Marfan Syndrome


Marfan syndrome is an inherited disorder of the connective tissue that causes abnormalities in the eyes, bone, heart and blood vessels.


There is a great variation in symptoms between one individual with Marfan syndrome and another, even within the same family. Sometimes an individual will show only some features associated with the condition. In this case, they are described as "Marfanoid" or "Marfan-like." Some of the symptoms (by category) that may be present when a person has Marfan syndrome are:

Symptoms affecting the bones:

People with Marfan syndrome tend to have excessively long bones and are commonly thin, with long, "spider-like" fingers. They may also have other skeletal malformations that require the attention of an orthopaedic specialist. Some of the bone-related symptoms of Marfan syndrome include:

  • Being taller than average for his or her age and family
  • Arms that are disproportionately long compared to his or her height
  • Unusually long, thin, spider-like fingers and toes
  • Chests that are either pushed outward or caved inward
  • Joints, including the knees, that can flex backward to an unusual degree
  • Flatfeet
  • A backward and sideways curve in the back (kyphoscoliosis)
  • Hernias
  • Very little fat beneath the skin
  • A high-arched palate

Symptoms affecting the eye:

  • Dislocation of the lens of the eye. The margin of the lens can sometimes be seen through the pupil even without dilation.
  • Extreme nearsightedness (myopia)
  • A tendency toward sudden detachment of the retina

Symptoms affecting the heart and blood vessels:

  • Progressive enlargement of the aorta as it rises above the heart
  • Tears in the aorta that can begin appearing in childhood or as late as the 50s
  • Back flow of blood into the heart because the valve isn't closing properly
  • Bacterial endocarditis may occur
  • Mitral valve prolapse or regurgitation may occur, producing a clicking or murmuring sound when the heart beats
  • Cystic disease of the lungs may occur, along with repeated bouts of air or gas collecting in the space around the lungs inside the chest (recurring spontaneous pneumothorax

Causes and Risk Factors

Much is still unknown about what causes Marfan syndrome. Research is underway at a number of centers.

Once Marfan syndrome has been identified in a family, it is important that all members to evaluated for it. It is particularly important to have regular diagnostic testing of the aorta and heart for early detection of abnormalities, which may become life-threatening.


It can be challenging to diagnose Marfan syndrome because many persons with it have few major features and no specific cellular or biochemical changes. Many partial cases of Marfan's syndrome exist. There are no specific tests that can be done nor can it be diagnosed before birth.

A doctor will base his or her diagnosis on the person's cardiovascular, eye and bone symptoms and on the individual's family history.


Although there currently is no cure for this condition, advancements in medical and surgical treatments have improved both the length and quality of life for those affected by it.

Anyone who may have Marfan or Marfanoid syndrome should be screened with echocardiography every year. Once the aorta, as it rises above the heart, is larger than 3.5 centimeters, screening with echocardiography should be done every six months. When the aorta reaches 4.0 centimeters, the patient should schedule a consultation with a cardiac surgeon specializing in aortic surgery for Marfan syndrome.

Issues such as family history and symptoms must also be weighed in making the decision about surgery. The goal is always to avoid emergency situations, which can either be life-threatening or cause lower survival rates after surgery.

Even before aortic surgery, persons with Marfan syndrome should be treated with blood pressure drugs such as beta blockers and ACE inhibitors. In general, people with Marfan's syndrome should keep their systolic blood pressure (which is a measurement of the blood pressure after the heart has just contracted) range from 105 to 110 during normal activities. This keeps the force of pressure on the aorta lower and reduces the risk of a tear.

Surgery on the aorta today avoids replacing the aortic valve with a mechanical one. When a mechanical valve is used, a person must take drugs (such as coumadin) to prevent the blood from clotting for the rest of his or her life. These anti-clotting drugs (anticoagulants) can be risky for people with Marfan syndrome. If a part of the aorta tears after surgery, people with Marfan syndrome can face a life-threatening situation as their blood doesn't have the ability to clot and stop the bleeding. These individuals may also need more surgery as the disease progresses. Anticoagulants can increase the risk of bleeding complications during and after surgery.

Newer surgical approaches try to preserve the valve or replace it with a biological one. These approaches don't require the life-long use of anticoagulants. Biological valves can last 10 years or more.

The surgical technique used is important in achieving long-term, lasting results. For surgery on the ascending aorta, open anastomosis is now being done, which requires the circulation of blood in the body to be stopped for a shorter period of time. (This process is called hypothermic circulatory arrest. During the process, the body's temperature is lowered to prevent damage to the cells.) That time now is 20 to 125 minutes.

Because their aortic tissue is fragile, Marfan syndrome patients should be followed with an annual diagnostic test using either computed tomography with contrast or MRI with contrast.

Medical treatment is also ongoing. This typically involves either two or three drugs to prevent high systolic blood pressure. Managing blood pressure to prevent a tear or rupture or the aorta as well as to reduce the risk of strokes or heart attacks is important.

Persons with Marfan syndrome who follow a healthy lifestyle, eat a nutritionally sound diet and do moderate exercise will have a better quality of life. This may also lower the risks of future surgery, enhance healing and recovery and make managing a stable blood pressure easier.

© 2000-2022 The StayWell Company, LLC. All rights reserved. This information is not intended as a substitute for professional medical care. Always follow your healthcare professional's instructions.
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