Leukemia Overview: Symptoms, Signs, Treatment and Causes
Marfan Syndrome
Marfan syndrome is an inherited, or genetic, disease that affects your body's connective tissue, which gives strength, support, and elasticity to tendons, cartilage, heart valves, blood vessels, and other vital parts of your body.
In people who have Marfan syndrome, connective tissue lacks strength because of its unusual chemical makeup. The syndrome affects your:
Marfan syndrome is a genetic condition that affects your connective tissue to cause many symptoms throughout your body. (Photo Credit: iStock/Getty Images)
Marfan syndrome is a "variable expression" genetic disorder. This means the symptoms can be different from one person to another. They can also vary in how severe they are, and they can range from mild to life-threatening. Symptoms tend to get worse as you get older.
Marfan syndrome appearance
People with Marfan syndrome may have:
Marfan syndrome and heart murmur
Some people with Marfan syndrome may have a heart murmur. Your doctor will be able to hear it with a stethoscope placed over your heart. The murmur is there because of a leaky valve or blood that's coming up the wrong way in your heart when it beats. This symptom in Marfan syndrome is related to flaps in your heart that don't close tightly. About 6 in 10 people with Marfan syndrome may have this heart abnormality.
Marfan syndrome and scoliosis
Scoliosis is a curving of your spine to one side so that it makes an S or spiral shape. If you have Marfan syndrome, your chances of scoliosis are 6 in 10. Many people with scoliosis related to Marfan syndrome don't need treatment for it.
Marfan syndrome progression
For most people, Marfan syndrome will get worse as you get older. For some people, this can happen early in life such that it will quickly affect many parts of the body. For others, the progression may happen more slowly.
Marfan syndrome is caused by a change in the gene that controls how your body makes fibrillin, an essential part of connective tissue that helps make it strong and elastic.
In most cases, Marfan syndrome is inherited from a parent. It happens equally in men and women, who have a 50% risk of passing the gene to their children. In about 25% of people with the syndrome, the gene changes with no clear cause.
The condition is fairly common, affecting one in 5,000 Americans of all races and ethnic backgrounds.
Marfan syndrome affects many parts of the body and can lead to complications, such as:
Aorta damage
This is one of the biggest threats of Marfan syndrome. Your aorta is the artery that carries blood from your heart to the rest of your body. Marfan syndrome can break open the inner layers of the aorta, causing dissection or bleeding in the wall of the vessel. Aortic dissection can be deadly. You may need surgery to replace the affected part of the aorta.
Mitral valve prolapse
Some people with Marfan syndrome also have a condition called mitral valve prolapse that causes a billowing of the heart valve, which may be linked with uneven or rapid heartbeats and shortness of breath. A heart murmur can be another symptom. If you have mitral valve prolapse, it may need surgery.
Eye problems
Marfan syndrome can lead to different eye problems including:
Lens dislocation. The lens in your eye, the part that focuses your vision, may move out of place, a condition called ectopia lentis.
Problems with your retina. You're at a higher risk of a tear or detachment of your retina, the tissue in your eye that senses light.
Glaucoma or cataracts. Marfan syndrome increases your chances of getting cataracts (cloudy vision) or glaucoma (high eye pressure) at an early age.
Skeletal abnormalities
You're more likely to have a curved spine, unusual ribs, foot pain, and back pain. Skeletal signs include:
Marfan syndrome and pregnancy
Because pregnancy increases the amount of blood in your body, an aorta weakened by Marfan syndrome is at higher risk of a rupture or dissection during pregnancy. If you have Marfan syndrome and want to get pregnant, talk to your doctor about:
You'll also want to check on your overall health and talk to a high-risk obstetrician about any issues you could have. A genetic counselor can help you understand how your Marfan syndrome may affect your child. When one parent has Marfan syndrome, a baby's chances of having the same condition is 50%.
Marfan syndrome is present at birth but may not be diagnosed until adolescence or later. Everyone with Marfan syndrome has the same gene change, but not everyone has the same symptoms to the same degree.
To determine whether you have it, your doctor will:
To check for changes in your heart and blood vessels and detect rhythm problems, your doctor may use other tests, such as:
If they can't see sections of the aorta on an echocardiogram or if they suspect that you might have a dissection, you may need a:
The scans can also check your lower back for signs of dural ectasia, a back problem that is common in people with Marfan syndrome.
Other diagnostic tests for Marfan syndrome include a slit lamp eye exam, in which the doctor will check for dislocated lenses.
Genetic testing alone can't tell if you have Marfan syndrome. But doctors often use it to confirm your diagnosis.
Other genetic disorders that affect connective tissue include Ehlers-Danlos syndrome, Loeys-Dietz syndrome, MASS phenotype, familial aortic aneurysm, and Stickler syndrome.
Marfan syndrome doctors
To get the best treatment, you may need to see more than one doctor. Marfan syndrome affects multiple systems in your body, so your treatment could involve one or more specialists, including:
Marfan syndrome treatment
You'll need a treatment plan designed for your specific needs. Some people need regular follow-up appointments with their doctor and, during the growth years, routine cardiovascular, eye, and orthopedic exams.
Your treatment will depend on what's affected. For example:
Heart issues may require medication or surgery.
Marfan syndrome m edications
Doctors don't typically use medications to treat Marfan syndrome. But your doctor may prescribe a beta-blocker, which lowers the forcefulness of your heartbeat and the pressure in the arteries, preventing or slowing the enlargement of the aorta. Beta-blocker therapy is usually started when the patient is young.
Some people can't take beta-blockers because they have asthma or because of side effects, which may include drowsiness, weakness, headaches, a slowed heartbeat, swelling of the hands and feet, or trouble breathing and sleeping. In these cases, you may take a medication called a calcium channel blocker.
Surgery for Marfan syndrome
Surgery for Marfan syndrome is aimed at preventing aortic dissection or rupture and treating problems affecting your heart's valves, which control the flow of blood in and out of your heart and between its chambers.
The decision to perform surgery is based on the size of the aorta, expected normal size of the aorta, rate of aortic growth, age, height, gender, and family history of aortic dissection. Surgery involves replacing the dilated portion of the aorta with a graft, a piece of man-made material used in place of the damaged or weak area of the blood vessel.
A leaky aortic or mitral valve (the valve that controls the flow of blood between the two left chambers of the heart) can damage the left ventricle (the lower chamber of the heart that is the main pumping chamber) or cause heart failure. In these cases, you need surgery to replace or repair the affected valve. If it's done early, before the valves are damaged, the aortic or mitral valve may be repaired. If the valves are damaged, they may need to be replaced.
Talk with a surgeon who has experience with surgery for Marfan syndrome. People who have surgery for Marfan syndrome still need life-long follow-up care to prevent complications.
A better understanding of Marfan syndrome, combined with earlier detection, regular follow-up care, and safer surgical techniques, has resulted in a better outlook for people with this syndrome now than in the past.
In the past, the average age of death for people with Marfan syndrome was 32. But with the help of early diagnosis, appropriate management, and long-term follow-up care by an experienced team of health care providers, most people with the disorder now live active, healthy lives with a life expectancy similar to that of the general population.
Marfan syndrome is a lifelong condition. While you can live a long and happy life, it will affect you in many ways. These include:
Marfan syndrome is a disease you're born with that changes proteins you need to make connective tissue. You may have symptoms in many parts of your body. Your treatment will depend on how you're affected and may include medicines, other treatments, and surgery.
Can Marfan syndrome be cured?
There's no way to cure Marfan syndrome since it's a disease that you inherit. But doctors can do a lot to treat your symptoms and prevent you from having more complications.
What are five facial features of Marfan syndrome?
If you have Marfan syndrome, your face may be long and narrow. You may have deep-set eyes, a small jaw, and flat cheek bones. Your eyes may slant downward. The roof of your mouth may be highly arched, which doesn't leave enough space for your teeth.
How long do people with Marfan syndrome live?
In the past, people with Marfan syndrome often died by the time they were in their 30s. Now many people with Marfan syndrome live into old age.
Imposter Syndrome
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Overcoming Imposter Syndrome
Overcoming imposter syndrome involves changing a person's mindset about their own abilities. Imposters feel like they don't belong, so acknowledging their expertise and accomplishments is key, as is reminding themselves that they earned their place in their academic or professional environment.
People should stay focused on measuring their own achievements, instead of comparing themselves to others. Similar to perfectionists, people with impostorism often put a lot of pressure on themselves to complete every task flawlessly; they fear that any mistake will reveal to others that they aren't good or smart enough for the job.
They perpetuate this excessive pressure because they believe that without the discipline they won't succeed and, instead of rewarding themselves, they only worry about the next task ahead. This cycle can be hard to break, but part of doing so involves reminders that no one is perfect and that a person can only do their personal best.
Why is it important to fight imposter syndrome?
Imposter syndrome can stifle the potential for growth and meaning, by preventing people from pursuing new opportunities for growth at work, in relationships, or around their hobbies. Confronting imposter syndrome can help people continue to grow and thrive.
How do you overcome imposter syndrome?
Reflecting on your concrete achievements, sharing your feelings with a loved one (preferably outside of the setting in which you feel impostorism), expecting to make mistakes at the beginning of a new experience, and seeking out a mentor who has charted a similar path are a few of the concrete steps that can fight imposter syndrome.
Who should people with imposter syndrome turn to for support?
In certain situations, turning to a colleague or mentor who understands one's feeling of insecurity can be advantageous. But research suggests that reaching out to people outside of one's academic or professional circle may be a better tool to combat impostorism. Those individuals can put the person's concerns into context, recalibrate their perspective, and offer support and love.
How can you prevent your child from developing imposter syndrome?
Two types of messages can spark imposter syndrome in children: constant criticism, which makes them feel like they'll never be good enough, and universal, superlative praise ("You're the smartest kid in the world!"), which instills high expectations and pressure. Parents can prevent imposter syndrome by praising effort not outcome, and by helping children realistically understand their strengths and weaknesses.
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