Medication
While most cases of Marfan syndrome are inherited, some are due to a spontaneous change in a gene, with no family history. 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.
Procedures
With regular monitoring and modern treatment, most people with Marfan syndrome can now expect to live a more normal life span. Doctors often prescribe blood pressure lowering drugs to help prevent the aorta from enlarging and to reduce the risk of dissection and rupture.
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How is Marfan syndrome diagnosed?
- Physical exam
- Family history
- Eye exam
- Echocardiogram (using sound waves to look for problems with the aorta and heart valves)
- Genetic testing
Can you have mild Marfan syndrome?
The disease is characterized by unusually long limbs, and is believed to have affected Abraham Lincoln. Marfan syndrome is an autosomal dominant disorder that has been linked to the FBN1 gene on chromosome 15. FBN1 encodes a protein called fibrillin, which is essential for the formation of elastic fibres found in connective tissue.
What is the prognosis of Marfan syndrome (MFS)?
How to diagnose Marfan?
Is Marfan syndrome an autoimmune disease?
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What treatments are available 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.
How much is treatment for Marfan syndrome?
The Marfan Foundation points out there are regular doctor appointments, testing, medications, and the cost of any treatments, such as surgeries or therapy. On average, you can expect to pay out $3,000 to $5,000 per year for your treatment of symptoms and ongoing medical care for Marfan syndrome.
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 some future treatments for Marfan syndrome?
Pharmacological therapy is focused more on prevention than on delay of aortic wall pathology in Marfan syndrome. Of the new pharmacological treatment strategies targeting aortic pathology in Marfan syndrome, angiotensin receptor type 1 blockers are promising candidates, with several clinical trials currently ongoing.
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 serious is Marfan syndrome?
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.
What is the life expectancy of a person with Marfan syndrome?
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. The life expectancy in this syndrome has increased to greater than 25% since 1972.
How can you tell if you have Marfan syndrome?
A blood test can help diagnose Marfan syndrome. This genetic test looks for changes in FBN1, the gene that is responsible for most cases of Marfan syndrome. A genetic counselor should review your genetic testing because FBN1 test results are not always obvious.
Is Marfan syndrome painful?
The clinical manifestations of Marfan syndrome frequently cause pain.
Is Marfan syndrome fatal?
How often is the condition fatal? Marfan's disease used to always be fatal—a person wouldn't normally live past the age of 45. Today, with aggressive treatment, people can live well beyond that. One of the difficulties is that in patients with Marfan's disease you tend to chase the aorta.
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.
Are people working on a cure for 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 is Marfan syndrome?
Marfan syndrome is a rare genetic disorder that affects the body’s connective tissue. It can cause serious, even life-threatening problems in the aorta and heart valves. At the UPMC Center for Thoracic Aortic Disease, our experts provide the latest treatments for the heart-related problems of Marfan syndrome.
What are the risk factors for Marfan syndrome?
Marfan syndrome affects many organs and systems throughout the body, including the: Heart. Blood vessels. Skeleton. Joints. Eyes. Some people have enlarged aortas, which can be life threatening.
What are the physical characteristics of Marfan syndrome?
People with Marfan syndrome tend to have a variety of distinctive physical features, mostly related to the skeleton, like: Long limbs. A tall, thin build. A chest that sinks in or curves out. A curved spine. Crowded teeth.
Can Marfan syndrome be diagnosed?
Marfan syndrome diagnosis. Doctors diagnose many people with Marfan syndrome at a young age. Sometimes it can be hard to diagnose since it impacts such a wide range of organs. If a close relative has the condition, diagnosis may be easier. Genetic testing will help confirm the diagnosis.
Is it hard to diagnose Marfan syndrome?
Doctors diagnose many people with Marfan syndrome at a young age. Sometimes it can be hard to diagnose since it impacts such a wide range of organs. If a close relative has the condition, diagnosis may be easier.
Does Marfan syndrome require surgery?
He or she will check your condition and the health of your impacted organs. Many people with Marfan syndrome eventually need preventive surgery to repair the aorta if it affects the heart. Make an appointment for Marfan syndrome treatment.
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 are the Key Features of Marfan Syndrome?
Marfan syndrome and related conditions affect the body’s connective tissue. Connective tissue holds the body together and plays a role in its growth and development.
What Causes Marfan Syndrome?
Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β.
How is Marfan Syndrome Managed?
People with Marfan syndrome are born with it, but features of the condition are not always present right away. Some people have a lot of Marfan features at birth or as young children – including serious conditions like aortic enlargement.
Pregnancy
Decisions about family planning can be difficult and very emotional when one of the prospective parents has a genetic disorder, such as Marfan syndrome. Before making any decisions, parents should understand the many options now available, as well as the potential risks to the child and the mother.
Know the signs. Fight for victory
Join us in the fight for victory over Marfan syndrome, Loeys-Dietz, VEDS, and other genetic aortic and vascular conditions. Help us create a world in which everyone with these conditions can live their best life.
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