Marfan syndrome. Report of a patient

Authors

  • Luis Alberto Santos Pérez Hospital Clínico Quirúrgico “Arnaldo Milián Castro”, Santa Clara, Villa Clara, Cuba
  • Eric González Fernández Hospital Clínico Quirúrgico “Arnaldo Milián Castro”, Santa Clara, Villa Clara, Cuba
  • Cándida Grisel Milián Hernández Hospital Clínico Quirúrgico “Arnaldo Milián Castro”, Santa Clara, Villa Clara, Cuba

Keywords:

Marfan syndrome, genetic diseases, inborn

Abstract

Marfan syndrome is a congenital hereditary disease (sporadic in 15-30% of cases) of connective tissue, dominant autosomal with complete penetrance, with prevalence estimated at one per 5 000 people and incidence of one per 10 000 births without racial or sex predominance. A patient with sporadic Marfan syndrome was diagnosed after being benefited with a renal transplantation. Review of the clinical manifestations syndrome of Marfan is done and criteria for diagnosis.

Downloads

Download data is not yet available.

Author Biographies

Luis Alberto Santos Pérez, Hospital Clínico Quirúrgico “Arnaldo Milián Castro”, Santa Clara, Villa Clara, Cuba

Especialista de I Grado en Medicina Interna.
Especialista de II Grado en Medicina Intensiva.
Máster en Medicina Intensiva y en Infectología Clínica. Profesor Auxiliar de la Universidad de Ciencias Médicas “Dr. Serafín Ruiz de Zárate Ruiz” de Villa Clara.

Eric González Fernández, Hospital Clínico Quirúrgico “Arnaldo Milián Castro”, Santa Clara, Villa Clara, Cuba

Especialista de I Grado en Medicina General Integral. Especialista de I Grado en Medicina Interna.
Profesor Instructor de la Universidad de Ciencias Médicas “Dr. Serafín Ruiz de Zárate Ruiz” de Villa Clara.

Cándida Grisel Milián Hernández, Hospital Clínico Quirúrgico “Arnaldo Milián Castro”, Santa Clara, Villa Clara, Cuba

Licenciada en Tecnología de la Salud.
Profesora Asistente de la Universidad de Ciencias Médicas “Dr. Serafín Ruiz de Zárate Ruiz” de Villa Clara.

References

1. Shirley ED, Sponseller PD. Marfan syndrome. J Am Acad Orthop Surg [Internet]. 2009 [citado 12 Mar 2014];17(9):572-581. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/19726741

2. Aalberts JJ, Schuurman AG, Pals G, Hamel BJ, Bosman G, Barge-Schaapveld DQ, et al. Recurrent and founder mutations in the Netherlands: extensive clinical variability y in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation. Neth Heart J [Internet]. 2010 [citado 12 Mar 2014];18(2):85-89. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2828568/

3. Williams A, Davies S, Stuart AG, Wilson DG, Fraser AG. Medical treatment of Marfan syndrome: a time for change. Heart [Internet]. 2008 [citado 2 May 2013];94(4):414-21. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/18347371

4. Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC. Angiotensin II blockade and aortic-root dilation in Marfan’s syndrome. N Engl J Med [Internet]. 2008 [citado 2 Mar 2014];358:2787-2795. Disponible en: http://www.nejm.org/doi/full/10.1056/NEJMoa0706585

5. Cook JR, Nistala H, Ramirez F. Drug-based therapies for vascular disease in Marfan syndrome: from mouse models to human patients. Mt Sinai J Med [Internet]. 2010 [citado 12 Mar 2014];77(4):366-73. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/20687182

6. Matt P, Habashi J, Carrel T, Cameron DE, Van Eyk JE, Dietz HC. Recent advances in understanding Marfan syndrome: should we now treat surgical patients with losartan? J Thorac Cardiovasc Surg [Internet]. 2008 [citado 25 Jun 2012]; 135(2):389-94. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/18242274

7. Thakur V, Rankin KN, Hartling L, Mackie AS. A systematic review of the pharmacological management of aortic root dilation in Marfan syndrome. Cardiol Young [Internet]. 2013 [citado 12 Mar 2014];23(4):568-81. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/23083542

8. De Backer J. Cardiovascular characteristics in Marfan syndrome and their relation to the genotype. Verh K Acad Geneeskd Belg [Internet]. 2009 [citado 29 Abr 2014];94(4):71(6):335-71. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/20232788

9. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genetics [Internet]. 1996 [citado 12 Mar 2014];62(4):417-26. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/8723076

10. Yuan SM, Jing H. Marfan's syndrome: an overview. Sao Paulo Med J [Internet]. 2010 [citado 12 Mar 2014];128(6):360-694. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/21308160

Downloads

How to Cite

1.
Santos Pérez LA, González Fernández E, Milián Hernández CG. Marfan syndrome. Report of a patient. Acta Méd Centro [Internet]. 2015 Dec. 23 [cited 2025 Jun. 28];9(4):46-51. Available from: https://revactamedicacentro.sld.cu/index.php/amc/article/view/292

Issue

Vol. 9 No. 4 (2015): October-December

Section

Case Reports

License

Authors who have publications with this journal agree to the following terms:

  1. Authors will retain their copyright and assign to the journal the right of first publication of their work, which will simultaneously be subject to a Creative Commons License / Attribution-Noncommercial 4.0 International (CC BY-NC 4.0) that allows third parties to share the work as long as its author and first publication in this journal are indicated.
  2. Authors may adopt other non-exclusive license agreements for distribution of the published version of the work (e.g., depositing it in an institutional repository or publishing it in a monographic volume) as long as the initial publication in this journal is indicated.
  3. Authors are allowed and encouraged to disseminate their work through the Internet (e.g., in institutional telematic archives or on their web page) before and during the submission process, which can produce interesting exchanges and increase citations of the published work. (See The effect of open access).