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Charchian É.R.

RNTsKh im. akad. B.V. Petrovskogo RAMN

Stepanenko A.B.

RNTsKh im. akad. B.V. Petrovskogo RAMN, Moskva

Breshenkov D.G.

Aortic Surgery Department of Petrovsky Russian Research Center for Surgery, Moscow, Russia

Rumyantseva V.A.

Laboratory of medical genetics of Petrovsky Russian Research Center for Surgery, Moscow, Russia

Rogozhina Yu.A.

Laboratory of medical genetics of Petrovsky Russian Research Center for Surgery, Moscow, Russia

Zakliaz'minskaia E.V.

FGBU RNTsKh im. akad. B.V. Petrovskogo RAMN

Fedorov D.N.

RNTsKh im. akad. B.V. Petrovskogo RAMN, Moskva

Diagnosis and surgical treatment of patients with vascular type of Ehlers—Danlos syndrome

Authors:

Charchian É.R., Stepanenko A.B., Breshenkov D.G., Rumyantseva V.A., Rogozhina Yu.A., Zakliaz'minskaia E.V., Fedorov D.N.

More about the authors

Journal: Russian Journal of Cardiology and Cardiovascular Surgery. 2017;10(6): 79‑84

DOI: 10.17116/kardio201710679-84

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Table of contents

DIAGNOSIS AND SURGICAL TREATMENT OF PATIENTS WITH VASCULAR TYPE OF EHLERS—DANLOS SYNDROME
DIAGNOSIS AND SURGICAL TREATMENT OF PATIENTS WITH VASCULAR TYPE OF EHLERS—DANLOS SYNDROME

To cite this article:

Charchian ÉR, Stepanenko AB, Breshenkov DG, Rumyantseva VA, Rogozhina YuA, Zakliaz'minskaia EV, Fedorov DN. Diagnosis and surgical treatment of patients with vascular type of Ehlers—Danlos syndrome. Russian Journal of Cardiology and Cardiovascular Surgery. 2017;10(6):79‑84. (In Russ.)
https://doi.org/10.17116/kardio201710679-84

Подписка 2025-2 (Russian Journal of Cardiology and Cardiovascular Surgery)
 
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Keywords:

vascular type of Ehlers—Danlos syndrome
diagnosis and surgical treatment

Authors:

Charchian É.R.

RNTsKh im. akad. B.V. Petrovskogo RAMN

Stepanenko A.B.

RNTsKh im. akad. B.V. Petrovskogo RAMN, Moskva

Breshenkov D.G.

Aortic Surgery Department of Petrovsky Russian Research Center for Surgery, Moscow, Russia

Rumyantseva V.A.

Laboratory of medical genetics of Petrovsky Russian Research Center for Surgery, Moscow, Russia

Rogozhina Yu.A.

Laboratory of medical genetics of Petrovsky Russian Research Center for Surgery, Moscow, Russia

Zakliaz'minskaia E.V.

FGBU RNTsKh im. akad. B.V. Petrovskogo RAMN

Fedorov D.N.

RNTsKh im. akad. B.V. Petrovskogo RAMN, Moskva

List of references:

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  2. Stepanenko AB, Belov YuV, Komarov RN, Stognii NYu. Khirurgicheskoe lechenie anevrizmy verkhnei bryzheechnoi arterii i stenoza terminal'nogo otdela aorty u rebenka 12 let. Kardiologiya i serdechno-sosudistaya khirurgiya. 2010;4:6: 83-87.
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  4. Sampson UKA, et al. Global and regional burden of aortic dissection and aneurysms: mortality trends in 21 world regions, 1990 to 2010. Glob Heart. 2014;9:1:171-180.
  5. Germain DP. Ehlers—Danlos syndrome type IV. Orphanet J Rare Dis. 2007;2:32.
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  10. Beridze N, Frishman WH. Vascular Ehlers—Danlos syndrome: pathophysiology, diagnosis, and prevention and treatment of its complications. Cardiol Rev. 2012 Jan-Feb;20(1):4-7.
  11. Eagleton MJ. Arterial complications of vascular Ehlers—Danlos syndrome. J Vasc Surg. 2016;3:1-12.
  12. Gogin EE, Belov YuV, Teterin VP, Gordeev AV. Sluchai sindroma Elersa—Danlo s posledovatel'nym obrazovaniem anevrizm bedrennoi, obshchei sonnoi arterii i aorty. Terapevticheskii arkhiv. 2003;75:4:60-62.
  13. Jocelyn C, Fenves AZ. Understanding vascular-type Ehlers—Danlos syndrome and avoiding vascular complications. Proc (Bayl Univ Med Cent). 2017;30(1):52-53. https://eds.gene.le.ac.uk
  14. Muller G, Hansen U, Xu Z. et al. Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers—Danlos syndrome in human fibroblasts. FASEB J. 2012;26:668-677.
  15. Weerakkody RA, Vandrovcova J, Kanonidou C, et al. Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers—Danlos syndrome. Genet Med. 2016 Nov;18(11):1119-1127.
  16. Mizuno K, Boudko S, Engel J, Bachinger HP. Vascular Ehlers-Danlos syndrome mutations in type III collagen differently stall the triple helical folding. J Biol Chem. 2013;288(26):66-76.
  17. Batagini NC, Gornik H, Kirksey L. Spontaneous splenic rupture in vascular Ehlers—Danlos syndrome. Vascular and Endovascular Surgery. 2015;49(5-6):152-154.
  18. Abayazeed, Hayman E, Moghadamfalahi M, Cain D. Vascular type Ehlers—Danlos syndrome with fatal spontaneous rupture of a right common iliac artery dissection: case report and review of literature. Radiology Case. 2014 Feb;8(2):63-69.
  19. Brooke BS, Arnaoutakis G, McDonnell NB, Black JHIII. Contemporary management of vascular complications associated with Ehlers—Danlos syndrome. J Vasc Surg. 2010;51:131-139.
  20. Bade MA, Queral LA, Mukherjee D, Kong LS. Endovascular abdominal aortic aneurysm repair in a patient with Ehlers—Danlos syndrome. J Vasc Surg. 2007;46:360-362.
  21. Geisbüsch P, Kotelis D, von Tengg-Kobligk H, Hyhlik-Dürr A, Allenberg JR, Böckler D. Thoracic aortic endografting in patients with connective tissue diseases. J Endovasc Ther. 2008;15:144-149.
  22. Wiesmann Т,Castori M, Malfait F, Wulf H. Recommendations for anesthesia and perioperative management in patients with Ehlers—Danlos syndrome(s). Orphanet Journal of Rare Diseases. 2014;9:109.
  23. De Paepe A, Malfait F. Bleeding and bruising in patients with Ehlers—Danlos syndrome and other collagen vascular disorders. British Journal of Haematology. 2004;127:491-500.
  24. Dolan P, Sisko F, Reley E. Anaesthetic considerations for Ehlers—Danlos syndrome. Anesthesiology. 1980;52:266-269.
  25. Campbell N, Rosaeg OP. Anesthetic management of a parturient with Ehlers—Danlos syndrome type IV. Canadian Journal of Anesthesia. 2002;49(5):493-496.
  26. Shalhub S, Black JH, Cecchi AC, et al. Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes. J Vasc Surg. 2014;60(1):160-169.

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