Marfans and Ehlers Danlos Flashcards
1
Q
What is Marfans
A
Auto Dominat FBN-1 Mutation decreasing tissue tensile strength
2
Q
What is the Marfans Body HABITUS
A
Tall and Thin
Long Fingers
Pectus Excavation (Sternum pressed in)
3
Q
What is pectus excavation
A
When the sternum is pressed in
4
Q
What are the complications of Marfans
A
Aortic complications
- Aortic Regurgitation murmur
- AAA
- Aortic dissection
5
Q
How is Marfans Diagnosed
A
Cinical exam w/ FBN-1 mutation
6
Q
What is Ehlers Danlos
A
Auto Dominant mutation of collagen proteins
7
Q
How does Ehlers Dnalos present
A
Joint HYPERMOBILITY Cardio Complications -Mitral Regurgitation -AAA -Aortic Dissection
8
Q
How is Ehlers Danlos diagnosed
A
Clinical exam w/ Collagen mutations
9
Q
What do Connective tissue disorders result in
A
Weak valves and weak vessels
