2015, Number 4
<< Back Next >>
Acta Med Cent 2015; 9 (4)
Síndrome de Marfan. Reporte de un paciente
Santos PLA, González FE, Milián HCG
Language: Spanish
References: 11
Page: 46-51
PDF size: 200.22 Kb.
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.
REFERENCES
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
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/
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
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
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
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
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
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
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
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