Medication
“For years, standard medical therapy for Marfan syndrome consisted of giving patients beta blockers, which lower heart rate and blood pressure, reducing stress on the wall of the aorta,” said study co-author Alan C. Braverman, MD, a cardiologist at Washington University School of Medicine in St. Louis.
Procedures
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
- Surgery to repair or replace part of your aorta
- Long-term monitoring of your heart health
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- Regular monitoring of heart
- Anti-coagulant remedies
- Intravenous anti-biotic therapy
- Estrogen and progesterone therapy
- Surgery
- Eyeglasses and contact lenses to correct myopia
What is the optimal medical therapy for Marfan syndrome?
Marfan syndrome most commonly affects the connective tissue of the heart and blood vessels, eyes, bones, lungs, and spinal cord. However, the condition can affect many parts of the body. The most serious complications are in the heart and aorta and may include: Aortic aneurysm. Marfan syndrome can cause the aorta to weaken and widen.
How can Marfan syndrome be treated?
What are the chances of getting Marfan syndrome?
What does Marfan syndrome do to the body?
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What are 3 treatments for Marfan syndrome?
While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease....Depending on your signs and symptoms, procedures might include:Aortic repair. ... Scoliosis treatment. ... Breastbone corrections. ... Eye surgeries.
What are some treatment options for Marfan syndrome?
Treatment options include medication therapy or surgical intervention:Medical management of Marfan syndrome, such as beta blockers or angiotensin receptor blockers (ARBs)Surgical interventions: Aortic root replacement. Valve sparing root replacement. Complex aortic surgery for dissections and aneurysms.
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.
What happens if you don't treat Marfan syndrome?
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 deformities such as a curved spine, eye conditions, crooked teeth, and collapsed lungs.
Can marfans be cured?
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.
Can you live a normal life with Marfan syndrome?
With access to modern medical management, most people with Marfan syndrome have a normal life expectancy. However;some people have died of the complications of Marfan syndrome. There is no cure for Marfan syndrome.
How is Marfan diagnosed?
A blood test can be used to help diagnose Marfan syndrome. This blood test is highly specialized and looks for changes in FBN1, the gene that is responsible for most cases of Marfan syndrome. Genetic counseling should accompany genetic testing because FBN1 testing is not always straightforward.
What is the quality of life for someone with Marfan syndrome?
To the Editor: Few studies have evaluated quality of life (QOL) in patients with Marfan syndrome (MFS). Most patients with MFS are dissatisfied with their self-image, report low self-esteem, and express difficulty coping with the ramifications of their condition. Peters K.F.
How long does someone with Marfan syndrome live?
Despite the high risk for Marfan related cardiovascular problems, the average life expectancy of those with Marfan syndrome is nearly 70 years.
Does Marfan syndrome get worse with age?
Marfan syndrome can be mild to severe, and may become worse with age, depending on which area is affected and to what degree. In Marfan syndrome, the heart is often affected. The aorta, the major artery of the body, may be more dilated (widened) than average.
What age is Marfan syndrome usually diagnosed?
We found a median age at diagnose of 19.0 years (range: 0.0-74). The age at diagnosis increased during the study period, uninfluenced by the changes in diagnostic criteria.
Does Marfan syndrome make you tired?
Marfan patients have a high level of fatigue and orthostatic complaints when compared to the general population. Fatigue and orthostatic tolerance are significantly correlated.
How does Marfan syndrome work?
Some people may not require any treatment, just regular follow-up appointments with their doctor . Others may need medications or surgery . The approach depends on the structures affected and the severity of the condition.
What is Marfan syndrome?
Marfan syndrome is caused by a defect in the gene that encodes the structure of fibrillin and the elastic fibers, a major component of connective tissu e. This gene is called fibrillin-1 or FBN1. In most cases, Marfan syndrome is inherited.
What happens to the blood vessels in Marfan syndrome?
Blood vessel changes: With Marfan syndrome, the walls of the blood vessels become weak and dilate (stretch). These blood vessel changes often affect the aorta, the major artery that carries blood from the heart to the rest of the body.
Why do people with Marfan syndrome have a narrow face?
Often, people with Marfan syndrome have a long, narrow face and the roof of the mouth may be higher than normal, causing the teeth to be crowded. Marfan syndrome causes many changes to occur within the body structures, including dental and skeletal (bone) problems.
What test is used to diagnose Marfan syndrome?
A blood test can be used to help diagnose Marfan syndrome. This blood test is highly specialized and looks for changes in FBN1, the gene that is responsible for most cases of Marfan syndrome. Genetic counseling should accompany genetic testing because FBN1 testing is not always straightforward.
Does Marfan syndrome progress with age?
Sometimes Marfan syndrome is so mild, few if any, symptoms occur. In most cases, the disease progresses with age and symptoms of Marfan syndrome become noticeable as changes in connective tissue occur.
Is Marfan syndrome a genetic disorder?
Marfan syndrome is also referred to as a “variable expression” genetic disorder, because not everyone with Marfan syndrome has the same symptoms to the same degree. Marfan syndrome is present at birth. However, it may not be diagnosed until adolescence or young adulthood.
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 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.
Does Marfan syndrome cause aortic tear?
They raise your blood pressure and heart rate, which may increase the risk of an aortic tear. These activities also place a strain on your joints. As people with Marfan syndrome often have weak joints, their risk of sustaining a joint injury during these activities may be increased.
Can Marfan syndrome cause heart problems?
Heart problems. Marfan syndrome can cause serious heart problems, which can be fatal. This means it's important that your heart is treated as a priority. You'll need to have regular check-ups with a cardiologist, who'll be able to monitor your heart.
Is Marfan syndrome difficult to deal with?
Being diagnosed with Marfan syndrome can sometimes be difficult to deal with emotionally. If your child has been diagnosed with the syndrome, you may be worried or upset about how it'll affect them. Speak to your GP if you or your child are finding the diagnosis difficult to cope with.
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
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.
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.
What is Marfan syndrome?
Overview. Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton. People with Marfan syndrome are usually tall and thin with unusually long arms, legs, ...
What are the complications of Marfan syndrome?
The most dangerous complications of Marfan syndrome involve the heart and blood vessels. Faulty connective tissue can weaken the aorta — the large artery that arises from the heart and supplies blood to the body.
What is the greatest risk factor for Marfan syndrome?
Risk factors. Marfan syndrome affects men and women equally and occurs among all races and ethnic groups. Because it's a genetic condition, the greatest risk factor for Marfan syndrome is having a parent with the disorder.
What is the effect of Marfan syndrome on the aorta?
Marfan syndrome can weaken the walls of the aorta, the main artery that leaves the heart. During pregnancy, the heart pumps more blood than usual. This can put extra stress on the aorta, which increases the risk of a deadly dissection or rupture.
How do people with Marfan syndrome get their genes?
Most people with Marfan syndrome inherit the abnormal gene from a parent who has the disorder. Each child of an affected parent has a 50-50 chance of inheriting the defective gene. In about 25% of the people who have Marfan syndrome, the abnormal gene comes from neither parent.
Can Marfan cause breastbone to protrude?
Chest abnormalities. Marfan syndrome can interfere with the normal development of the ribs, which can cause the breastbone to either protrude or appear sunken into the chest. Because Marfan syndrome can affect almost any part of your body, it may cause a wide variety of complications.
Is Marfan syndrome a life threatening condition?
People with Marfan syndrome are usually tall and thin with unusually long arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or severe. If your aorta — the large blood vessel that carries blood from your heart to the rest of your body — is affected, the condition can become life-threatening.
Diagnosis
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