Marfan's Syndrome

Description

Note on Marfan's Syndrome, created by Ellie Quinn on 01/06/2014.
Ellie Quinn
Note by Ellie Quinn, updated more than 1 year ago
Ellie Quinn
Created by Ellie Quinn over 10 years ago
430
0

Resource summary

Page 1

FBN1 mutation Myopia Displacement of the lens (60%) Retinal detachment Glaucoma Cataracts Long limbs Sternum pushed in or out Scoliosis Dilatation, tear and rupture of the aorta  

Diagnosis: Series of criteria Ectopia Lentis Aortic root enlargement Systemic score: calculated from various features Genetic testing is increasingly used

Evaluation following diagnosis: Ophthalmological Skeletal manifestations Echocardiography Genetics consultation   Management: Eyes – glasses, can surgically remove and replace lens Surgical repair of aorta Monitor heart with frequent echocardiograms Avoid contact sports

Inheritance Autosomal dominant 75% inherited, 25% de novo

Clinical features

diagnosis

treatment

inheritance

Show full summary Hide full summary

Similar

SSAT Verbal Questions (Analogies)
philip.ellis
Hitler and the Nazi Party (1919-23)
Adam Collinge
Plant Structure and Photosynthesis
Evangeline Taylor
MCAT Study Plan
Alice McClean
CPA Exam Flashcards
joemontin
FCE Practice Quiz - B2
miminoma
Physics P1
Phoebe Drew
GCSE Physics Revision notes
Megan McDonald
Development of Cold War Tensions
c7jeremy
RadioTelefonia
Adriana Forero
1PR101 2.test - Část 14.
Nikola Truong