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Marfan's Syndrome
- congenital disorder of connective tissue
Features
- high-arched palate
- span > height
- arachnodactyly
- risk of aortic dissection
Affects
- heart
- aortic aneurysm
- aortic dissection
- mitral valve prolapse
- eye
- dislocated lenses
- retinal detachment
- skeleton
- tall, thin body
- long arms, legs and fingers
- scoliosis
- pectus deformity
Measurement
- beta-blockers slow progression of aortic dilatation
- life style advice
- avoidance of high exertion sports
- sedentary jobs
- yearly echocardiograms until aorta >4.5cm
- 6-monthly 4.5-5 cm
- >5 cm → surgeons
- pregnancy
- avoid if aorta over 4 cm with aortic regurgitation
- caesarian section at 39 weeks preferred
- beta-blockers safe
- genetic counselling
- 50-50 chance of inheritance
- 25% new mutations
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