Marfan syndrome is a rare medical condition affecting about one in 5,000 people – or approximately 200,000 in the United States. This genetic condition can have impacts on cardiovascular, skeletal and other systems of the body.
In this Q & A, David Liang, M.D., Ph.D., director of the Hoag Marfan Syndrome & Related Conditions Program, provides an overview of this condition.
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 or causes the body to make defective fibrillin-1. 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 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 or makes defective fibrillin-1, which often results in weak connective tissues throughout the body.
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.
How does Marfan syndrome impact the heart?
Marfan can impact the heart in several ways, Dr. Liang says:
- 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, leading to aortic dilation, often called an In Marfan syndrome, the dilation most often affects the portion of the aorta closest to the heart. Over time, an aortic aneurysm can become so large that it may tear, also called an aortic dissection.
- Aortic dissection: An aortic dissection occurs when there is a tear in the inner most layer of the aorta, allowing blood to flow into and tear apart the layers of the aorta. This is a life-threatening emergency where minutes can make a difference between life and death. The torn aorta is weakened and may rupture abruptly or the tear as it propagates can cutoff vital branches resulting in stroke or organ failure. Aortic enlargement generally is the precursor of a dissection so with careful surveillance the risk of dissection can be reduced significantly.
- Aortic regurgitation:The aortic valve opens to allow blood to go from the heart into the aorta and out to the body. It also closes so that blood does not leak backward into the heart as the heart relaxes. Enlargement of the aorta may result in the leaflets of the valve being pulled apart, creating leakage. 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.
- 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.
- Heart palpitations, which are irregular heartbeats that may feel like skipping or fluttering. Read more about cardiac arrhythmia from Hoag.
How can Marfan impact the eyes?
Dr. Liang says Marfan syndrome can affect the eyes in multiple ways:
- 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
How can Marfan syndrome affect the skeletal system?
Marfan syndrome can impact the skeletal system in a few ways, says Dr. Liang:
- 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
What are other symptoms of Marfan syndrome?
- 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.
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.
“I believe in caring for patients as if they are my family members,” said Dr. Liang. “That’s the difference between just developing medical skills and developing an attitude about caring for patients.”
What is the life expectancy for someone with Marfan syndrome?
Marfan syndrome once cut a person’s life expectancy down to 45 years old – with most early deaths attributed to cardiovascular issues.
“Today, with the right care, people born with Marfan syndrome go on to live healthy lives into their 70’s and 80’s,”said Dr. Liang, one of the few cardiac specialists in the world who focuses care on individuals and their families with Marfan syndrome and related connective tissue conditions.
How can an open aneurysm repair help someone with Marfan syndrome?
People with Marfan syndrome are at increased risk of aortic dissection or aortic rupture. Surgery to repair an aortic aneurysm, or bulge, can prevent the aorta from rupturing.
“Hoag has one of the most renowned aortic programs in the nation, with expertise in these kinds of repairs,” Dr. Liang said.
How can a valve-sparing aortic root replacement help someone with Marfan Syndrome?
In this procedure, an aneurysm of the aortic root, the portion of the aorta that is closest to the top of the heart, is addressed by surgically removing the damaged portion, along with the person’s natural aortic valve. The aortic root is then replaced with a graft, which is a tube made of a synthetic material and the patient’s natural aortic valve is sewn into the graft. Preserving a patient’s natural heart valve usually leads to much better outcomes compared to replacement with a synthetic valve. “With early diagnosis, many of the most dangerous cardiovascular symptoms of the condition can be successfully treated or avoided,” Dr. Liang said.
Learn more about Hoag’s Marfan Syndrome Clinic.
