Marfan Syndrome

February 2, 2017

Marfan syndrome is a heritable disorder of the connective tissue that affects many organ systems, including the skeleton, lungs, eyes, heart and blood vessels. The condition affects both men and women of any race or ethnic group. It is estimated that at least 200,000 people in the United States have Marfan syndrome or a related connective tissue disorder.

Connective tissues provide the framework that holds the body together and play an important role in growth and development. A person with Marfan syndrome has trouble making a protein called fibrillin. The body needs fibrillin to make connective tissue strong. Because connective tissue is found throughout the body, patients with Marfan syndrome have problems with a number of systems including bones, joints, eyes, heart, blood vessels, nervous system, skin, and lungs. The effects of Marfan syndrome varies between individuals, some people only being mildly affected.

Marfan syndrome is a birth defect. Birth defects are health conditions that are present at birth. Birth defects change the shape or function of one or more parts of the body. They can cause problems in overall health, how the body develops, or in how the body works. In about 1 in 4 cases, the mutation that causes Marfan syndrome is not inherited. Thus, the affected person is the first in his or her family to have the condition.

Marfan syndrome has no cure, but treatments can help delay or prevent complications. Treatments include medicines, surgery, and other therapies. Limiting certain activities, or changing how patients do them, may help reduce the risks to the aorta, eyes, and joints. The type of treatment patients receive depends on how the condition is affecting the body.


Marfan syndrome is caused by a defect in the gene that encodes the structure of fibrillin and the elastic fibers, a major component of connective tissue. This gene is called fibrillin-1 or FBN1.

In most cases, Marfan syndrome is inherited. The pattern is called “autosomal dominant,” meaning it occurs equally in men and women and can be inherited from just one parent with Marfan syndrome. People who have Marfan syndrome have a 50 percent chance of passing along the disorder to each of their children.

In 25 percent of cases, a new gene defect occurs due to an unknown cause. Marfan syndrome is also referred to as a “variable expression” genetic disorder, because not everyone with Marfan syndrome has the same symptoms to the same degree.

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

Marfan syndrome is present at birth. However, it may not be diagnosed until adolescence or young adulthood.

Risk Factors

Marfan syndrome affects men and women equally and occurs among all races and ethnic groups. Because it’s a genetic condition, the greatest risk factor for Marfan syndrome is having a parent with the disorder.


The signs and symptoms of Marfan syndrome develop over time. Only about 40% to 60% of patients with Marfan syndrome have symptoms, usually mitral valve prolapse or problems with the aorta.

Other signs of Marfan syndrome may include –

  • A tall and thin body frame, long and slender fingers, and long arms and legs.
  • A curved spine (called scoliosis).
  • Chest-wall deformities, such as a breast bone (sternum) that is caved in (indented) or sticking out (protruding). If the breast bone is indented, it may also be very narrow.
  • Eye or vision problems, such as nearsightedness or a detached retina.
  • Disproportionate growth, meaning people with Marfan syndrome are usually very tall.
  • Flat feet.
  • Loose joints (called joint laxity) or being double jointed.
  • Shortened muscles, tendons, and ligaments (called contracture).
  • About 90 percent of people with Marfan syndrome develop changes in their heart and blood vessels.
  • The heart’s valves, especially the mitral valve, can be affected by Marfan syndrome. The valve leaflets become floppy and do not close tightly, allowing blood to leak backwards across the valve (mitral valve prolapse, also called MVP). When MVP progresses, the valve leaks and the condition is called mitral valve regurgitation.
  • Decreased elasticity of the skin cause stretch marks to occur even without changes in weight.


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


Medications are not used to treat Marfan syndrome, however they may be used to prevent or control complications. Medications may include –

  • A beta-blocker improves the heart’s ability to relax, decreases the forcefulness of the heartbeat and the pressure within the arteries, thereby preventing or slowing the enlargement of the aorta. Beta-blocker therapy should begin at an early age.
  • In people who are unable to take beta-blockers due to asthma or side-effects, a calcium channel blocker, such as verapamil, is recommended.
  • An angiotensin receptor blocker (ARB) is a type of medication that acts on a chemical pathway in the body. These agents are often used in treatment of high blood pressure as well as heart failure.

Surgery – Surgery for Marfan syndrome is aimed at preventing aortic dissection or rupture and treating valve problems. When the aorta diameter is more than 4.7 cm (centimeters) to 5.0 cm (depending on your height), or if the aorta is enlarging at a rapid pace, surgery is recommended. The cardiologist may also calculate the aortic root diameter to height ratio, since this may also influence whether the patient should have surgery.

Bone and Joint Treatments – If people have scoliosis (a curved spine), the doctor may suggest a brace or other device to prevent the condition from getting worse. Severe cases of scoliosis may require surgery.

Some people who have Marfan syndrome need surgery to repair a chest that sinks in or sticks out. This surgery is done to prevent the chest from pressing on the lungs and heart.

Eye Treatments – Marfan syndrome can lead to many eye problems, such as a dislocated lens, nearsightedness, early glaucoma (high pressure in the fluid in the eyes), and cataracts (clouding of an eye’s lens).

Glasses or contact lenses can help with some of these problems. Sometimes surgery is needed.

Nervous System Treatments – Marfan syndrome can lead to dural ectasia. In this condition, a substance called the dura (which covers the fluid around the brain and spinal cord) stretches and grows weak. This can cause the bones of the spine to wear away. Dural ectasia usually is treated with pain medicines.

Lung Treatments – Marfan syndrome may cause pneumothorax, or collapsed lung. In this condition, air or gas builds up in the space between the lungs and the chest wall.

Alternative Treatment

Protein or Amino acids are essential for many important roles in cellular and cardiovascular support i.e. Connective tissue and muscle development and mental/mood support.

Trace Minerals are invaluable for all those with connective tissue needs for repair of the ligaments to strength in the musculature and all connective tissue.

Magnesium is a macro mineral the is in great deficiency across the population that I see.   Epsom salt baths are great for this. Magnesium allows for muscle relaxation and arterial dilation.

Vitamin C and bioflavinoids – Huge for connective tissue integrity by strengthening the all connective tissue and fighting off any free radical damage.

Reference –’s-health-issues/hereditary-connective-tissue-disorders/marfan-syndrome

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