Pathophysiology
Clinical meaning
Marfan syndrome results from mutations in the FBN1 gene encoding fibrillin-1, a glycoprotein essential for elastic fiber integrity. Defective fibrillin leads to dysregulated TGF-beta signaling, causing progressive aortic root dilation, mitral valve prolapse, and aortic dissection risk. The clinician must manage lifelong cardiovascular surveillance and determine timing for prophylactic surgery.
