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Flashcards in Marfan's Deck (11):
1

Which protein is defective in Marfan syndrome?

fibrillin

2

Which gene is affected in Marfan syndrome?

fibrillin 1 gene

3

if Marfan is genetically inherited (75% is inherited), what kind of inherited pattern is it?

autosomal dominant

4

what might we see in a histological specimen of the aorta of a patient with Marfan's?

cystic medial degeneration

5

what are some CV manifestations of Marfan's?

Mitral valve prolapse, sudden arrhythmias, aortic dissection, aortic regurgitation

6

what are some general manifestations of Marfan's?

high arched palate, long fingers, limb hyper mobility, hyper laxity of joints, thoracic kyphosis, scoliosis, lens dislocation

7

what is the medical term of long fingers?

arachnodactyly

8

what is the name of the criteria that we use to clinically diagnose Marfan's?

Ghent criteria

9

how might we investigate for Marfan's?

Genetic testing for FBN1 mutation

10

what are the two clinical signs we can elicit in Marfan's?

1. positive thumb sign (stein berg)
2. positive wrist sign

11

what sort of protein is fibrillin?

Extracellular matrix protein