Overview of Marfan Syndrome
Marfan syndrome is a genetic disorder that changes the proteins that help make healthy connective tissue. This leads to problems with the development of connective tissue, which supports the bones, muscles, organs, and tissues in your body. Mutations (changes) to a specific gene cause Marfan syndrome, and most people inherit the disorder from their parents.
Symptoms of Marfan syndrome can be mild to severe and vary because the condition can affect different areas of the body, including the:
- Skeleton, which includes bone and connective tissues such as ligaments, tendons, and cartilage.
- Heart and blood vessels, including veins, arteries, and valves inside the heart.
Treatment varies depending on the area of the body affected and may include medications, other treatments, and surgery to manage the condition and its complications. Research and advances in treatments and surgeries allow people with Marfan syndrome to live long, productive lives.
What happens in Marfan syndrome?
Everyone has a fibrillin-1 protein, which makes elastic fibers in connective tissue. Fibrillin-1 also affects another protein in your body, transforming growth factor-beta (TGF-beta), which helps control how the body grows and develops. People with Marfan syndrome inherit a gene mutation that changes how the body uses fibrillin-1, leading to excess growth factors, which causes:
- Tissues in blood vessels, the heart, ligaments, tendons, and cartilage to stretch more, making them weak.
- Overgrowth of bones, making them longer than usual.
Who Gets Marfan Syndrome?
Men, women, and children can have Marfan syndrome. It is found in people of all races and ethnic backgrounds.
Symptoms of Marfan Syndrome
The symptoms of Marfan syndrome vary from person to person because connective tissue is found throughout the body. Some people have mild or just a few symptoms, while others can have more serious problems. Symptoms may include:
- Abdominal pain.
- Arms, legs, fingers, and toes that are much longer in relation to the rest of the body.
- Chest that caves in or sticks out.
- Curvature of the spine.
- Flat feet.
- Heartbeat that feels like it is skipping a beat, fluttering, or beating too hard or too fast.
- Highly arched mouth that can lead to crowding of teeth.
- Loose joints.
- Long, narrow face.
- Low back pain and numbness in the legs.
- Shortness of breath due to changes in the lungs or heart.
- Stretch marks on the skin.
- Vision changes, such as blurry vision and extreme nearsightedness.
Because Marfan syndrome affects different areas of the body, other problems and complications can develop, including:
- Aneurysm of the aorta, which happens when the wall of the aorta weakens and bulges. It is a life-threatening emergency if the wall of the aorta ruptures.
- Cataracts, which are cloudy areas in the lens of the eye.
- Dural ectasia, which happens when the tissue that wraps and protects the spinal cord and brain stretches and weakens.
- Ectopia lentis, which happens when the lens of the eyes shifts, leading to changes in vision.
- Glaucoma, a group of eye diseases that can cause vision loss and blindness by damaging a nerve in the back of your eye.
- Heart valve leaking, which happens when one of the valves inside the heart is not working properly. If the leak is significant, it can make your heart work harder and affect its ability to pump blood.
- Hernia in the abdomen, which happens when tissue pushes through the weakened wall of the abdomen.
- Pneumothorax, which happens when a section of the lung collapses because the alveoli (tiny air sacs in the lungs) burst.
- Retinal detachment, which happens when the retina is pulled away from its normal position at the back of the eye.
- Sleep apnea, which happens when the upper airway becomes blocked during sleep, leading to breathing that starts or stops.
- Weakened or stretched aorta, which is the large artery that carries blood from the heart to the rest of the body. Damage to the aorta increases the risk for serious heart problems or even sudden death.
Causes of Marfan Syndrome
A mutation or change in the fibrillin-1 (FBN1) gene causes Marfan syndrome. People with Marfan syndrome inherit one normal copy of the FBN1 gene and one abnormal copy of FBN1 from their parents. The abnormal copy of the gene is stronger or “dominant” over the normal copy of the gene and causes Marfan syndrome. This is dominant mode of inheritance. A person with a dominant mutation has a 50% chance (1 in 2) of passing on the disorder to each of his or her children.
Some children are born with the syndrome, even though there is no family history of the disorder, because of a new mutation in the FBN1 gene.
Diagnosis of Marfan Syndrome
No single test can diagnose Marfan syndrome. Instead, to diagnose the disorder, your doctor may:
- Ask about your family and medical history, specifically about any family members with the disorder or who had an early, unexplained, heart-related death.
- Perform a physical examination, which can include:
- Measuring how long your arms and legs are in proportion to your trunk.
- Examining your eyes.
- Listening to your heart and lungs.
- Order diagnostic testing to evaluate heart, lungs, and eyes that may include:
- CT scan or MRI of the chest to check your heart, lungs, and surrounding tissues.
- Echocardiography to evaluate the heart structure, valves inside the heart, and the blood vessels around the heart.
- Order testing to rule out other conditions that may be causing your symptoms.
In most cases genetic testing is helpful in detecting the mutated gene that causes Marfan syndrome.
Treatment of Marfan Syndrome
There is no cure for Marfan syndrome; instead, doctors focus treatment to relieve symptoms and prevent additional problems or complications. Treatment depends on the area of the body affected by the syndrome and may include medications, other treatments, and surgery.
Doctors may prescribe the following medications:
- Betablocker or angiotensin receptor blockers to help manage problems with your heart. These medications can help your heart beat with less force and more slowly.
- Anti-inflammatory and pain medications.
Other treatments may include:
- Braces to help keep curves in the spine from getting worse.
- Glasses or contacts to help correct vision problems.
- Lifestyle changes that include:
- Lowering emotional stress, when possible, that may raise your blood pressure or heart rate.
- Avoiding high-exertion or contact sports and physical activities. Encouraging mild to moderate physical activities, such as swimming, walking, and bicycling, which allow you to set your own pace. Talk to your doctor before beginning any exercise program.
- Physical or occupational therapy to help you strengthen muscles and manage orthopaedic problems and complications.
Some people with Marfan syndrome may need surgery to correct the problems or complications that can happen. Surgeries may include:
- Orthopaedic surgery to correct more serious problems with the skeleton and sternum.
- Eye surgery to treat some complications, including a retinal detachment and cataracts.
- Cardiovascular surgery to correct problems with the heart, blood vessels, or lungs.
Who Treats Marfan Syndrome?
Health care providers who may treat Marfan syndrome include:
- Cardiologists, who treat issues with the heart.
- Cardiothoracic surgeons, who specialize in surgery of the heart, lungs, and other organs and tissues in the chest.
- Clinical geneticists, who diagnose and treat children and adults with genetic disorders.
- Dental providers, such as orthodontists and oral-maxillofacial surgeons.
- Dermatologists, who specialize in conditions of the skin, hair, and nails.
- Mental health professionals, who provide counseling and treat mental health disorders, such as depression and anxiety.
- Nurse educators, who help you understand your condition and help start treatment plans.
- Occupational therapists, who teach how to safely perform activities of daily living.
- Ophthalmologists, who treat eye disorders.
- Orthopaedists, who treat bone problems.
- Pediatricians, who diagnose and treat children.
- Physical therapists, who teach ways to build muscle strength.
- Primary care doctors, such as family physicians or internal medicine specialists, who coordinate care between the different health providers and treat other problems as they arise.
- Pulmonologists, who treat lung problems.
Living With Marfan Syndrome
Treating and living with Marfan syndrome, and its complications, is a lifelong process. However, advances in treatment make it possible for people with the disorder to have long, productive lives. The following tips can help you manage the disorder:
- Ask your doctors how often you should schedule follow-up visits. Regular visits are important in managing Marfan syndrome and preventing complications. The visits may include regular eye exams, image tests to check for heart and lung problems, and an evaluation of your skeleton and growth.
- Reach out for support. Talk to your family and friends about the disorder and your feelings. Consider joining a community or online support group.
- Seek counseling or talk to a health care professional if you feel depressed or anxious about Marfan syndrome and its effects on your body.
- Eat a healthy well-balanced diet rich in fruits, vegetables, and whole grains.
- Consider wearing medical identification to notify providers about your condition during an emergency.
- If you smoke, quit. Smoking can have a negative impact on both your bone and lung health.
Women with Marfan syndrome can have healthy pregnancies. However, the pregnancy is high risk because it can add stress on the heart. If you are thinking about getting pregnant, talk to your doctor. Planning helps doctors treat problems prior to the pregnancy to keep both the mother and baby healthy.
Research Progress Related to Marfan Syndrome
NIAMS supports translational and clinical research at universities and other organizations throughout the country that are studying Marfan syndrome to better understand the cause and treatments, in hopes to prevent and cure the disorder.
Research topics include:
- Genetics of inheritable connective tissue disorders to better understand the gene mutations.
- Treatments for heart and eye complications related to Marfan syndrome.
- Medication trials to help treat and prevent heart-related complications.
- Tools to monitor the health of children to help prevent complications and manage the disorder.
- Long-term management and healthy lifestyle interventions and their impact on quality of life and health.
- Surgical treatments and tools to manage aortic aneurysms.