MarfanÂ’s syndrome is an autosomal dominant connective tissue disorder. Connective tissue strengthens the body structures. It is characterized by the mutations in gene FBN-1. Glycoprotein fibrillin-1 is encoded by FBN-1. Fibrillin-1 contributes to formation of elastin and the extracellular matrix. Blood vessels are commonly affected by this syndrome as connective tissue is present abundantly in them. Their elasticity gets altered which later results in aneurysm and rupture.
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Last date updated on December, 2020