Familial occurrence of brain arteriovenous malformations: A systematic review

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 78, Issue 11, 2007, Pages 1213-1217

  Van Beijnum, J ^a,b   Van Der Worp, H B ^b   Schippers, H M ^b   Van Nieuwenhuizen, O ^b   Kappelle, L J ^b   Rinkel, G J E ^b   Van Der Berkelbach Sprenkel, J W ^b   Klijn, C J M ^b  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AGE DISTRIBUTION; BRAIN ARTERIOVENOUS MALFORMATION; CALCULATION; CLINICAL FEATURE; COMPARATIVE STUDY; CONFIDENCE INTERVAL; FAMILIAL DISEASE; HUMAN; MEDICAL LITERATURE; PRIORITY JOURNAL; REVIEW; SEX RATIO; SYSTEMATIC REVIEW; ADOLESCENT; ADULT; CHILD; FEMALE; GENETIC SUSCEPTIBILITY; GENETICS; INFANT; MALE; MIDDLE AGED; PRESCHOOL CHILD; RENDU OSLER WEBER DISEASE;

TRANSFORMING GROWTH FACTOR BETA;

ADOLESCENT; ADULT; ANTICIPATION, GENETIC; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; MALE; MIDDLE AGED; TELANGIECTASIA, HEREDITARY HEMORRHAGIC; TRANSFORMING GROWTH FACTOR BETA;

EID: 35748967285     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2006.112227     Document Type: Review

References (55)

1. Kaplan HA, Aronson SM, Browder EJ. Vascular malformatons of the brain. An anatomical study. J Neurosurg 1961;18:630-5.
2. Fleetwood IG, Steinberg GK. Arteriovenous malformations. Lancet 2002;359:863-73.
3. Yaşargil MG. Microneurosurgery. New York: Georg Thieme Verslag, 1987.
4. Al Shahi R, Fang JS, Lewis SC, et al. Prevalence of adults with brain arteriovenous malformations: a community based study in Scotland using capture-recapture analysis. J Neurol Neurosurg Psychiatry 2002;73:547-51.
5. Al Shahi R, Bhattacharya JJ, Currie DG, et al. Prospective, population-based detection of intracranial vascular malformations in adults: the Scottish Intracranial Vascular Malformation Study (SIVMS). Stroke 2003;34:1163-9.
6. Stapf C, Mast H, Sciacca RR, et al. The New York Islands AVM Study: design, study progress, and initial results. Stroke 2003;34:e29-33.
7. Kadoya C, Momota Y, Ikegami Y, et al. Central nervous system arteriovenous malformations with hereditary hemorrhagic telangiectasia: report of a family with three cases. Surg Neurol 1994;42:234-9.
8. Leblanc R, Melanson D, Wilkinson RD. Hereditary neurocutaneous angiomatosis. Report of four cases. J Neurosurg 1996;85:1135-42.
9. Herzig R, Burval S, Vladyka V, et al. Familial occurrence of cerebral arteriovenous malformation in sisters: case report and review of the literature. Eur J Neurol 2000;7:95-100.
10. Larsen PD, Hellbusch LC, Lefkowitz DM, et al. Cerebral arteriovenous malformation in three successive generations. Pediatr Neurol 1997;17:74-6.
11. Aberfeld DC, Rao KR. Familial arteriovenous malformation of the brain. Neurology 1981;31:184-6.
12. Amin-Hanjani S, Robertson R, Arginteanu MS, et al. Familial intracranial arteriovenous malformations. Case report and review of the literature. Pediatr Neurosurg 1998;29:208-13.
13. Barre RG, Suter CG, Rosenblum WI. Familial vascular malformation or chance occurrence? Case report of two affected family members. Neurology 1978;28:98-100.
14. Boyd MC, Steinbok P, Paty DW. Familial arteriovenous malformations. Report of four cases in one family. J Neurosurg 1985;62:597-9.
15. Brilli RJ, Sacchetti A, Neff S. Familial arteriovenous malformations in children. Pediatr Emerg Care 1995;11:376-8.
16. Bucci MN, Chandler WF, Gebarski SS, et al. Multiple progressive familial thrombosed arteriovenous malformations. Neurosurgery 1986;19:401-4.
17. Dujovny M, Segal R, McBride D. Familial intracranial arteriovenous malformation. Vasc Surg 1981;15:71-6.
18. Goto S, Abe M, Tsuji T, et al. Familial arteriovenous malformations of the brain - two case reports. Neurol Med Chir (Tokyo) 1994;34:221-4.
19. Bannerman RM, Ingall GB, Graf Q. The familial occurrence of intracranial aneurysms. Neurology 1970;20:283-92.
20. Kamiryo T, Nelson PK, Bose A, et al. Familial arteriovenous malformations in siblings. Surg Neurol 2000;53:255-9.
21. Laing JW, Smith RR. Intracranial arteriovenous malformations in sisters: a case report. J Miss State Med Assoc 1974;15:203-6.
22. Snead OC III, Acker JD, Morawetz R. Familial arteriovenous malformation. Ann Neurol 1979;5:585-7.
23. Yamamoto S, Ando K, Suzuki, et al. Cerebral arteriovenous malformation occuring in two patients of mother-daughter combination. Rinsho Shinkeigaku 1983;23:908.
24. Yokoyama K, Asano Y, Murakawa T, et al. Familial occurrence of arteriovenous malformation of the brain. J Neurosurg 1991;74:585-9.
25. Zellem RT, Buchheit WA. Multiple intracranial arteriovenous malformations: case report. Neurosurgery 1985;17:88-93.
26. Morita T, Iwai T, Takada M, et al. Familial occurrence of intracranial arteriovenous malformation. No Shinkei Geka 1985;13:181-6.
27. Griepentrog F. Heredity in cerebral angioma. Nervenarzt 1951;22:304-5.
28. Takenaka K, Muroi J, Yamada S, et al. Genetic dissection of the familial cerebral arteriovenous malformation. Jpn J Neurosurg 2004;13:837-45.
29. Kidd HA, Cumings JN. Cerebral angiomata in an Icelandic family. Lancet 1947;249:747-8.
30. Allard JC, Hochberg FH, Franklin PD, et al. Magnetic resonance imaging in a family with hereditary cerebral arteriovenous malformations. Arch Neurol 1989;46:184-7.
31. Lee KS, Spetzler RF. Cerebral cavernous malformations. Arch Neurol 1989;46:1273.
32. Gomez CR. Hereditary cerebral arteriovenous malformations. Arch Neurol 1989;46:1168.
33. Lesser BA, Wendt D, Miks VM, et al. Identical twins with hereditary hemorrhagic telangiectasia concordant for cerebrovascular arteriovenous malformations. Am J Med 1986;81:931-4.
34. Krings T, Ozanne A, Chng SM, et al. Neurovascular phenotypes in hereditary haemorrhagic telangiectasia patients according to age. Review of 50 consecutive patients aged 1 day-60 years. Neuroradiology 2005;47:711-20.
35. Letteboer TG, Mager JJ, Snijder RJ, et al. Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia. J Med Genet 2006;43:371-7.
36. Abdalla SA, Letarte M. Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. J Med Genet 2006;43:97-110.
37. Gallione CJ, Richards JA, Letteboer TG, et al. SMAD4 mutations found in unselected HHT patients. J Med Genet 2006;43:793-7.
38. Pawlikowska L, Tran MN, Achrol AS, et al. Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations. Stroke 2005;36:2278- 80.
39. McAllister KA, Grogg KM, Johnson DW, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994;8:345-51.
40. Johnson DW, Berg JN, Baldwin MA, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 1996;13:189-95.
41. Hashimoto T, Lawton MT, Wen G, et al. Gene microarray analysis of human brain arteriovenous malformations. Neurosurgery 2004;54:410-23.
42. Young WL, Yang GY. Are there genetic influences on sporadic brain arteriovenous malformations? Stroke 2004;35:2740-5.
43. Shenkar R, Elliott JP, Diener K, et al. Differential gene expression in human cerebrovascular malformations. Neurosurgery 2003;52:465-77.
44. Pawlikowska L, Tran MN, Achrol AS, et al. Polymorphisms in genes involved in inflammatory and angiogenic pathways and the risk of hemorrhagic presentation of brain arteriovenous malformations. Stroke 2004;35:2294-300.
45. Achrol AS, Pawlikowska L, McCulloch CE, et al. Tumor necrosis factor-alpha-238G>A promoter polymorphism is associated with increased risk of new hemorrhage in the natural course of patients with brain arteriovenous malformations. Stroke 2006;37:231-4.
46. Pawlikowska L, Poon KY, Achrol AS, et al. Apolipoprotein E epsilon2 is associated with new hemorrhage risk in brain arteriovenous malformations. Neurosurgery 2006;58:838-43.
47. Fullerton HJ, Achrol AS, Johnston SC, et al. Long-term hemorrhage risk in children versus adults with brain arteriovenous malformations. Stroke 2005;36:2099-104.
48. Willinsky RA, Lasjaunias P, Terbrugge K, et al. Multiple cerebral arteriovenous malformations (AVMs). Review of our experience from 203 patients with cerebral vascular lesions. Neuroradiology 1990;32:207-10.
49. Bromberg JE, Rinkel GJ, Algra A, et al. Familial subarachnoid hemorrhage: distinctive features and patterns of inheritance. Ann Neurol 1995;38:929-34.
50. ter Berg HW, Dippel DW, Limburg M, et al. Familial intracranial aneurysms. A review. Stroke 1992;23:1024-30.
51. Norrgard O, Angquist KA, Fodstad H, et al. Intracranial aneurysms and heredity. Neurosurgery 1987;20:236-9.
52. Zabramski JM, Wascher TM, Spetzler RF, et al. The natural history of familial cavernous malformations: results of an ongoing study. J Neurosurg 1994;80:422-32.
53. Ruigrok YM, Rinkel GJ, Wijmenga C, et al. Anticipation and phenotype in familial intracranial aneurysms. J Neurol Neurosurg Psychiatry 2004;75:1436-42.
54. Siegel AM, Andermann E, Badhwar A, et al. Anticipation in familial cavernous angioma: a study of 52 families from International Familial Cavernous Angioma Study. IFCAS Group. Lancet 1998;352:1676-7.
55. Stapf C, Mohr JP, Choi JH, et al. Invasive treatment of unruptured brain arteriovenous malformations is experimental therapy. Curr Opin Neurol 2006;19:63-8.