Three systems are predominantly affected.
- upward lens dislocation
- retinal detachment
- tall with disproportionately long legs and arms - the span of the arms is greater than the height
- pectus excavatum
- spinal abnormalities - spondylolisthesis, scoliosis
- increased incidence of slipped upper femoral epiphysis
- generalised joint laxity with predisposition to flat feet or dislocation of patella or shoulder
Cardiovascular - affecting the aortic and mitral valves and the ascending aorta:
- dilatation of the aorta may be noted at any age, beginning at the aortic valve and usually confined to the ascending aorta
- aortic insufficiency may result from stretching of the aortic valve ring and a dissecting aneurysm of the aorta may be a terminal event. Rarely, it occurs during pregnancy
- mitral insufficiency results from redundant cusps and chordae tendineae
- other cardiac malformations have occasionally been reported
Mental development is normal.
The average lifespan of an affected individual is 40 to 50 years.
- dural ectasia is a widening or ballooning of the dural sac surrounding the
spinal cord usually at the lumbosacral level
- present in about 65% of patients with Marfan syndrome. It may cause low back pain, headaches and neurological signs such as weakness and loss of bowel and bladder function, but in many patients it is asymptomatic and rarely requires treatment. It is usually diagnosed by magnetic resonance imaging (MRI) (1)
- 1) BHF Factfile (November 2009). Marfan syndrome.