Main Campus: Chesterfield, MO 63017 | 
Marfan syndrome
Aortic aneurysm - Marfan
Marfan syndrome is a disorder of connective tissue. This is the tissue that strengthens the body's structures.
Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin.
Causes
Marfan syndrome is caused by defects in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building block for connective tissue in the body.
The gene defect also causes the long bones of the body to grow too much. People with this syndrome have tall height and long arms and legs. How this overgrowth happens is not well understood.
Other areas of the body that are affected include:
- Lung tissue (there may be a pneumothorax, in which air can escape from the lung into the chest cavity and collapse the lung)
- The aorta, the main blood vessel that takes blood from the heart to the body may stretch or become weak (called aortic dilation or aortic aneurysm)
- The eyes, causing cataracts and other problems (such as a dislocation of the lenses)
- The skin
- Tissue covering the spinal cord
In most cases, Marfan syndrome is passed down through families (inherited). However, up to 30% of people have no family history, which is called "sporadic." In sporadic cases, the syndrome is believed to be caused by a new gene change.
Symptoms
People with Marfan syndrome are very often tall with long, thin arms and legs and spider-like fingers (called arachnodactyly). The length of the arms is greater than height when arms are stretched out.
Other symptoms include:
-
A chest that sinks in or sticks out, called funnel chest (
pectus excavatum
) or pigeon breast (
pectus carinatum
)
Pectus excavatum
Pectus excavatum is a medical term that describes an abnormal formation of the rib cage that gives the chest a caved-in or sunken appearance....
ImageRead Article Now Book Mark ArticlePectus carinatum
Pectus carinatum is present when the chest protrudes over the sternum. It is often described as giving the person a bird-like appearance.
ImageRead Article Now Book Mark Article - Flat feet
- Highly arched palate and crowded teeth
- Hypotonia
- Joints that are too flexible (but the elbows may be less flexible)
- Learning disability
- Movement of the lens of the eye from its normal position (dislocation)
- Nearsightedness
- Small lower jaw (micrognathia)
-
Spine that curves to one side (
scoliosis
)
Scoliosis
Scoliosis is an abnormal curving of the spine. Your spine is your backbone. It runs straight down your back. Everyone's spine naturally curves a b...
ImageRead Article Now Book Mark Article - Thin, narrow face
Many people with Marfan syndrome suffer from chronic muscle and joint pain.
Exams and Tests
The health care provider will perform a physical exam. The joints may move around more than normal. There may also be signs of:
-
Aneurysm
Aneurysm
An aneurysm is an abnormal widening or ballooning of a portion of an artery due to weakness in the wall of the blood vessel. A thoracic aortic aneury...
ImageRead Article Now Book Mark Article - Collapsed lung
- Heart valve problems
An eye exam may show:
- Defects of the lens or cornea
-
Retinal detachment
Retinal detachment
Retinal detachment is a separation of the light-sensitive membrane (retina) in the back of the eye from its supporting layers.
ImageRead Article Now Book Mark Article - Vision problems
The following tests may be performed:
-
Echocardiogram
Echocardiogram
An echocardiogram is a test that uses sound waves to create pictures of the heart. The picture and information it produces is more detailed than a s...
ImageRead Article Now Book Mark Article - Fibrillin-1 mutation testing (in some people)
An echocardiogram or another test should be done every year to look at the base of the aorta and possibly the heart valves.
Treatment
Vision problems should be treated when possible.
Monitor for scoliosis, especially during the teenage years.
Medicine to slow the heart rate may help prevent stress on the aorta. To avoid injuring the aorta, people with the condition should avoid participating in contact sports. Some people may need surgery to replace the aortic root and valve.
People with Marfan syndrome who have heart valve conditions may need to take antibiotics before dental procedures to prevent endocarditis (infection of the valves). Pregnant women with Marfan syndrome must be monitored very closely because of the increased stress on the heart and aorta.
Support Groups
National Marfan Foundation -- www.marfan.org
Outlook (Prognosis)
Heart-related complications may shorten the lifespan of people with this disease. However, many people live into their 60s and beyond. Good care and surgery may further extend lifespan.
Possible Complications
Complications may include:
-
Aortic regurgitation
Aortic regurgitation
Aortic insufficiency is a heart valve disease in which the aortic valve does not close tightly. This allows blood to flow from the aorta (the larges...
ImageRead Article Now Book Mark Article - Aortic rupture
- Bacterial endocarditis
-
Dissecting aortic aneurysm
Dissecting aortic aneurysm
Aortic dissection is a serious condition in which there is a tear in the wall of the major artery carrying blood out of the heart (aorta). As the te...
ImageRead Article Now Book Mark Article - Enlargement of the base of the aorta
-
Heart failure
Heart failure
Heart failure is a condition in which the heart is no longer able to pump oxygen-rich blood to the rest of the body efficiently. This causes symptom...
ImageRead Article Now Book Mark Article - Mitral valve prolapse
- Scoliosis
- Vision problems
When to Contact a Medical Professional
Couples who have this condition and are planning to have children may want to talk to a genetic counselor before starting a family.
Prevention
Spontaneous new gene mutations leading to Marfan (less than one third of cases) cannot be prevented. If you have Marfan syndrome, see your provider at least once every year.
References
Doyle A, Doyle JJ, Dietz HC. Marfan syndrome. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 702.
Pyeritz RE. Inherited diseases of connective tissue. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine . 24th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 260.
-
Pectus excavatum - illustration
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 genetic conditions include pectus excavatum.
Pectus excavatum
illustration
-
Marfan's syndrome - illustration
Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, chest abnormalities, curvature of the spine and a particular set of facial features including a highly arched palate, and crowded teeth. The most significant of the defects in the syndrome are cardiovascular abnormalities, which may include enlargement (dilatation) of the base of the aorta. Since Marfan syndrome is usually an inherited disorder, prospective parents with a family history of Marfan syndrome should get genetic counseling.
Marfan's syndrome
illustration
-
Pectus excavatum - illustration
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 genetic conditions include pectus excavatum.
Pectus excavatum
illustration
-
Marfan's syndrome - illustration
Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, chest abnormalities, curvature of the spine and a particular set of facial features including a highly arched palate, and crowded teeth. The most significant of the defects in the syndrome are cardiovascular abnormalities, which may include enlargement (dilatation) of the base of the aorta. Since Marfan syndrome is usually an inherited disorder, prospective parents with a family history of Marfan syndrome should get genetic counseling.
Marfan's syndrome
illustration
Review Date: 5/5/2016
Reviewed By: Michael A. Chen, MD, PhD, Associate Professor of Medicine, Division of Cardiology, Harborview Medical Center, University of Washington Medical School, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
