopathic/Heritable Pulmonary Arterial Hypertension.
Ogawa A, Satoh T, Tamura Y, Fukuda K, Matsubara H
Am J Cardiol 2017 May 1;119(9):1479-1484. Epub 2017 Feb 9 doi: 10.1016/j.amjcard.2017.01.015. PMID: 28267959
Combining bosentan and sildenafil in pulmonary arterial hypertension patients failing monotherapy: real-world insights.
Dardi F, Manes A, Palazzini M, Bachetti C, Mazzanti G, Rinaldi A, Albini A, Gotti E, Monti E, Bacchi Reggiani ML, Galiè N
Eur Respir J 2015 Aug;46(2):414-21. Epub 2015 May 28 doi: 10.1183/09031936.00209914. PMID: 26022952
Treatment of idiopathic/hereditary pulmonary arterial hypertension.
Matsubara H, Ogawa A
J Cardiol 2014 Oct;64(4):243-9. Epub 2014 Jul 28 doi: 10.1016/j.jjcc.2014.06.009. PMID: 25082294

Prognosis

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Gräf S, Haimel M, Bleda M, Hadinnapola C, Southgate L, Li W, Hodgson J, Liu B, Salmon RM, Southwood M, Machado RD, Martin JM, Treacy CM, Yates K, Daugherty LC, Shamardina O, Whitehorn D, Holden S, Aldred M, Bogaard HJ, Church C, Coghlan G, Condliffe R, Corris PA, Danesino C, Eyries M, Gall H, Ghio S, Ghofrani HA, Gibbs JSR, Girerd B, Houweling AC, Howard L, Humbert M, Kiely DG, Kovacs G, MacKenzie Ross RV, Moledina S, Montani D, Newnham M, Olschewski A, Olschewski H, Peacock AJ, Pepke-Zaba J, Prokopenko I, Rhodes CJ, Scelsi L, Seeger W, Soubrier F, Stein DF, Suntharalingam J, Swietlik EM, Toshner MR, van Heel DA, Vonk Noordegraaf A, Waisfisz Q, Wharton J, Wort SJ, Ouwehand WH, Soranzo N, Lawrie A, Upton PD, Wilkins MR, Trembath RC, Morrell NW
Nat Commun 2018 Apr 12;9(1):1416. doi: 10.1038/s41467-018-03672-4. PMID: 29650961Free PMC Article
Heritable pulmonary hypertension: from bench to bedside.
Girerd B, Weatherald J, Montani D, Humbert M
Eur Respir Rev 2017 Sep 30;26(145) Epub 2017 Sep 6 doi: 10.1183/16000617.0037-2017. PMID: 28877973Free PMC Article
Genetics of pulmonary hypertension in the clinic.
Girerd B, Lau E, Montani D, Humbert M
Curr Opin Pulm Med 2017 Sep;23(5):386-391. doi: 10.1097/MCP.0000000000000414. PMID: 28661905
Treatment of idiopathic/hereditary pulmonary arterial hypertension.
Matsubara H, Ogawa A
J Cardiol 2014 Oct;64(4):243-9. Epub 2014 Jul 28 doi: 10.1016/j.jjcc.2014.06.009. PMID: 25082294
Definitions and diagnosis of pulmonary hypertension.
Hoeper MM, Bogaard HJ, Condliffe R, Frantz R, Khanna D, Kurzyna M, Langleben D, Manes A, Satoh T, Torres F, Wilkins MR, Badesch DB
J Am Coll Cardiol 2013 Dec 24;62(25 Suppl):D42-50. doi: 10.1016/j.jacc.2013.10.032. PMID: 24355641

Clinical prediction guides

Deep phenotyping of unaffected carriers of pathogenic BMPR2 variants screened for pulmonary arterial hypertension.
Tóth EN, Celant LR, Niglas M, Jansen S, Tramper J, Baxan N, Ashek A, Wessels JN, Marcus JT, Meijboom LJ, Houweling AC, Nossent EJ, Aman J, Grynblat J, Perros F, Montani D, Vonk Noordegraaf A, Zhao L, de Man FS, Bogaard HJ
Eur Respir J 2024 Oct;64(4) Epub 2024 Oct 3 doi: 10.1183/13993003.00442-2024. PMID: 38991711Free PMC Article
Prognostic impact of follow-up pulmonary vascular resistance in pulmonary arterial hypertension.
Suzuki S, Asano R, Aoki T, Nakayama S, Ueda J, Tsuji A, Noguchi T, Ogo T
Open Heart 2022 Jun;9(1) doi: 10.1136/openhrt-2022-002054. PMID: 35675988Free PMC Article
Whole-Blood RNA Profiles Associated with Pulmonary Arterial Hypertension and Clinical Outcome.
Rhodes CJ, Otero-Núñez P, Wharton J, Swietlik EM, Kariotis S, Harbaum L, Dunning MJ, Elinoff JM, Errington N, Thompson AAR, Iremonger J, Coghlan JG, Corris PA, Howard LS, Kiely DG, Church C, Pepke-Zaba J, Toshner M, Wort SJ, Desai AA, Humbert M, Nichols WC, Southgate L, Trégouët DA, Trembath RC, Prokopenko I, Gräf S, Morrell NW, Wang D, Lawrie A, Wilkins MR
Am J Respir Crit Care Med 2020 Aug 15;202(4):586-594. doi: 10.1164/rccm.202003-0510OC. PMID: 32352834Free PMC Article
Heritable pulmonary hypertension: from bench to bedside.
Girerd B, Weatherald J, Montani D, Humbert M
Eur Respir Rev 2017 Sep 30;26(145) Epub 2017 Sep 6 doi: 10.1183/16000617.0037-2017. PMID: 28877973Free PMC Article
Definitions and diagnosis of pulmonary hypertension.
Hoeper MM, Bogaard HJ, Condliffe R, Frantz R, Khanna D, Kurzyna M, Langleben D, Manes A, Satoh T, Torres F, Wilkins MR, Badesch DB
J Am Coll Cardiol 2013 Dec 24;62(25 Suppl):D42-50. doi: 10.1016/j.jacc.2013.10.032. PMID: 24355641

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