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Orphan Lung Diseases pp 191–200Cite as

Pulmonary Vascular Manifestations of Hereditary Hemorrhagic Telangiectasia

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Abstract

Hereditary hemorrhagic telangiectasia is complicated by the presence of pulmonary AVMs in approximately 40 % of cases. Current guidelines recommend screening all HHT patients for pulmonary AVMs, with transthoracic contrast echocardiography, followed by CT chest in echo-positive patients. Preventative treatment of pulmonary AVMs is recommended. We review here the clinical presentations of pulmonary AVMs, the complications and the role for preventative embolization and other precautions.

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Abbreviations

ACVRL1:

Activin-A type II like kinase 1

AVM:

Arteriovenous malformation

BMP-9:

Bone morphogenetic protein

BMPR2:

BMP type II receptor

Eng:

Endoglin

HHT:

Hereditary Hemorrhagic Telangiectasia

HOCF:

High-output cardiac failure

PAH:

Pulmonary arterial hypertension

PH:

Pulmonary hypertension

TGFBR2:

TGF-ß type II receptor

TGF-ß:

Transforming growth factor ß

VEGF:

Vascular endothelial growth factor

VM:

Vascular malformation

References

  1. AAssar OS, Friedman CM, White RI. The natural history of epistaxis in hereditary hemorrhagic telangiectasia. Laryngoscope. 1991;101(9):977–80. doi:10.1288/00005537-199109000-00008.

    Article  CAS  PubMed  Google Scholar 

  2. Al-Saleh S, Mei-Zahav M, Faughnan ME, MacLusky IB, Carpenter S, Letarte M, Ratjen F. Screening for pulmonary and cerebral arteriovenous malformations in children with hereditary haemorrhagic telangiectasia. Eur Respir J. 2009;34(4):875–81. doi:10.1183/09031936.00030009.

    Article  CAS  PubMed  Google Scholar 

  3. Al-Saleh S, Dragulescu A, Manson D, Golding F, Traubici J, Mei-Zahav M, Maclusky IB, et al. Utility of contrast echocardiography for pulmonary arteriovenous malformation screening in pediatric hereditary hemorrhagic telangiectasia. J Pediatr. 2012;160(6):1039–43.e1. doi:10.1016/j.jpeds.2011.11.038.

    Article  PubMed  Google Scholar 

  4. Barzilai B, Waggoner AD, Spessert C, Picus D, Goodenberger D. Two-dimensional contrast echocardiography in the detection and follow-up of congenital pulmonary arteriovenous malformations. Am J Cardiol. 1991;68(15):1507–10. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/1746435.

  5. Bayrak-Toydemir P, McDonald J, Akarsu N, Toydemir RM, Calderon F, Tuncali T, Tang W, et al. A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7. Am J Med Genet A. 2006;140(20):2155–62. Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16969873.

  6. Bayrak-Toydemir P, Mcdonald J, Markewitz B, Lewin S, Miller F, Chou L, Gedge F, et al. Genotype–phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. Am J Med Genet A. 2006;140A(5):463–70. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/16470787.

  7. Bonderman D, Nowotny R, Skoro-Sajer N, Adlbrecht C, Lang IM. Bosentan therapy for pulmonary arterial hypertension associated with hereditary haemorrhagic telangiectasia. Eur J Clin Invest. 2006;36 Suppl 3:71–2. doi:10.1111/j.1365-2362.2006.01683.x.

    Article  PubMed  Google Scholar 

  8. Buonamico P, Suppressa P, Lenato GM, Pasculli G, D’Ovidio F, Memeo M, Scardapane A, et al. Liver involvement in a large cohort of patients with hereditary hemorrhagic telangiectasia: echo-color-Doppler vs multislice computed tomography study. J Hepatol. 2008;48(5):811–20. doi:10.1016/j.jhep.2007.12.022.

    Article  PubMed  Google Scholar 

  9. Buscarini E, Danesino C, Olivieri C, Lupinacci G, De Grazia F, Reduzzi L, Blotta P, et al. Doppler ultrasonographic grading of hepatic vascular malformations in hereditary hemorrhagic telangiectasia – results of extensive screening. Ultraschall Med. 2004;25(5):348–55. doi:10.1055/s-2004-813549.

    Article  CAS  PubMed  Google Scholar 

  10. Buscarini E, Danesino C, Olivieri C, Lupinacci G, Zambelli A. Liver involvement in hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber disease. Dig Liver Dis. 2005;37(9):635–45. doi:10.1016/j.dld.2005.04.010.

    Article  CAS  PubMed  Google Scholar 

  11. Buscarini E, Leandro G, Conte D, Danesino C, Daina E, Manfredi G, Lupinacci G, et al. Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia. Dig Dis Sci. 2011;56(7):2166–78. doi:10.1007/s10620-011-1585-2.

    Article  PubMed Central  PubMed  Google Scholar 

  12. Buscarini E, Plauchu H, Garcia Tsao G, White RI, Sabbà C, Miller F, Saurin JC, et al. Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations. Liver Int. 2006;26(9):​1040–6. doi:10.1111/j.1478-3231.2006.01340.x.

    Article  PubMed  Google Scholar 

  13. Caselitz M, Bahr MJ, Bleck JS, Chavan A, Manns MP, Wagner S, Gebel M. Sonographic criteria for the diagnosis of hepatic involvement in hereditary hemorrhagic telangiectasia (HHT). Hepatology (Baltimore, Md). 2003;37(5):1139–46. doi:10.1053/jhep.2003.50197.

    Article  Google Scholar 

  14. Chadha D, Handa A, Kumar A. Pulmonary hypertension in a patient with hereditary haemorrhagic telangiectasia. BMJ Case Rep. 2013. doi:10.1136/bcr-2012-008352.

    Google Scholar 

  15. Chang S-A, Jang SY, Ki C-S, Kang I-S, Kim D-K. Successful bosentan therapy for pulmonary arterial hypertension associated with hereditary hemorrhagic telangiectasia. Heart Vessels. 2011;26(2):231–4. doi:10.1007/s00380-010-0079-z.

    Article  PubMed  Google Scholar 

  16. Cole SG, Begbie ME, Wallace GM, Shovlin CL. A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5. J Med Genet. 2005;42(7):577–82. Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15994879.

  17. Cottin V, Chinet T, Lavolé A, Corre R, Marchand E, Reynaud-Gaubert M, Plauchu H, et al. Pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: a series of 126 patients. Medicine. 2007;86(1):1–17. doi:10.1097/MD.0b013e31802f8da1.

    Article  PubMed  Google Scholar 

  18. Cottin V, Plauchu H, Bayle JY, Barthelet M, Revel D, Cordier JF. Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. Am J Respir Crit Care Med. 2004;169(9):994–1000. Epub 2004 Jan 23.

    Article  PubMed  Google Scholar 

  19. Curie A, Lesca G, Cottin V, Edery P, Bellon G, Faughnan ME, Plauchu H. Long-term follow-up in 12 children with pulmonary arteriovenous malformations: confirmation of hereditary hemorrhagic telangiectasia in all cases. J Pediatr. 2007;151(3):299–306. Epub 2007 Jul 25.

    Article  PubMed  Google Scholar 

  20. de Gussem EM1, Lausman AY, Beder AJ, Edwards CP, Blanker MH, Terbrugge KG, Mager JJ, Faughnan ME. Outcomes of pregnancy in women with hereditary hemorrhagic telangiectasia. Obstet Gynecol. 2014;123(3):514–20. doi: 10.1097/AOG.0000000000000120. http://www.ncbi.nlm.nih.gov/pubmed/24499751

  21. Dupuis-Girod S, Ginon I, Saurin J. Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output. JAMA. 2012;307(9):5–12. Retrieved from http://jama.ama-assn.org/content/307/9/948.short.

  22. Faughnan ME, Lui YW, Wirth JA, Pugash RA, Redelmeier DA, Hyland RH, White RI Jr. Diffuse pulmonary arteriovenous malformations: characteristics and prognosis. Chest. 2000;117(1):31–8. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10631195.

  23. Faughnan ME, Thabet A, Mei-Zahav M, Colombo M, Maclusky I, Hyland RH, Pugash RA, et al. Pulmonary arteriovenous malformations in children: outcomes of transcatheter embolotherapy. J Pediatr. 2004;145(6):826–31. doi:10.1016/j.jpeds.2004.08.046.

    Article  PubMed  Google Scholar 

  24. Faughnan M, Granton J, Young L. The pulmonary vascular complications of hereditary haemorrhagic telangiectasia. Eur Respir J. 2009;33(5):1186–94. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/19407052.

  25. Faughnan M, Palda V, Garcia-Tsao G, Geisthoff U, Mcdonald J, Proctor D, Spears J, et al. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet. 2011;48(2):73–87. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/19553198.

  26. Galiè N, Hoeper MM, Humbert M, Torbicki A, Vachiery J, Barbera JA, Beghetti M, et al. Guidelines for the diagnosis and treatment of pulmonary hypertension. Eur Respir J. 2009;34(6):1219–63. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/19749199.

  27. Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell G, et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet. 2004;363(9412):852–9. Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15031030.

  28. Gallione CJ, Richards JA, Letteboer TGW, Rushlow D, Prigoda NL, Leedom TP, Ganguly A, et al. SMAD4 mutations found in unselected HHT patients. J Med Genet. 2006;43(10):793–7. doi:10.1136/jmg.2006.041517.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  29. Garcia-Tsao G, Korzenik J, Young L, Henderson KJ, Jain D, Byrd B, Pollak JS, et al. Liver disease in patients with hereditary hemorrhagic telangiectasia. N Engl J Med. 2000;343:931–6.

    Article  CAS  PubMed  Google Scholar 

  30. Gershon AS, Faughnan ME, Chon KS, Pugash RA, Clark JA, Bohan MJ, Henderson KJ, et al. Transcatheter embolotherapy of maternal pulmonary arteriovenous malformations during pregnancy. Chest. 2001;119(2):470–7. Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11171725.

  31. Ginon I, Decullier E, Finet G, Cordier JF, Marion D, Saurin JC, Dupuis-Girod S. Hereditary hemorrhagic telangiectasia, liver vascular malformations and cardiac consequences. Eur J Intern Med. 2013;24(3):e35–9. doi:10.1016/j.ejim.2012.12.013. Epub 2013 Jan 9.

    Article  PubMed  Google Scholar 

  32. Girerd B, Montani D, Coulet F, Sztrymf B, Yaici A, Jaïs X, Tregouet D, et al. Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation. Am J Respir Crit Care Med. 2010;181(8):851–61. doi:10.1164/rccm.200908-1284OC.

    Article  CAS  PubMed  Google Scholar 

  33. Gossage JR, Kanj G. Pulmonary arteriovenous malformations a state of the art review. Crit Care Med. 1998;158:643–61.

    Article  CAS  Google Scholar 

  34. Goumans MJ, Valdimarsdottir G, Itoh S, Lebrin F, Larsson J, Mummery C, Karlsson S, et al. Activin receptor-like kinase (ALK)1 is an antagonistic mediator of lateral TGFbeta/ALK5 signaling. Mol Cell. 2003;12(4):817–28. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/14580334.

  35. Goussous T, Haynes A, Najarian K, Daccarett M, David S. Hereditary hemorrhagic telangiectasia presenting as high output cardiac failure during pregnancy. Cardiol Res Pract. 2009;2009:437237. doi: 10.4061/2009/437237.

  36. Harrison RE, Flanagan JA, Sankelo M, Abdalla SA, Rowell J, Machado RD, Elliott CG, et al. Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. J Med Genet. 2003;40:865–71.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  37. Humbert M, Sitbon O, Chaouat A, Bertocchi M, Habib G, Gressin V, Yaici A, et al. Pulmonary arterial hypertension in France: results from a national registry. Am J Respir Crit Care Med. 2006;173(9):1023–30. doi:10.1164/rccm.200510-1668OC.

    Article  PubMed  Google Scholar 

  38. Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, Stenzel TT, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet. 1996;13(2):189–95. Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=8640225.

  39. Lamouille S, Mallet C, Feige J-J, Bailly S. Activin receptor-like kinase 1 is implicated in the maturation phase of angiogenesis. Blood. 2002;100(13):4495–501. doi:10.1182/blood.V100.13.4495.

    Article  CAS  PubMed  Google Scholar 

  40. Latino G, Witterick I, Faughnan ME. Hereditary hemorrhagic telantiectasia: an underdiagnosed disease? Hematol Rep. 2011;3:A19 [Abstract].

    Google Scholar 

  41. Lebrin F, Goumans MJ, Jonker L, Carvalho R, Valdimarsdottir G, Thorikay M, Mummery C, et al. Endoglin promotes endothelial cell proliferation and TGF-β/ALK1 signal transduction. EMBO J. 2004;23(20):4018–28. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/15385967.

  42. Lerut J, Orlando G, Adam R, Sabbà C, Pfitzmann R, Klempnauer J, Belghiti J, et al. Liver transplantation for hereditary hemorrhagic telangiectasia: report of the European liver transplant registry. Ann Surg. 2006;244(6):854–62. doi:10.1097/01.sla.0000247258.35406.a4; discussion 862–4.

    Article  PubMed Central  PubMed  Google Scholar 

  43. Lesca G, Olivieri C, Burnichon N, Pagella F, Carette M-F, Gilbert-Dussardier B, Goizet C, et al. Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network. Genet Med. 2007;9(1):14–22. doi:10.1097/GIM.0b013e31802d8373.

    Article  PubMed  Google Scholar 

  44. Letourneau-Guillon L, Faughnan ME, Soulez G, Giroux M-F, Oliva VL, Boucher L-M, Dubois J, et al. Embolization of pulmonary arteriovenous malformations with amplatzer vascular plugs: safety and midterm effectiveness. J Vasc Interv Radiol. 2010;21(5):649–56. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/20346701.

  45. Letteboer TGW, Mager JJ, Snijder RJ, Koeleman BPC, Lindhout D, Ploos van Amstel JK, Westermann CJJ. Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia. J Med Genet. 2006;43(4):371–7. doi:10.1136/jmg.2005.035451.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  46. Letteboer TGW, Zewald RA, Kamping EJ, De Haas G, Mager JJ, Snijder RJ, Lindhout D, et al. Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. Hum Genet. 2005;116(1–2):8–16. doi:10.1007/s00439-004-1196-5.

    Article  CAS  PubMed  Google Scholar 

  47. Livneh A, Langevitz P, Morag B, Catania A, Pras M. Functionally reversible hepatic arteriovenous fistulas during pregnancy in patients with hereditary hemorrhagic telangiectasia. South Med J. 1988;81(8):1047–9. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/3406786.

  48. Mager JJ, Overtoom TTC, Blauw H, Lammers JWJ, Westermann CJJ. Embolotherapy of pulmonary arteriovenous malformations: long-term results in 112 patients. J Vasc Interv Radiol. 2004;15(5):451–6. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/15126654.

  49. Mathis S, Dupuis-Girod S, Plauchu H, Giroud M, Barroso B, Ly KH, Ingrand P, et al. Cerebral abscesses in hereditary haemorrhagic telangiectasia: a clinical and microbiological evaluation. Clin Neurol Neurosurg. 2012;114(3):235–40. doi:10.1016/j.clineuro.2011.10.036.

    Article  PubMed  Google Scholar 

  50. McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet. 1994;8(4):345–51. doi:10.1038/ng1294-345.

    Article  CAS  PubMed  Google Scholar 

  51. Moussouttas M, Fayad P, Rosenblatt M, Hashimoto M, Pollak J, Henderson K, Ma TY, et al. Pulmonary arteriovenous malformations: cerebral ischemia and neurologic manifestations. Neurology. 2000;55(7):959–64. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11061251.

  52. Parra JA, Bueno J, Zarauza J, Fariñas-Alvarez C, Cuesta JM, Ortiz P, Zarrabeitia R, et al. Graded contrast echocardiography in pulmonary arteriovenous malformations. Eur Respir J. 2010;35(6):1279–85. doi:10.1183/09031936.00104309.

    Article  CAS  PubMed  Google Scholar 

  53. Pierucci P, Murphy J, Henderson K, Chyun D, White R. New definition and natural history of patients with diffuse pulmonary arteriovenous malformations: twenty-seven-year experience. Chest. 2008;133(3):653–61. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/18198252.

  54. Post MC, Van Gent MW, Plokker HW, Westermann CJ, Kelder JC, Mager JJ, Overtoom TT, et al. Pulmonary arteriovenous malformations associated with migraine with aura. Eur Respir J. 2009;34(4):882–7. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/19324948.

  55. Prigoda NL, Savas S, Abdalla SA, Piovesan B, Rushlow D, Vandezande K, Zhang E, et al. Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations. J Med Genet. 2006;43(9):722–8. doi:10.1136/jmg.2006.042606.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  56. Sabba C, Pasculli G, Lenato GM, Suppressa P, Lastella P, Memeo M, Dicuonzo F, et al. Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers. J Thromb Haemost. 2007;5(6):1149–57. doi:10.1111/j.1538-7836.2007.02531.x. JTH02531 [pii].

    Article  CAS  PubMed  Google Scholar 

  57. Scharpfenecker M, Van Dinther M, Liu Z, Van Bezooijen RL, Zhao Q, Pukac L, Löwik CW, et al. BMP-9 signals via ALK1 and inhibits bFGF-induced endothelial cell proliferation and VEGF-stimulated angiogenesis. J Cell Sci. 2007;120(Pt 6):964–72. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/17311849.

    Article  CAS  PubMed  Google Scholar 

  58. Shovlin C, Jackson J, Bamford K, Jenkins I, Benjamin A, Ramadan H, Kulinskaya E. Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia. Thorax. 2008;63(3):259–66. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/17981912.

  59. Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 2000;91(1):66–7. Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10751092.

  60. Shovlin C, Sodhi V, McCarthy A, Lasjaunias P, Jackson J, Sheppard M. Estimates of maternal risks of pregnancy for women with hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): suggested approach for obstetric services. BJOG. 2008;115(9):1108–15. Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=18518871.

  61. Simonneau G, Robbins IM, Beghetti M, Channick RN, Delcroix M, Denton CP, Elliott CG, et al. Updated clinical classification of pulmonary hypertension. J Am Coll Cardiol. 2009;54(1 Suppl):S43–54. doi:10.1016/j.jacc.2009.04.012.

    Article  PubMed  Google Scholar 

  62. Stabile Ianora AA, Memeo M, Cirulli A, Rotondo A. Radiology hereditary hemorrhagic telangiectasia: multi – detector row helical CT assessment of hepatic involvement 1. Radiology. 2004;230(1):250–9.

    Article  Google Scholar 

  63. Thenganatt J, Schneiderman J, Hyland RH, Edmeads J, Mandzia JL, Faughnan ME. Migraines linked to intrapulmonary right-to-left shunt. Headache. 2006;46(3):439–43. doi:10.1111/j.1526-4610.2006.00291.x.

  64. Trembath R, Thomson JR, Machado RD, Morgan N, Atkinson C, Winship I, Simmonneau G, et al. Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. N Engl J Med. 2001;345(5):325–34.

    Article  CAS  PubMed  Google Scholar 

  65. Gent Van, Marco WF, Post MC, Snijder RJ, Swaans MJ, Plokker HWM, Westermann CJJ, Overtoom TT, et al. Grading of pulmonary right-to-left shunt with transthoracic contrast echocardiography: does it predict the indication for embolotherapy? Chest. 2009;135(5):1288–92. doi:10.1378/chest.08-1266.

    Article  PubMed  Google Scholar 

  66. White I, Mitchell SE, Kaufma L. Angioarchitecture of pulmonary arteriovenous malformations: embolotherapy. AJR Am J Roentgenol. 1983;140(4):681–6.

    Article  PubMed  Google Scholar 

  67. White RI, Lynch-Nyhan A, Terry P, Buescher PC, Farmlett EJ, Charnas L, Shuman K, et al. Pulmonary arteriovenous malformations: techniques and long-term outcome of embolotherapy. Radiology. 1988;169(3):663–9. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/3186989.

  68. Willette RN, Gu JL, Lysko PG, Anderson KM, Minehart H, Yue T. BMP-2 gene expression and effects on human vascular smooth muscle cells. J Vasc Res. 1999;36(2):120–5. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10213907.

  69. Wilson W, Taubert KA, Gewitz M, Lockhart PB, Baddour LM, Levison M, Bolger A, et al. Prevention of infective endocarditis: guidelines from the American Heart Association: a guideline from the American Heart Association Rheumatic Fever, Endocarditis and Kawasaki Disease Committee, Council on Cardiovascular Disease in the Young, and the Council on Clinical Cardiology, Council on Cardiovascular Surgery and Anesthesia, and the Quality of Care and Outcomes Research Interdisciplinary Working Group. J Am Dent Assoc. 2008;​139(Suppl):3S–24. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/18167394.

  70. Wong H, Chan RP, Klatt R, Faughnan ME. Idiopathic pulmonary arteriovenous malformations: clinical and imaging characteristics. Eur Respir J. 2011;38(2):368–75. doi:10.1183/09031936.00075110. Epub 2010 Dec 22.

    Article  CAS  PubMed  Google Scholar 

  71. Yeomans ER, Gilstrap 3rd LC. Physiologic changes in pregnancy and their impact on critical care. Crit Care Med. 2005;33(10 Suppl):S256–8. Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16215345.

  72. Zukotynski K, Chan RP, Chow C-M, Cohen JH, Faughnan ME. Contrast echocardiography grading predicts pulmonary arteriovenous malformations on CT. Chest. 2007;132(1):18–23. doi:10.1378/chest.06-2356.

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Division of Respirology, Department of Internal Medicine, Faculty of Medicine, University of Manitoba, Winnipeg, MB, Canada

    Els M. de Gussem

  2. Division of Respirology, Department of Medicine, Toronto HHT Centre, St. Michael’s Hospital, Toronto, ON, Canada

    Marie E. Faughnan MD, MSc, FRCPC

  3. Keenan Research Centre and the Li Ka Shing Knowledge Institute, St. Michael’s Hospital, Toronto, ON, Canada

    Marie E. Faughnan MD, MSc, FRCPC

  4. Division of Respirology, Department of Medicine, University of Toronto, Toronto, ON, Canada

    Marie E. Faughnan MD, MSc, FRCPC

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  1. Els M. de Gussem
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Correspondence to Marie E. Faughnan MD, MSc, FRCPC .

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Editors and Affiliations

  1. Rare Pulmonary Diseases, Hôpital Louis Pradel, Lyon, France

    Vincent Cottin

  2. Rare Pulmonary Diseases, Hôpital Louis Pradel, Lyon, France

    Jean-Francois Cordier

  3. Respiratory Medicine, University of Southampton, Southampton, United Kingdom

    Luca Richeldi

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de Gussem, E.M., Faughnan, M.E. (2015). Pulmonary Vascular Manifestations of Hereditary Hemorrhagic Telangiectasia. In: Cottin, V., Cordier, JF., Richeldi, L. (eds) Orphan Lung Diseases. Springer, London. https://doi.org/10.1007/978-1-4471-2401-6_12

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  • DOI: https://doi.org/10.1007/978-1-4471-2401-6_12

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