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.