Causes and Risks: Marfan syndrome is inherited as an autosomal dominant trait. However, up to 30% of cases have no family history and are so called 'sporadic' cases. In sporadic cases, Marfan syndrome is believed to result from a spontaneous new mutation. The incidence is approximately 2 out of 10,000 people in all ethnic groups.
Marfan syndrome causes skeletal defects typically recognized in a tall, lanky person with long limbs and spider-like fingers (arachnodactyly), chest abnormalities (pectus excavatum or pectus carinatum), curvature of the spine and a particular set of facial features including a highly arched palate, and crowded teeth.
Common eye problems are nearsightedness (myopia), and dislocation of the lens of the eye.
The most significant of the defects in the syndrome are cardiovascular abnormalities, which may include enlargement (dilatation) of the base of the aorta (aortic root), with aortic regurgitation, and prolapse of the mitral valve. Affected people may develop a dissecting aortic aneurysm.
Prevention: Spontaneous new mutations leading to Marfan’s (less than 1/3 of cases) cannot be prevented. However, for those prospective parents with a family history of Marfan’s syndrome, genetic counseling is recommended.
Symptoms:
- Family history of Marfan’s syndrome
- Long, lanky frame
- Long, thin limbs
- Armspan significantly greater than body height
- Long, spidery fingers (arachnodactyly)
- Funnel chest (pectus excavatum) or pigeon breast (pectus carinatum)
- Scoliosis
- Visual difficulties
- Flat feet
- Learning disability/school problems
- Thin, narrow face
- Micrognathia (small lower jaw)
- Coloboma of iris
- Hypotonia
Signs and Tests: Physical examination may show:
There may also be signs of:
Treatment:
There is not a single, curative treatment for this condition.
Visual defects should be corrected where possible. Care should be taken to prevent the development of scoliosis, especially during adolescence.
The cardiovascular abnormalities are the most worrisome. People with Marfan’s should have preventive antibiotics before dental procedures in order to prevent endocarditis. Pregnancy in individuals with Marfan’s needs to be monitored very closely because of the increased stress on the heart and aorta.
Children should not be involved in maximal exercise programs or sports because of concern for aortic aneurysm.
Prognosis: Lifespan is shortened somewhat because of cardiovascular complications. The survival is into the 40s, but may be extended with good care and heart surgery.
Complications:
You have a family history of Marfan’s syndrome and are considering having children. Also call if you child has symptoms suggestive of this syndrome.
