Download PDF
Semin intervent Radiol 2017; 34(03): 250-257
DOI: 10.1055/s-0037-1604298
Review Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Angioarchitecture of Hereditary Arteriovenous Malformations

Patricia E. Burrows
1   Department of Radiology, Medical College of Wisconsin, Children's Hospital of Wisconsin, Milwaukee, Wisconsin
› Author Affiliations
Further Information

Publication History

Publication Date:
11 September 2017 (online)

Also available at
    Permissions and Reprints

Abstract

This article describes three hereditary conditions known to be associated with arteriovenous malformation (AVM), along with their clinical and imaging features and angiographic angioarchitecture. Hereditary hemorrhagic telangiectasia, capillary malformation–AVM (CM–AVM), and PTEN tumor hamartoma syndrome are conditions with autosomal dominant inheritance, caused by mutations in different molecular pathways, which frequently present with symptomatic AVMs. Imaging biomarkers, including sites of predilection, angioarchitecture, and tissue overgrowth patterns, are helpful in identifying these patients and selecting appropriate treatment.

Keywords

arteriovenous malformation - capillary malformation–arteriovenous malformation - hereditary hemorrhagic telangiectasia - PTEN tumor hamartoma syndrome - genetic mutations
 

  • References

  • 1 Park KB, Do YS, Kim DI. , et al. Predictive factors for response of peripheral arteriovenous malformations to embolization therapy: analysis of clinical data and imaging findings. J Vasc Interv Radiol 2012; 23 (11) 1478-1486
    CrossrefPubMedGoogle Scholar
  • 2 Houdart E, Gobin YP, Casasco A, Aymard A, Herbreteau D, Merland JJ. A proposed angiographic classification of intracranial arteriovenous fistulae and malformations. Neuroradiology 1993; 35 (05) 381-385
    CrossrefPubMedGoogle Scholar
  • 3 Razek AA, Gaballa G, Megahed AS, Elmogy E. Time resolved imaging of contrast kinetics (TRICKS) MR angiography of arteriovenous malformations of head and neck. Eur J Radiol 2013; 82 (11) 1885-1891
    CrossrefPubMedGoogle Scholar
  • 4 Cho SK, Do YS, Kim DI. , et al. Peripheral arteriovenous malformations with a dominant outflow vein: results of ethanol embolization. Korean J Radiol 2008; 9 (03) 258-267
    CrossrefPubMedGoogle Scholar
  • 5 Sabbà C, Pasculli G, Lenato GM. , et al. Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers. J Thromb Haemost 2007; 5 (06) 1149-1157
    CrossrefPubMedGoogle Scholar
  • 6 Giordano P, Lenato GM, Suppressa P. , et al. Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children. J Pediatr 2013; 163 (01) 179-186.e1–e3
    CrossrefPubMedGoogle Scholar
  • 7 Mei-Zahav M, Letarte M, Faughnan ME, Abdalla SA, Cymerman U, MacLusky IB. Symptomatic children with hereditary hemorrhagic telangiectasia: a pediatric center experience. Arch Pediatr Adolesc Med 2006; 160 (06) 596-601
    CrossrefPubMedGoogle Scholar
  • 8 White Jr RI, Mitchell SE, Barth KH. , et al. Angioarchitecture of pulmonary arteriovenous malformations: an important consideration before embolotherapy. AJR Am J Roentgenol 1983; 140 (04) 681-686
    CrossrefPubMedGoogle Scholar
  • 9 Tau N, Atar E, Mei-Zahav M. , et al. Amplatzer vascular plugs versus coils for embolization of pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. Cardiovasc Intervent Radiol 2016; 39 (08) 1110-1114
    CrossrefPubMedGoogle Scholar
  • 10 Kajiwara K, Urashima M, Yamagami T. , et al. Venous sac embolization of pulmonary arteriovenous malformation: safety and effectiveness at mid-term follow-up. Acta Radiol 2014; 55 (09) 1093-1098
    CrossrefPubMedGoogle Scholar
  • 11 Brinjikji W, Iyer VN, Wood CP, Lanzino G. Prevalence and characteristics of brain arteriovenous malformations in hereditary hemorrhagic telangiectasia: a systematic review and meta-analysis. J Neurosurg 2016; 1-9 . doi:10.3171/2016.7.JNS16847. [Epub ahead of print]
    PubMedGoogle Scholar
  • 12 Krings T, Kim H, Power S. , et al; Brain Vascular Malformation Consortium HHT Investigator Group. Neurovascular manifestations in hereditary hemorrhagic telangiectasia: imaging features and genotype-phenotype correlations. AJNR Am J Neuroradiol 2015; 36 (05) 863-870
    CrossrefPubMedGoogle Scholar
  • 13 Yang W, Liu A, Hung AL. , et al. Lower risk of intracranial arteriovenous malformation hemorrhage in patients with hereditary hemorrhagic telangiectasia. Neurosurgery 2016; 78 (05) 684-693
    CrossrefPubMedGoogle Scholar
  • 14 Willemse RB, Mager JJ, Westermann CJ, Overtoom TT, Mauser H, Wolbers JG. Bleeding risk of cerebrovascular malformations in hereditary hemorrhagic telangiectasia. J Neurosurg 2000; 92 (05) 779-784
    CrossrefPubMedGoogle Scholar
  • 15 Brinjikji W, Nasr DM, Cloft HJ, Iyer VN, Lanzino G. Spinal arteriovenous fistulae in patients with hereditary hemorrhagic telangiectasia: a case report and systematic review of the literature. Interv Neuroradiol 2016; 22 (03) 354-361
    CrossrefPubMedGoogle Scholar
  • 16 Krings T, Ozanne A, Chng SM, Alvarez H, Rodesch G, Lasjaunias PL. Neurovascular phenotypes in hereditary haemorrhagic telangiectasia patients according to age. Review of 50 consecutive patients aged 1 day-60 years. Neuroradiology 2005; 47 (10) 711-720
    CrossrefPubMedGoogle Scholar
  • 17 Mahadevan J, Ozanne A, Yoshida Y. , et al. Hereditary haemorrhagic telangiectasia cerebrospinal localization in adults and children. Review of 39 cases. Interv Neuroradiol 2004; 10 (01) 27-35
    PubMedGoogle Scholar
  • 18 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; 163 (05) 1105-1110
    CrossrefPubMedGoogle Scholar
  • 19 Alam MA, Sami S, Babu S. Successful treatment of bleeding gastro-intestinal angiodysplasia in hereditary haemorrhagic telangiectasia with thalidomide. BMJ Case Rep 2011; 2011: 201
    PubMedGoogle Scholar
  • 20 Dupuis-Girod S, Ginon I, Saurin JC. , et al. Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output. JAMA 2012; 307 (09) 948-955
    CrossrefPubMedGoogle Scholar
  • 21 Thompson AB, Ross DA, Berard P, Figueroa-Bodine J, Livada N, Richer SL. Very low dose bevacizumab for the treatment of epistaxis in patients with hereditary hemorrhagic telangiectasia. Allergy Rhinol (Providence) 2014; 5 (02) 91-95
    CrossrefPubMedGoogle Scholar
  • 22 Macmurdo CF, Wooderchak-Donahue W, Bayrak-Toydemir P. , et al. RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome. Am J Med Genet A 2016; 170 (06) 1450-1454
    CrossrefPubMedGoogle Scholar
  • 23 Grillner P, Söderman M, Holmin S, Rodesch G. A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations. Childs Nerv Syst 2016; 32 (04) 709-715
    CrossrefPubMedGoogle Scholar
  • 24 Thiex R, Mulliken JB, Revencu N. , et al. A novel association between RASA1 mutations and spinal arteriovenous anomalies. AJNR Am J Neuroradiol 2010; 31 (04) 775-779
    CrossrefPubMedGoogle Scholar
  • 25 Amyere M, Revencu N, Helaers R. , et al. Germline loss of function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling. Circulation 2017; pii: CIRCULATIONAHA.116.026886 DOI: 10.1161/CIRCULATIONAHA.116.026886. . [Epub ahead of print]. Available at: www.ncbi.nlm.nih.gov/pubmed/28687708 . Accessed July 20, 2017
    CrossrefPubMedGoogle Scholar
  • 26 Erkek E, Hizel S, Sanlý C. , et al. Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. J Am Acad Dermatol 2005; 53 (04) 639-643
    CrossrefPubMedGoogle Scholar
  • 27 Tan WH, Baris HN, Burrows PE. , et al. The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. J Med Genet 2007; 44 (09) 594-602
    CrossrefPubMedGoogle Scholar
  • 28 Srinivasa RN, Burrows PE. Dural arteriovenous malformation in a child with Bannayan-Riley-Ruvalcaba Syndrome. AJNR Am J Neuroradiol 2006; 27 (09) 1927-1929
    PubMedGoogle Scholar
  • 29 Kurek KC, Howard E, Tennant LB. , et al. PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes. Am J Surg Pathol 2012; 36 (05) 671-687
    CrossrefPubMedGoogle Scholar
  • 30 Ngeow J, Sesock K, Eng C. Breast cancer risk and clinical implications for germline PTEN mutation carriers. Breast Cancer Res Treat 2017; 165 (01) 1-8 . doi: 10.1007/s10549-015-3665-z.
    CrossrefPubMedGoogle Scholar
  • 31 Ngeow J, Eng C. PTEN hamartoma tumor syndrome: clinical risk assessment and management protocol. Methods 2015; 77-78: 11-19
    CrossrefPubMedGoogle Scholar
  • 32 Mester J, Eng C. When overgrowth bumps into cancer: the PTEN-opathies. Am J Med Genet C Semin Med Genet 2013; 163C (02) 114-121
    PubMedGoogle Scholar
  • 33 Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res 2012; 18 (02) 400-407
    CrossrefPubMedGoogle Scholar