Martínez GG, Rodríguez LG

Language: Spanish
References: 13
Page: 341-345
PDF size: 352.63 Kb.

ABSTRACT

Marfan syndrome is an autosomal dominant connective tissue disorder, caused by a defect in the fibrillin-1 gene, which plays an important role in the formation of elastic tissues. It is diagnosed on clinical grounds, some of which depend on growth. Our purpose is to describe an atypical case of Marfan syndrome in a 44 year-old-male patient, with no history of health problems, who arrives at the Emergency Department with shortness of breath, abdominal pain and great pedal edema. On physical examination, heart murmur, elevated jugular venous pressure and congestive hepatomegaly were found. Chest radiograph, transthoracic echocardiogram, and ophthal-mologic examination were performed, after which Marfan syndrome was diagnosed, according to the clinical picture and the revised Ghent criteria.

REFERENCES

1. Dietz H, Cutting G, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, et al. Marfan syndrome caused by a recurrent do novo missense mutation in the fibrillin gene. Nature. 1991;352(6333):337-9.

2. Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47(7):476-85.

3. von Kodolitsch Y, Robinson PN. Marfan syndrome: an update of genetics, medical and surgical management. Heart. 2007;93(6):755-60.

4. Lebreiro A, Martins E, Cruz C, Almeida J, Maciel MJ, Cardoso JC, et al. Marfan syndrome: clinical manifestations, pathophysiology and new outlook on drug therapy. Rev Port Cardiol. 2010;29(6):1021-36.

5. Sohn GH, Jang SY, Moon JR, Yang JH, Sung K, Ki CS, et al. The usefulness of multidetector computed tomographic angiography for the diagnosis of Marfan syndrome by Ghent criteria. Int J Cardiovasc Imaging. 2011;27(5):679-88.

6. Ammash NM, Sundt TM, Connolly HM. Marfan syndrome – diagnosis and management. Curr Probl Cardiol. 2008;33(1):7-39.

7. Jondeau G, Michel JB, Boileau C. The translational science of Marfan syndrome. Heart. 2011;97(15): 1206-14.

8. Iams HD. Diagnosis and management of Marfan syndrome. Curr Sports Med Rep. 2010;9(2):93-8.

9. Chan YC, Ting CW, Ho P, Poon JT, Cheung GC, Cheng SW. Ten-year epidemiological review of inhospital patients with Marfan syndrome. Ann Vasc Surg. 2008;22(5):608-12. 10.Ozdemir O, Olgunturk R, Kula S, Tunaoglu FS. Echocardiographic findings in children with Marfan syndrome. Cardiovasc J Afr. 2011;22(5):245-8.

10. 11.Sponseller PD, Erkula G, Skolasky RL, Venuti KD, Dietz HC. Improving clinical recognition of Marfan syndrome. J Bone Joint Surg Am. 2010;92(9):1868- 75.

11. 12.Gao LG, Yao XP, Zhang L, Hui RT, Zhou XL. Molecular analysis for diagnosis of Marfan syndrome and Marfan-associated disorders. Chin Med J. 2011;124(6):930-4.

12. 13.Pearson GD, Devereux R, Loeys B, Maslen C, Milewicz D, Pyeritz R, et al. Report of the National Heart, Lung, and Blood Institute and National Mar-fan Foundation Working Group on research in Mar-fan syndrome and related disorders. Circulation. 2008;118(7):785-91.

13. 14.Nemet AY, Assia EI, Apple DJ, Barequet IS. Current concepts of ocular manifestations in Marfan syn-drome. Surv Ophthalmol. 2006;51(6):561-75.