Skip to main content Accessibility help
×
Hostname: page-component-848d4c4894-2xdlg Total loading time: 0 Render date: 2024-06-29T19:33:45.806Z Has data issue: false hasContentIssue false

Chapter 24 - Ehlers–Danlos Syndrome

from Section 3 - Hereditary and Genetic Conditions and Malformations

Published online by Cambridge University Press:  15 June 2018

Louis Caplan
Affiliation:
Beth Israel-Deaconess Medical Center, Boston
José Biller
Affiliation:
Loyola University Stritch School of Medicine, Chicago
Get access

Summary

Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2018

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Beighton, P., 1993. The Ehlers–Danlos syndromes. In Beighton, P., ed. Heritable Disorders of Connective Tissue. 5 edn. St Louis: Mosby-Year Book, Inc., pp. 189251.Google Scholar
Bergqvist, D., Bjorck, M., & Wanhainen, A., 2013. Treatment of vascular Ehlers–Danlos syndrome: A systematic review. Annals of Surgery 258, 257–61.Google Scholar
Byers, P. H., 1994. Ehlers–Danlos syndrome: Recent advances and current understanding of the clinical and genetic heterogeneity. Journal of Investigative Dermatology 103S, 4752.CrossRefGoogle Scholar
Chuman, H., Trobe, J. D., Petty, E. M., et al., 2002. Spontaneous direct carotid-cavernous fistula in Ehlers–Danlos syndrome type IV: Two case reports and a review of the literature. Journal of Neuroophthalmology 22, 7581.CrossRefGoogle Scholar
Cikrit, D. F., Miles, J. H., & Silver, D., 1987. Spontaneous arterial perforation: The Ehlers–Danlos specter. Journal of Vascular Surgery 5, 248–55.CrossRefGoogle ScholarPubMed
Cikrit, D. F., Glover, J. R., Dalsing, M. C., & Silver, D., 2002. The Ehlers–Danlos specter revisited. Vascular and Endovascular Surgery 36, 213–17.CrossRefGoogle ScholarPubMed
Debette, S. & Markus, H. S., 2009. The genetics of cervical artery dissection: A systematic review. Stroke 40, e459–e66.CrossRefGoogle ScholarPubMed
Debette, S., Goeggel, S. B., Schilling, S., et al., 2014. Familial occurrence and heritable connective tissue disorders in cervical artery dissection. Neurology 83, 2023–31.CrossRefGoogle ScholarPubMed
Debrun, G. M., Aletich, V. A., Miller, N. R., & DeKeiser, R. J. W., 1996. Three cases of spontaneous direct carotid cavernous fistulas associated with Ehlers–Danlos syndrome type IV. Surgical Neurology 46, 247–52.CrossRefGoogle ScholarPubMed
Desal, H. A., Toulgoat, F., Raoul, S., et al., 2005. Ehlers–Danlos syndrome type IV and recurrent carotid-cavernous fistula: Review of the literature, endovascular approach, technique and difficulties. Neuroradiology 47, 300–4.CrossRefGoogle ScholarPubMed
Dohle, C. & Baehring, J. M., 2012. Multiple strokes and bilateral carotid dissections: A fulminant case of newly diagnosed Ehlers–Danlos syndrome type IV. Journal of Neurological Science 318, 168–70.CrossRefGoogle ScholarPubMed
Foulodou, P., de Kersaint-Gilly, A., Pizzanelli, J., Viarouge, M. P., & Auffray-Calvier, E., 1996. Ehlers–Danlos syndrome with a spontaneous caroticocavernous fistula occluded by detachable balloon: Case report and review of literature. Neuroradiology 38, 595–7.Google Scholar
Fox, R., Pope, F. M., Narcisi, P., et al., 1988. Spontaneous carotid cavernous fistula in Ehlers–Danlos syndrome. Journal of Neurology, Neurosurgery and Psychiatry 51, 984–6.CrossRefGoogle ScholarPubMed
Freeman, R. K., Swegle, J., & Sise, M. J., 1996. The surgical complications of Ehlers–Danlos syndrome. American Surgeon 62, 869–73.Google Scholar
Gilchrist, D., Schwarze, U., Shields, K., et al., 1999. Large kindred with Ehlers–Danlos syndrome type IV due to a point mutation (G571S) in the COLA1 gene of type III procollagen: Low risk of pregnancy complications and unexpected longevity in some affected relatives. American Journal of Medical Genetics 82, 305–11.Google Scholar
Graf, C. J., 1965. Spontaneous carotid-cavernous fistula. Archives of Neurology 13, 662–72.Google Scholar
Grond-Ginsbach, C., Schnippering, H., Hausser, I., et al., 2002. Ultrastructural connective tissue aberrations in patients with intracranial aneurysms. Stroke 33, 2192–6.CrossRefGoogle ScholarPubMed
Hainsworth, P. J. & Mendelow, A. D., 1991. Giant intracranial aneurysm associated with Marfan’s syndrome: A case report. Journal of Neurology, Neurosurgery and Psychiatry 54, 471–2.Google Scholar
Halbach, V. V., Higashida, R. T., Dowd, C. F., Barnwell, S. L., & Hieshima, G. B., 1990. Treatment of carotid-cavernous fistulas associated with Ehlers–Danlos syndrome. Neurosurgery 26, 1021–7.Google Scholar
Hamano, K., Kuga, T., Takahashi, M., et al., 1998. The lack of type III collagen in a patient with aneurysms and an aortic dissection. Journal of Vascular Surgery 28, 1104–6.CrossRefGoogle Scholar
Hammond, R. & Oligbo, N., 2012. Ehlers Danlos syndrome type IV and pregnancy. Archives of Gynecology and Obstetrics 285, 51–4.Google Scholar
Horowitz, M. B., Purdy, P., Valentine, R. J., & Morrill, K., 2000. Remote vascular catastrophes after neurovascular interventional therapy for type 4 Ehlers–Danlos syndrome. American Journal of Neuroradiology 21, 974–6.Google Scholar
Hunter, G. C., Malone, J. M., Moore, W. S., Misiorowski, D. L., & Chvapil, M., 1982. Vascular manifestations in patients with Ehlers–Danlos syndrome. Archives of Surgery 117, 495–8.Google Scholar
Imahori, S., Bannerman, R. M., Graf, C. J., & Brennan, J. C., 1969. Ehlers–Danlos syndrome with multiple arterial lesions. American Journal of Medicine 47, 967–77.Google Scholar
Kanner, A. A., Maimin, S., & Rappaport, Z. H., 2000. Treatment of spontaneous carotid-cavernous fistula in Ehlers–Danlos syndrome by transvenous occlusion with Guglielmi detachable coils. Case report and review of the literature. Journal of Neurosurgery 93, 689–92.CrossRefGoogle ScholarPubMed
Krog, M., Almgren, B., Eriksson, I., & Nordstrom, S., 1983. Vascular complications in the Ehlers–Danlos syndrome. Acta Chirurigica Scandinavica 149, 279–82.Google ScholarPubMed
Kuivaniemi, H., Prokop, D. J., Wu, Y., et al., 1993. Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: Results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients. Neurology 43, 2652–8.CrossRefGoogle ScholarPubMed
Lach, B., Nair, S. G., Russell, N. A., & Benoit, B. G., 1987. Spontaneous carotid-cavernous fistula and multiple arterial dissections in type IV Ehlers–Danlos syndrome. Journal of Neurosurgery 66, 462–7.Google Scholar
Linfante, I., Lin, E., Knott, E., Katzen, B., & Dabus, G., 2015. Endovascular repair of direct carotid-cavernous fistula in Ehlers–Danlos type IV. Journal of Neurointerventional Surgery 7, e3.Google Scholar
Lum, Y. W., Brooke, B. S., Arnaoutakis, G. J., Williams, T. K., & Black, J. H., III, 2012. Endovascular procedures in patients with Ehlers–Danlos syndrome: A review of clinical outcomes and iatrogenic complications. Annals of Vascular Surgery 26, 2533.Google Scholar
Makrygiannis, G., Loeys, B., Defraigne, J. O., & Sakalihasan, N., 2015. Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers–Danlos syndrome. European Journal of Medical Genetics 58, 634–6.Google Scholar
Mirza, F. H., Smith, P. L., & Lim, W. N., 1979. Multiple aneurysms in a patient with Ehlers–Danlos syndrome: Angiography without sequelae. American Journal of Radiology 132, 993–5.Google Scholar
Nakagawa, I., Park, H. S., Wada, T., et al., 2014. A novel approach to the treatment of a direct carotid-cavernous fistula in a patient with Ehlers–Danlos syndrome type IV. Journal of Neurointerventional Surgery, bcr2014011414.Google Scholar
North, K. N., Whiteman, D. A. H., Pepin, M. G., & Byers, P. H., 1995. Cerebrovascular complications in Ehlers–Danlos syndrome type IV. Annals of Neurology 38, 960–4.Google Scholar
Oderich, G. S., Panneton, J. M., Bower, T. C., et al., 2005. The spectrum of management and clinical outcome of Ehlers–Danlos syndrome type IV: A 30-year experience. Journal of Vascular Surgery 42, 98106.CrossRefGoogle Scholar
Ohkuchi, A., Matsubara, S., Takahashi, K., et al., 2009. Ehlers–Danlos type IV in pregnancy with a history of myocardial infarction. Journal of Obstetrics and Gynaecology Research 35, 797800.CrossRefGoogle ScholarPubMed
Pepin, M., Schwartze, U., Superti-Furga, A., & Byers, P. H., 2000. Clinical and genetic features of Ehlers–Danlos syndrome type IV, the vascular type. New England Journal of Medicine 342, 673–80.CrossRefGoogle ScholarPubMed
Pepin, M. G., Schwarze, U., Rice, K. M., et al., 2014. Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV). Genetics in Medicine 16, 881–8.CrossRefGoogle ScholarPubMed
Pickup, M. J. & Pollanen, M. S., 2011. Traumatic subarachnoid hemorrhage and the COL3A1 gene: Emergence of a potential causal link. Forensic Science, Medicine and Pathology 7, 192–7.Google Scholar
Pollock, J. S., Custer, P. L., Hart, W. M., Smith, M. E., & Fitzpatrick, M. M., 1997. Ocular complications in Ehlers–Danlos syndrome type IV. Archives of Ophthalmology 115, 416–19.Google Scholar
Roach, E. S. 1989. Congenital cutaneovascular syndromes. In Vinken, P. J. et al., eds. Handbook of Clinical Neurology: Vascular Diseases Volume 11. Amsterdam: Elsevier, pp. 443–62.Google Scholar
Rubinstein, M. K. & Cohen, N. H., 1964. Ehlers–Danlos syndrome associated with multiple intracranial aneurysms. Neurology 14, 125–32.CrossRefGoogle ScholarPubMed
Schievink, W. I., Limburg, M., Oorthuys, J. W., Fleury, P., & Pope, F. M., 1990. Cerebrovascular disease in Ehlers–Danlos syndrome type IV. Stroke 21, 626–32.Google Scholar
Schievink, W. I., Piepgras, D. G., Earnest, F., & Gordon, H., 1991. Spontaneous carotid-cavernous fistulae in Ehlers–Danlos syndrome Type IV. Case report. Journal of Neurosurgery 74, 991–8.CrossRefGoogle ScholarPubMed
Schoolman, A. & Kepes, J. J., 1967. Bilateral spontaneous carotid-cavernous fistulae in Ehlers–Danlos syndrome. Journal of Neurosurgery 26, 82–6.Google Scholar
Sheiner, N. M., Miller, N., & Lachance, C., 1985. Arterial complications of Ehlers–Danlos syndrome. Journal of Cardiovascular Surgery 26, 291–6.Google Scholar
Sobey, G., 2015. Ehlers–Danlos syndrome: How to diagnose and when to perform genetic tests. Archives of Disease in Childhood 100, 5761.Google Scholar
Stehbens, W. E., Delahunt, B., & Hilless, A. D., 1989. Early berry aneurysm formation in Marfan’s syndrome. Surgical Neurology 31, 200–2.Google Scholar
Zimmerman, C. F., Batjer, H. H., Purdy, P., et al., 1994. Ehlers–Danlos syndrome type IV: Neuro-ophthalmic manifestations and management. Ophthalmology 101S, 133.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×