Skip to main content
NCBI home page
Thorax logoLink to Thorax
. 1999 Aug;54(8):714–729. doi: 10.1136/thx.54.8.714

Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms

C Shovlin 1, M Letarte 1
PMCID: PMC1745557  PMID: 10413726

Full Text

The Full Text of this article is available as a PDF (252.4 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. ANABTAWI I. N., ELLISON R. G., ELLISON L. T. PULMONARY ARTERIOVENOUS ANEURYSMS AND FISTULAS. ANATOMICAL VARIATIONS, EMBRYOLOGY, AND CLASSIFICATION. Ann Thorac Surg. 1965 May;1:277–285. doi: 10.1016/s0003-4975(10)66755-0. [DOI] [PubMed] [Google Scholar]
  2. Adam P. J., Clesham G. J., Weissberg P. L. Expression of endoglin mRNA and protein in human vascular smooth muscle cells. Biochem Biophys Res Commun. 1998 Jun 9;247(1):33–37. doi: 10.1006/bbrc.1998.8734. [DOI] [PubMed] [Google Scholar]
  3. Andersen P. E., Kjeldsen A. D., Oxhøj H., Vase P., White R. I., Jr Embolotherapy for pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Acta Radiol. 1998 Nov;39(6):723–726. doi: 10.3109/02841859809175505. [DOI] [PubMed] [Google Scholar]
  4. Andrivet P., Lofaso F., Carette M. F., Allegrini J., Adnot S. Haemodynamics and gas exchange before and after coil embolization of pulmonary arteriovenous malformations. Eur Respir J. 1995 Jul;8(7):1228–1230. doi: 10.1183/09031936.95.08071228. [DOI] [PubMed] [Google Scholar]
  5. Assoian R. K., Fleurdelys B. E., Stevenson H. C., Miller P. J., Madtes D. K., Raines E. W., Ross R., Sporn M. B. Expression and secretion of type beta transforming growth factor by activated human macrophages. Proc Natl Acad Sci U S A. 1987 Sep;84(17):6020–6024. doi: 10.1073/pnas.84.17.6020. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Attisano L., Cárcamo J., Ventura F., Weis F. M., Massagué J., Wrana J. L. Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors. Cell. 1993 Nov 19;75(4):671–680. doi: 10.1016/0092-8674(93)90488-c. [DOI] [PubMed] [Google Scholar]
  7. BEAN W. B. Notes on the natural history of vascular spiders in healthy persons. Arch Intern Med. 1960 Jul;106:35–38. doi: 10.1001/archinte.1960.03820010037007. [DOI] [PubMed] [Google Scholar]
  8. BOSHER L. H., Jr, BLAKE D. A., BYRD B. R. An analysis of the pathologic anatomy of pulmonary arteriovenous aneurysms with particular reference to the applicability of local excision. Surgery. 1959 Jan;45(1):91–104. [PubMed] [Google Scholar]
  9. Barbara N. P., Wrana J. L., Letarte M. Endoglin is an accessory protein that interacts with the signaling receptor complex of multiple members of the transforming growth factor-beta superfamily. J Biol Chem. 1999 Jan 8;274(2):584–594. doi: 10.1074/jbc.274.2.584. [DOI] [PubMed] [Google Scholar]
  10. Barth K. H., White R. I., Jr, Kaufman S. L., Terry P. B., Roland J. M. Embolotherapy of pulmonary arteriovenous malformations with detachable balloons. Radiology. 1982 Mar;142(3):599–606. doi: 10.1148/radiology.142.3.7063673. [DOI] [PubMed] [Google Scholar]
  11. Barzilai B., Waggoner A. D., 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 Dec 1;68(15):1507–1510. doi: 10.1016/0002-9149(91)90287-u. [DOI] [PubMed] [Google Scholar]
  12. Bauer T., Britton P., Lomas D., Wight D. G., Friend P. J., Alexander G. J. Liver transplantation for hepatic arteriovenous malformation in hereditary haemorrhagic telangiectasia. J Hepatol. 1995 May;22(5):586–590. doi: 10.1016/0168-8278(95)80455-2. [DOI] [PubMed] [Google Scholar]
  13. Bellón T., Corbí A., Lastres P., Calés C., Cebrián M., Vera S., Cheifetz S., Massague J., Letarte M., Bernabéu C. Identification and expression of two forms of the human transforming growth factor-beta-binding protein endoglin with distinct cytoplasmic regions. Eur J Immunol. 1993 Sep;23(9):2340–2345. doi: 10.1002/eji.1830230943. [DOI] [PubMed] [Google Scholar]
  14. Berg J. N., Gallione C. J., Stenzel T. T., Johnson D. W., Allen W. P., Schwartz C. E., Jackson C. E., Porteous M. E., Marchuk D. A. The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. Am J Hum Genet. 1997 Jul;61(1):60–67. doi: 10.1086/513903. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Berg J. N., Guttmacher A. E., Marchuk D. A., Porteous M. E. Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? J Med Genet. 1996 Mar;33(3):256–257. doi: 10.1136/jmg.33.3.256. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Bjøro K., Schrumpf E., Elgjo K., Kolmanskog F. Monstrous ascites in hereditary haemorrhagic telangiectasia. Scand J Gastroenterol. 1995 Jan;30(1):92–94. doi: 10.3109/00365529509093242. [DOI] [PubMed] [Google Scholar]
  17. Bourgeois N., Delcour C., Deviere J., Francois A., Lambert M., Cremer M., Rickaert F., Lecocq E. Osler-Weber-Rendu disease associated with hepatic involvement and high output heart failure. J Clin Gastroenterol. 1990 Apr;12(2):236–238. [PubMed] [Google Scholar]
  18. Brant A. M., Schachat A. P., White R. I. Ocular manifestations in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease). Am J Ophthalmol. 1989 Jun 15;107(6):642–646. doi: 10.1016/0002-9394(89)90261-4. [DOI] [PubMed] [Google Scholar]
  19. Braverman I. M., Keh A., Jacobson B. S. Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J Invest Dermatol. 1990 Oct;95(4):422–427. doi: 10.1111/1523-1747.ep12555569. [DOI] [PubMed] [Google Scholar]
  20. Braverman I. M., Ken-Yen A. Ultrastructure and three-dimensional reconstruction of several macular and papular telangiectases. J Invest Dermatol. 1983 Dec;81(6):489–497. doi: 10.1111/1523-1747.ep12522736. [DOI] [PubMed] [Google Scholar]
  21. Burke C. M., Safai C., Nelson D. P., Raffin T. A. Pulmonary arteriovenous malformations: a critical update. Am Rev Respir Dis. 1986 Aug;134(2):334–339. doi: 10.1164/arrd.1986.134.2.334. [DOI] [PubMed] [Google Scholar]
  22. Buscarini E., Buscarini L., Civardi G., Arruzzoli S., Bossalini G., Piantanida M. Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: imaging findings. AJR Am J Roentgenol. 1994 Nov;163(5):1105–1110. doi: 10.2214/ajr.163.5.7976883. [DOI] [PubMed] [Google Scholar]
  23. Bühring H. J., Müller C. A., Letarte M., Gougos A., Saalmüller A., van Agthoven A. J., Busch F. W. Endoglin is expressed on a subpopulation of immature erythroid cells of normal human bone marrow. Leukemia. 1991 Oct;5(10):841–847. [PubMed] [Google Scholar]
  24. COOLEY D. A., McNAMARA D. G. Pulmonary telangiectasia: report of case proved by pulmonary biopsy. J Thorac Surg. 1954 Jun;27(6):614–622. [PubMed] [Google Scholar]
  25. Caniggia I., Taylor C. V., Ritchie J. W., Lye S. J., Letarte M. Endoglin regulates trophoblast differentiation along the invasive pathway in human placental villous explants. Endocrinology. 1997 Nov;138(11):4977–4988. doi: 10.1210/endo.138.11.5475. [DOI] [PubMed] [Google Scholar]
  26. Caselitz M., Wagner S., Chavan A., Gebel M., Bleck J. S., Wu A., Schlitt H. J., Galanski M., Manns M. P. Clinical outcome of transfemoral embolisation in patients with arteriovenous malformations of the liver in hereditary haemorrhagic telangiectasia (Weber-Rendu-Osler disease). Gut. 1998 Jan;42(1):123–126. doi: 10.1136/gut.42.1.123. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. Chan P. Antibiotic prophylaxis for patients with hereditary hemorrhagic telangiectasia. J Am Acad Dermatol. 1992 Feb;26(2 Pt 1):282–283. doi: 10.1016/s0190-9622(08)80330-1. [DOI] [PubMed] [Google Scholar]
  28. Cheifetz S., Bellón T., Calés C., Vera S., Bernabeu C., Massagué J., Letarte M. Endoglin is a component of the transforming growth factor-beta receptor system in human endothelial cells. J Biol Chem. 1992 Sep 25;267(27):19027–19030. [PubMed] [Google Scholar]
  29. Childers R. W., Ranniger K., Rabinowitz M. Intrahepatic arteriovenous fistula with pulmonary vascular obstruction in Osler-Rendu-Weber disease. Am J Med. 1967 Aug;43(2):304–312. doi: 10.1016/0002-9343(67)90173-8. [DOI] [PubMed] [Google Scholar]
  30. Chilvers E. R., Peters A. M., George P., Hughes J. M., Allison D. J. Quantification of right to left shunt through pulmonary arteriovenous malformations using 99Tcm albumin microspheres. Clin Radiol. 1988 Nov;39(6):611–614. doi: 10.1016/s0009-9260(88)80065-5. [DOI] [PubMed] [Google Scholar]
  31. Chilvers E. R., Whyte M. K., Jackson J. E., Allison D. J., Hughes J. M. Effect of percutaneous transcatheter embolization on pulmonary function, right-to-left shunt, and arterial oxygenation in patients with pulmonary arteriovenous malformations. Am Rev Respir Dis. 1990 Aug;142(2):420–425. doi: 10.1164/ajrccm/142.2.420. [DOI] [PubMed] [Google Scholar]
  32. Cho A., Courtman D. W., Langille B. L. Apoptosis (programmed cell death) in arteries of the neonatal lamb. Circ Res. 1995 Feb;76(2):168–175. doi: 10.1161/01.res.76.2.168. [DOI] [PubMed] [Google Scholar]
  33. Chow L. T., Chow W. H., Ma K. F. Pulmonary arteriovenous malformation. Progressive enlargement with replacement of the entire right middle lobe in a patient with concomitant mitral stenosis. Med J Aust. 1993 May 3;158(9):632–634. doi: 10.5694/j.1326-5377.1993.tb137637.x. [DOI] [PubMed] [Google Scholar]
  34. Cooke D. A. Renal arteriovenous malformation demonstrated angiographically in hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber disease). J R Soc Med. 1986 Dec;79(12):744–746. doi: 10.1177/014107688607901220. [DOI] [PMC free article] [PubMed] [Google Scholar]
  35. Derynck R., Jarrett J. A., Chen E. Y., Eaton D. H., Bell J. R., Assoian R. K., Roberts A. B., Sporn M. B., Goeddel D. V. Human transforming growth factor-beta complementary DNA sequence and expression in normal and transformed cells. Nature. 1985 Aug 22;316(6030):701–705. doi: 10.1038/316701a0. [DOI] [PubMed] [Google Scholar]
  36. Dickson K., Philip A., Warshawsky H., O'Connor-McCourt M., Bergeron J. J. Specific binding of endocrine transforming growth factor-beta 1 to vascular endothelium. J Clin Invest. 1995 Jun;95(6):2539–2554. doi: 10.1172/JCI117955. [DOI] [PMC free article] [PubMed] [Google Scholar]
  37. Dickson M. C., Martin J. S., Cousins F. M., Kulkarni A. B., Karlsson S., Akhurst R. J. Defective haematopoiesis and vasculogenesis in transforming growth factor-beta 1 knock out mice. Development. 1995 Jun;121(6):1845–1854. doi: 10.1242/dev.121.6.1845. [DOI] [PubMed] [Google Scholar]
  38. Dines D. E., Arms R. A., Bernatz P. E., Gomes M. R. Pulmonary arteriovenous fistulas. Mayo Clin Proc. 1974 Jul;49(7):460–465. [PubMed] [Google Scholar]
  39. Dines D. E., Seward J. B., Bernatz P. E. Pulmonary arteriovenous fistulas. Mayo Clin Proc. 1983 Mar;58(3):176–181. [PubMed] [Google Scholar]
  40. Dutton J. A., Jackson J. E., Hughes J. M., Whyte M. K., Peters A. M., Ussov W., Allison D. J. Pulmonary arteriovenous malformations: results of treatment with coil embolization in 53 patients. AJR Am J Roentgenol. 1995 Nov;165(5):1119–1125. doi: 10.2214/ajr.165.5.7572487. [DOI] [PubMed] [Google Scholar]
  41. Edwards D. R., Murphy G., Reynolds J. J., Whitham S. E., Docherty A. J., Angel P., Heath J. K. Transforming growth factor beta modulates the expression of collagenase and metalloproteinase inhibitor. EMBO J. 1987 Jul;6(7):1899–1904. doi: 10.1002/j.1460-2075.1987.tb02449.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  42. FORKER E. L., BEAN W. B. Retinal arteriovenous aneurysm in hereditary hemorrhagic telangiectasia. Arch Intern Med. 1963 Jun;111:778–783. doi: 10.1001/archinte.1963.03620300098016. [DOI] [PubMed] [Google Scholar]
  43. Ference B. A., Shannon T. M., White R. I., Jr, Zawin M., Burdge C. M. Life-threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia. Chest. 1994 Nov;106(5):1387–1390. doi: 10.1378/chest.106.5.1387. [DOI] [PubMed] [Google Scholar]
  44. Folkman J., D'Amore P. A. Blood vessel formation: what is its molecular basis? Cell. 1996 Dec 27;87(7):1153–1155. doi: 10.1016/s0092-8674(00)81810-3. [DOI] [PubMed] [Google Scholar]
  45. Genovesi M. G., Tierney D. F., Taplin G. V., Eisenberg H. An intravenous radionuclide method to evaluate hypoxemia caused by abnormal alveolar vessels. Limitation of conventional techniques. Am Rev Respir Dis. 1976 Jul;114(1):59–65. doi: 10.1164/arrd.1976.114.1.59. [DOI] [PubMed] [Google Scholar]
  46. Gomes M. R., Bernatz P. E., Dines D. E. Pulmonary arteriovenous fistulas. Ann Thorac Surg. 1969 Jun;7(6):582–593. doi: 10.1016/s0003-4975(10)66398-9. [DOI] [PubMed] [Google Scholar]
  47. Gougos A., Letarte M. Identification of a human endothelial cell antigen with monoclonal antibody 44G4 produced against a pre-B leukemic cell line. J Immunol. 1988 Sep 15;141(6):1925–1933. [PubMed] [Google Scholar]
  48. Gougos A., Letarte M. Primary structure of endoglin, an RGD-containing glycoprotein of human endothelial cells. J Biol Chem. 1990 May 25;265(15):8361–8364. [PubMed] [Google Scholar]
  49. Graf C. J., Perret G. E., Torner J. C. Bleeding from cerebral arteriovenous malformations as part of their natural history. J Neurosurg. 1983 Mar;58(3):331–337. doi: 10.3171/jns.1983.58.3.0331. [DOI] [PubMed] [Google Scholar]
  50. Gutierrez F. R., Glazer H. S., Levitt R. G., Moran J. F. NMR imaging of pulmonary arteriovenous fistulae . J Comput Assist Tomogr. 1984 Aug;8(4):750–752. doi: 10.1097/00004728-198408000-00030. [DOI] [PubMed] [Google Scholar]
  51. Guttmacher A. E., Marchuk D. A., White R. I., Jr Hereditary hemorrhagic telangiectasia. N Engl J Med. 1995 Oct 5;333(14):918–924. doi: 10.1056/NEJM199510053331407. [DOI] [PubMed] [Google Scholar]
  52. Guttmacher A. E., McKinnon W. C., Upton M. D. Hereditary hemorrhagic telangiectasia: a disorder in search of the genetics community. Am J Med Genet. 1994 Aug 15;52(2):252–253. doi: 10.1002/ajmg.1320520232. [DOI] [PubMed] [Google Scholar]
  53. Göthlin J. H., Nordgård K., Jonsson K., Nyman U. Hepatic telangiectasia in Osler's disease treated with arterial embolization. Report of 2 cases. Eur J Radiol. 1982 Feb;2(1):27–30. [PubMed] [Google Scholar]
  54. HALES M. R. Multiple small arteriovenous fistulae of the lungs. Am J Pathol. 1956 Sep-Oct;32(5):927–943. [PMC free article] [PubMed] [Google Scholar]
  55. Haitjema T. J., Overtoom T. T., Westermann C. J., Lammers J. W. Embolisation of pulmonary arteriovenous malformations: results and follow up in 32 patients. Thorax. 1995 Jul;50(7):719–723. doi: 10.1136/thx.50.7.719. [DOI] [PMC free article] [PubMed] [Google Scholar]
  56. Haitjema T., Disch F., Overtoom T. T., Westermann C. J., Lammers J. W. Screening family members of patients with hereditary hemorrhagic telangiectasia. Am J Med. 1995 Nov;99(5):519–524. doi: 10.1016/s0002-9343(99)80229-0. [DOI] [PubMed] [Google Scholar]
  57. Haitjema T., Westermann C. J., Overtoom T. T., Timmer R., Disch F., Mauser H., Lammers J. W. Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease): new insights in pathogenesis, complications, and treatment. Arch Intern Med. 1996 Apr 8;156(7):714–719. [PubMed] [Google Scholar]
  58. Halbsguth A., Schulze W., Ungeheuer E., Höer P. W. Pitfall in the CT diagnosis of pulmonary arteriovenous malformation. J Comput Assist Tomogr. 1983 Aug;7(4):710–712. doi: 10.1097/00004728-198308000-00025. [DOI] [PubMed] [Google Scholar]
  59. Halpern M., Turner A. F., Citron B. P. Hereditary hemorrhagic telangiectasia. An angiographic study of abdominal visceral angiodysplasias associated with gastrointestinal hemorrhage. Radiology. 1968 Jun;90(6):1143–1149. doi: 10.1148/90.6.1143. [DOI] [PubMed] [Google Scholar]
  60. Hartnell G. G., Allison D. J. Coil embolization in the treatment of pulmonary arteriovenous malformations. J Thorac Imaging. 1989 Jan;4(1):81–85. doi: 10.1097/00005382-198901000-00014. [DOI] [PubMed] [Google Scholar]
  61. Heldin C. H., Miyazono K., ten Dijke P. TGF-beta signalling from cell membrane to nucleus through SMAD proteins. Nature. 1997 Dec 4;390(6659):465–471. doi: 10.1038/37284. [DOI] [PubMed] [Google Scholar]
  62. Heutink P., Haitjema T., Breedveld G. J., Janssen B., Sandkuijl L. A., Bontekoe C. J., Westerman C. J., Oostra B. A. Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity. J Med Genet. 1994 Dec;31(12):933–936. doi: 10.1136/jmg.31.12.933. [DOI] [PMC free article] [PubMed] [Google Scholar]
  63. Hieshima G. B., Cahan L. D., Berlin M. S., Pribram H. W. Calvarial, orbital and dural vascular anomalies in hereditary hemorrhagic telangiectasia. Surg Neurol. 1977 Oct;8(4):263–267. [PubMed] [Google Scholar]
  64. Higgins C. B., Wexler L. Clinical and angiographic features of pulmonary arteriovenous fistulas in children. Radiology. 1976 Apr;119(1):171–175. doi: 10.1148/119.1.171. [DOI] [PubMed] [Google Scholar]
  65. Hughes J. M., Allison D. J. Pulmonary arteriovenous malformations: the radiologist replaces the surgeon. Clin Radiol. 1990 May;41(5):297–298. doi: 10.1016/s0009-9260(05)81687-3. [DOI] [PubMed] [Google Scholar]
  66. Hughes J. M. Intrapulmonary shunts: coils to transplantation. J R Coll Physicians Lond. 1994 May-Jun;28(3):247–253. [PMC free article] [PubMed] [Google Scholar]
  67. Ignotz R. A., Endo T., Massagué J. Regulation of fibronectin and type I collagen mRNA levels by transforming growth factor-beta. J Biol Chem. 1987 May 15;262(14):6443–6446. [PubMed] [Google Scholar]
  68. Jackson J. E., Whyte M. K., Allison D. J., Hughes J. M. Coil embolization of pulmonary arteriovenous malformations. Cor Vasa. 1990;32(3):191–196. [PubMed] [Google Scholar]
  69. Jessurun G. A., Kamphuis D. J., van der Zande F. H., Nossent J. C. Cerebral arteriovenous malformations in The Netherlands Antilles. High prevalence of hereditary hemorrhagic telangiectasia-related single and multiple cerebral arteriovenous malformations. Clin Neurol Neurosurg. 1993 Sep;95(3):193–198. doi: 10.1016/0303-8467(93)90123-x. [DOI] [PubMed] [Google Scholar]
  70. Johnson D. W., Berg J. N., Baldwin M. A., Gallione C. J., Marondel I., Yoon S. J., Stenzel T. T., Speer M., Pericak-Vance M. A., Diamond A. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet. 1996 Jun;13(2):189–195. doi: 10.1038/ng0696-189. [DOI] [PubMed] [Google Scholar]
  71. Johnson D. W., Berg J. N., Gallione C. J., McAllister K. A., Warner J. P., Helmbold E. A., Markel D. S., Jackson C. E., Porteous M. E., Marchuk D. A. A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. Genome Res. 1995 Aug;5(1):21–28. doi: 10.1101/gr.5.1.21. [DOI] [PubMed] [Google Scholar]
  72. Kaartinen V., Voncken J. W., Shuler C., Warburton D., Bu D., Heisterkamp N., Groffen J. Abnormal lung development and cleft palate in mice lacking TGF-beta 3 indicates defects of epithelial-mesenchymal interaction. Nat Genet. 1995 Dec;11(4):415–421. doi: 10.1038/ng1295-415. [DOI] [PubMed] [Google Scholar]
  73. King C. R., Lovrien E. W., Reiss J. Central nervous system arteriovenous malformations in multiple generations of a family with hereditary hemorrhagic telangiectasia. Clin Genet. 1977 Dec;12(6):372–381. doi: 10.1111/j.1399-0004.1977.tb00956.x. [DOI] [PubMed] [Google Scholar]
  74. Kjeldsen A. D., Vase P., Green A. Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J Intern Med. 1999 Jan;245(1):31–39. doi: 10.1046/j.1365-2796.1999.00398.x. [DOI] [PubMed] [Google Scholar]
  75. Kjeldsen A. D., Vase P., Oxhøj H. Hereditary hemorrhagic telangiectasia. N Engl J Med. 1996 Feb 1;334(5):331–332. [PubMed] [Google Scholar]
  76. Koh G. Y., Kim S. J., Klug M. G., Park K., Soonpaa M. H., Field L. J. Targeted expression of transforming growth factor-beta 1 in intracardiac grafts promotes vascular endothelial cell DNA synthesis. J Clin Invest. 1995 Jan;95(1):114–121. doi: 10.1172/JCI117627. [DOI] [PMC free article] [PubMed] [Google Scholar]
  77. Korzenik J. R., Topazian M. D., White R. Treatment of bleeding in hereditary hemorrhagic telangiectasia with aminocaproic acid. N Engl J Med. 1994 Nov 3;331(18):1236–1236. doi: 10.1056/NEJM199411033311818. [DOI] [PubMed] [Google Scholar]
  78. Kurnik P. B., Heymann W. R. Coronary artery ectasia associated with hereditary hemorrhagic telangiectasia. Arch Intern Med. 1989 Oct;149(10):2357–2359. [PubMed] [Google Scholar]
  79. Kwaan H. C., Astrup T. Demonstration of cellular fibrinolytic activity by the histochemical fibrin slide technique. Lab Invest. 1967 Aug;17(2):140–145. [PubMed] [Google Scholar]
  80. LINDSKOG G. E., LIEBOW A., KAUSEL H., JANZEN A. Pulmonary arteriovenous aneurysm. Ann Surg. 1950 Oct;132(4):591–610. doi: 10.1097/00000658-195010000-00002. [DOI] [PMC free article] [PubMed] [Google Scholar]
  81. Langille B. L., Bendeck M. P., Keeley F. W. Adaptations of carotid arteries of young and mature rabbits to reduced carotid blood flow. Am J Physiol. 1989 Apr;256(4 Pt 2):H931–H939. doi: 10.1152/ajpheart.1989.256.4.H931. [DOI] [PubMed] [Google Scholar]
  82. Lastres P., Bellon T., Cabañas C., Sanchez-Madrid F., Acevedo A., Gougos A., Letarte M., Bernabeu C. Regulated expression on human macrophages of endoglin, an Arg-Gly-Asp-containing surface antigen. Eur J Immunol. 1992 Feb;22(2):393–397. doi: 10.1002/eji.1830220216. [DOI] [PubMed] [Google Scholar]
  83. Lastres P., Letamendía A., Zhang H., Rius C., Almendro N., Raab U., López L. A., Langa C., Fabra A., Letarte M. Endoglin modulates cellular responses to TGF-beta 1. J Cell Biol. 1996 Jun;133(5):1109–1121. doi: 10.1083/jcb.133.5.1109. [DOI] [PMC free article] [PubMed] [Google Scholar]
  84. Le Roux B. T., Gibb B. H., Wainwright J. Pulmonary arteriovenous fistula with bilharzial pulmonary hypertension. Br Heart J. 1970 Jul;32(4):571–574. doi: 10.1136/hrt.32.4.571. [DOI] [PMC free article] [PubMed] [Google Scholar]
  85. Lee D. W., White R. I., Jr, Egglin T. K., Pollak J. S., Fayad P. B., Wirth J. A., Rosenblatt M. M., Dickey K. W., Burdge C. M. Embolotherapy of large pulmonary arteriovenous malformations: long-term results. Ann Thorac Surg. 1997 Oct;64(4):930–940. doi: 10.1016/s0003-4975(97)00815-1. [DOI] [PubMed] [Google Scholar]
  86. Lesser B. A., Wendt D., Miks V. M., Norum R. A. Identical twins with hereditary hemorrhagic telangiectasia concordant for cerebrovascular arteriovenous malformations. Am J Med. 1986 Nov;81(5):931–934. doi: 10.1016/0002-9343(86)90372-4. [DOI] [PubMed] [Google Scholar]
  87. Letamendía A., Lastres P., Botella L. M., Raab U., Langa C., Velasco B., Attisano L., Bernabeu C. Role of endoglin in cellular responses to transforming growth factor-beta. A comparative study with betaglycan. J Biol Chem. 1998 Dec 4;273(49):33011–33019. doi: 10.1074/jbc.273.49.33011. [DOI] [PubMed] [Google Scholar]
  88. Lincoln M. J., Shigeoka J. W. Pulmonary telangiectasia without hypoxemia. Chest. 1988 May;93(5):1097–1098. doi: 10.1378/chest.93.5.1097. [DOI] [PubMed] [Google Scholar]
  89. MOYER J. H., GLANTZ G., BREST A. N. Pulmonary arteriovenous fistulas; physiologic and clinical considerations. Am J Med. 1962 Mar;32:417–435. doi: 10.1016/0002-9343(62)90131-6. [DOI] [PubMed] [Google Scholar]
  90. MURI J. W. Arteriovenous aneurysm of the lung. Am J Surg. 1955 Jan;89(1):265–271. doi: 10.1016/0002-9610(55)90529-8. [DOI] [PubMed] [Google Scholar]
  91. MacNee W., Buist T. A., Finlayson N. D., Lamb D., Miller H. C., Muir A. L., Douglas A. C. Multiple microscopic pulmonary arteriovenous connections in the lungs presenting as cyanosis. Thorax. 1985 Apr;40(4):316–318. doi: 10.1136/thx.40.4.316. [DOI] [PMC free article] [PubMed] [Google Scholar]
  92. Macías-Silva M., Hoodless P. A., Tang S. J., Buchwald M., Wrana J. L. Specific activation of Smad1 signaling pathways by the BMP7 type I receptor, ALK2. J Biol Chem. 1998 Oct 2;273(40):25628–25636. doi: 10.1074/jbc.273.40.25628. [DOI] [PubMed] [Google Scholar]
  93. Madri J. A., Bell L., Merwin J. R. Modulation of vascular cell behavior by transforming growth factors beta. Mol Reprod Dev. 1992 Jun;32(2):121–126. doi: 10.1002/mrd.1080320207. [DOI] [PubMed] [Google Scholar]
  94. Martinez F. J., Villanueva A. G., Pickering R., Becker F. S., Smith D. R. Spontaneous hemothorax. Report of 6 cases and review of the literature. Medicine (Baltimore) 1992 Nov;71(6):354–368. [PubMed] [Google Scholar]
  95. Martini G. A. The liver in hereditary haemorrhagic teleangiectasia: an inborn error of vascular structure with multiple manifestations: a reappraisal. Gut. 1978 Jun;19(6):531–537. doi: 10.1136/gut.19.6.531. [DOI] [PMC free article] [PubMed] [Google Scholar]
  96. Massagué J. TGFbeta signaling: receptors, transducers, and Mad proteins. Cell. 1996 Jun 28;85(7):947–950. doi: 10.1016/s0092-8674(00)81296-9. [DOI] [PubMed] [Google Scholar]
  97. McAllister K. A., Baldwin M. A., Thukkani A. K., Gallione C. J., Berg J. N., Porteous M. E., Guttmacher A. E., Marchuk D. A. Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function. Hum Mol Genet. 1995 Oct;4(10):1983–1985. doi: 10.1093/hmg/4.10.1983. [DOI] [PubMed] [Google Scholar]
  98. McAllister K. A., Grogg K. M., Johnson D. W., Gallione C. J., Baldwin M. A., Jackson C. E., Helmbold E. A., Markel D. S., McKinnon W. C., Murrell J. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet. 1994 Dec;8(4):345–351. doi: 10.1038/ng1294-345. [DOI] [PubMed] [Google Scholar]
  99. McAllister K. A., Lennon F., Bowles-Biesecker B., McKinnon W. C., Helmbold E. A., Markel D. S., Jackson C. E., Guttmacher A. E., Pericak-Vance M. A., Marchuk D. A. Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype. J Med Genet. 1994 Dec;31(12):927–932. doi: 10.1136/jmg.31.12.927. [DOI] [PMC free article] [PubMed] [Google Scholar]
  100. McDonald M. T., Papenberg K. A., Ghosh S., Glatfelter A. A., Biesecker B. B., Helmbold E. A., Markel D. S., Zolotor A., McKinnon W. C., Vanderstoep J. L. A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. Nat Genet. 1994 Feb;6(2):197–204. doi: 10.1038/ng0294-197. [DOI] [PubMed] [Google Scholar]
  101. Mohler E. R., Monahan B., Canty M. D., Flockhart D. A. Cerebral abscess associated with dental procedure in hereditary haemorrhagic telangiectasia. Lancet. 1991 Aug 24;338(8765):508–509. doi: 10.1016/0140-6736(91)90577-c. [DOI] [PubMed] [Google Scholar]
  102. Muller J. Y., Michailov T., Izrael V., Bernard J. Maladie de Rendu-Osler dans une grande famille saharienne. 87 cas dans la même famille. Nouv Presse Med. 1978 May 20;7(20):1723–1725. [PubMed] [Google Scholar]
  103. Nickerson B. G., Sarkisian C., Tremper K. Bias and precision of pulse oximeters and arterial oximeters. Chest. 1988 Mar;93(3):515–517. doi: 10.1378/chest.93.3.515. [DOI] [PubMed] [Google Scholar]
  104. Ohno M., Cooke J. P., Dzau V. J., Gibbons G. H. Fluid shear stress induces endothelial transforming growth factor beta-1 transcription and production. Modulation by potassium channel blockade. J Clin Invest. 1995 Mar;95(3):1363–1369. doi: 10.1172/JCI117787. [DOI] [PMC free article] [PubMed] [Google Scholar]
  105. Okabe H., Ishibashi H., Kimura H., Yokota E., Kameda S., Miyanaga O., Niho Y. Rendu-Osler-Weber disease with portosystemic encephalopathy. Jpn J Med. 1987 Aug;26(3):396–400. doi: 10.2169/internalmedicine1962.26.396. [DOI] [PubMed] [Google Scholar]
  106. Parkin J. L., Dixon J. A. Argon laser treatment of head and neck vascular lesions. Otolaryngol Head Neck Surg. 1985 Apr;93(2):211–216. doi: 10.1177/019459988509300215. [DOI] [PubMed] [Google Scholar]
  107. Pece N., Vera S., Cymerman U., White R. I., Jr, Wrana J. L., Letarte M. Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative. J Clin Invest. 1997 Nov 15;100(10):2568–2579. doi: 10.1172/JCI119800. [DOI] [PMC free article] [PubMed] [Google Scholar]
  108. Pennington D. W., Gold W. M., Gordon R. L., Steiger D., Ring E. J., Golden J. A. Treatment of pulmonary arteriovenous malformations by therapeutic embolization. Rest and exercise physiology in eight patients. Am Rev Respir Dis. 1992 May;145(5):1047–1051. doi: 10.1164/ajrccm/145.5.1047. [DOI] [PubMed] [Google Scholar]
  109. Piantanida M., Buscarini E., Dellavecchia C., Minelli A., Rossi A., Buscarini L., Danesino C. Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2. J Med Genet. 1996 Jun;33(6):441–443. doi: 10.1136/jmg.33.6.441. [DOI] [PMC free article] [PubMed] [Google Scholar]
  110. Pikus H. J., Beach M. L., Harbaugh R. E. Microsurgical treatment of arteriovenous malformations: analysis and comparison with stereotactic radiosurgery. J Neurosurg. 1998 Apr;88(4):641–646. doi: 10.3171/jns.1998.88.4.0641. [DOI] [PubMed] [Google Scholar]
  111. Plauchu H., de Chadarévian J. P., Bideau A., Robert J. M. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet. 1989 Mar;32(3):291–297. doi: 10.1002/ajmg.1320320302. [DOI] [PubMed] [Google Scholar]
  112. Pollak J. S., Egglin T. K., Rosenblatt M. M., Dickey K. W., White R. I., Jr Clinical results of transvenous systemic embolotherapy with a neuroradiologic detachable balloon. Radiology. 1994 May;191(2):477–482. doi: 10.1148/radiology.191.2.8153325. [DOI] [PubMed] [Google Scholar]
  113. Porteous M. E., Curtis A., Williams O., Marchuk D., Bhattacharya S. S., Burn J. Genetic heterogeneity in hereditary haemorrhagic telangiectasia. J Med Genet. 1994 Dec;31(12):925–926. doi: 10.1136/jmg.31.12.925. [DOI] [PMC free article] [PubMed] [Google Scholar]
  114. Press O. W., Ramsey P. G. Central nervous system infections associated with hereditary hemorrhagic telangiectasia. Am J Med. 1984 Jul;77(1):86–92. doi: 10.1016/0002-9343(84)90441-8. [DOI] [PubMed] [Google Scholar]
  115. Proetzel G., Pawlowski S. A., Wiles M. V., Yin M., Boivin G. P., Howles P. N., Ding J., Ferguson M. W., Doetschman T. Transforming growth factor-beta 3 is required for secondary palate fusion. Nat Genet. 1995 Dec;11(4):409–414. doi: 10.1038/ng1295-409. [DOI] [PMC free article] [PubMed] [Google Scholar]
  116. Puskas J. D., Allen M. S., Moncure A. C., Wain J. C., Jr, Hilgenberg A. D., Wright C., Grillo H. C., Mathisen D. J. Pulmonary arteriovenous malformations: therapeutic options. Ann Thorac Surg. 1993 Aug;56(2):253–258. doi: 10.1016/0003-4975(93)91156-h. [DOI] [PubMed] [Google Scholar]
  117. Qu R., Silver M. M., Letarte M. Distribution of endoglin in early human development reveals high levels on endocardial cushion tissue mesenchyme during valve formation. Cell Tissue Res. 1998 May;292(2):333–343. doi: 10.1007/s004410051064. [DOI] [PubMed] [Google Scholar]
  118. Quackenbush E. J., Letarte M. Identification of several cell surface proteins of non-T, non-B acute lymphoblastic leukemia by using monoclonal antibodies. J Immunol. 1985 Feb;134(2):1276–1285. [PubMed] [Google Scholar]
  119. Remy-Jardin M., Wattinne L., Remy J. Transcatheter occlusion of pulmonary arterial circulation and collateral supply: failures, incidents, and complications. Radiology. 1991 Sep;180(3):699–705. doi: 10.1148/radiology.180.3.1871280. [DOI] [PubMed] [Google Scholar]
  120. Remy J., Remy-Jardin M., Giraud F., Wattinne L. Angioarchitecture of pulmonary arteriovenous malformations: clinical utility of three-dimensional helical CT. Radiology. 1994 Jun;191(3):657–664. doi: 10.1148/radiology.191.3.8184042. [DOI] [PubMed] [Google Scholar]
  121. Remy J., Remy-Jardin M., Wattinne L., Deffontaines C. Pulmonary arteriovenous malformations: evaluation with CT of the chest before and after treatment. Radiology. 1992 Mar;182(3):809–816. doi: 10.1148/radiology.182.3.1535899. [DOI] [PubMed] [Google Scholar]
  122. Richtsmeier W., Weaver G., Streck W., Jacobson H., Dewell R., Olson J. Estrogen and progesterone receptors in hereditary hemorrhagic telangiectasia. Otolaryngol Head Neck Surg. 1984 Oct;92(5):564–570. doi: 10.1177/019459988409200511. [DOI] [PubMed] [Google Scholar]
  123. Robin E. D., Laman D., Horn B. R., Theodore J. Platypnea related to orthodeoxia caused by true vascular lung shunts. N Engl J Med. 1976 Apr 22;294(17):941–943. doi: 10.1056/NEJM197604222941711. [DOI] [PubMed] [Google Scholar]
  124. Roelen B. A., van Rooijen M. A., Mummery C. L. Expression of ALK-1, a type 1 serine/threonine kinase receptor, coincides with sites of vasculogenesis and angiogenesis in early mouse development. Dev Dyn. 1997 Aug;209(4):418–430. doi: 10.1002/(SICI)1097-0177(199708)209:4<418::AID-AJA9>3.0.CO;2-L. [DOI] [PubMed] [Google Scholar]
  125. Román G., Fisher M., Perl D. P., Poser C. M. Neurological manifestations of hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): report of 2 cases and review of the literature. Ann Neurol. 1978 Aug;4(2):130–144. doi: 10.1002/ana.410040207. [DOI] [PubMed] [Google Scholar]
  126. SHUMACKER H. B., Jr, WALDHAUSEN J. A. PULMONARY ARTERIOVENOUS FISTULAS IN CHILDREN. Ann Surg. 1963 Oct;158:713–720. doi: 10.1097/00000658-196310000-00017. [DOI] [PMC free article] [PubMed] [Google Scholar]
  127. STORK W. J. Pulmonary arteriovenous fistulas. Am J Roentgenol Radium Ther Nucl Med. 1955 Sep;74(3):441–454. [PubMed] [Google Scholar]
  128. STRINGER C. J., STANLEY A. L., BATES R. C., SUMMERS J. E. Pulmonary arteriovenous fistula. Am J Surg. 1955 May;89(5):1054–1080. doi: 10.1016/0002-9610(55)90580-8. [DOI] [PubMed] [Google Scholar]
  129. Saba H. I., Morelli G. A., Logrono L. A. Brief report: treatment of bleeding in hereditary hemorrhagic telangiectasia with aminocaproic acid. N Engl J Med. 1994 Jun 23;330(25):1789–1790. doi: 10.1056/NEJM199406233302504. [DOI] [PubMed] [Google Scholar]
  130. Sagara K., Miyazono N., Inoue H., Ueno K., Nishida H., Nakajo M. Recanalization after coil embolotherapy of pulmonary arteriovenous malformations: study of long-term outcome and mechanism for recanalization. AJR Am J Roentgenol. 1998 Mar;170(3):727–730. doi: 10.2214/ajr.170.3.9490963. [DOI] [PubMed] [Google Scholar]
  131. Sargeant I. R., Loizou L. A., Rampton D., Tulloch M., Bown S. G. Laser ablation of upper gastrointestinal vascular ectasias: long term results. Gut. 1993 Apr;34(4):470–475. doi: 10.1136/gut.34.4.470. [DOI] [PMC free article] [PubMed] [Google Scholar]
  132. Shapshay S. M., Oliver P. Treatment of hereditary hemorrhagic telangiectasia by Nd-YAG laser photocoagulation. Laryngoscope. 1984 Dec;94(12 Pt 1):1554–1556. [PubMed] [Google Scholar]
  133. Shovlin C. L., Hughes J. M. Hereditary hemorrhagic telangiectasia. N Engl J Med. 1996 Feb 1;334(5):330–332. [PubMed] [Google Scholar]
  134. Shovlin C. L., Hughes J. M., Scott J., Seidman C. E., Seidman J. G. Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia. Am J Hum Genet. 1997 Jul;61(1):68–79. doi: 10.1086/513906. [DOI] [PMC free article] [PubMed] [Google Scholar]
  135. Shovlin C. L., Hughes J. M., Tuddenham E. G., Temperley I., Perembelon Y. F., Scott J., Seidman C. E., Seidman J. G. A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3. Nat Genet. 1994 Feb;6(2):205–209. doi: 10.1038/ng0294-205. [DOI] [PubMed] [Google Scholar]
  136. Shovlin C. L. Molecular defects in rare bleeding disorders: hereditary haemorrhagic telangiectasia. Thromb Haemost. 1997 Jul;78(1):145–150. [PubMed] [Google Scholar]
  137. Shovlin C. L., Winstock A. R., Peters A. M., Jackson J. E., Hughes J. M. Medical complications of pregnancy in hereditary haemorrhagic telangiectasia. QJM. 1995 Dec;88(12):879–887. [PubMed] [Google Scholar]
  138. Shub C., Tajik A. J., Seward J. B., Dines D. E. Detecting intrapulmonary right-to-left shunt with contrast echocardiography. Observations in a patient with diffuse pulmonary arteriovenous fistulas. Mayo Clin Proc. 1976 Feb;51(2):81–84. [PubMed] [Google Scholar]
  139. Sluiter-Eringa H., Orie N. G., Sluiter H. J. Pulmonary arteriovenous fistula. Diagnosis and prognosis in noncomplainant patients. Am Rev Respir Dis. 1969 Aug;100(2):177–188. doi: 10.1164/arrd.1969.100.2.177. [DOI] [PubMed] [Google Scholar]
  140. Sporn M. B., Roberts A. B., Wakefield L. M., de Crombrugghe B. Some recent advances in the chemistry and biology of transforming growth factor-beta. J Cell Biol. 1987 Sep;105(3):1039–1045. doi: 10.1083/jcb.105.3.1039. [DOI] [PMC free article] [PubMed] [Google Scholar]
  141. St-Jacques S., Cymerman U., Pece N., Letarte M. Molecular characterization and in situ localization of murine endoglin reveal that it is a transforming growth factor-beta binding protein of endothelial and stromal cells. Endocrinology. 1994 Jun;134(6):2645–2657. doi: 10.1210/endo.134.6.8194490. [DOI] [PubMed] [Google Scholar]
  142. St-Jacques S., Forte M., Lye S. J., Letarte M. Localization of endoglin, a transforming growth factor-beta binding protein, and of CD44 and integrins in placenta during the first trimester of pregnancy. Biol Reprod. 1994 Sep;51(3):405–413. doi: 10.1095/biolreprod51.3.405. [DOI] [PubMed] [Google Scholar]
  143. Strauss H. W., Hurley P. J., Rhodes B. A., Wagner H. N., Jr Quantification of right-to-left transpulmonary shunts in man. J Lab Clin Med. 1969 Oct;74(4):597–607. [PubMed] [Google Scholar]
  144. Suresh C. G., Coupe M. O., Jegarajah S. Recurrent cerebral abscesses 20 years before recognition of multiple pulmonary arteriovenous malformations. Br J Clin Pract. 1995 Mar-Apr;49(2):105–106. [PubMed] [Google Scholar]
  145. Swanson D. L., Dahl M. V. Embolic abscesses in hereditary hemorrhagic telangiectasia. J Am Acad Dermatol. 1991 Apr;24(4):580–583. doi: 10.1016/0190-9622(91)70087-i. [DOI] [PubMed] [Google Scholar]
  146. Taylor B. G., Cockerill E. M., Manfredi F., Klatte E. C. Therapeutic embolization of the pulmonary artery in pulmonary arteriovenous fistula. Am J Med. 1978 Feb;64(2):360–365. doi: 10.1016/0002-9343(78)90066-9. [DOI] [PubMed] [Google Scholar]
  147. Terry P. B., White R. I., Jr, Barth K. H., Kaufman S. L., Mitchell S. E. Pulmonary arteriovenous malformations. Physiologic observations and results of therapeutic balloon embolization. N Engl J Med. 1983 May 19;308(20):1197–1200. doi: 10.1056/NEJM198305193082005. [DOI] [PubMed] [Google Scholar]
  148. Thompson R. D., Jackson J., Peters A. M., Doré C. J., Hughes J. M. Sensitivity and specificity of radioisotope right-left shunt measurements and pulse oximetry for the early detection of pulmonary arteriovenous malformations. Chest. 1999 Jan;115(1):109–113. doi: 10.1378/chest.115.1.109. [DOI] [PubMed] [Google Scholar]
  149. Thorpe P. E., Burrows F. J. Antibody-directed targeting of the vasculature of solid tumors. Breast Cancer Res Treat. 1995;36(2):237–251. doi: 10.1007/BF00666044. [DOI] [PubMed] [Google Scholar]
  150. Trell E. Pulmonary hypertension in congenital shunt lesions. Observations in a right heart catheterization material, with particular reference to occurrence, natural history and prognostic implications in adolescence and adulthood. Acta Med Scand Suppl. 1972;535:3–26. [PubMed] [Google Scholar]
  151. Turjman F., Massoud T. F., Viñuela F., Sayre J. W., Guglielmi G., Duckwiler G. Correlation of the angioarchitectural features of cerebral arteriovenous malformations with clinical presentation of hemorrhage. Neurosurgery. 1995 Nov;37(5):856–862. doi: 10.1227/00006123-199511000-00002. [DOI] [PubMed] [Google Scholar]
  152. Ueki J., Hughes J. M., Peters A. M., Bellingan G. J., Mohammed M. A., Dutton J., Ussov W., Knight D., Glass D. Oxygen and 99mTc-MAA shunt estimations in patients with pulmonary arteriovenous malformations: effects of changes in posture and lung volume. Thorax. 1994 Apr;49(4):327–331. doi: 10.1136/thx.49.4.327. [DOI] [PMC free article] [PubMed] [Google Scholar]
  153. Ulsø C., Vase P., Stoksted P. Long-term results of dermatoplasty in the treatment of hereditary haemorrhagic telangiectasia. J Laryngol Otol. 1983 Mar;97(3):223–226. doi: 10.1017/s0022215100094044. [DOI] [PubMed] [Google Scholar]
  154. Van Cutsem E. Georges Brohee Prize. Oestrogen-progesterone, a new therapy of bleeding gastrointestinal vascular malformations. Acta Gastroenterol Belg. 1993 Jan-Feb;56(1):2–10. [PubMed] [Google Scholar]
  155. Vase I., Vase P. Ocular lesions in hereditary haemorrhagic telangiectasia. Acta Ophthalmol (Copenh) 1979;57(6):1084–1090. doi: 10.1111/j.1755-3768.1979.tb00541.x. [DOI] [PubMed] [Google Scholar]
  156. Vase P., Holm M., Arendrup H. Pulmonary arteriovenous fistulas in hereditary hemorrhagic telangiectasia. Acta Med Scand. 1985;218(1):105–109. doi: 10.1111/j.0954-6820.1985.tb08832.x. [DOI] [PubMed] [Google Scholar]
  157. Vase P., Lorentzen M. Histological findings following oestrogen treatment of hereditary haemorrhagic telangiectasia. A controlled double-blind investigation. J Laryngol Otol. 1983 May;97(5):427–429. doi: 10.1017/s0022215100094354. [DOI] [PubMed] [Google Scholar]
  158. Vickery C. L., Kuhn F. A. Using the KTP/532 laser to control epistaxis in patients with hereditary hemorrhagic telangiectasia. South Med J. 1996 Jan;89(1):78–80. doi: 10.1097/00007611-199601000-00014. [DOI] [PubMed] [Google Scholar]
  159. Vincent P., Plauchu H., Hazan J., Fauré S., Weissenbach J., Godet J. A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q. Hum Mol Genet. 1995 May;4(5):945–949. doi: 10.1093/hmg/4.5.945. [DOI] [PubMed] [Google Scholar]
  160. Waldhausen J. A., Abel F. L. The circulatory effects of pulmonary arteriovenous fistulas. Surgery. 1966 Jan;59(1):76–80. [PubMed] [Google Scholar]
  161. Wang J. M., Kumar S., Pye D., van Agthoven A. J., Krupinski J., Hunter R. D. A monoclonal antibody detects heterogeneity in vascular endothelium of tumours and normal tissues. Int J Cancer. 1993 May 28;54(3):363–370. doi: 10.1002/ijc.2910540303. [DOI] [PubMed] [Google Scholar]
  162. Wang J. M., Kumar S., van Agthoven A., Kumar P., Pye D., Hunter R. D. Irradiation induces up-regulation of E9 protein (CD105) in human vascular endothelial cells. Int J Cancer. 1995 Sep 15;62(6):791–796. doi: 10.1002/ijc.2910620624. [DOI] [PubMed] [Google Scholar]
  163. Watanabe N., Munakata Y., Ogiwara M., Miyatake M., Nakagawa F., Hirayama J. A case of pulmonary arteriovenous malformation in a patient with brain abscess successfully treated with video-assisted thoracoscopic resection. Chest. 1995 Dec;108(6):1724–1727. doi: 10.1378/chest.108.6.1724. [DOI] [PubMed] [Google Scholar]
  164. White R. I., Jr, Lynch-Nyhan A., Terry P., Buescher P. C., Farmlett E. J., Charnas L., Shuman K., Kim W., Kinnison M., Mitchell S. E. Pulmonary arteriovenous malformations: techniques and long-term outcome of embolotherapy. Radiology. 1988 Dec;169(3):663–669. doi: 10.1148/radiology.169.3.3186989. [DOI] [PubMed] [Google Scholar]
  165. White R. I., Jr, Pollak J. S. Pulmonary arteriovenous malformations: diagnosis with three-dimensional helical CT--a breakthrough without contrast media. Radiology. 1994 Jun;191(3):613–614. doi: 10.1148/radiology.191.3.8184034. [DOI] [PubMed] [Google Scholar]
  166. White R. I., Jr, Pollak J. S., Wirth J. A. Pulmonary arteriovenous malformations: diagnosis and transcatheter embolotherapy. J Vasc Interv Radiol. 1996 Nov-Dec;7(6):787–804. doi: 10.1016/s1051-0443(96)70851-5. [DOI] [PubMed] [Google Scholar]
  167. Whyte M. K., Hughes J. M., Jackson J. E., Peters A. M., Hempleman S. C., Moore D. P., Jones H. A. Cardiopulmonary response to exercise in patients with intrapulmonary vascular shunts. J Appl Physiol (1985) 1993 Jul;75(1):321–328. doi: 10.1152/jappl.1993.75.1.321. [DOI] [PubMed] [Google Scholar]
  168. Willinsky R. A., Lasjaunias P., Terbrugge K., Burrows P. Multiple cerebral arteriovenous malformations (AVMs). Review of our experience from 203 patients with cerebral vascular lesions. Neuroradiology. 1990;32(3):207–210. doi: 10.1007/BF00589113. [DOI] [PubMed] [Google Scholar]
  169. Wu X., Robinson C. E., Fong H. W., Crabtree J. S., Rodriguez B. R., Roe B. A., Gimble J. M. Cloning and characterization of the murine activin receptor like kinase-1 (ALK-1) homolog. Biochem Biophys Res Commun. 1995 Nov 2;216(1):78–83. doi: 10.1006/bbrc.1995.2594. [DOI] [PubMed] [Google Scholar]
  170. Yamaguchi H., Azuma H., Shigekiyo T., Inoue H., Saito S. A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia. Thromb Haemost. 1997 Feb;77(2):243–247. [PubMed] [Google Scholar]
  171. Yamashita H., Ichijo H., Grimsby S., Morén A., ten Dijke P., Miyazono K. Endoglin forms a heteromeric complex with the signaling receptors for transforming growth factor-beta. J Biol Chem. 1994 Jan 21;269(3):1995–2001. [PubMed] [Google Scholar]
  172. ten Dijke P., Ichijo H., Franzén P., Schulz P., Saras J., Toyoshima H., Heldin C. H., Miyazono K. Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. Oncogene. 1993 Oct;8(10):2879–2887. [PubMed] [Google Scholar]
  173. ten Dijke P., Yamashita H., Ichijo H., Franzén P., Laiho M., Miyazono K., Heldin C. H. Characterization of type I receptors for transforming growth factor-beta and activin. Science. 1994 Apr 1;264(5155):101–104. doi: 10.1126/science.8140412. [DOI] [PubMed] [Google Scholar]
  174. ter Berg J. W., Dippel D. W., Habbema J. D., Westermann C. J., Tulleken C. A., Willemse J. Unruptured intracranial arteriovenous malformations with hereditary haemorrhagic telangiectasia. Neurosurgical treatment or not? Acta Neurochir (Wien) 1993;121(1-2):34–42. doi: 10.1007/BF01405180. [DOI] [PubMed] [Google Scholar]
  175. ter Berg J. W., Overtoom T. M., Ludwig J. W., Bijlsma J. B., Tulleken C. A., Willemse J. Detection of unruptured familial intracranial aneurysms by intravenous digital subtraction angiography. Screening of two affected families. Neuroradiology. 1987;29(3):272–276. doi: 10.1007/BF00451766. [DOI] [PubMed] [Google Scholar]

Articles from Thorax are provided here courtesy of BMJ Publishing Group

RESOURCES