Marfan's disease Flashcards
What is Marfan syndrome?
Inherited CTD
An autosomal dominant condition
Which protein is affected?
Fibrilin
Marfan syndrome affects the gene responsible for making fibrilin
What are the features of Marfan syndrome?
Tall stature
Long neck
Long limbs
Long finger (arachnodactyly)
High arch palate
Hypermobility
Pectus carinatum or pectus excavatum
Downward sloping palpable fissures
What 2 tests for arachnodactyly?
- Ask them to cross their thumb across their palm - if it goes past the opposite edge of the hand this indicate arachnodactyly
- Ask them to wrap the thumb and fingers of one hand around the other wrist - if the thumb and fingers overlaps this also indicates arachnodactyly
What are the associated conditions with Marfan syndrome?
Lens dislocation in the eye
Joint dislocations and pain due to hypermobility
Scoliosis of the spine
Pneumothorax
GORD
Mitral valve prolapse (with regurgitation)
Aortic valve prolapse (with regurgitation)
Aortic aneurysms
What is the Mx of Marfan syndrome?
Minimise BP and HR - minimises stress on the heart + risk of complications
Achieve by lifestyle changes, such as avoiding intense exercise and avoiding caffeine and other stimulants
Preventative medications include e.g., beta-blockers and angiotensin II receptor antagonists - help reduce the risk of complications
Physiotherapy - can be helpful in strengthening joints and reducing symptoms from hypermobility
Genetic counselling - important in considering the implications of having children that may be affected condition
Regular reviews - yearly echos and review by an ophthalmologist
What is the greatest risk associated with Marfan’s?
Cardiac complications esp:
- valve prolapse
- aortic aneurysms
If these occur they may require surgical correction
Why does pregnancy have to be carefully considered in Marfan?
Significant risk of aortic aneurysms
Sources
https://zerotofinals.com/paediatrics/genetics/marfan/
