Marfan Syndrome

Connective tissue is found throughout the body, supporting tendons, ligaments, blood vessel walls, heart valves and cartilage. (Read about "Vascular System" "The Heart and Its Valves") Marfan syndrome is a condition where the chemical makeup of the connective tissue isn't right, according to the American Heart Association. As a result, many of the structures of the body lack the stiffness and strength they should have.

What is Marfan syndrome?

Marfan syndrome is inherited, and can affect many of the body's systems, including the skeleton, lungs, eyes, skin, heart and blood vessels. (Read about "Skeletal System" "Respiratory System" "The Eye" "Skin" "The Heart & Cardiovascular System") According to the National Marfan Foundation (NMF), the syndrome affects both men and women of any ethnic group. The estimates on the number of people affected ranges from 25,000 according to National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) to the March of Dimes' (MOD) estimate of about twice that.

What causes Marfan syndrome?

According to MOD, Marfan syndrome is caused by a defect in the gene that plays an important role in the development of connective tissue. (Read about "Birth Defects") Specifically, the gene on chromosome 15 (we each have 23 pairs of chromosomes) is defective in its ability to produce an important protein called fibrillin. This protein is an important part of the connective tissue, giving it strength and elasticity. People with Marfan syndrome either don't have enough fibrillin or have faulty fibrillin, causing the connective tissue symptoms of Marfan syndrome.

According to NIAMS, the defective gene is usually inherited from one or both parents. (Read about "Genetics") A child of a person with Marfan syndrome has a 50-50 chance of inheriting the disease. A child with two unaffected parents can still develop Marfan via gene mutation. NIAMS puts the odds of that happening at 1 in 10,000. MOD says that 25 percent of Marfan cases are the result of mutation.

Symptoms of Marfan syndrome

People with Marfan syndrome show a wide range of symptoms. Not all patients have problems in all areas, and some patients may hardly show symptoms at all. Although many symptoms of Marfan syndrome overlap with other diagnoses, doctors may identify problems in the following areas:

• Bones and joints
  • curvature of the spine (scoliosis) (Read about "Curvature of the Spine")
  • abnormally shaped chest
  • loose joints
  • typically tall and slender
  • arms, legs, fingers and toes often long compared to the rest of the body
  • roof of mouth may be arched, crowding the teeth
  • flat feet
• Heart and blood vessels
  • weakened walls of major arteries (Read about "Aneurysms")
  • widening (dilation) of aorta
  • oversized or malfunctioning (prolapsed) heart valves, especially the mitral valve (Read about "The Heart and Its Valves")
• Eyes
  • near-sightedness (myopia) (Read about Myopia in "Refractive Errors")
  • problems with the lens of the eye not being centered correctly (Read about "The Eye")
• Skin
  • stretch marks, even without weight gain
  • weakness in abdominal wall

There is also an increased risk of pneumothorax or other breathing problems with Marfan. (Read about "Pneumothorax")

Diagnosing Marfan syndrome

Marfan syndrome is hard to diagnose because there isn't a single, specific test for the condition, and symptoms vary from person to person. According to NMF, diagnosis is based on a thorough physical examination with attention to the following areas:

• complete history, including family history (Read about "Family Health History")
• echocardiogram (sound wave picture) and examination by a cardiologist (heart doctor) (Read about "Cardiovascular Tests")
• slit-lamp eye examination by an ophthalmologist (eye doctor) (Read about "Glossary of Vision Terms")
• skeletal examination by an orthopedist (bone doctor) (Read about "Skeletal System")

Early diagnosis is important in the treatment of Marfan syndrome. MOD says with proper treatment, life expectancy is about 70 years.

Marfan syndrome treatments

There is no cure yet for Marfan syndrome. It's a good idea for treatment to be coordinated by a doctor familiar with the condition, since many different specialists will probably be involved in treatment over the course of a lifetime. NIAMS recommends follow up as needed for affected systems:

• annual evaluations of the skeletal system, especially during times of rapid growth
• early, regular eye examinations (Read about "Eye Exams")
• eyeglasses or lenses can usually correct visual problems, although surgery may be necessary
• regular heart check-ups and echocardiograms to check how the aorta and heart are working. Some heart problems can be managed with drugs that can help lower heart rate or blood pressure, but others may require surgery (Read about "Cardiovascular Tests" "The Heart & Its Valves" "Hypertension: High Blood Pressure")
• possible limitations on strenuous physical activities or heavy lifting
• genetic and/or psychological counseling

According to NIAMS, no vitamin supplement (Read about "Vitamins & Minerals") has been shown to help slow, cure, or prevent Marfan syndrome.

One of the biggest dangers for those with Marfan syndrome is a sudden rupture of the aorta, which is a major blood vessel leading to the heart. (Read about "The Heart & Cardiovascular System") Just such an event killed Olympic volleyball star Flo Hyman at the age of 31. At the time, she did not know that she had Marfan syndrome. Because of that danger, people with Marfan syndrome are warned against contact sports or other heavy exercise and lifting heavy objects.

What does the future hold

Although Marfan syndrome is a lifelong disorder, earlier diagnosis and advances in medical technology have improved the quality of life for people with this condition. According to NIAMS, people with Marfan syndrome can expect a near-normal lifespan. Effective and early disease management can help prevent or provide early treatment for some of the more serious physical problems caused by Marfan syndrome.

Ongoing research will continue to improve the outlook for people with Marfan syndrome. Scientists are studying family groups with the disease and they continue to research the causes of the genetic mutation, as well as the structure of the defective protein. By getting a better understanding of all these things, the effectiveness of diagnosis and treatment for Marfan syndrome may continue to improve.

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