Treatment FAQ

what is the treatment for marfan syndrome

by Rita Reynolds Published 3 years ago Updated 2 years ago
image

While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. To accomplish this, you'll need to be checked regularly for signs that the damage caused by the disease is progressing. In the past, people who had Marfan syndrome often died young.May 19, 2021

Medication

Mar 24, 2022 · Medicines. Your provider may recommend blood pressure medicines to relieve any strain on or bulging of the aorta. These medicines help your heart beat slower and with less force. The most common are beta blockers or angiotensin receptor blockers (ARBs).

Procedures

Although there is no cure for Marfan syndrome, doctors use treatments 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 to help manage pain and problems with your heart. Other treatments, such as braces.

See more

Mar 24, 2022 · Your healthcare provider may recommend medicines, surgery, or other treatments to manage or prevent complications. Limiting certain activities , or changing how you do them, may help reduce or prevent complications in the heart, eyes, and joints.

What are the chances of getting Marfan syndrome?

In general, you can expect some things you need to think about every day, such as medications and limitations on physical activity. Then, there are routine doctor appointments, which may be yearly or more frequent, as well as other evaluations to make sure that your Marfan features are not worsening. Sometimes, as features progress, your doctor will recommend surgery to …

Do people with Marfan syndrome need medical assistance?

There are a range of treatment options for heart problems. Beta blockers People with Marfan syndrome are often prescribed a type of medicine called beta blockers to help prevent damage to their heart. Beta blockers are used to treat high blood pressure (hypertension). But most people with Marfan syndrome have low blood pressure (hypotension).

How can you prevent Marfan syndrome?

www.niams.nih.gov

What effects can Marfan syndrome have on persons life?

Feb 21, 2022 · Treatment for Marfan syndrome includes surgery, medication, and prophylactic antibiotics to reduce infection risks in certain circumstances. Skeletal deformations like scoliosis can be a symptom of Marfan syndrome.

See more

image

What is the most common form of treatment for Marfan syndrome?

People with Marfan syndrome are often prescribed a type of medicine called beta blockers to help prevent damage to their heart.

What is the life expectancy of a person with Marfan syndrome?

The leading cause of death in Marfan syndrome is heart disease. One in 10 patients may have a high risk of death with this syndrome due to heart problems. Despite the high risk for Marfan related cardiovascular problems, the average life expectancy of those with Marfan syndrome is nearly 70 years.Oct 12, 2020

Can you get rid of Marfan syndrome?

Both the cardiovascular and skeletal systems are affected by this condition. There is no cure for Marfan syndrome, but management of the associated symptoms can prolong and enhance the quality of a patient's life.

What treatments would a cardiologist recommend for Marfan syndrome?

The most common treatments for Marfan syndrome include:Medications to lower your blood pressure.Medications to make your heart beat slower and help avoid stressing the aorta (the large artery that carries oxygen-rich blood to your body)Treatments for complications that may affect your lungs, spine, or eyes.More items...

What are 4 symptoms of Marfan syndrome?

Marfan syndrome features may include:Tall and slender build.Disproportionately long arms, legs and fingers.A breastbone that protrudes outward or dips inward.A high, arched palate and crowded teeth.Heart murmurs.Extreme nearsightedness.An abnormally curved spine.Flat feet.May 19, 2021

What does a person with Marfan syndrome look like?

People with Marfan syndrome are often very tall and thin. Their arms, legs, fingers and toes may seem out of proportion, too long for the rest of their body. Their spine may be curved and their breastbone (sternum) may either stick out or be indented.

Are there prenatal tests for Marfan syndrome?

Prenatal diagnosis of Marfan syndrome: identification of a fibrillin-1 mutation in chorionic villus sample.

How serious is Marfan syndrome?

Some complications of Marfan syndrome can be very serious, like an aneurysm (bulge) of the aorta, the main artery that takes blood away from the heart. Some complications of Marfan syndrome can be very serious, like an aneurysm (bulge) of the aorta, the main artery that takes blood away from the heart.Dec 3, 2019

Why is Marfan syndrome so difficult to diagnose?

Marfan syndrome can be challenging for doctors to diagnose because many connective tissue disorders have similar signs and symptoms. Even among members of the same family, the signs and symptoms of Marfan syndrome vary widely — both in their features and in their severity. Certain combinations of symptoms and family history must be present ...

What is the first test for Marfan syndrome?

Heart tests. If your doctor suspects Marfan syndrome, one of the first tests he or she may recommend is an echocardiogram. This test uses sound waves to capture real-time images of your heart in motion. It checks the condition of your heart valves and the size of your aorta.

What is Marfan test?

Genetic testing is often used to confirm the diagnosis of Marfan syndrome. If a Marfan mutation is found, family members can be tested to see if they are also affected. You may want to talk to a genetic counselor before starting a family, to see what your chances are of passing on Marfan syndrome to your future children.

What is the procedure for aortic root replacement?

In aortic root replacement, your surgeon removes a section of your aorta and your aortic valve, and replaces the section of the aorta with an artificial tube (graft). The aortic valve is replaced with a mechanical or biological valve, shown in the bottom right image.

Why do children with Marfan syndrome struggle in school?

For example, children with Marfan syndrome may struggle in school because of vision problems that can be corrected with glasses or contact lenses. For most young people, cosmetic concerns are at least as important as academic ones. Parents can help by anticipating these concerns and offering solutions, such as:

Why is Marfan syndrome so hard on young people?

But Marfan syndrome can be even harder on young people, especially because the often-inherent self-consciousness of childhood and adolescence may be exacerbated by the disease's effect on appearance, academic performance and motor skills.

How big is the aorta?

Depending on your signs and symptoms, procedures might include: Aortic repair. If your aorta's diameter reaches about 2 inches (50 millimeters) or if it enlarges rapidly, your doctor may recommend an operation to replace a portion of your aorta with a tube made of synthetic material.

Why is it important to know the signs of Marfan syndrome?

Recognizing the signs of Marfan syndrome is important for prevention and treatment of serious and even life-threatening complications. People with Marfan syndrome are often tall and thin, with very long arms, legs, fingers, and toes.

What are the complications of Marfan syndrome?

Not everyone with Marfan syndrome has all of the complications. People with Marfan syndrome must be closely followed by their doctor to watch for the following complications: 1 Heart disease, including aortic aneurysms and problems with heart valves 2 Bone deformities such as scoliosis (a curved spine) or a breastbone that is sunken or sticks out 3 Eye conditions that can lead to blurred vision or loss of sight, such as a retinal detachment (where the retina—the part of the eye that senses light in the back of the eye—peels away from its supporting tissue) or dislocation of the lens (where the lens shifts out of place) 4 Teeth that are crooked or crowded together, which might require dental procedures 5 A collapsed lung, which makes breathing difficult

What is the main artery that takes blood away from the heart?

Some complications of Marfan syndrome can be very serious, like an aneurysm (bulge) of the aorta, the main artery that takes blood away from the heart. Some complications of Marfan syndrome can be very serious, like an aneurysm (bulge) of the aorta, the main artery that takes blood away from the heart.

How rare is Marfan syndrome?

Marfan syndrome is rare, happening in about 1 in 5,000 people . 1 Marfan syndrome is caused by a mutation in a gene called FBN1. The mutation limits the body’s ability to make proteins needed to build connective tissue. 1, One in four people with Marfan syndrome develops the condition for unknown reasons.

How to treat an aortic aneurysm?

An aortic aneurysm may be treated with medicine or medicine plus surgery. Medicine is used to lower blood pressure to help prevent an aneurysm from rupturing and causing a dissection of the aorta. 2. Severe scoliosis and breastbone problems may require surgery. Eye conditions may also require surgery.

What causes blurred vision?

Eye conditions that can lead to blurred vision or loss of sight, such as a retinal detachment (where the retina—the part of the eye that senses light in the back of the eye—peels away from its supporting tissue) or dislocation of the lens (where the lens shifts out of place)

Does Marfan syndrome cause heart problems?

Not everyone with Marfan syndrome has all of the complications. People with Marfan syndrome must be closely followed by their doctor to watch for the following complications: Heart disease, including aortic aneurysms and problems with heart valves.

Can you have surgery for Marfan syndrome?

Sometimes, when symptoms progress, your doctor will recommend surgery. In some cases, you will have time to plan for an operation; in other cases, immediate surgery may be needed. Understanding how Marfan syndrome symptoms are treated will help you in your medical journey.

Can you live a full life with Marfan syndrome?

While Marfan syndrome is a condition that cannot be cured, you can live a long, full life with proper treatment and management. Everyone is different, depending on how severe or mild their features are. In general, you can expect some things you need to think about every day, such as medications and limitations on physical activity.

What is the treatment for Marfan syndrome?

Treatment focuses on managing the symptoms and reducing the risk of complications. As Marfan syndrome affects several different parts of the body, your treatment programme will involve a number of healthcare professionals. These may include: a geneticist – a specialist in genetic disorders. a genetic counsellor – who provides information, emotional ...

What type of surgery is done for Marfan syndrome?

The most common type of heart surgery carried out on people with Marfan syndrome is an operation to replace a section of an enlarged aorta. This operation must be carried out before the aorta becomes too big. You'll have an echocardiogram every year to monitor the diameter of the aorta.

What type of surgery is needed for scoliosis?

The 2 main types of surgery used are decompression surgery, where the disc or bone pressing on a nerve is removed, and spinal fusion surgery.

What is the procedure called when you fuse your spine?

In teenagers and young adults, an operation called spin al fusion may be carried out. This is where the spine is straightened using metal rods that are attached with screws, hooks, and wires. Bone grafts are used to fuse the spine in place. Find out more about scoliosis surgery in children, teenagers and young adults.

What is the treatment for curvature of the spine?

Scoliosis. Treatment for curvature of the spine (scoliosis) will depend on how severely your spine is curved. If your spine is mildly curved, your treatment team will closely monitor it to see whether it gets worse. In some cases, particularly in children who are still growing, a back brace may be recommended.

What age can you get scoliosis surgery?

The type recommended will depend on your age and individual circumstances. In young children (generally those under the age of 10 ), growing rods are inserted, which allow for continued growth while partially correcting the curvature of the spine.

What is a geneticist?

a geneticist – a specialist in genetic disorders. a genetic counsellor – who provides information, emotional support and guidance to people who have been diagnosed with a genetic condition. a cardiologist – a specialist in heart conditions. an ophthalmologist – a specialist in conditions that affect the eyes.

image

Diagnosis

Treatment

Lifestyle and Home Remedies

Coping and Support

Your provider will work with you to develop a care plan that may include one or more of these treatment options.
There is no cure for marfan syndrome. Treatment focuses on treating the complications associated with it. Regular checkups are required to monitor the disease condition.
Medication

Beta blockers: These make the heart pump at a slower rate.

Losartan

Procedures

Aortic valve replacement: Portion of the damaged or enlarged aorta may be replaced with a synthetic one.

Breastbone correction: Protruded or shrunken breastbone can be corrected through surgery.

Eye surgery: Surgery can be useful when the retina detaches or a cataract is causing the problems.

Specialist to consult

Cardiologist
Specializes in the diagnosis and management heart related disorders.
Ophthalmologist
Specializes in the medical and surgical care of the eyes.
Geneticist
Specializes in the study of heredity and the variation of inherited characteristics.
Orthopedist
Specializes in the prevention and correction of injuries or disorders of the skeletal system and associated muscles, joints, and ligaments.

Preparing For Your Appointment

What Is Marfan Syndrome?

  • While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. To accomplish this, you'll need to be checked regularly for signs that the damage caused by the disease is progressing. In the past, people who had Marfan syndrome often died young. With regular monitoring and modern treatment, most...
See more on mayoclinic.org

What Causes Marfan Syndrome?

  • You may need to avoid competitive sports and certain recreational activities if you're at increased risk of aortic dissection or rupture. Increases in blood pressure, common in activities such as weightlifting, place extra strain on the aorta. Less intense activities — such as brisk walking, bowling, doubles tennis or golf — are generally safer.
See more on mayoclinic.org

How Is Marfan Syndrome Diagnosed?

  • Living with a genetic disorder can be extremely difficult for both adults and children. Adults may wonder how the disease will affect their careers, their relationships and their sense of themselves. And they may worry about passing the defective gene to their children. But Marfan syndrome can be even harder on young people, especially because the often-inherent self-consciousness of ch…
See more on mayoclinic.org

How Is Marfan Syndrome Treated?

  • Marfan syndrome can affect many different parts of your body, so you may need to see a variety of medical specialists, such as: 1. A cardiologist, a doctor who specializes in heart and blood vessel disorders 2. An ophthalmologist, a doctor who specializes in eye disorders 3. An orthopedist, a doctor who specializes in structural problems of the skeleton 4. A geneticist, a do…
See more on mayoclinic.org

Additional Resources

  • Marfan syndrome is a genetic condition that affects connective tissue, which provides support for the body and organs. Marfan syndrome can damage the blood vessels, heart, eyes, skin, lungs, and the bones of the hips, spine, feet, and rib cage. Some complications of Marfan syndrome can be treated or prevented, including heart disease, bone deformit...
See more on cdc.gov

References

  • Marfan syndrome is rare, happening in about 1 in 5,000 people.1 Marfan syndrome is caused by a mutation in a gene called FBN1. The mutation limits the body’s ability to make proteins needed to build connective tissue.1, One in four people with Marfan syndrome develops the condition for unknown reasons.1 A person with Marfan syndrome has a 1 in 2 chance of passing it on to their …
See more on cdc.gov

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 1 2 3 4 5 6 7 8 9