marfan syndrome

how is marfan syndrome acquired?

inherited

how is marfan syndrome inherited?

autosomal dominant

which gene does marfan syndrome affect?

FBN1 on chromosome 15

what does FBN1 do?

produces fibrillin

what is fibrillin important in?

connective tissue

what are the clinical features of marfan syndrome?

- tall stature

- long neck

- long limbs

- long fingers - arachnodactyly

- high arch palate

- hypermobility

- pectus carinatum or pectus excavatum

- downward sloping palpebral fissures

what is pectus carinatum?

pigeon chest - forward protusion of sternum

what is pectus excavatum?

funnel chest - depression of the chest inwards

how do you test for arachnodactyly?

ask pt to cross thumb across palm, if it goes past opposite edge of hand - indicates arachnodactyly

what are the conditions associated with marfan syndrome?

- lens dislocation in the eye

- joint dislocation due to hypermobility

- scoliosis of the spine

- pneumothorax

- GORD

- mitral valve prolapse (with regurgitation)

- aortic valve prolapse (with regurgitation)

- aortic aneurysms

what is the greatest risk with marfan syndrome?

associated cardiac complications - especially valve prolapse and aortic aneurysm

what is the main aim of management with marfan syndrome?

minimise blood pressure and heart rate to minimise stress on the heart and risk of complications developing

what are the lifestyle changes to reduce BP and heart rate?

- avoiding intense exercise

- avoiding caffeine

what are the preventative medications?

- beta blockers

- ARBs

what is the problem with pregnancy in marfan syndrome?

increases the risk of developing aortic aneurysms

why may physiotherapy be helpful?

strengthening joints and reducing symptoms of hypermobility

what regular follow ups should patients with marfan syndrome receive?

- echocardiograms

- ophthalmologist reviews