Skip to main content
SpringerLink
Log in

Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder

  • IM - CASE RECORD
  • Published:
Internal and Emergency Medicine Aims and scope Submit manuscript

    We’re sorry, something doesn't seem to be working properly.

    Please try refreshing the page. If that doesn't work, please contact support so we can address the problem.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3

References

  1. Van Laer L, Proost D, Loeys BL (2013) Educational paper. Connective tissue disorders with vascular involvement: from gene to therapy. Eur J Pediatr 172:997–1005. doi:10.1007/s00431-012-1773

    Article  PubMed Central  PubMed  Google Scholar 

  2. Maccarrick G, Black JH, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC (2014) Loeys–Dietz syndrome: a primer for diagnosis and management. Genet Med. doi:10.1038/gim.2014.11

    PubMed Central  Google Scholar 

  3. Human Gene Mutation Database. http://www.hgmd.org

  4. Ramanath VS, Oh JK, Sundt TM, Eagle KA (2009) Acute aortic syndromes and thoracic aortic aneurysm. Mayo Clin Proc 84:465–481. doi:10.1016/S0025-6196(11)60566-1

    Article  PubMed Central  PubMed  Google Scholar 

  5. Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, De Paepe AM, Dietz HC (2005) A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37:275–281. doi:10.1038/ng1511

    Article  CAS  PubMed  Google Scholar 

  6. Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC (2006) Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 355:788–798. doi:10.1056/NEJMoa055695

    Article  CAS  PubMed  Google Scholar 

  7. Arslan-Kirchner M, Epplen JT, Faivre L, Jondeau G, Schmidtke J, De Paepe A, Loeys B (2011) Clinical utility gene card for: Loeys–Dietz syndrome (TGFBR1/2) and related phenotypes. Eur J Hum Genet. doi:10.1038/ejhg.2011.68

    PubMed Central  PubMed  Google Scholar 

  8. Sousa SB, Lambot-Juhan K, Rio M, Baujat G, Topouchian V, Hanna N, Le Merrer M, Brunelle F, Munnich A, Boileau C, Cormier-Daire V (2011) Expanding the skeletal phenotype of Loeys–Dietz syndrome. Am J Med Genet A 155A:1178–1183. doi:10.1002/ajmg.a.33813

    Article  PubMed  Google Scholar 

  9. Mizuguchi T, Matsumoto N (2007) Recent progress in genetics of Marfan syndrome and Marfan-associated disorders. J Hum Genet 52:1–12. doi:10.1007/s10038-006-0078-1

    Article  CAS  PubMed  Google Scholar 

  10. Goumans MJ, Liu Z, ten Dijke P (2009) TGF-beta signaling in vascular biology and dysfunction. Cell Res 19:116–127. doi:10.1038/cr.2008.326

    Article  CAS  PubMed  Google Scholar 

  11. Maleszewski JJ, Miller DV, Lu J, Dietz HC, Halushka MK (2009) Histopathologic findings in ascending aortas from individuals with Loeys–Dietz syndrome (LDS). Am J Surg Pathol 33:194–201. doi:10.1097/PAS.0b013e31817f3661

    Article  PubMed  Google Scholar 

  12. Rodrigues VJ, Elsayed S, Loeys BL, Dietz HC, Yousem DM (2009) Neuroradiologic manifestations of Loeys–Dietz syndrome type 1. AJNR 30:1614–1619. doi:10.3174/ajnr.A1651

    Article  CAS  PubMed  Google Scholar 

  13. Pezzini A, Drera B, Del Zotto E, Ritelli M, Carletti M, Tomelleri G, Bovi P, Giossi A, Volonghi I, Costa P, Magoni M, Padovani A, Barlati S, Colombi M (2011) Mutations in TGFBR2 gene cause spontaneous cervical artery dissection. J Neurol Neurosurg Psychiatry 82:1372–1374. doi:10.1136/jnnp.2010.231902

    Article  PubMed  Google Scholar 

  14. Azhar M, JlJ Schultz, Grupp I, Dorn GW, Meneton P, Molin DG, Gittenberger-de Groot AC, Doetschman T (2003) Transforming growth factor beta in cardiovascular development and function. Cytokine Growth Factor Rev 14:391–407

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  15. Ito Y, Yeo JY, Chytil A, Han J, Bringas P, Nakajima A, Shuler CF, Moses HL, Chai Y (2003) Conditional inactivation of Tgfbr2 in cranial neural crest causes cleft palate and calvaria defects. Development 130:5269–5280. doi:10.1242/dev.00708

    Article  CAS  PubMed  Google Scholar 

  16. van der Linde D, Bekkers JA, Mattace-Raso FU, van de Laar IM, Moelker A, van den Bosch AE, van Dalen BM, Timmermans J, Bertoli-Avella AM, Wessels MW, Bogers AJ, Roos-Hesselink JW (2013) Progression rate and early surgical experience in the new aggressive aneurysms-osteoarthritis syndrome. Ann Thorac Surg 95:563–569. doi:10.1016/j.athoracsur.2012.07.009

    Article  PubMed  Google Scholar 

Download references

Conflict of interest

None.

Author information

Authors and Affiliations

  1. Emergency Department Stroke Unit, Department of Neurology and Psychiatry, Policlinico Umberto I Hospital, Sapienza University, Viale del Policlinico 155, 00161, Rome, Italy

    Alessio Pieroni, Paolo Caso, Eugenio Di Bernardini, Manuela De Michele & Danilo Toni

  2. Division of Medical Genetics, Department of Molecular Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy

    Marco Castori

  3. Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy

    Marco Ritelli & Marina Colombi

Authors
  1. Alessio Pieroni
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Marco Castori
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Paolo Caso
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Eugenio Di Bernardini
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Manuela De Michele
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Marco Ritelli
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Marina Colombi
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Danilo Toni
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Alessio Pieroni.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Pieroni, A., Castori, M., Caso, P. et al. Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder. Intern Emerg Med 10, 165–170 (2015). https://doi.org/10.1007/s11739-015-1187-7

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s11739-015-1187-7

Keywords

Search

Navigation