Marfan Syndrome - week 17 Flashcards
1
Q
what is Marfan syndrome?
A
Genetic collagen disorder
2
Q
Epidemiology of Marfan sydnrome?
A
No gender differences
Rare
Autosomal dominant
3
Q
Pathophys of Marfan’s syndrome?
A
Mutation of FBN1 gene (fibrillin)
4
Q
Presentation of Marfan syndrome?
A
Long bones
Spidery fingers
Aortic dissection
High arched palette
Lens dislocation
Myopia
hypermobile
pigeon chest
5
Q
Investigation of Marfan syndrome?
A
exam
history
genetic tests
EKG
Eye exam
GHENT criteria
6
Q
Management of Marfan Syndrome?
A
No specific treatment
Symptom management
Reduced exercise
7
Q
Prognosis of Marfan Syndrome?
A
Normal life span as treated
Fatal if untreated
