Health Encyclopedia

Marfan syndrome

Definition

Marfan syndrome is a disorder of connective tissue, the tissue that strengthens the body's structures. Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin.

Causes, incidence, and risk factors

Marfan syndrome is caused by defects in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building blocks for elastic tissue in the body. A problem with this gene results in changes in elastic tissues, particularly in the aorta, eye, and skin. The gene defect also causes overgrowth of the long bones of the body. resulting in the tall height and long arms and legs seen in persons with this syndrome. How this overgrowth happens is not well understood.

In most cases, Marfan syndrome is inherited, which means it is passed down through families. However, up to 30% of cases have no family history. Such cases are called "sporadic." In sporadic cases, the syndrome is believed to result from a spontaneous new gene defect.

Symptoms

Persons with Marfan syndrome are usually tall with long, thin arms and legs and spider-like fingers -- a condition called arachnodactyly. When they stretch out their arms, the lenght of their arms is significantly greater than their height.

Other symptoms include:

Highly arched palate and crowded teeth
Nearsightedness
Dislocation of the lens of the eye
Funnel chest (pectus excavatum) or pigeon breast (pectus carinatum)
Scoliosis
Flat feet
Learning disability
Thin, narrow face
Micrognathia (small lower jaw)
Coloboma of iris
Hypotonia

Signs and tests

The doctor will perform a physical exam. There may be hypermobile joints and signs of heart valve problems, aneurysms, or a collapsed lung.

An eye exam may show vision problems, defects of the lens or cornea, or retinal detachment.

The following tests may be performed:

Echocardiogram
Fibrillin-1 mutation testing (in some individuals)

An echocardiogram should be done every year to look at the base of the aorta.

Treatment

Visual problems should be corrected when possible. Care should be taken to prevent the development of scoliosis, especially during adolescence.

Medicine to slow the heart rate may help prevent stress on the aorta. Competitive athletics and contact sports should be discouraged so that injury to the heart does not occur. In some cases, surgical replacement of the aortic root and valve is needed.

People with Marfan syndrome should take antibiotics before dental procedures in order to prevent endocarditis. 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

Expectations (prognosis)

Heart-related complications may shorten the lifespan of persons with this disease. However, many patients survive well into their 60s. The lifespan may be extended further with good care and heart surgery.

Complications

Complications may include:

Aortic regurgitation
Aortic rupture
Bacterial endocarditis
Dissecting aortic aneurysm
Enlargement of the base of the aorta
Heart failure
Mitral valve prolapse
Scoliosis
Vision problems

Calling your health care provider

Experts recommend genetic counseling for couples with a history of this syndrome who wish to have children.

Prevention

Spontaneous new mutations leading to Marfan (less than 1/3 of cases) cannot be prevented.

Review Date:5/16/2007
Reviewed By:Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.

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