Marfan syndrome Flashcards
what kind of inheritance
autosomal dominant
where does it affect
- heart
- blood vessels
- eye
- skeleton
what are characteristics of their skeleton
- tall
- thin
- long arms, legs and fingers
how can diagnosis be confirmed
studying family linkages
what mutations are there
MFS1
FBN1
on chromosome 15q21
what is the histological examination show
widespread medial degeneration = cystic medial necrosis
what investigations
- CXR
- ECG
- echo
- CT
what is seen on CXR
- signs aortic aneurysm
- widened mediastinum
what is seen on ECG
can be misleading normals
- arrhythmia
- premature ventricular and atrial arrhythmias
what is seen on echo
- mitral valve prolapse
- mitral regurgitation
- aortic root diameter
what is seen on CT
aortic dilatation
treatment
- beta blocker
- ARB
- lifestyle
- monitoring
what does beta blocker do
slows the rate of dilatation of the aortic root
what is standard therapy
atenolol
what does ARB inhibit
TNF-beta
what lifestyle adaptations should be made
- no sport that have prolonged exertion
- not so strenuous
what should be done through pregnancy
- echo performed every 6-8 weeks
- blood pressure monitored
- caesarean should be performed
- beta blocker continued throughout
what chance of inheritance
50:50
can it be spontaneous
yes it can occur as mutation in gene 5
