Skip to main content

Classification, Evaluation, and Management of Congenital Peripheral Vascular Malformations

  • Chapter
  • First Online:
Textbook of Catheter-Based Cardiovascular Interventions

Abstract

The International Society for Study of Vascular Anomalies (ISSVA) categorizes congenital vascular malformations by their flow properties into high-flow arteriovenous malformations, slow-flow venous and lymphatic malformations, and congenital mixed syndromes. Despite historically confusing and often conflicting nomenclature and classification schemes, our understanding of the natural history, hemodynamics, and treatment outcomes of these lesions has expanded and evolved over the last few decades. As such, certain fundamental diagnostic and therapeutic principles have been established and are considered standard of care. It is crucial to adhere to these overarching principles in the overall management of these lesions. These are highlighted and expanded upon in this chapter. Furthermore, recently discovered biomolecular pathways implicated in the pathogenesis of vascular malformations and affiliated syndromes are briefly reviewed.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 149.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 199.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 279.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Nassiri N, Cirillo-Penn NC, Thomas J. Evaluation and management of peripheral arteriovenous malformations. J Vasc Surg. 2015;62(6):1667–76.

    Article  PubMed  Google Scholar 

  2. Sundararajan SH, Nassiri N. Regarding “cavernous hemangioma of the external carotid artery”. J Vasc Surg. 2014;60:1412.

    Article  PubMed  Google Scholar 

  3. Clemens RK, Pfammatter T, Meier TO, Alomari AI, Amann-Vesti BR. Vascular malformations revisited. Vasa. 2015;44:5–22.

    Article  PubMed  Google Scholar 

  4. Nassiri N, Dudiy Y, Carroccio A, Rosen RJ. Transarterial treatment of congenital renal arteriovenous fistulas. J Vasc Surg. 2013;58:1310–5.

    Article  PubMed  Google Scholar 

  5. Hassanein AH, Mulliken JB, Fishman SJ, Greene AK. Evaluation of terminology for vascular anomalies in current literature. Plast Reconstr Surg. 2011;127:347–51.

    Article  PubMed  CAS  Google Scholar 

  6. Nassiri N, Thomas J, Cirillo-Penn NC. Evaluation and management of peripheral venous and lymphatic malformations. J Vasc Surg Venous Lymphat Disord. 2016;4(2):257–65.

    Article  PubMed  Google Scholar 

  7. Mulliken JB, Glowacki J. Hemangiomas and vascular malformations in infants and children: a classification based on endothelial characteristics. Plast Reconstr Surg. 1982;69:412–22.

    Article  PubMed  CAS  Google Scholar 

  8. ISSVA Classification for Vascular Anomalies © International Society for the Study of Vascular Anomalies. 2014. www.issva.org/classification.

  9. Brouillard P, Vikkula M. Genetic causes of vascular malformations. Hum Mol Genet. 2007;16:R140–9.

    Article  PubMed  CAS  Google Scholar 

  10. Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovee JV, et al. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. J Pediatr. 2015;166:1048–54. e1–5.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  11. Burrows PE. Endovascular treatment of slow-flow vascular malformations. Tech Vasc Interv Radiol. 2013;16:12–21.

    Article  PubMed  Google Scholar 

  12. Chaudry G, Burrows PE, Padua HM, Dillon BJ, Fishman SJ, Alomari AI. Sclerotherapy of abdominal lymphatic malformations with doxycycline. J Vasc Interv Radiol. 2011;22:1431–5.

    Article  PubMed  Google Scholar 

  13. Garzon MC, Huang JT, Enjolras O, Frieden IJ. Vascular malformations: part I. J Am Acad Dermatol. 2007;56:353–70.

    Article  PubMed  Google Scholar 

  14. Gloviczki P, Duncan A, Kalra M, Oderich G, Ricotta J, Bower T, et al. Vascular malformations: an update. Perspect Vasc Surg Endovasc Ther. 2009;21:133–48.

    Article  PubMed  Google Scholar 

  15. Mohan AT, Adams S, Adams K, Hudson DA. Intralesional bleomycin injection in management of low flow vascular malformations in children. J Plast Surg Hand Surg. 2014;49:1–5.

    Google Scholar 

  16. Dompmartin A, Vikkula M, Boon LM. Venous malformation: update on etiopathogenesis, diagnosis and management. Phlebology. 2010;25:224–35.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  17. Paltiel HJ, Burrows PE, Kozakewich HP, Zurakowski D, Mulliken JB. Soft-tissue vascular anomalies: utility of US for diagnosis. Radiology. 2000;214:747–54.

    Article  PubMed  CAS  Google Scholar 

  18. Nosher JL, Murillo PG, Liszewski M, Gendel V, Gribbin CE. Vascular anomalies: a pictorial review of nomenclature, diagnosis and treatment. World J Radiol. 2014;6:677–92.

    Article  PubMed  PubMed Central  Google Scholar 

  19. Lee BB, Do YS, Byun HS, Choo IW, Kim DI, Huh SH. Advanced management of venous malformation with ethanol sclerotherapy: mid- term results. J Vasc Surg. 2003;37:533–8.

    Article  PubMed  CAS  Google Scholar 

  20. Gloviczki P, Driscoll DJ. Klippel-Trenaunay syndrome: current management. Phlebology. 2007;22:291–8.

    Article  PubMed  CAS  Google Scholar 

  21. Steiner F, FitzJohn T, Tan ST. Ethanol sclerotherapy for venous malformation. ANZ J Surg. 2016;86(10):790–5.

    Article  PubMed  Google Scholar 

  22. Wong GA, Armstrong DC, Robertson JM. Cardiovascular collapse during ethanol sclerotherapy in a pediatric patient. Paediatr Anaesth. 2006;16:343–6.

    Article  PubMed  CAS  Google Scholar 

  23. Yakes WF, Luethke JM, Merland JJ, Rak KM, Slater DD, Hollis HW, et al. Ethanol embolization of arteriovenous fistulas: a primary mode of therapy. J Vasc Interv Radiol. 1990;1:89–96.

    Article  PubMed  CAS  Google Scholar 

  24. Yakes WF, Luethke JM, Parker SH, Stavros AT, Rak KM, Hopper KD, et al. Ethanol embolization of vascular malformations. Radiographics. 1990;10:787–96.

    Article  PubMed  CAS  Google Scholar 

  25. Lee BB, Kim DI, Huh S, Kim HH, Choo IW, Byun HS, et al. New experiences with absolute ethanol sclerotherapy in the management of a complex form of congenital venous malformation. J Vasc Surg. 2001;33:764–72.

    Article  PubMed  CAS  Google Scholar 

  26. Kok K, McCafferty I, Monaghan A, Nishikawa H. Percutaneous sclerotherapy of vascular malformations in children using sodium tet- radecyl sulphate: the Birmingham experience. J Plast Reconstr Aesthet Surg. 2012;65:1451–60.

    Article  PubMed  Google Scholar 

  27. Burrows PE, Mitri RK, Alomari A, Padua HM, Lord DJ, Sylvia MB, et al. Percutaneous sclerotherapy of lymphatic malformations with doxycycline. Lymphat Res Biol. 2008;6:209–16.

    Article  PubMed  CAS  Google Scholar 

  28. Levitin GM, Thompson SH, Berenstein A, Waner M. Surgical treat- ment of buccofacial region vascular anomalies using an intraoral buccomucosal flap procedure. Arch Otolaryngol Head Neck Surg. 2010;136:134–7.

    Article  PubMed  Google Scholar 

  29. Jiang Z, Li S, Kretlow JD, Cao W. Closure of large defects after microcystic lymphatic malformations using lateral intercostal artery perforator flap. J Plast Reconstr Aesthet Surg. 2014;67:1230–6.

    Article  PubMed  Google Scholar 

  30. Niti K, Manish P. Microcystic lymphatic malformation (lymphangioma circumscriptum) treated using a minimally invasive technique of radiofrequency ablation and sclerotherapy. Dermatol Surg. 2010;36:1711–7.

    Article  PubMed  CAS  Google Scholar 

  31. Raveh E, Waner M, Kornreich L, Segal K, Ben-Amitai D, Kalish E, et al. The current approach to hemangiomas and vascular malformations of the head and neck [in Hebrew]. Harefuah. 2002;141:783–8, 859, 858

    PubMed  CAS  Google Scholar 

  32. Nassiri N, TM O, Rosen RJ, Moritz J, Waner M. Staged endovascular and surgical treatment of slow-flow vulvar venous malformations. Am J Obstet Gynecol. 2013;208:366.e1–6.

    Article  Google Scholar 

  33. Lee BB, Baumgartner I, Berlien HP, Bianchini G, Burrows P, Do YS, et al. Consensus document of the International Union of Angiology (IUA)-2013. Current concept on the management of arteriovenous management. Int Angiol. 2013;32:9–36.

    PubMed  CAS  Google Scholar 

  34. Blei F. Medical and genetic aspects of vascular anomalies. Tech Vasc Interv Radiol. 2013;16:2–11.

    Article  PubMed  Google Scholar 

  35. Alomari A, Dubois J. Interventional management of vascular malformations. Tech Vasc Interv Radiol. 2011;14:22–31.

    Article  PubMed  Google Scholar 

  36. Blei F, Bittman M. Congenital vascular anomalies: current perspectives on diagnosis, classification, and management. J Vasc Diagn Interv. 2016;4:23–37.

    Google Scholar 

  37. Limaye N, Wouters V, Uebelhoer M, Tuominen M, Wirkkala R, Mulliken JB, et al. Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. Nat Genet. 2009;41:118–24.

    Article  PubMed  CAS  Google Scholar 

  38. Burrows PE. Vascular malformations involving the female pelvis. Semin Interv Radiol. 2008;25:347–60.

    Article  Google Scholar 

  39. Frasier K, Giangola G, Rosen R, Ginat DT. Endovascular radio-frequency ablation: a novel treatment of venous insufficiency in Klippel-Trenaunay patients. J Vasc Surg. 2008;47:1339–45.

    Article  PubMed  Google Scholar 

  40. Rosenblatt M. Endovascular management of venous malformations. Phlebology. 2007;22:264–75.

    Article  PubMed  CAS  Google Scholar 

  41. Nishida T, Faughnan ME, Krings T, Chakinala M, Gossage JR, Young WL, et al. Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations. Am J Med Genet A. 2012;158A:2829–34.

    Article  PubMed  CAS  Google Scholar 

  42. Rosen RJ, Nassiri N, Drury JE. Interventional management of high- flow vascular malformations. Tech Vasc Interv Radiol. 2013;16:22–38.

    Article  PubMed  Google Scholar 

  43. Rosen RJ, Nassiri N. Visceral and extremity arteriovenous malformation. In: Kandarpa K, Machan L, editors. Handbook of interventional radiologic procedures. 4th ed. Philadelphia: Lippincott/Williams/Wilkins; 2010. p. 287–96.

    Google Scholar 

  44. Murphy PA, Kim TN, Lu G, Bollen AW, Schaffer CB, Wang RA. Notch4 normalization reduces blood vessel size in arteriovenous malformations. Sci Transl Med. 2012;4:117ra8.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  45. Tu J, Li Y, Hu Z. Notch1 and 4 signaling responds to an increasing vascular wall shear stress in a rat model of arteriovenous malformations. Biomed Res Int. 2014;2014:368082.

    PubMed  PubMed Central  Google Scholar 

  46. Tu J, Li Y, Hu Z, Chen Z. Radiosurgery inhibition of the Notch signaling pathway in a rat model of arteriovenous malformations. J Neurosurg. 2014;120:1385–96.

    Article  PubMed  Google Scholar 

  47. Rutherford RB. Noninvasive evaluation for congenital arteriovenous fistulas and malformations. Semin Vasc Surg. 2012;25:49–57.

    Article  PubMed  Google Scholar 

  48. Yakes WF. Endovascular management of high-flow arteriovenous malformations. Semin Interv Radiol. 2004;21:49–58.

    Article  Google Scholar 

  49. Trerotola SO, Pyeritz RE. PAVM embolization: an update. Am J Roentgenol. 2010;195:837–45.

    Article  Google Scholar 

  50. Yakes WF. Yakes’ AVM classification system. J Vasc Interv Radiol. 2015;26:S224.

    Article  Google Scholar 

  51. Rosen RJ, Drury J. Interventional management of vascular malformations. In: Kipshidze N, Fareed J, Rosen RJ, Dangas G, Surreys PW, editors. Urgent interventional therapies. Hoboken: Wiley; 2014. p. 419–41.

    Google Scholar 

  52. Pollak J, White RJ. Embolization for pulmonary vascular malformations. In: Kandarpa K, Machan L, editors. Handbook of interventional radiologic procedures. 4th ed. Philadelphia: Lippincott, Williams, & Wilkins; 2010.

    Google Scholar 

  53. Pollak JS, White RJ. Distal cross-sectional occlusion is the “key” to treating pulmonary arteriovenous malformations. J Vasc Interv Radiol. 2012;23:1578–80.

    Article  PubMed  Google Scholar 

  54. Nassiri N, Rosen RJ. Pulmonary arteriovenous malformations. In: Urgent interventional therapies. New York: Wiley; 2014. p. 410–8.

    Google Scholar 

  55. Nassiri N, Thomas J, Rahimi S. Fibrodysplastic implications for transvenous embolization of a high-flow pelvic arteriovenous malformation in Osler-Weber-Rendu syndrome. J Vasc Surg Cases. 2015;1:16–9.

    Article  Google Scholar 

  56. Marrone G, Caruso S, Miraglia R, Tarantino I, Volpes R, Luca A. Percutaneous transarterial embolization of extrahepatic arteroportal fistula. World J Gastroenterol. 2006;12:5562–4.

    Article  PubMed  PubMed Central  Google Scholar 

  57. Lee BB, Do YS, Yakes W, Kim DI, Mattassi R, Hyon WS. Management of arteriovenous malformations: a multidisciplinary approach. J Vasc Surg. 2004;39:590–600.

    Article  PubMed  Google Scholar 

  58. Park UJ, Do YS, Park KB, Park HS, Kim YW, Lee BB, et al. Treatment of arteriovenous malformations involving the hand. Ann Vasc Surg. 2012;26:643–8.

    Article  PubMed  Google Scholar 

  59. White RI, Pollak JS, Wirth JA. Pulmonary arteriovenous malformations: diagnosis and transcatheter embolotherapy. J Vasc Interv Radiol. 1996;7:787–804.

    Article  PubMed  Google Scholar 

  60. Yakes WF, Haas DK, Parker SH, Gibson MD, Hopper KD, Mulligan JS, et al. Symptomatic vascular malformations: ethanol embolotherapy. Radiology. 1989;170:1059–66.

    Article  PubMed  CAS  Google Scholar 

  61. White RI, Pollak J, Persing J, Henderson KJ, Thomson JG, Burdge CM. Long-term outcome of embolotherapy and surgery for high-flow extremity arteriovenous malformations. J Vasc Interv Radiol. 2000;11:1285–95.

    Article  PubMed  Google Scholar 

  62. Park HS, Do YS, Park KB, Kim DI, Kim YW, Kim MJ, et al. Ethanol embolotherapy of hand arteriovenous malformations. J Vasc Surg. 2011;53:725–31.

    Article  PubMed  Google Scholar 

  63. Coldwell DM, Stokes KR, Yakes WF. Embolotherapy: agents, clinical applications, and techniques. Radiogr Rev Publ Radiol Soc N Am. 1994;14:623–43.

    CAS  Google Scholar 

  64. Rammos S, Bortolotti C, Lanzino G. Endovascular management of intracranial dural arteriovenous fistulae. Neurosurg Clin N Am. 2014;25:539–49.

    Article  PubMed  Google Scholar 

  65. Consoli A, Renieri L, Nappini S, Limbucci N, Mangiafico S. Endovascular treatment of deep hemorrhagic brain arteriovenous malformations with transvenous onyx embolization. AJNR Am J Neuroradiol. 2013;34:1805–11.

    Article  PubMed  CAS  Google Scholar 

  66. McCaffery TD, Lilly JO. Hereditary telangiectasia manifested as gastrointestinal bleeding without external visible telangiectasia. Am J Gastroenterol. 1975;63:327–32.

    PubMed  Google Scholar 

  67. Sofocleous CT, Rosen RJ, Raskin K, Fioole B, Hofstee DJ. Congenital vascular malformations in the hand and forearm. J Endovasc Ther. 2001;8:484–94.

    Article  PubMed  CAS  Google Scholar 

  68. Do YS, Park KB, Park HS, Cho SK, Shin SW, Moon JW, et al. Extremity arteriovenous malformations involving the bone: therapeutic outcomes of ethanol embolotherapy. J Vasc Interv Radiol. 2010;21:807–16.

    Article  PubMed  Google Scholar 

  69. Hyun D, Do YS, Park KB, Kim DI, Kim YW, Park HS, et al. Ethanol embolotherapy of foot arteriovenous malformations. J Vasc Surg. 2013;58:1619–26.

    Article  PubMed  Google Scholar 

  70. Hill RA, Pho RW, Kumar VP. Resection of vascular malformations. J Hand Surg Edinb Scotl. 1993;18:17–21.

    Article  CAS  Google Scholar 

  71. Yakes WF, Krauth L, Ecklund J, Swengle R, Dreisbach JN, Seibert CE, et al. Ethanol endovascular management of brain arteriovenous malformations: initial results. Neurosurgery. 1997;40:1145–52. discussion: 1152–4.

    Article  PubMed  CAS  Google Scholar 

  72. Yakes WF, Pevsner P, Reed M, Donohue HJ, Ghaed N. Serial embolizations of an extremity arteriovenous malformation with alcohol via direct percutaneous puncture. AJR Am J Roentgenol. 1986;146:1038–40.

    Article  PubMed  CAS  Google Scholar 

  73. Tan KT, Simons ME, Rajan DK, Terbrugge K. Peripheral high-flow arteriovenous vascular malformations: a single-center experience. J Vasc Interv Radiol. 2004;15:1071–80.

    Article  PubMed  Google Scholar 

  74. Rockman CB, Rosen RJ, Jacobowitz GR, Weiswasser J, Hofstee DJ, Fioole B, et al. Transcatheter embolization of extremity vascular malformations: the long-term success of multiple interventions. Ann Vasc Surg. 2003;17:417–23.

    Article  PubMed  Google Scholar 

  75. Lee BB, Baumgartner I, Berlien P, Bianchini G, Burrows P, Gloviczki P, et al. Diagnosis and treatment of venous malformations. Consensus document of the International Union of Phlebology (IUP): updated 2013. Int Angiol. 2015;34:97–149.

    PubMed  CAS  Google Scholar 

  76. Jeong HS, Baek CH, Son YI, Kim TW, Lee BB, Byun HS. Treatment for extracranial arteriovenous malformations of the head and neck. Acta Otolaryngol (Stockh). 2006;126:295–300.

    Article  Google Scholar 

  77. Wang D, Su L, Fan X. Cardiovascular collapse and disseminated intravascular coagulation as complications of ethanol embolization of arteriovenous malformations in the upper lip: case report and literature review. J Oral Maxillofac Surg. 2014;72:346–51.

    Article  PubMed  Google Scholar 

  78. Cho CH, Choi JS. Permanent ulnar nerve palsy after embolotherapy of arteriovenous malformation around the elbow. Hand Surg. 2011;16:167–9.

    Article  PubMed  Google Scholar 

  79. Salloum R, Fox CE, Alvarez-Allende CR, Hammill AM, Dasgupta R, Dickie BH, et al. Response of blue rubber bleb nevus syndrome to sirolimus treatment. Pediatr Blood Cancer. 2016;63(11):1911–4.

    Article  PubMed  CAS  Google Scholar 

  80. Yesil S, Tanyildiz HG, Bozkurt C, Cakmakci E, Sahin G. Single-center experience with sirolimus therapy for vascular malformations. Pediatr Hematol Oncol. 2016;33(3):219–25.

    Article  PubMed  CAS  Google Scholar 

  81. Boscolo E, Limaye N, Huang L, Kang K, Soblet J, Uebelhoer M, et al. Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects. J Clin Invest. 2015;125(9):3491–504.

    Article  PubMed  PubMed Central  Google Scholar 

  82. Trujillo G, Lapunzina P, del Pozo A, Rodriguez L, Ibanez K, Tenorio J, et al. PIK3CA mutations in vascular malformations. Presented at International Society for the Study of Vascular Anomalies (ISSVA) 21st International Workshop on Vascular Anomalies; April 26–29; Buenos Aires, Argentina; 2016. Abstract 155.

    Google Scholar 

  83. Soblet J, Kangas J, Natynki M, Mendola A, Helaers R, Uebelhoer M, et al. Blue rubber bleb nevus (BRBN) syndrome is caused by somatic TEK (TIE2) mutations. J Invest Dermatol. 2016;137(1):207–16.

    Article  PubMed  CAS  Google Scholar 

  84. Jin XL, Wang ZH, Xiao XB, Huang LS, Zhao XY. Blue rubber bleb nevus syndrome: a case report and literature review. World J Gastroenterol. 2014;20:17254–9.

    Article  PubMed  PubMed Central  Google Scholar 

  85. Ivars M, Redondo P. Efficacy of topical sirolimus (Rapamycin) for the treatment of microcystic lymphatic malformations. JAMA Dermatol. 2016. https://doi.org/10.1001/jamadermatol.2016.3697. [epub ahead of print].

  86. Boon L, Hammer J, Duez S, Seront E, Van Damme A, Hoyoux C, et al. Rapamycin as novel treatment for refractory to standard care lymphatic anomalies. Presented at International Society for the Study of Vascular Anomalies (ISSVA) 21st International Workshop on Vascular Anomalies; April 26–29; Buenos Aires, Argentina; 2016. Abstract 220.

    Google Scholar 

  87. Grunewald TG, Damke L, Maschan M, et al. First report of effective and feasible treatment of multifocal lymphangiomatosis (Gorham-Stout) with bevacizumab in a child. Ann Oncol. 2010;21(8):1733–4.

    Article  PubMed  CAS  Google Scholar 

  88. Swetman GL, Berk DR, Vasanawala SS, Feinstein JA, Lane AT, Bruckner AL. Sildenafil for severe lymphatic malformations. N Engl J Med. 2012;366(4):384–6.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Naiem Nassiri MD RPVI .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2018 Springer International Publishing AG, part of Springer Nature

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Nassiri, N., Huntress, L.A. (2018). Classification, Evaluation, and Management of Congenital Peripheral Vascular Malformations. In: Lanzer, P. (eds) Textbook of Catheter-Based Cardiovascular Interventions. Springer, Cham. https://doi.org/10.1007/978-3-319-55994-0_86

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-55994-0_86

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-55993-3

  • Online ISBN: 978-3-319-55994-0

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics