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Case Report

Marfan Syndrome: A Case Report and Review of Literature

Liza Bulsara* , Liza Bulsara* , R. B. Kothari** , Sunil Mhaske*** , Vishnu Kadam** , Amit Italiya****

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Indian Journal of Trauma and Emergency Pediatrics 7(2):p 75-79, April - June 2015. | DOI: DOI: https://dx.doi.org/10.21088/ijtep.2348.9987.7215.6

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Abstract

 Marfan Syndrome is autosomal dominant disorder, characteristically with cardiovascular, eye and skeletal, features. Mutation in fibrillin-1 on chromosome 15 is detected in 66–91% of cases. Some cases may be due to mutation in TGFbRl or TGFbR2. Prophylactic medical treatment to protect the aorta with regular follow-up helps prevent or delay serious complications. Prophylactic aortic surgery should be considered when the aortic root at the Sinus of Valsalva exceeds 5 cm.

Keywords: Marfan Syndrome; Fibrillin-1 TGFbR1 or TGFbR2.

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DOI: DOI: https://dx.doi.org/10.21088/ijtep.2348.9987.7215.6

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