Marfan's Syndrome Flashcards
1
Q
Where is the mutation of Marfan’s found?
A
Ch 15 Fibrilligen gene
2
Q
How is Marfans diagnosed?
A
Ghent criteria:
3
Q
Outline the Ghent criteria
A
A major Criterion in >2 systems
OR
A major criterion in 1 system +
Involvement of second +
1st degree relative with Dx
4
Q
Name 5 common MSk features of Marfan’s
A
Tall
High arch palate
Pectus excavatum/ carinatum
Scoliosis
Arachnodactyly
Joint laxity
Pes planus
5
Q
Name the cardiac features of Marfan’s
A
Aortic root dilation
Aortic root disection
Mitral valve prolapse
6
Q
Name the pulmonary features of Marfan’s
A
Spontaneous pneumothorax
Apical blebs on CXR
7
Q
What is the vision affliction associated with Marfan’s
A
Upwards lens dislocation (up and out)
Myopia
8
Q
A
