UpToDate
Official reprint from UpToDate®
www.uptodate.com ©2015 UpToDate®

Pulmonary arteriovenous malformations: Clinical features and diagnostic evaluation in adults

Author
James R Gossage, MD
Section Editor
Jess Mandel, MD
Deputy Editor
Geraldine Finlay, MD

INTRODUCTION

Pulmonary arteriovenous malformations (PAVMs) are abnormal communications between pulmonary arteries and veins [1]. Alternative names include pulmonary arteriovenous fistulae, pulmonary arteriovenous aneurysms, cavernous angiomas of the lung, and pulmonary telangiectases [2]. PAVMs are uncommon, but they are an important consideration in the differential diagnosis of common pulmonary problems, including hypoxemia, pulmonary nodules, and hemoptysis.

Clinical features, indications for diagnostic testing, and an approach to the diagnostic evaluation of suspected PAVMs are reviewed here. The epidemiology, etiology, pathology, and treatment of PAVMs are discussed separately. (See "Pulmonary arteriovenous malformations: Epidemiology, etiology, and pathology in adults" and "Therapeutic approach to adult patients with pulmonary arteriovenous malformations".)

CLINICAL MANIFESTATIONS

Although the literature prior to 2000 [3] suggested that most pulmonary arteriovenous malformations (PAVMs) were associated with pulmonary symptoms, studies since 2000 describe pulmonary symptoms in only 20 to 65 percent (approximately 40 percent) and the remainder are asymptomatic, typically found incidentally on chest imaging [4-8]. The most common pulmonary symptoms are dyspnea in 13 to 56 percent and hemoptysis in 7 to 30 percent (table 1) [4,5,8,9]. Patients with underlying hereditary hemorrhagic telangiectasia (HHT) (ie, the most common cause of PAVMs), often shows symptoms attributable to this disorder including epistaxis and mucocutaneous telangiectases (table 2). In addition, PAVMs should always be suspected in patients who present with unexplained dyspnea or hypoxemia as well as in patients with nodules and a history of a stroke or brain abscess (stroke and brain abscess are common complications of PAVMs). (See 'Features attributable to PAVM' below and 'Features attributable to HHT' below and 'Features attributable to PAVM complications' below and "Pulmonary arteriovenous malformations: Epidemiology, etiology, and pathology in adults", section on 'Etiology'.)

Symptoms related to PAVMs typically begin during the fourth through sixth decades of life [10], whereas symptoms of HHT frequently develop before the age of 20 years (eg, epistaxis due to nasal telangiectases or appearance of telangiectases on the skin (table 2)) [11,12].

The frequency and severity of symptoms tends to be greater among those who have large PAVMs, multiple PAVMs, a large shunt fraction, or HHT, although not all studies have found this [13-16]. Diffuse microvascular PAVMs are almost always symptomatic [17].

                                     

Subscribers log in here

To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information or to purchase a personal subscription, click below on the option that best describes you:
Literature review current through: Jun 2015. | This topic last updated: Jul 20, 2015.
The content on the UpToDate website is not intended nor recommended as a substitute for medical advice, diagnosis, or treatment. Always seek the advice of your own physician or other qualified health care professional regarding any medical questions or conditions. The use of this website is governed by the UpToDate Terms of Use ©2015 UpToDate, Inc.
References
Top
  1. Churton, T. Multiple aneurysms of the pulmonary artery. Br Med J 1897; 1:1223.
  2. SLOAN RD, COOLEY RN. Congenital pulmonary arteriovenous aneurysm. Am J Roentgenol Radium Ther Nucl Med 1953; 70:183.
  3. Gossage JR, Kanj G. Pulmonary arteriovenous malformations. A state of the art review. Am J Respir Crit Care Med 1998; 158:643.
  4. Cottin V, Chinet T, Lavolé A, et al. Pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: a series of 126 patients. Medicine (Baltimore) 2007; 86:1.
  5. Pollak JS, Saluja S, Thabet A, et al. Clinical and anatomic outcomes after embolotherapy of pulmonary arteriovenous malformations. J Vasc Interv Radiol 2006; 17:35.
  6. Mager JJ, Overtoom TT, Blauw H, et al. Embolotherapy of pulmonary arteriovenous malformations: long-term results in 112 patients. J Vasc Interv Radiol 2004; 15:451.
  7. Shovlin CL, Jackson JE, Bamford KB, et al. Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia. Thorax 2008; 63:259.
  8. Angriman F, Ferreyro BL, Wainstein EJ, Serra MM. Pulmonary arteriovenous malformations and embolic complications in patients with hereditary hemorrhagic telangiectasia. Arch Bronconeumol 2014; 50:301.
  9. Shin JH, Park SJ, Ko GY, et al. Embolotherapy for pulmonary arteriovenous malformations in patients without hereditary hemorrhagic telangiectasia. Korean J Radiol 2010; 11:312.
  10. Fuchizaki U, Miyamori H, Kitagawa S, et al. Hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber disease). Lancet 2003; 362:1490.
  11. Vase P, Holm M, Arendrup H. Pulmonary arteriovenous fistulas in hereditary hemorrhagic telangiectasia. Acta Med Scand 1985; 218:105.
  12. Plauchu H, de Chadarévian JP, Bideau A, Robert JM. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 1989; 32:291.
  13. Swanson KL, Prakash UB, Stanson AW. Pulmonary arteriovenous fistulas: Mayo Clinic experience, 1982-1997. Mayo Clin Proc 1999; 74:671.
  14. Dines DE, Arms RA, Bernatz PE, Gomes MR. Pulmonary arteriovenous fistulas. Mayo Clin Proc 1974; 49:460.
  15. STRINGER CJ, STANLEY AL, BATES RC, SUMMERS JE. Pulmonary arteriovenous fistula. Am J Surg 1955; 89:1054.
  16. Haitjema TJ, Overtoom TT, Westermann CJ, Lammers JW. Embolisation of pulmonary arteriovenous malformations: results and follow up in 32 patients. Thorax 1995; 50:719.
  17. Dines DE, Seward JB, Bernatz PE. Pulmonary arteriovenous fistulas. Mayo Clin Proc 1983; 58:176.
  18. Wong HH, Chan RP, Klatt R, Faughnan ME. Idiopathic pulmonary arteriovenous malformations: clinical and imaging characteristics. Eur Respir J 2011; 38:368.
  19. Garcia-Tsao G, Korzenik JR, Young L, et al. Liver disease in patients with hereditary hemorrhagic telangiectasia. N Engl J Med 2000; 343:931.
  20. Santhirapala V, Chamali B, McKernan H, et al. Orthodeoxia and postural orthostatic tachycardia in patients with pulmonary arteriovenous malformations: a prospective 8-year series. Thorax 2014; 69:1046.
  21. White RI Jr, Lynch-Nyhan A, Terry P, et al. Pulmonary arteriovenous malformations: techniques and long-term outcome of embolotherapy. Radiology 1988; 169:663.
  22. Dutton JA, Jackson JE, Hughes JM, et al. Pulmonary arteriovenous malformations: results of treatment with coil embolization in 53 patients. AJR Am J Roentgenol 1995; 165:1119.
  23. Terry PB, White RI Jr, Barth KH, et al. Pulmonary arteriovenous malformations. Physiologic observations and results of therapeutic balloon embolization. N Engl J Med 1983; 308:1197.
  24. Lange PA, Stoller JK. The hepatopulmonary syndrome. Ann Intern Med 1995; 122:521.
  25. Faughnan ME, Lui YW, Wirth JA, et al. Diffuse pulmonary arteriovenous malformations: characteristics and prognosis. Chest 2000; 117:31.
  26. Moussouttas M, Fayad P, Rosenblatt M, et al. Pulmonary arteriovenous malformations: cerebral ischemia and neurologic manifestations. Neurology 2000; 55:959.
  27. Maher CO, Piepgras DG, Brown RD Jr, et al. Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia. Stroke 2001; 32:877.
  28. Velthuis S, Buscarini E, van Gent MW, et al. Grade of pulmonary right-to-left shunt on contrast echocardiography and cerebral complications: a striking association. Chest 2013; 144:542.
  29. Ference BA, Shannon TM, White RI Jr, et al. Life-threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia. Chest 1994; 106:1387.
  30. Sluiter-Eringa H, Orie NG, Sluiter HJ. Pulmonary arteriovenous fistula. Diagnosis and prognosis in noncomplainant patients. Am Rev Respir Dis 1969; 100:177.
  31. Shovlin CL, Tighe HC, Davies RJ, et al. Embolisation of pulmonary arteriovenous malformations: no consistent effect on pulmonary artery pressure. Eur Respir J 2008; 32:162.
  32. Sperling DC, Cheitlin M, Sullivan RW, Smith A. Pulmonary arteriovenous fistulas with pulmonary hypertension. Chest 1977; 71:753.
  33. Harrison RE, Flanagan JA, Sankelo M, 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.
  34. Trembath RC, Thomson JR, Machado RD, et al. Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. N Engl J Med 2001; 345:325.
  35. Abdalla SA, Gallione CJ, Barst RJ, et al. Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia. Eur Respir J 2004; 23:373.
  36. Papagiannis J, Apostolopoulou S, Sarris G, Rammos S. Diagnosis and management of pulmonary arteriovenous malformations. Images Paediatr Cardiol 2002; 4:33.
  37. Rodan BA, Goodwin JD, Chen JT, Ravin CE. Worsening pulmonary hypertension after resection of arteriovenous fistula. AJR Am J Roentgenol 1981; 137:864.
  38. Shovlin CL, Letarte M. Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms. Thorax 1999; 54:714.
  39. BOSHER LH Jr, BLAKE DA, BYRD BR. An analysis of the pathologic anatomy of pulmonary arteriovenous aneurysms with particular reference to the applicability of local excision. Surgery 1959; 45:91.
  40. Jaskolka J, Wu L, Chan RP, Faughnan ME. Imaging of hereditary hemorrhagic telangiectasia. AJR Am J Roentgenol 2004; 183:307.
  41. Remy J, Remy-Jardin M, Wattinne L, Deffontaines C. Pulmonary arteriovenous malformations: evaluation with CT of the chest before and after treatment. Radiology 1992; 182:809.
  42. Remy J, Remy-Jardin M, Giraud F, Wattinne L. Angioarchitecture of pulmonary arteriovenous malformations: clinical utility of three-dimensional helical CT. Radiology 1994; 191:657.
  43. Whyte MK, Hughes JM, Jackson JE, et al. Cardiopulmonary response to exercise in patients with intrapulmonary vascular shunts. J Appl Physiol (1985) 1993; 75:321.
  44. Chilvers ER, Whyte MK, Jackson JE, et al. 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; 142:420.
  45. Murphy J, Pierucci P, Chyun D, et al. Results of exercise stress testing in patients with diffuse pulmonary arteriovenous malformations. Pediatr Cardiol 2009; 30:978.
  46. Haitjema T, Disch F, Overtoom TT, et al. Screening family members of patients with hereditary hemorrhagic telangiectasia. Am J Med 1995; 99:519.
  47. Cottin V, Plauchu H, Bayle JY, et al. Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. Am J Respir Crit Care Med 2004; 169:994.
  48. van Gent MW, Post MC, Snijder RJ, et al. Real prevalence of pulmonary right-to-left shunt according to genotype in patients with hereditary hemorrhagic telangiectasia: a transthoracic contrast echocardiography study. Chest 2010; 138:833.
  49. McAllister KA, Lennon F, Bowles-Biesecker B, et al. Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype. J Med Genet 1994; 31:927.
  50. Faughnan ME, Palda VA, Garcia-Tsao G, et al. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet 2011; 48:73.
  51. Barzilai B, Waggoner AD, Spessert C, et al. Two-dimensional contrast echocardiography in the detection and follow-up of congenital pulmonary arteriovenous malformations. Am J Cardiol 1991; 68:1507.
  52. Gossage JR. Role of contrast echocardiography in screening for pulmonary arteriovenous malformation in patients with hereditary hemorrhagic telangiectasia. Chest 2010; 138:769.
  53. Zukotynski K, Chan RP, Chow CM, et al. Contrast echocardiography grading predicts pulmonary arteriovenous malformations on CT. Chest 2007; 132:18.
  54. Gazzaniga P, Buscarini E, Leandro G, et al. Contrast echocardiography for pulmonary arteriovenous malformations screening: does any bubble matter? Eur J Echocardiogr 2009; 10:513.
  55. Nanthakumar K, Graham AT, Robinson TI, et al. Contrast echocardiography for detection of pulmonary arteriovenous malformations. Am Heart J 2001; 141:243.
  56. Velthuis S, Buscarini E, Gossage JR, et al. Clinical implications of pulmonary shunting on saline contrast echocardiography. J Am Soc Echocardiogr 2015; 28:255.
  57. Oxhøj H, Kjeldsen AD, Nielsen G. Screening for pulmonary arteriovenous malformations: contrast echocardiography versus pulse oximetry. Scand Cardiovasc J 2000; 34:281.
  58. Andersen PE, Kjeldsen AD, Oxhøj H, et al. Embolotherapy for pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Acta Radiol 1998; 39:723.
  59. Lee WL, Graham AF, Pugash RA, et al. Contrast echocardiography remains positive after treatment of pulmonary arteriovenous malformations. Chest 2003; 123:351.
  60. Oliveira GH, Seward JB, Cortese DA, Dines DE. Contrast transesophageal echocardiography in the diagnosis and localization of diffuse pulmonary telangiectasias. Chest 2000; 118:557.
  61. Shub C, Tajik AJ, Seward JB, Dines DE. Detecting intrapulmonary right-to-left shunt with contrast echocardiography. Observations in a patient with diffuse pulmonary arteriovenous fistulas. Mayo Clin Proc 1976; 51:81.
  62. Seward JB, Tajik AJ, Spangler JG, Ritter DG. Echocardiographic contrast studies: initial experience. Mayo Clin Proc 1975; 50:163.
  63. van Gent MW, Post MC, Snijder RJ, et al. Grading of pulmonary right-to-left shunt with transthoracic contrast echocardiography: does it predict the indication for embolotherapy? Chest 2009; 135:1288.
  64. Parra JA, Bueno J, Zarauza J, et al. Graded contrast echocardiography in pulmonary arteriovenous malformations. Eur Respir J 2010; 35:1279.
  65. Velthuis S, Buscarini E, Mager JJ, et al. Predicting the size of pulmonary arteriovenous malformations on chest computed tomography: a role for transthoracic contrast echocardiography. Eur Respir J 2014; 44:150.
  66. Kjeldsen AD, Oxhøj H, Andersen PE, et al. Pulmonary arteriovenous malformations: screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia. Chest 1999; 116:432.
  67. Kjeldsen AD, Vase P, Oxhøj H. Hereditary hemorrhagic telangiectasia. N Engl J Med 1996; 334:331.
  68. Whyte MK, Peters AM, Hughes JM, et al. Quantification of right to left shunt at rest and during exercise in patients with pulmonary arteriovenous malformations. Thorax 1992; 47:790.
  69. Thompson RD, Jackson J, Peters AM, et al. Sensitivity and specificity of radioisotope right-left shunt measurements and pulse oximetry for the early detection of pulmonary arteriovenous malformations. Chest 1999; 115:109.
  70. Ueki J, Hughes JM, Peters AM, et al. Oxygen and 99mTc-MAA shunt estimations in patients with pulmonary arteriovenous malformations: effects of changes in posture and lung volume. Thorax 1994; 49:327.
  71. Godwin JD, Webb WR. Dynamic computed tomography in the evaluation of vascular lung lesions. Radiology 1981; 138:629.
  72. Dinsmore BJ, Gefter WB, Hatabu H, Kressel HY. Pulmonary arteriovenous malformations: diagnosis by gradient-refocused MR imaging. J Comput Assist Tomogr 1990; 14:918.
  73. White RI Jr, Mitchell SE, Barth KH, et al. Angioarchitecture of pulmonary arteriovenous malformations: an important consideration before embolotherapy. AJR Am J Roentgenol 1983; 140:681.
  74. White RI Jr, Pollak JS, Wirth JA. Pulmonary arteriovenous malformations: diagnosis and transcatheter embolotherapy. J Vasc Interv Radiol 1996; 7:787.
  75. Silverman JM, Julien PJ, Herfkens RJ, Pelc NJ. Magnetic resonance imaging evaluation of pulmonary vascular malformations. Chest 1994; 106:1333.
  76. Ohno Y, Hatabu H, Takenaka D, et al. Contrast-enhanced MR perfusion imaging and MR angiography: utility for management of pulmonary arteriovenous malformations for embolotherapy. Eur J Radiol 2002; 41:136.
  77. Khalil A, Farres MT, Mangiapan G, et al. Pulmonary arteriovenous malformations. Chest 2000; 117:1399.
  78. Schneider G, Uder M, Koehler M, et al. MR angiography for detection of pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. AJR Am J Roentgenol 2008; 190:892.