MARFAN SYNDROME WITH PLEURAL EFFUSION
Journal Title: European Journal of Biomedical and Pharmaceutical Sciences - Year 2019, Vol 6, Issue 8
Abstract
Introduction: Marfan syndrome is rare autosomal disorder of the connective tissue affect both male and female equally, manifested with skeletal, ligamentous, orooculofacial, ophthalmic, pulmonary, neurological and most fatal cardiovascular manifestations. It share atypical features of others connective tissue diseases. Pulmonary involvement occurs less frequently. Case Report: we report a case of a 20 years old female with progressive shortness of breath over two weeks. on examination there was features suggestive of left side pleural effusion along with marfanoid habitus, chest x ray showed massive left side pleural effusion that drain by thoracocentesis. Discussion: Marfan syndrome is associated with a mutation in FBN1, the gene that encode for fibrillin-1, Fibrillin is an important component of microfibrillar system that act as a scaffold for elastogensis. Conclusion: This case illustrate that pulmonary symptoms like spontaneous pleural effusion, can manifest as initial symptom of undiagnosed Marfan syndrome.
Authors and Affiliations
Dr. Motwakil Imam Awadelkareim Imam
Keywords
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