An Authoritative Look at Marfan Syndrome

"Marfan syndrome is a genetic condition that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly."


Marfan syndrome was named after the French physician Antoine Marfan, who first described the disorder in 1896. Dr. Marfan encountered a young girl who exhibited several distinct physical characteristics and abnormalities. He noted her unusually long limbs, slender fingers, and loose joints, along with other manifestations such as a sunken chest and abnormal curvature of the spine.

Intrigued by this collection of symptoms, Dr. Marfan continued to study and document similar cases, ultimately publishing his findings in medical literature. His observations and subsequent research helped establish Marfan syndrome as a distinct medical condition.

Since then, further advancements have been made in understanding the genetic basis of Marfan syndrome. In the 1990s, scientists discovered that mutations in the FBN1 gene, which codes for the fibrillin-1 protein, are responsible for the majority of cases. Fibrillin-1 is a vital component of connective tissue, and alterations in this gene can disrupt the structural integrity of various body systems, leading to the characteristic features and complications seen in Marfan syndrome.

Through ongoing research and medical advancements, our understanding of Marfan syndrome has improved, allowing for better diagnosis, management, and treatment of individuals with the condition.

Marfan syndrome is a genetic disorder that affects the body's connective tissue. Connective tissue is a type of tissue that helps to hold the body together. It is found in the bones, muscles, blood vessels, and other organs.


Marfan syndrome is caused by a mutation in the FBN1 gene. This gene is responsible for making a protein called fibrillin-1. Fibrillin-1 is a major component of connective tissue. When the FBN1 gene is mutated, it makes less fibrillin-1, or the fibrillin-1 that is made is not as strong. This can lead to problems with the development and function of connective tissue.

The symptoms of Marfan syndrome can vary from person to person. Some common symptoms include:

1. Tall and thin body build

2. Long, thin arms and legs

3. Elongated fingers and toes

4. Pectus carinatum (protruding chest) or pectus excavatum (sunken chest)

5. Scoliosis (curvature of the spine)

6. Loose joints

7. Myopia (nearsightedness)

8. Aortic aneurysm (enlargement of the aorta)

9. Mitral valve prolapse (a condition in which the mitral valve in the heart does not close properly)

10. Dislocation of the lens in the eye

Marfan syndrome is a serious condition that can lead to a number of health problems. The most serious complications of Marfan syndrome are related to the heart and blood vessels. An aortic aneurysm is a bulge in the aorta, the main artery that carries blood away from the heart. If the aortic aneurysm ruptures, it can be fatal. Mitral valve prolapse is a condition in which the mitral valve in the heart does not close properly. This can cause blood to leak back into the heart, which can lead to heart failure.


There is no cure for Marfan syndrome, but there are treatments that can help to manage the symptoms and prevent complications. Treatment for Marfan syndrome typically includes:

1. Regular checkups with a doctor to monitor for signs of complications

2. Medications to control high blood pressure and other risk factors for heart disease

3. Surgery to repair or replace an aortic aneurysm

4. Surgery to repair or replace a mitral valve

5. With early diagnosis and treatment, people with Marfan syndrome can live long and healthy lives.


Learn More about Marfan Syndrome from ‘THE MARFAN FOUNDATION’


Here is an example short list of doctors who work with Marfan Syndrome.  You can find more by searching through the internet, asking your own doctor or making inquiry at places like The Marfan Foundation :

  1. Dr. Naser Ammash is a cardiologist and geneticist at the Mayo Clinic in Rochester, Minnesota. He is a leading expert in the diagnosis and treatment of Marfan syndrome and other genetic disorders of the heart and blood vessels.
    Dr. Naser Ammash, Marfan Disease doctorOpens in a new windowMayo Clinic
  2. Dr. Heidi Connolly is a cardiologist and geneticist at the University of California, San Francisco. She is also a member of the Marfan Foundation Medical Advisory Council.
    Dr. Heidi Connolly, Marfan Disease doctorOpens in a new windowThe Marfan Foundation
  3. Dr. Hartzell Schaff is a cardiovascular surgeon at the Mayo Clinic in Rochester, Minnesota. He is a pioneer in the development of minimally invasive surgery for Marfan syndrome and other congenital heart defects.
    Dr. Hartzell Schaff, Marfan Disease doctorOpens in a new windowUS News Health
  4. Dr. Linnea Baudhuin is a clinical geneticist at the Mayo Clinic in Rochester, Minnesota. She specializes in the diagnosis and management of genetic disorders, including Marfan syndrome.
  5. Dr. Robert L. Weiss is a pediatric cardiologist at Boston Children's Hospital. He is a leading expert in the diagnosis and treatment of congenital heart defects, including Marfan syndrome.
    Dr. Robert L. Weiss, Marfan Disease doctorOpens in a new windowUS News Health
  6. Dr. John J. Nora is a cardiologist and geneticist at the University of Michigan. He is a founder of the Marfan Foundation and a leading expert in the diagnosis and treatment of Marfan syndrome.
    Dr. John J. Nora, Marfan Disease doctorOpens in a new windowUS News Health
  7. Dr. Paul Sponseller is an orthopedic surgeon at the Hospital for Special Surgery in New York City. He is a leading expert in the treatment of musculoskeletal disorders in children and adults with Marfan syndrome.
    Dr. Paul Sponseller, Marfan Disease doctorOpens in a new windowUS News Health
  8. Dr. Robert E. Emery is a pediatric cardiologist at the University of Pennsylvania. He is a leading expert in the diagnosis and treatment of congenital heart defects, including Marfan syndrome.
    Dr. Robert E. Emery, Marfan Disease doctorOpens in a new windowWikipedia
  9. Dr. James B. Applegate is a cardiologist at the Cleveland Clinic. He is a leading expert in the diagnosis and treatment of Marfan syndrome and other genetic disorders of the heart and blood vessels.
    Dr. James B. Applegate, Marfan Disease doctorOpens in a new windowUS News Health
  10. Dr. Steven E. Nissen is a cardiologist at the Cleveland Clinic. He is a leading expert in the diagnosis and treatment of cardiovascular disease, including Marfan syndrome.
    Dr. Steven E. Nissen, Marfan Disease doctorOpens in a new windowEveryday Health-CARE

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