The Ehlers-Danlos syndrome in obstetrics


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Abstract

The review gives the data available in the literature on Ehlers-Danlos syndrome. It briefly considers its pathogenesis, classification, and clinical picture. Pregnancy and labor management tactics in this pathology, as well as complications are described.

References

  1. Athanassiou A.M, Turrentine M.A. Myocardial infarction and coronary artery dissection during pregnancy associated with type IV Ehlers-Danlos syndrome // Am. J. Perinatol. - 1996. - Vol. 13, N 3. - P.181-183.
  2. Bade M.A., Queral L.A., Mukherjee D. et al. Endovascular abdominal aortic aneurysm repair in a patient with Ehlers-Danlos syndrome // J.Vasc. Surg. - 2007. - Vol.46, N 2. - P.360-362.
  3. Barabas A.P. Ehlers-Danlos syndrome: Association with prematurity premature rupture of foetal membrane; possible increase in incidence // Brit. Med. J. - 1966. - N 2. - P. 682-684.
  4. Barabas A.P. Ehlers-Danlos syndrome: associated with prematurity and premature rupture of foetal membranes; possible increase in incidence// Br. Med. J. - 1966. - Vol. 17, N 5515. - P. 682-684.
  5. Barabas AP. Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s) // Br. Med. J. - 1967. - Vol. 2, N 552. - P. 612-613.
  6. Beighton P., De Paepe A., Steinmann B. et al. EhlersDanlos Syndromes: Revised Nosology, Villefranche, 1997 // Amer. J. Med. Genet. - 1998. - Vol.77. - P. 31-37.
  7. Beighton P. Ehlers-Danlos syndrome// Ann. Rheum. Dis. - 1970. - Vol. 29, N 3. - P. 332-333.
  8. Birk D.E., Fitch J.M., Babiars J.P. et al. Collagen fibrillogenesis in vitro: interaction of types I and V collagen regulates fibril diameter // J. Cell Science. - 1990. - Vol. 95. - P. 649-657.
  9. Bjorck M., Pigg M., Kragsterman B. et al. Fatal bleeding following delivery: a manifestation of the vascular type of Ehlers-Danlos' syndrome // Gynecol. Obstet. Invest. - 2007. - Vol. 63, N 3. - P. 173-175.
  10. Brees C.K., Gall S.A. Rupture of the external iliac artery during pregnancy: a case of type IV EhlersDanlos syndrome // J. Ky Med. Assoc. - 1995. - Vol. 93, N 12. - P. 553-555.
  11. Bruno P.A., Napolitano V., Votino F. Pregnancy and delivery in Ehlers-Danlos syndrome type V // Clin. Exp. Obstet. Gynec. - 1997. - Vol. 24, N 3. -P. 152-153.
  12. Burch G.H., Gong Y., Liu W. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome // Nature Genetics. - 1997. - Vol. 17, September. - P. 104- 108.
  13. Burrows N.P. et al. The gene encoding collagen alpha-1(V) (COL5A1) is linked to mixed EhlersDanlos syndrome type I/II // J. Invest. Derm. - 1996. - Vol. 106. - P. 1273-1276.
  14. Campbell N., Rosaeg O.P. Anesthetic management of a parturient with Ehlers Danlos syndrome type IV // Can. J. Anaesth. - 2002. - Vol. 49, N 5. - P. 493-496.
  15. Charvet P.Y., Salle B., Rebaud P. Ehlers-Danlos syndrome and pregnancy. Apropos of a case //J. Gynecol. Obstet. Biol. Reprod. (Paris). - 1991. - Vol. 20, N 1. - P. 75-78.
  16. De Paepe A. et al. Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II // Am. J. Hum. Genet. - 1997. - Vol. 60. - P. 547-554.
  17. Diaz Arguello D., Reyes Cuervo H., Rojas Poceros G et al. Ehlers-Danlos syndrome in pregnancy. Report of a case and review of the literature // Ginecol. Obstet. Mex. - 1995 . - Vol. 63. - P. 253-255.
  18. Egging D.F., van Vlijmen-Willems I., Choi J. Analysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and mice // Cell Tissue Res. - 2008. - Vol. 332, N 3. - 523- 532. Epub 2008 Mar 12.
  19. Erez Y., Ezra Y., Rojansky N. Ehlers-Danlos type IV in pregnancy. A case report and a literature review //Fetal Diagn. Ther. - 2008. - Vol. 23, N 1. - P. 7-9. Epub 2007 Oct 9. Comment in: Fetal Diagn Ther. - 2008. - Vol. 24, N 1. - P. 79.
  20. Gelbmann CM, Kollinger M, Gmeinwieser J. Spontaneous rupture of liver in a patient with Ehlers Danlos disease type IV // Dig. Dis Sci. - 1997. -Vol. 42, N 8. - P.1724-1730.
  21. Germain D.P., Herrera-Guzman Y. Vascular Ehlers Danlos syndrome // Ann. Genet. - 2004. - Vol. 47, N 1. - P. 1-9.
  22. Germain D.P..Clinical and genetic features of vascular Ehlers-Danlos syndrome // Ann. Vasc. Surg. - 2002. - Vol. 16, N 3. - P. 391-397. Epub 2002 May 21.
  23. Germain D.P. Ehlers-Danlos syndrome type IV // Orphanet. J. Rare Dis. - 2007. - Vol.19, N 2. - P. 32.
  24. Gilchrist D., Schwarze U., Shields K. et al. Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives //Am. J. Med. Genet. - 1999. - Vol. 82. - P. 305-311.
  25. Hamel B. C. J., Pals G., Engels C. H. A. M. et al. Ehlers-Danlos syndrome and type III collagen abnormalities: a variable clinical spectrum // Clin. Genet. - 1998. - Vol. 53. - P. 440-446.
  26. Hamel B.C., Pals G., Engels C.H. Ehlers-Danlos syndrome and type III collagen abnormalities: a variable clinical spectrum // Clin. Genet. - 1998. - Vol. 53, N 6. - P. 440-446.
  27. Kiilholma P., Gronroos M., Nanto V. et al. Pregnancy and delivery in Ehlers-Danlos syndrome. Role of copper and zinc // Acta Obstet. Gynecol .Scand. - 1984. - Vol. 63, N 5. P. 437-439.
  28. Klipple G.L., Riordan K.K. Rare inflammatory and hereditary connective tissue diseases // Rheum. Dis. Clin .North. Am. - 1989. - Vol. 15, N 2. - P. 383- 398.
  29. Kuczkowski K.M. Ehlers-Danlos syndrome in the parturient: an uncommon disorder-common dilemma in the delivery room // Arch. Gynecol. Obstet. - 2005. - Vol. 273, N 1. - P. 60-62. Epub 2005 Oct 28.
  30. Lind J., Wallenburg H.C. Pregnancy and the Ehlers Danlos syndrome: a retrospective study in a Dutch population // Acta Obstet. Gynecol. Scand. - 2002. -Vol. 81, N 4. - P. 293-300.
  31. Loughlin J., Irven C., Hardwick L. J. Linkage of the gene that encodes the alpha-1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II) // Hum. Molec. Genet. - 1995. - N 4. - P. 649-1651.
  32. McKusick V.A. Heritable Disorders of Connective Tissues. 4th ed. Mosby. - St. Louis, Missouri, 1972.
  33. Michalickova K., Susic M., Willing M.C. Mutations of the a2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type // I. Hum. Molec. Genet. - 1998. - Vol.7, №2. - P. 249-255.
  34. Narcisi P., Richards A. J., Ferguson S. D. et al. A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637-to-serine substitution in type III collagen // Hum. Molec. Genet. - 1994. - Vol. 3. - P. 1617-1620.
  35. Nuyting L., Freund M., Lagae L. et al. Classical Ehlers Danlos Syndrome Caused by a Mutation in Type I Collagen // Am. J. Hum. Genet. - 2000. - Vol. 66. - P.1398-1402.
  36. Pepin M., Schwarze U., Superti-Furga A. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type // N. Engl. J. Med. - 2000. - Vol. 342, N 10. - P. 673-680.
  37. Perdu J., Boutouyrie P., Lahlou-Laforet K. Vascular Ehlers-Danlos syndrome //Presse Med. - 2006. -Vol. 35, N 12. - Pt 2. - P. 1864-1875.
  38. Ploeckinger B., Ulm M.R., Chalubinski K. Ehlers-Danlos syndrome type II in pregnancy //Am. J. Perinatol. - 1997. - Vol.14, N 2. - P. 99-101.
  39. Richards A.J. et al. A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II // J. Med. Genet. - 1998. - Vol. 35. - P. 846-848.
  40. Prockop D.J., Kivirikko K.I. Collagens: molecular biology, diseases, and potentials for therapy // Ann. Rev. Biochem. - 1995. - Vol. 64. - P. 403-434.
  41. Rudd N.L., Nimrod C., Holbrook K.A. et al. Pregnancy complications in type IV Ehlers-Danlos Syndrome // Fetal Diagn. Ther. - 1999. - Vol. 14, N 4. -P. 244-247.
  42. Schievink W.I., Link M.J., Piepgras D.G. et al. Intracranial aneurysm surgery in Ehlers-Danlos syndrome Type IV // Neurosurgery. - 2002. - Vol. 51, N 3. - P. 607-611; discussion 611-613.
  43. Sokolov B.P. et al. Exclusion of COL1A1, COL1A2 and COL3A1 genes as candidate genes for Ehlers Danlos syndrome type I in one large family //Hum Genet. - 1991. - Vol. 88. - P. 125-129.
  44. Sorokin Y., Johnson M.P., Rogowski N. et al. Obstetric and gynecologic dysfunction in the Ehlers-Danlos syndrome // J. Reprod. Med. - 1994. - Vol. 39, N 4. - P. 281-284.
  45. Steinmann B., Superti-Furga A., Joller-Jemelka H.I. et al. H.Ehlers-Danlos syndrome type IV-a subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen // Am. J. Med. Genet. - 1989. - Vol. 34. - P. 68-71.
  46. Steinmann B., Royce P.M., Superti-Furga A. The Ehlers-Danlos syndrome / Eds. Royce P.M., Steinmann B. Connective Tissue and its Heritable Disorders: Molecular. Genetic and Medical Aspects. - New York, 1993. - P. 351-407.
  47. Tassart S., Bernard P., Debieve F. et al. Dissection of renal artery aneurysm in a pregnant woman with Elhers-Danlos disease type IV // J. Gynecol. Obstet. Biol. Reprod. (Paris). - 2006. - Vol. 35, N 3. -P. 275-279.
  48. Taylor D.J., Wilcox I., Russell J.K. Ehlers-Danlos syndrome during pregnancy: a case report and review of the literature // Obstet. Gynecol. Surv. - 1981. -Vol. 36, N 6. - P. 277-281.
  49. Viljoe D., Goldblat J., Thompson D. et al. Ehlers Danlos syndrome: yet another type? //Clin. Genet. - 1987. - Vol. 32. - P. 196-201.
  50. Volkov N., Nisenblat V., Ohel G. et al. Ehlers-Danlos syndrome: insights on obstetric aspects // Obstet. Gynecol. Surv. - 2007. - Vol. 62, N 1. - P. 51-57.
  51. Weinbaum P.J, Cassidy S.B, Campbell W.A. et al. Pregnancy management and successful outcome of Ehlers-Danlos syndrome type IV // Am. J. Perinatol. - 1987. - Vol. 4, N 2. - P. 134-137.
  52. Yamashita M., Narita M., Ishihara H. et al. Uterine rupture in a case with Ehlers-Danlos syndrome type IV-anesthetic considerations //Middle East J. Anesthesiol. - 1987. - Vol. 9, N 3. - P. 277-281.
  53. Yen J.L., Lin S.P., Chen M.R. et al. Clinical features of Ehlers-Danlos syndrome // J. Formos. Med. Assoc. - 2006. - Vol. 105, N 6. - P. 475-480.

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