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    Intracranial Arterial Tortuosity in Marfan Syndrome and Loeys-Dietz Syndrome: Tortuosity Index Evaluation Is Useful in the Differential Diagnosis | American Journal of Neuroradiology  
    



















    































    
  
  




    
    

  

      


    

      

  
  
  

    

  

    

  

                
    

      

  

    

  
      
  
  

    


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Research ArticlePediatrics

  
      

  
      
Intracranial Arterial Tortuosity in Marfan Syndrome and Loeys-Dietz Syndrome: Tortuosity Index Evaluation Is Useful in the Differential Diagnosis
  
    	
L. Spinardi, G. Vornetti, S. De Martino, R. Golfieri, L. Faccioli, M. Pastore Trossello, C. Graziano, E. Mariucci and A. Donti

  
    	
American Journal of Neuroradiology October 2020,  41 (10) 1916-1922; DOI: https://doi.org/10.3174/ajnr.A6732 

  
  
  



  


  
  



			

		

	
	
 	
	  
  

		
		

			

			  

  
      
  
  

    
  


  
  



  
      
  
  

    

  

    

  
      
  
  

    
References
  1. 1.↵
    1. Ciurică  S, 
    2. Lopez-Sublet  M, 
    3. Loeys  BL, et al
    . Arterial tortuosity. Hypertension 2019;73:951–60 doi:10.1161/HYPERTENSIONAHA.118.11647 pmid:30852920
    CrossRefPubMed
  2. 2.↵
    1. Del Corso  L, 
    2. Moruzzo  D, 
    3. Conte  B, et al
    . Tortuosity, kinking, and coiling of the carotid artery: expression of atherosclerosis or aging? Angiology 1998;49:361–71 doi:10.1177/000331979804900505 pmid:9591528
    CrossRefPubMedWeb of Science
  3. 3.↵
    1. Pancera  P, 
    2. Ribul  M, 
    3. Presciuttini  B, et al
    . Prevalence of carotid artery kinking in 590 consecutive subjects evaluated by echocolordoppler. Is there a correlation with arterial hypertension? J Intern Med 2000;248:7–12 doi:10.1046/j.1365-2796.2000.00611.x
    CrossRefPubMedWeb of Science
  4. 4.↵
    1. Cha  KS, 
    2. Kim  MH, 
    3. Kim  HJ
    . Prevalence and clinical predictors of severe tortuosity of right subclavian artery in patients undergoing transradial coronary angiography. Am J Cardiol 2003;92:1220–22 doi:10.1016/j.amjcard.2003.07.038 pmid:14609604
    CrossRefPubMedWeb of Science
  5. 5.↵
    1. Morris  SA, 
    2. Orbach  DB, 
    3. Geva  T, et al
    . Increased vertebral artery tortuosity index is associated with adverse outcomes in children and young adults with connective tissue disorders. Circulation 2011;124:388–96 doi:10.1161/CIRCULATIONAHA.110.990549 pmid:21730308
    Abstract/FREE Full Text
  6. 6.↵
    1. Chu  LC, 
    2. Haroun  RR, 
    3. Beaulieu  RJ, et al
    . Carotid artery tortuosity index is associated with the need for early aortic root replacement in patients with Loeys-Dietz syndrome. J Comput Assist Tomogr 2018;42:747–53 doi:10.1097/RCT.0000000000000764 pmid:29901510
    CrossRefPubMed
  7. 7.↵
    1. Welby  JP, 
    2. Kim  ST, 
    3. Carr  CM, et al
    . Carotid artery tortuosity is associated with connective tissue diseases. AJNR Am J Neuroradiol 2019;40:1738–43 doi:10.3174/ajnr.A6218 pmid:31558499
    Abstract/FREE Full Text
  8. 8.↵
    1. Loeys  BL, 
    2. Chen  J, 
    3. Neptune  ER, et al
    . A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005;37:275–81 doi:10.1038/ng1511 pmid:15731757
    CrossRefPubMedWeb of Science
  9. 9.↵
    1. Loeys  BL, 
    2. Schwarze  U, 
    3. Holm  T, et al
    . Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006;355:788–98 doi:10.1056/NEJMoa055695 pmid:16928994
    CrossRefPubMedWeb of Science
  10. 10.↵
    1. Beyens  A, 
    2. Albuisson  J, 
    3. Boel  A, et al
    . Arterial tortuosity syndrome: 40 new families and literature review. Genet Med 2018;20:1236–45 doi:10.1038/gim.2017.253 pmid:29323665
    CrossRefPubMed
  11. 11.↵
    1. Morris  SA
    . Arterial tortuosity in genetic arteriopathies. Curr Opin Cardiol 2015;30:587–93 doi:10.1097/HCO.0000000000000218 pmid:26398550
    CrossRefPubMed
  12. 12.↵
    1. MacCarrick  G, 
    2. Black  JH   III., 
    3. Bowdin  S, et al
    . Loeys-Dietz syndrome: a primer for diagnosis and management. Genet Med 2014;16:576–87 doi:10.1038/gim.2014.11 pmid:24577266
    CrossRefPubMed
  13. 13.↵
    1. Meester  JAN, 
    2. Verstraeten  A, 
    3. Schepers  D, et al
    . Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. Ann Cardiothorac Surg 2017;6:582–94 doi:10.21037/acs.2017.11.03 pmid:29270370
    CrossRefPubMed
  14. 14.↵
    1. Johnson  PT, 
    2. Chen  JK, 
    3. Loeys  BL, et al
    . Loeys-Dietz syndrome: MDCT angiography findings. AJR Am J Roentgenol 2007;189:W29–35 doi:10.2214/AJR.06.1316 pmid:17579132
    CrossRefPubMedWeb of Science
  15. 15.↵
    1. Rodrigues  VJ, 
    2. Elsayed  S, 
    3. Loeys  BL, et al
    . Neuroradiologic manifestations of Loeys-Dietz syndrome type 1. AJNR Am J Neuroradiol 2009;30:1614–19 doi:10.3174/ajnr.A1651 pmid:19556353
    Abstract/FREE Full Text
  16. 16.↵
    1. Halper  J
    1. Van Laer  L, 
    2. Dietz  H, 
    3. Loeys  B
    . Loeys-Dietz syndrome. In: Halper  J, eds. Progress in Heritable Soft Connective Tissue Diseases. Dordrecht: Springer-Verlag; 2014:95–105
  17. 17.↵
    1. Kim  ST, 
    2. Brinjikji  W, 
    3. Lanzino  G, et al
    . Neurovascular manifestations of connective-tissue diseases: a review. Interv Neuroradiol 2016;22:624–37 doi:10.1177/1591019916659262 pmid:27511817
    CrossRefPubMed
  18. 18.↵
    1. Spinardi  L, 
    2. Mariucci  E, 
    3. Vornetti  G, et al
    . High prevalence of arterial dissection in patients with Loeys–Dietz syndrome and cerebral aneurysm. Vasc Med 2020;25:218–20 doi:10.1177/1358863X19900923 pmid:32129152
    CrossRefPubMed
  19. 19.↵
    1. Hager  A, 
    2. Kaemmerer  H, 
    3. Rapp-Bernhardt  U, et al
    . Diameters of the thoracic aorta throughout life as measured with helical computed tomography. J Thorac Cardiovasc Surg 2002;123:1060–66 doi:10.1067/mtc.2002.122310 pmid:12063451
    CrossRefPubMedWeb of Science
  20. 20.↵
    1. Kliś  KM, 
    2. Krzyżewski  RM, 
    3. Kwinta  BM, et al
    . Computer-aided analysis of middle cerebral artery tortuosity: association with aneurysm development. J Neurosurg 2019;130:1478–84 doi:10.3171/2017.12.JNS172114 pmid:29775150
    CrossRefPubMed
  21. 21.↵
    1. Diedrich  KT, 
    2. Roberts  JA, 
    3. Schmidt  RH, et al
    . Medical record and imaging evaluation to identify arterial tortuosity phenotype in populations at risk for intracranial aneurysms. AMIA Annu Symp Proc 2011;2011:295–304 pmid:22195081
    PubMed
  22. 22.↵
    1. Brooke  BS, 
    2. Habashi  JP, 
    3. Judge  DP, et al
    . Angiotensin II blockade and aortic-root dilation in Marfan’s syndrome. N Engl J Med 2008;358:2787–95 doi:10.1056/NEJMoa0706585 pmid:18579813
    CrossRefPubMedWeb of Science
  23. 23.↵
    1. Kono  AK, 
    2. Higashi  M, 
    3. Morisaki  H, et al
    . High prevalence of vertebral artery tortuosity of Loeys-Dietz syndrome in comparison with Marfan syndrome. Jpn J Radiol 2010;28:273–77 doi:10.1007/s11604-010-0420-6 pmid:20512544
    CrossRefPubMed
  24. 24.↵
    1. Pepe  G, 
    2. Giusti  B, 
    3. Sticchi  E, et al
    . Marfan syndrome: current perspectives. Appl Clin Genet 2016;9:55–65 doi:10.2147/TACG.S96233 pmid:27274304
    CrossRefPubMed
  25. 25.↵
    1. Franken  R, 
    2. El Morabit  A, 
    3. de Waard  V, et al
    . Increased aortic tortuosity indicates a more severe aortic phenotype in adults with Marfan syndrome. Int J Cardiol 2015;194:7–12 doi:10.1016/j.ijcard.2015.05.072 pmid:26005802
    CrossRefPubMed
  26. 26.↵
    1. Vorobtsova  N, 
    2. Chiastra  C, 
    3. Stremler  MA, et al
    . Effects of vessel tortuosity on coronary hemodynamics: an idealized and patient-specific computational study. Ann Biomed Eng 2016;44:2228–39 doi:10.1007/s10439-015-1492-3 pmid:26498931
    CrossRefPubMed
  27. 27.↵
    1. Peng  YF, 
    2. Zhang  HL, 
    3. Zhang  DP, et al
    . Perfusion by delayed time to peak in vertebrobasilar dolichoectasia patients with vertigo. Ann Clin Transl Neurol 2018;5:1562–73 doi:10.1002/acn3.665 pmid:30564622
    CrossRefPubMed
  28. 28.↵
    1. Jondeau  G, 
    2. Ropers  J, 
    3. Regalado  E, et al
    . International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: results of the MAC (Montalcino Aortic Consortium). Circ Cardiovasc Genet 2016;9:548–58 doi:10.1161/CIRCGENETICS.116.001485 pmid:27879313
    Abstract/FREE Full Text
  29. 29.↵
    1. Labeyrie  P-E, 
    2. Braud  F, 
    3. Gakuba  C, et al
    . Cervical artery tortuosity is associated with intracranial aneurysm. Int J Stroke 2017;12:549–52 doi:10.1177/1747493016687577 pmid:28073311
    CrossRefPubMed
  30. 30.↵
    1. Kim  BJ, 
    2. Lee  SH, 
    3. Kwun  BD, et al
    . Intracranial aneurysm is associated with high intracranial artery tortuosity. World Neurosurg 2018;112:e876–80 doi:10.1016/j.wneu.2018.01.196 pmid:29425982
    CrossRefPubMed
  31. 31.↵
    1. Loeys  BL, 
    2. Dietz  HC, 
    3. Braverman  AC, et al
    . The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010;47:476–85 doi:10.1136/jmg.2009.072785 pmid:20591885
    Abstract/FREE Full Text
  


  
  



  




  


  
  



  
      
  
  

    
  


  
  



  
      
  
  

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Intracranial Arterial Tortuosity in Marfan Syndrome and Loeys-Dietz Syndrome: Tortuosity Index Evaluation Is Useful in the Differential Diagnosis
  
    	
L. Spinardi, G. Vornetti, S. De Martino, R. Golfieri, L. Faccioli, M. Pastore Trossello, C. Graziano, E. Mariucci, A. Donti

  
    	
American Journal of Neuroradiology Oct 2020, 41 (10) 1916-1922; DOI: 10.3174/ajnr.A6732 

  
  
  



  


  
  



  
      
  
  

    

  
    
  
  
    
  
  
    
  


  


  
  



  
      
  
  

    
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