Marfan Syndrome

Hoag’s Marfan Syndrome and Related Conditions Clinic. World Class Connective Tissue Disorder Treatment for Patients in Southern California and Beyond.

Part of the Elaine & Robert Matranga Aortic Center, Hoag’s Marfan Syndrome and Related Conditions Clinic is a fully-integrated, one-of-a-kind program for genetic or inherited connective tissue disorders and connective tissue-related aortic disease.

Led by internationally-recognized cardiovascular specialist David Liang, M.D., Ph.D., who has worked in the field of Marfan syndrome and related conditions for over 25 years, this unique program melds a deep understanding of the genetic factors at work with world-class cardiac and aortic care.

The comprehensive team at Hoag is deeply skilled in ongoing surveillance and aortic surgery, including advanced, valve-sparing aortic root replacement surgery. And they work hand in hand with Dr. Liang to find the best diagnosis and treatment for every patient with genetic conditions that can impact the aorta.

Genetic conditions treated by the Marfan Syndrome and Related Conditions Program at Hoag include:

• Marfan syndrome
• Loeys-Dietz syndrome (LDS)
• Vascular Ehlers-Danlos syndrome (vEDS)
• Other related connective tissue disorders affecting the aorta and vascular system
• Familial thoracic aortic aneurysm and dissection (Familial TAAD)

For more information about Loeys-Dietz syndrome, Vascular Ehlers-Danlos syndrome and other related connective tissue disorders, call 949-764-8468 or contact us online.

For an overview of Thoracic Aortic Aneurysm and Dissection, click here.

What is Marfan Syndrome?

Marfan syndrome is a disease caused by a genetic mutation that causes changes in the proteins used to create the body’s connective tissue. This can cause the connective tissue that supports bones, muscles, organs and other internal structures to become weak.

In those with Marfan syndrome, a genetic mutation changes how much of a protein called fibrillin-1 (FBN1) the body produces. Fibrillin-1 is important in making the tough, elastic fibers that give connective tissue its flexibility and strength. Without enough fibrillin-1, the strength and performance of connective tissues can be greatly reduced all over the body, including ligaments, cartilage and tendons.

Because so many of the body’s tissues and organs rely on connective tissues for support, structure and healthy function, Marfan syndrome can cause problems throughout the body, including serious functional issues with the eyes, heart, blood vessels, heart valves, joints, skin, lungs and more. The most serious of these effects is weakening of the aorta, the largest artery in the body, which results in enlargement and tearing or rupture if not treated.

In some people with Marfan syndrome, the malfunctioning gene can also cause certain bones to grow longer than they should, which can result in skeletal issues like abnormally long legs, arms, fingers and toes, or an elongated skull.

What Causes Marfan Syndrome?

Marfan syndrome is a genetic condition, meaning it is caused by an abnormality in the genetic code that is usually passed down in families. Specifically, Marfan syndrome is caused by a mutation in the FBN1 gene, which is responsible for how much of a protein called fibrillin-1 is produced by the body.

Fibrillin-1 is very important in helping make connective tissues strong and resilient. In those with Marfan syndrome, the body doesn’t make enough Fibrillin-1, which often results in weak connective tissues throughout the body.

Is Marfan Syndrome Always Inherited?

In most cases, at least one parent of a person born with Marfan syndrome also has the condition. However, according to information published by the National Institutes of Health, about 25% of those diagnosed with Marfan syndrome are the first person in their family to have the disorder.

What are the Symptoms of Marfan Syndrome?

Because Marfan syndrome impacts the strength of connective tissue, which is found all over the body, the condition can cause a wide range of symptoms in multiple parts of the body, including impacting heart health, skeletal structure, the lungs, eye function and more.

Some people with Marfan syndrome only experience mild symptoms, while others have serious complications that can severely impact their quality of life. Some symptoms of the condition may alter a person’s physical appearance, or the way they walk, stand or move.

Symptoms of Marfan syndrome may include:

Cardiac Symptoms

• Mitral valve prolapse: One of the four valves of the heart, the mitral valve controls the flow of blood between the left ventricle and the left atrium. In some people with Marfan syndrome, the flaps that open and close to allow blood to flow through the mitral valve are weak, don’t close properly and bulge every time the heart contracts. This can cause blood to leak through the valve. Read more about Mitral Valve Disease from Hoag.
• Aortic Conditions:
  • Aortic enlargement: In those with Marfan syndrome, the walls of the aorta may become so weak that the pressure of blood flow causes the aorta to become stretched, a condition called aortic enlargement or aortic dilation.
  • Aortic aneurysm: The weakening of the aortic walls related to Marfan syndrome can cause a section of the aorta to bulge, a condition called an aortic aneurysm. Over time, an aortic aneurysm can become so large that it rips open, a condition called a rupture, which can result in life-threatening internal bleeding.
  • Aortic dissection: An aortic dissection occurs when there is a tear between the layers of the wall of the aorta, which can cause life-threatening issues, including blood clots that can potentially cause a stroke. Aortic enlargement and aortic aneurysm can increase a person’s chances of experiencing an aortic dissection.
  • Aortic regurgitation: The aortic valve controls blood flow from the heart to the aorta, the body’s large, central blood vessel. If the aortic valve is impacted, it may not close properly. This can allow blood to backflow through the faulty valve and into the heart — a condition called aortic regurgitation. Read more about aortic valve disease from Hoag.
• Heart palpitations, which are irregular heartbeats that may feel like skipping or fluttering. Read more about cardiac arrhythmia from Hoag.

Visit this link to meet Anthony D. Caffarelli, M.D., director of Cardiac Surgery at Hoag, director of the Elaine & Robert Matranga Aortic Center and the Newkirk Family Endowed Chair in Aortic Care.

Symptoms Impacting the Eyes

• Cataracts, which is a clouding of the lenses of the eyes
• Nearsightedness (myopia) or blurry vision
• Shifting of the lenses in the eyes, a condition called ectopia lentis
• Retinal detachment, which is when the retina at the back of the eye is pulled from its normal position

Symptoms Affecting Skeletal Structure

• Legs, arms, fingers and toes that seem abnormally long or out of proportion to the rest of the body
• Unique facial features, including a long, narrow face
• Abnormal curvature of the spine (scoliosis)
• A narrow jaw, crowded teeth and a heavily arched upper palate
• Abnormally flexible joints
• Feet with no arch (“flat feet”)
• A sternum that is abnormally concave or convex

Other Symptoms

• Weak muscle tone
• Recurring headaches
• Stretch marks
• Pain and numbness in the lower back or legs
• Shortness of breath, caused by issues impacting the function of the heart or lungs

What are the Risk Factors for Marfan Syndrome?

Marfan syndrome is a genetic disorder. As such, the only risk factors for Marfan syndrome are having a parent or close relative with the condition. However, in about a quarter of diagnosed cases of Marfan syndrome, there is no known genetic cause at all.

Is There Any Way to Reduce My Risk of Marfan Syndrome?

Because it is a genetic condition, there’s no known way to prevent yourself from experiencing Marfan syndrome.

However, if you have a family history of Marfan syndrome or think you might have it, it is in the best interest of both you and any potential children you might have to get tested for the condition so you can understand your risk of passing it on to a family member.

With early diagnosis, many of the most dangerous symptoms of the condition can be successfully treated or avoided, including the heart valve issues and aortic disease that can sometimes result from Marfan syndrome.

Visit our Marfan Syndrome and Related Conditions Clinic diagnosis and treatment page to learn more about how these conditions are diagnosed and managed.

Is there a Cure for Marfan Syndrome?

Currently, there is no cure for Marfan syndrome. However, with proper care, life expectancy can be restored to near normal and quality of life can be maintained.

Worried You May Have Marfan Syndrome? Southern California and Beyond Trusts Hoag for Genetic Counseling and Care for Connective Tissue Disorders.

At Hoag, we believe patients in need of care for Marfan syndrome and related connective tissue conditions that can impact the aorta, heart, blood vessels and other parts of the body, deserve comprehensive, lifelong care.

That’s why we built Hoag’s genetic counseling program from the ground up with one mission: to provide comprehensive care, genetic testing and a patient-centered environment that is among the best.

And if Marfan syndrome or other related connective tissue conditions are impacting your cardiovascular health, our integrated, world-class cardiovascular programs within the Jeffrey M. Carlton Heart and Vascular Institute, like the Elaine and Robert Matranga Aortic Program and the Marfan Syndrome and Related Conditions Program, provide advanced diagnosis and state-of-the-art care for complex cardiovascular conditions.

Ready to explore the program that’s setting a new standard for inherited connective tissue disorder care across Southern California and beyond. Visit our diagnosis and treatment page to learn more about how Marfan Syndrome is diagnosed and treated.

For more information about Hoag’s Marfan Syndrome and Related Conditions Program, call 949-764-8468 or contact us online.