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Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia

MedGen UID:
318651
•Concept ID:
C1832529
•
Disease or Syndrome
Synonym: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED
 
OMIM®: 600376; 601284

Recent clinical studies

Etiology

Sex-biased TGFβ signalling in pulmonary arterial hypertension.
Wits M, Becher C, de Man F, Sanchez-Duffhues G, Goumans MJ
Cardiovasc Res 2023 Oct 24;119(13):2262-2277. doi: 10.1093/cvr/cvad129. PMID: 37595264Free PMC Article
Ammonia Predicts Hepatic Involvement and Pulmonary Hypertension in Patients With Hereditary Hemorrhagic Telangiectasia.
Bloom PP, Rodriguez-Lopez J, Witkin AS, Al-Samkari H, Kuter DJ, Mojtahed A, Luther J
Clin Transl Gastroenterol 2020 Jan;11(1):e00118. doi: 10.14309/ctg.0000000000000118. PMID: 31977452Free PMC Article
Pulmonary vascular complications of hereditary haemorrhagic telangiectasia.
Circo S, Gossage JR
Curr Opin Pulm Med 2014 Sep;20(5):421-8. doi: 10.1097/MCP.0000000000000076. PMID: 25032812
Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease).
Cottin V, Dupuis-Girod S, Lesca G, Cordier JF
Respiration 2007;74(4):361-78. doi: 10.1159/000103205. PMID: 17641482
Genetic basis of pulmonary arterial hypertension: current understanding and future directions.
Newman JH, Trembath RC, Morse JA, Grunig E, Loyd JE, Adnot S, Coccolo F, Ventura C, Phillips JA 3rd, Knowles JA, Janssen B, Eickelberg O, Eddahibi S, Herve P, Nichols WC, Elliott G
J Am Coll Cardiol 2004 Jun 16;43(12 Suppl S):33S-39S. doi: 10.1016/j.jacc.2004.02.028. PMID: 15194176

Diagnosis

The Shunt of It.
Scarpato BM, McDonald J, Bayrak-Toydemir P, Elliott CG, Cahill BC, Emerson LL, Keenan LM
Chest 2023 May;163(5):e201-e205. doi: 10.1016/j.chest.2023.01.020. PMID: 37164583Free PMC Article
The Lung in Hereditary Hemorrhagic Telangiectasia.
Dupuis-Girod S, Cottin V, Shovlin CL
Respiration 2017;94(4):315-330. Epub 2017 Aug 30 doi: 10.1159/000479632. PMID: 28850955
Pulmonary vascular complications of hereditary haemorrhagic telangiectasia.
Circo S, Gossage JR
Curr Opin Pulm Med 2014 Sep;20(5):421-8. doi: 10.1097/MCP.0000000000000076. PMID: 25032812
Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease).
Cottin V, Dupuis-Girod S, Lesca G, Cordier JF
Respiration 2007;74(4):361-78. doi: 10.1159/000103205. PMID: 17641482
Genetics and mediators in pulmonary arterial hypertension.
Austin ED, Loyd JE
Clin Chest Med 2007 Mar;28(1):43-57, vii-viii. doi: 10.1016/j.ccm.2006.11.007. PMID: 17338927Free PMC Article

Therapy

Low Rate of Adverse Events Associated With Inpatient Parenteral Prostacyclins.
Awdish RL, Mendez MP, MacDonald N, Yessayan L, Jennings JH, Albujoq K, Hegab S, Cajigas HR
J Healthc Qual 2017 Sep/Oct;39(5):e84-e90. doi: 10.1097/JHQ.0000000000000053. PMID: 27631708
Pulmonary arterial hypertension associated with hereditary hemorrhagic telangiectasia successfully treated with sildenafil.
Miyake R, Fujino T, Abe K, Hosokawa K, Ohtani K, Morisaki H, Yamada O, Higo T, Ide T
Int J Cardiol 2016 Jul 1;214:275-6. Epub 2016 Mar 31 doi: 10.1016/j.ijcard.2016.03.211. PMID: 27077548
Novel homozygous BMP9 nonsense mutation causes pulmonary arterial hypertension: a case report.
Wang G, Fan R, Ji R, Zou W, Penny DJ, Varghese NP, Fan Y
BMC Pulm Med 2016 Jan 22;16:17. doi: 10.1186/s12890-016-0183-7. PMID: 26801773Free PMC Article
Bevacizumab: an option for refractory epistaxis in hereditary haemorrhagic telangiectasia.
Amann A, Steiner N, Gunsilius E
Wien Klin Wochenschr 2015 Aug;127(15-16):631-4. Epub 2015 May 19 doi: 10.1007/s00508-015-0789-4. PMID: 25986996
Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension.
Chaouat A, Coulet F, Favre C, Simonneau G, Weitzenblum E, Soubrier F, Humbert M
Thorax 2004 May;59(5):446-8. doi: 10.1136/thx.2003.11890. PMID: 15115879Free PMC Article

Prognosis

Ammonia Predicts Hepatic Involvement and Pulmonary Hypertension in Patients With Hereditary Hemorrhagic Telangiectasia.
Bloom PP, Rodriguez-Lopez J, Witkin AS, Al-Samkari H, Kuter DJ, Mojtahed A, Luther J
Clin Transl Gastroenterol 2020 Jan;11(1):e00118. doi: 10.14309/ctg.0000000000000118. PMID: 31977452Free PMC Article
Idiopathic pulmonary hypertension: what did we learn from genes?
Sztrymf B, Yaïci A, Jaïs X, Sitbon O, Simonneau G, Humbert M
Sarcoidosis Vasc Diffuse Lung Dis 2005 Dec;22 Suppl 1:S91-100. PMID: 16457021
Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.
Harrison RE, Flanagan JA, Sankelo M, Abdalla SA, Rowell J, Machado RD, Elliott CG, Robbins IM, Olschewski H, McLaughlin V, Gruenig E, Kermeen F, Halme M, Räisänen-Sokolowski A, Laitinen T, Morrell NW, Trembath RC
J Med Genet 2003 Dec;40(12):865-71. doi: 10.1136/jmg.40.12.865. PMID: 14684682Free PMC Article

Clinical prediction guides

Ammonia Predicts Hepatic Involvement and Pulmonary Hypertension in Patients With Hereditary Hemorrhagic Telangiectasia.
Bloom PP, Rodriguez-Lopez J, Witkin AS, Al-Samkari H, Kuter DJ, Mojtahed A, Luther J
Clin Transl Gastroenterol 2020 Jan;11(1):e00118. doi: 10.14309/ctg.0000000000000118. PMID: 31977452Free PMC Article
Transforming growth factor β--at the centre of systemic sclerosis.
Lafyatis R
Nat Rev Rheumatol 2014 Dec;10(12):706-19. Epub 2014 Aug 19 doi: 10.1038/nrrheum.2014.137. PMID: 25136781
Idiopathic pulmonary hypertension: what did we learn from genes?
Sztrymf B, Yaïci A, Jaïs X, Sitbon O, Simonneau G, Humbert M
Sarcoidosis Vasc Diffuse Lung Dis 2005 Dec;22 Suppl 1:S91-100. PMID: 16457021
Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.
Harrison RE, Flanagan JA, Sankelo M, Abdalla SA, Rowell J, Machado RD, Elliott CG, Robbins IM, Olschewski H, McLaughlin V, Gruenig E, Kermeen F, Halme M, Räisänen-Sokolowski A, Laitinen T, Morrell NW, Trembath RC
J Med Genet 2003 Dec;40(12):865-71. doi: 10.1136/jmg.40.12.865. PMID: 14684682Free PMC Article
Genetics of pulmonary hypertension: from bench to bedside.
Humbert M, Trembath RC
Eur Respir J 2002 Sep;20(3):741-9. doi: 10.1183/09031936.02.02702002. PMID: 12358355

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