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Pathophysiology
Clinical meaning
Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene encoding fibrillin-1. Defective fibrillin weakens elastic fibers in the aorta, eyes, and skeleton, leading to aortic root dilation and risk of dissection or rupture.
Exam Focus
Exam relevance
Risk factors:
- Family history (autosomal dominant)
- Spontaneous FBN1 mutation (25% of cases)
- Tall stature with long limbs
- Joint hypermobility
- Known aortic root dilation
We didn’t match sample stems to this lesson in the bank yet. You can still run a topic-scoped drill with the same pathway filters—items load from your live NCLEX-PN pool.
