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Doctor insights on: Marfan Syndrome

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Dr. Scott McLean
336 Doctors shared insights

Marfan Syndrome (Overview)

An inherited connective tissue disorder where body shape is long thin arms hands and fingers and arm length is greater than height.


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I'm worried that I have Marfan syndrome, please help me diagnose myself?

I'm worried that I have Marfan syndrome, please help me diagnose myself?

Build a team: Marfan syndrome is a complex condition that requires a team of experts in genetics, ophthalmology, and cardiology to establish or exclude the diagnosis. A good place to start is with your primary care provider and with some help from the national Marfan foundation. Their website has a section written especially for someone like you: http://www. Marfan. Org/marfan/2406/diagnosis#suspect. ...Read more

Dr. Scott McLean
336 Doctors shared insights

Marfan Syndrome (Overview)

An inherited connective tissue disorder where body shape is long thin arms hands and fingers and arm length is greater than height.


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How does Marfan syndrome affect the heart?

How does Marfan syndrome affect the heart?

Enlarges aortic root: Patients with Marfan syndrome have tendency to develop aortic wall enlargemnt causing mainly aortic root aneurysms. This can lead to aortic valve insufficency and also aortic dissection which is a tear in the wall of the aorta. ...Read more

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Managing Carpal Tunnel Syndrome (Checklist)

Wear a wrist brace at night
daily
Take pain medications as directed
Once
Use proper posture when performing tasks
Once
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Is joint cracking and popping a symptom of marfan's syndrome?

Is joint cracking and popping a symptom of marfan's syndrome?

Yes: People with marfan's can have joint cracking and popping, but joint popping and cracking is seen in many diseases and in many healthy people without joint disease. ...Read more

Emily Lu Dr. Lu
2 doctors agreed:
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I am able to do the hand signs for Marfan syndrome but wasn't diagnosed yet, can I just look like a marfan?

Emily Lu Dr. Lu
2 doctors agreed:

Joint hypermobility: Joint hypermobility is only one of the symptoms that is used to diagnose Marfan syndrome (along with reduced upper to lower body segment ratio, longer arm span than height, dislocated lens in the eye, among others). Joint hypermobility can occur in otherwise healthy individuals and should be managed with muscle strengthening and other exercises to protect the joints. ...Read more

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Living with Asperger's Syndrome (Checklist)

Learn about your condition
once
Practice stress management and mindfulness
2x day
Do not be afraid to ask for feedback
3x day
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Could preimplantation genetic diagnosis or genetic engineering get rid of diseases like Marfan syndrome?

Yes: An embryo could be tested for the Marfan mutation and only implanted if it did not contain that mutation. The same is true for a large number of other autosomal dominant or recessive diseases. ...Read more

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Which skeletal diagnostic tests are performed to diagnose Marfan syndrome?

Which skeletal diagnostic tests are performed to diagnose Marfan syndrome?

Several features: Features suggestive of Marfan syndrome include: above-average height, long arms, long fingers, flat feet, high-arched palate, narrow face, crowded teeth, small lower jaw, pectus carinatum (pigeon chest), pectus excavatum (sunken chest), hunchback (hunchback), scoliosis (crooked back), hypermobile/hyperflexible joints, etc... ...Read more

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Living with Polycystic Ovarian Syndrome (Checklist)

Eliminate low-fat, high-carb foods from your diet
once
Monitor your weight and review your diet daily
daily
Blend exercises that make sense into your daily routine
daily
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If you have Marfan syndrome, will they know it immediately after you are born?

If you have Marfan syndrome, will they know it immediately after you are born?

Likely Not: Diagnosing Marfan syndrome is based on a long list of specific criteria. Most infants will not exhibit the symptoms immediately after birth. So it is very unlikely to know immediately. ...Read more

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Does being very tall mean you have Marfan syndrome?

Does being very tall mean you have Marfan syndrome?

Not Necessarily: But it is possible. A visit to the doctor with that question in mind should provide the answer. ...Read more

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Living with Down Syndrome (Checklist)

Enroll in an early intervention program
Once
Get help from local and national support groups
Once
Consider getting help from mental health professionals
Once
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Can or should I get treatment if Marfan syndrome and infertility?

Can or should I get treatment if Marfan syndrome and infertility?

It depends.: If you are a man or a woman you need genetic counseling to understand the risk of genetic transmission. To avoid this risk, ivf+preimplantation genetic diagnosis is available for Marfan syndrome. If you are a man or a woman then you need to be tested for various fertility factors just like any-one who's unable to conceive for 1y. Women need cardiac evaluation esp. For aortic root dilatation. ...Read more

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Living with Irritable Bowel Syndrome (Checklist)

Try to notice and avoid precipitating factors
Once
Start a trial of increased dietary fiber
Once
See your primary care physician or gastroenterologist if symptoms persist
Once
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What treatments/medications are there for someone with Marfan syndrome?

For the heart...: From a cardiologist's perspective, we want to make sure that the aorta is not too enlarged and that the blood pressure is well controlled. Classically we use a beta blocker to reduce wear and tear on the aorta, but newer trials are ongoing to see if a class of medicines known as ACE-inhibitors are helpful for this. There are important eye and ligament things to keep track of as well. ...Read more

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Managing Restless Leg Syndrome (Checklist)

See a vein specialist
Once
Check your cholesterol medications
Once
Have a venous ultrasound to check for reflux
Once
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Does someone with celiac disease have a higher risk of also having Marfan syndrome?

No association: Don't believe that there is any association between the two. ...Read more

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I have Marfan syndrome. Is there tests that can prolong my life expectancy?

I have Marfan syndrome. Is there tests that can prolong my life expectancy?

An echocardiogram: If you have Marfan syndrome, you should be aware that your cardiologist can use ultrasound to watch for the gradual enlargement of your aorta. Depending on your age, height, and weight, she can determine whether your aorta is growing larger than normal and recommend either medicine, like a beta blocker, or surgery to prevent dissection or rupture of the aorta. ...Read more

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Living with Chronic Fatigue Syndrome (CFIDS) (Checklist)

Don't overdo it when you have more energy than usual
Once
Try slow and steady movement like qigong, tai chi, or yoga
Once
Consider natural medical alternatives such as dipsacus
Once
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What is Marfan syndrome?

Genetic disorder: Of connective tissue that affects many bodily systems. The national Marfan foundation has a very nice website that will answer any questions you have about Marfan syndrome. Go to www. Marfan. Org. ...Read more

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What is Marfan syndrome?

Marfans/ehler danlos: Marfan syndrome is a connective tissue disorder, tissues that strengthen bodies structures.
In most cases it is inherited condition, but approx 30% of patients have no family history
tall arms and height, affects lungs, heart and aorta, eyes causing cataract, skin problems, and tissue covering the spinal chord. ...Read more

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What causes Marfan syndrome?

What causes Marfan syndrome?

Genetic mutation: Marfan syndrome is caused by a gene mutation (in the fbn1 gene). A mutation leads to defective, weakened connective tissue throughout the body. Symptoms show up in the parts of the body where shape and structural integrity relies a lot on the weakened type of connective tissue. ...Read more

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What exactly is Marfan syndrome?

What exactly is Marfan syndrome?

Genetic disorder: Fbn1 gene controls connective tissue metabolism. If there are mutations or repeats, then marfa's will result. The symptoms are the result of malformed collagen. So dislocated lens in eye, heart valve problems, scoliosis, pneumothorax, artery problems may occur. Most cases are inherited, but occasionally marfan's occurs from a spontaneous mutation. This gene can be tested for in a blood specimen. ...Read more

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How dangerous is Marfan syndrome?

Marfan syndrome: Affects the body's connective tissue and can cause problems in the eyes, joints, and heart. Marfan syndrome has no cure, but doctors can provide symptomatic management. ...Read more

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How to know if I have Marfan syndrome?

Marfan syndrome: Affects the body's connective tissue and can cause problems in the eyes, joints, and heart. Marfan syndrome has no cure, but doctors can provide symptomatic management. ...Read more

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How to tell if I have Marfan syndrome?

See the details: If you are tall, have very flexible joints, have any issues with the lenses of your eyes as well as other numerous finding on exam, you may have it. Have your doctor take a look or refer you to a rheumatologist. ...Read more

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Is Marfan syndrome a sex-linked disease?

No: Marfan syndrome is an autosomal dominant connective tissue disorder caused by abnormal microfibrillin protein. If a parent is affected by the disorder, their offspring has a 50/50 chance of inheriting it, regardless of whether the baby is a boy or a girl. ...Read more

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Question: what is Marfan syndrome really?

Question: what is Marfan syndrome really?

Www. Marfan. Org: Fibrillin-1 gene defect leads to inefficient connective tissue building. It is inherited 70% of time. Symptoms occur in any organ that is dependent on healthy connective tissue such as the heart, lungs, skin, eyes. Marfans are tall people with thin narrow face, scoliosis, heart disease, small jaw, spidery fingers, flat feet, abnornal chest bone. You should see your dr if you suspect having it. ...Read more

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What are the symptoms of Marfan syndrome?

Long arms, fingers: Tall, thin appearance. Pigeon chest (pectus carinatum), long fingers (arachnodactyly), dilated aorta (seen on echocardiogram). Dislocated lens in the eye. Severe near sightedness. Scoliosis. Flat feet. High arched palate. Thin head with small cheekbones.
Most symptoms involve heart, musculoskeletal and eyes. It is inherited in an autosomal dominant fashion. ...Read more

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How can I tell if I have Marfan syndrome?

Abraham Lincoln: Lanky like abraham lincoln - arm span longer than height and there is a high-arched palate that is characteristic, but also found in normal individuals. ...Read more

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What are the symptoms of Marfan syndrome?

Congenital: Congenital condition which can cause hypermobility of joints, eye lens dislocation and aortic dissection. ...Read more

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How to figure out if I have Marfan syndrome?

Testing: Physical exam and blood tests can help to determine whether you have marfan's syndrome. ...Read more

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How can you tell if you have Marfan syndrome?

Having the features: Features suggestive of Marfan syndrome include: above-average height, long arms, long fingers, flat feet, high-arched palate, narrow face, crowded teeth, small lower jaw, pectus carinatum (pigeon chest), pectus excavatum (sunken chest), hunchback (hunchback), scoliosis (crooked back), hypermobile/hyperflexible joints, etc... A person with several of these features can see a doctor for evaluation. ...Read more

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I have Marfan syndrome. Should I not have kids?

Maybe not: A Marfan syndrome woman has a 50% chance of having a Marfan syndrome baby, if the father of the baby is "normal". During pregnancy, the woman needs close monitoring because she is at increased risk of rupturing her aorta (often fatal). For these reasons, she may not want to become pregnant. ...Read more

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How does a baby get tested for Marfan syndrome?

How does a baby get tested for Marfan syndrome?

See a geneticist: There are many options for genetic testing for Marfan syndrome, but for a baby the best answer comes not from tests but from a careful history, family history, and physical examination. Sifting through the information and making sense of it in light of the new diagnostic guidelines (the 2010 ghent criteria) may show you that testing makes sense - or maybe not. Your clinical geneticist can help. ...Read more

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What can you tell me about the Marfan syndrome?

Marfans syndrome: Inherited disorder of connective tissue but can be sporadic. Usually dx in adolescence. Affects: Skin, bone (teeth, spine), eyes (lens dislocation), nervous and cardiovascular system (aorta, associated with mitral valve prolapse). Features: Tall, thin, long arms & legs, fingers. ...Read more

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Can people with Marfan syndrome live long lives?

Varies by severity: People with mild Marfan syndrome symptoms probably live a pretty normal lifespan. Those with severe symptoms can die from heart valve problems, rupture of the aorta, tension pneumothorax, etc..., before they reach old age. Of course, those with moderate symptoms will have a lifespan in between. ...Read more

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What tests are done to diagnose Marfan Syndrome?

Multiple: There is no single test for Marfan's Syndrome. After the clinical suspicion raised, a detailed exam with a focus on heart with EKG and Echo, imaging and genetic history will be needed for the confirmation. ...Read more