Signs and Symptoms
- very tall, slender, loose-jointed
- arms, legs, fingers, and toes may be disproportionately long
- long, narrow face, roof of mouth may be arched
- curvature in spine
- skin changes
- protruding or indented sternum
- dislocation of one or both lenses of the eyes
- problems associated with the heart and blood vessels
- dural ectasia
- pleiotropic manifestations
Marfan syndrome is an inherited connective tissue disorder transmitted as an autosomal dominant trait. Mutations in the gene for fibrillin-1 (FBN1) cause it.
- a multidisciplinary approach is necessary
- information about family members that may have had related problems
- chest x-ray
- Electrocardiagram (ECG)
- TEE, MRI, CT
Marfan Syndrome has no cure, but it can be treated.
- follow-up appointments
Medications are not used to treat Marfan Syndrome, only to prevent or control complications.
If unrecognized or left untreated, the average life expectancy for a patient with Marfan Syndrome is 45 years. However, if properly managed, patients with Marfan Syndrome can have a normal life expectancy.
Marfan Syndrome affects 1 in 10,000 to 20,000 people. It has been found in people of all races and ethnic backgrounds.