|
Marfan's syndrome Causes and Risks:
Marfan's syndrome is inherited as an autosomal dominant trait. Marfan's syndrome may appear in previously unaffected families as a spontaneous new mutation. The incidence is approximately 1 out of 10,000 people.
Marfan's may cause many skeletal defects but is most notably recognized for a tall, lanky frame with long arms and spider-fingers
(arachnodactyly), and chest abnormalities (pectus excavatum or pectus carinatum).
Common eye problems are nearsightedness ( myopia ) and dislocation of the lens of the eye. The white of the eye ( sclera ) may appear bluish in Marfan's syndrome as it does in several other diseases with skeletal abnormalities.
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:
Call Your Healthcare Provider:
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.
Pectus excavatum is a condition in which the "breast bone" (sternum) appears sunken and the chest concave. It is sometimes called "funnel chest". The majority of these cases are not associated with any other condition (isolated findings). However, some syndromes include pectus excavatum.
|
