Marfan syndrome is an inheritable disorder of connective tissue (which adds strength to the body’s structures) that affects the skeletal system, cardiovascular system, eyes, and skin.
Causes, incidence, and risk factors
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.
Marfan syndrome is caused by mutations in the gene fibrillin-1. Fibrillin-1 plays an important role as the “scaffolding” for elastic tissue in the body. Disruption of such scaffolding (by mutations in fibrillin-1) thus results in changes in elastic tissues, particularly in the aorta, eye, and skin. Mutations in fibrillin-1 also cause overgrowth of the long bones of the body, resulting in the tall stature and long limbs seen in Marfan patients.
How this overgrowth happens is not well understood. 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 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.
- Family history of Marfan 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)
- Visual difficulties
- Flat feet
- Learning disability/school problems
- Thin, narrow face
- Micrognathia (small lower jaw)
- Coloboma of iris
Signs and tests
A physical examination may show:
- Joint laxity (hypermobile joints)
- Dislocation of lens (ectopia lentis)
- Malformed cornea (flat)
- Retinal detachment
There may also be signs of:
- Dilated aortic root
- Aortic regurgitation
- Dissecting aortic aneurysm
- Mitral valve prolapse
- Other aortic aneurysms (thoracic or abdominal)
- Pneumothorax (collapsed lung)
The following tests may be performed:
- Eye examination
- Fibrillin-1 mutation testing (in some individuals)
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. The goal is primarily to prevent dilatation of the aortic root. Dilatation can lead to dissection or rupture of the aorta, both serious medical conditions that can be fatal. Medication to slow the heart rate (beta blockers) can help prevent stress on the aorta. Competitive athletics and contact sports should be discouraged as well. An echocardiogram to assess the aortic root should be performed every year. In some cases, surgical replacement of the aortic root and valve is needed.
People with Marfan should have preventive antibiotics before dental procedures in order to prevent endocarditis. Pregnancy in individuals with Marfan needs to be monitored very closely because of the increased stress on the heart and aorta.
National Marfan Foundation
22 Manhasset Avenue
Port Washington, NY 11050
1-800-8-MARFAN and 516-883-8712
Lifespan is shortened somewhat because of cardiovascular complications. The survival is into the 60s, but may be extended with good care and heart surgery.
- Dissecting aortic aneurysm
- Aortic rupture
- Bacterial endocarditis
- Heart failure
Calling your health care provider
You have a family history of Marfan syndrome and are considering having children. Also call if you child has symptoms suggestive of this syndrome.
Spontaneous new mutations leading to Marfan (less than 1/3 of cases) cannot be prevented. However, for those prospective parents with a family history of Marfan syndrome, genetic counseling is recommended.
by Brenda A. Kuper, M.D.
All ArmMed Media material is provided for information only and is neither advice nor a substitute for proper medical care. Consult a qualified healthcare professional who understands your particular history for individual concerns.