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Johns Hopkins Pediatric Orthopaedics
Patient Guide to Marfan Syndrome

Johns Hopkins Pediatric Orthopaedic Physicians

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What is Marfan Syndrome?

Marfan Syndrome is a genetic disorder of connective tissue (i.e. the elastic tissue in the body that holds different organs together). It is characterized by dilation of the aortic root (the first part of the major artery carrying blood from the heart to the body), problems with the heart valves, dislocation of the lens in the eye, and long, narrow fingers and toes. The condition can be fatal and has been known to cause sudden death in several prominent basketball and volleyball players.

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Paul D. Sponseller. M.D. Division Chief

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Michael C. Ain, M.D.

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John E. Tis, M.D.

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Amy E. Valasek, M.D.

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Ranjit Varghese, M.D.

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What are the causes of Marfan Syndrome?

Marfan Syndrome is a genetic disorder. The gene can be passed from any individual parent to any one of his or her children. A few children with the syndrome do not have an affected parent. In these cases, a new genetic mutation occurs in the fetus and the child tends to be more severely affected. Even in cases where the gene is passed from parent to child, the severity of the disease can vary from person to person.

About 1 in 10,000 people are affected to at least some degree by Marfan Syndrome.
The gene itself is responsible for making fibrillin which is an important component of connective tissue in the body. The gene may be affected in numerous ways and thus explains the different amount of severity found in different patients. Fibrillin is found in the wall of the aorta (explaining the dilation of the aortic root as mentioned above) and in the fibers that hold the lens of the eye in place (explaining the dislocation of the lens seen in these patients).


Colleen Cullen, CRNP
Christopher Fisher, PA-C
Rebecca Perkins, CRNP
Kristen Venuti, CRNP
Peggy Wilckens, MMS, PA-C
Mary Teresa (Tresie) Yost, FNP-C



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National Marfan
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What are the signs and symptoms of Marfan Syndrome?

In many children with Marfan Syndrome there may be few symptoms. A delay in walking or coordination, poor vision, chest pain (in the case of an abnormal aorta as mentioned above) may be present. Also, dislocation of the knees or shoulders may rarely be seen in Marfan patients because of loose ligaments.

As children grow, there are signs that they may be affected by the condition. Affected patients may be very tall and have long limbs, especially in relation to the size of their trunk.

They may also develop scoliosis (see Patient Guide to Scoliosis), kyphosis (see Patient Guide to Kyphosis), foot deformities, a caved-in chest, and extremely flexible joints.

JH Outpatient Center
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410-955-3870

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4924 Campbell Blvd, Suite 130
White Marsh, MD 21236
443-442-2080

Columbia
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Columbia, MD 21044

How is Marfan Syndrome treated?

It is very important to monitor the aorta over time. This is done by seeing a cardiologist who uses a test called an "echo" to measure the size of the aorta. If it is enlarged, there are various drugs that may be used to lower the blood pressure in the aorta. Also, these patients should avoid sports which involve heavy contact or can overwork the heart. In patients with spinal deformities, surgery or bracing may be needed (see Patient Guide to Scoliosis and Patient Guide to Kyphosis). Opthamologists (those doctors caring for the eye) can use several different procedures to treat a partially dislocated lens.

What surgery is involved in treating Marfan Syndrome?

Surgery for the spine is sometimes needed in cases of severe scoliosis or kyphosis. This involves correction with rods. Bone grafts can be used to fuse the spine so that is becomes less mobile (see Patient Guide to Scoliosis).

A cardiac surgeon can replace the aortic root and the associated valve with a graft (a prosthesis) when the aorta grows to a certain size (as measured on the echo). Without the procedure, the aorta can grow even more and break open which could be very dangerous.

What is the prognosis for patients with Marfan Syndrome?

The life expectancy for patients with this syndrome used to be under fifty years. Now, with the cardiac surgery possible for the aorta, patients can live long lives.

For more information, please consult the following web pages:

The National Marfan Foundation: http://www.marfan.org/marfan/

Johns Hopkins Department of Orthopaedic Surgery
601 N. Caroline Street
5th Floor, JH Outpatient Center (JHOC)
Baltimore, MD 21287
(443) 997-2663

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Specialties
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Sports
Oncology
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Locations
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Bayview Medical Ctr
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