Marfan syndrome Flashcards
1
Q
what kind of inheritance
A
autosomal dominant
2
Q
where does it affect
A
- heart
- blood vessels
- eye
- skeleton
3
Q
what are characteristics of their skeleton
A
- tall
- thin
- long arms, legs and fingers
4
Q
how can diagnosis be confirmed
A
studying family linkages
5
Q
what mutations are there
A
MFS1
FBN1
on chromosome 15q21
6
Q
what is the histological examination show
A
widespread medial degeneration = cystic medial necrosis
7
Q
what investigations
A
- CXR
- ECG
- echo
- CT
8
Q
what is seen on CXR
A
- signs aortic aneurysm
- widened mediastinum
9
Q
what is seen on ECG
A
can be misleading normals
- arrhythmia
- premature ventricular and atrial arrhythmias
10
Q
what is seen on echo
A
- mitral valve prolapse
- mitral regurgitation
- aortic root diameter
11
Q
what is seen on CT
A
aortic dilatation
12
Q
treatment
A
- beta blocker
- ARB
- lifestyle
- monitoring
13
Q
what does beta blocker do
A
slows the rate of dilatation of the aortic root
14
Q
what is standard therapy
A
atenolol
15
Q
what does ARB inhibit
A
TNF-beta
