Marfan syndrome in adulthood: a case report

Authors

  • Geovedy Martínez García Hospital Militar Central “Dr. Carlos J. Finlay”. La Habana, Cuba.
  • Gerardo Rodríguez Lemus Hospital Provincial “Agustino Neto”. Guantánamo, Cuba.

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 ophthalmologic examination were performed, after which Marfan syndrome was diagnosed, according to the clinical picture and the revised Ghent criteria.

Downloads

Download data is not yet available.

Downloads

Published

2014-10-07

How to Cite

1.
Martínez García G, Rodríguez Lemus G. Marfan syndrome in adulthood: a case report. CorSalud [Internet]. 2014 Oct. 7 [cited 2025 Jul. 12];6(4):341-5. Available from: https://revcorsalud.sld.cu/index.php/cors/article/view/123

Issue

Vol. 6 No. 4 (2014)

Section

CASE REPORTS

License

Authors who publish with this journal agree to the following terms:

    1. Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
    2. Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.