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Doctor insights on: Marfan Syndrome Pedigree Chart

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Dr. Venkata Chilakapati
Board Certified, Cardiology
17 years in practice
1M people helped
1

1
Can you tell me the features of the disorder Marfan syndrome?

Can you tell me the features of the disorder Marfan syndrome?

Marfan's syndrome: It is a broad topic. Difficult to cover here. Please refer to the site: http://en.Wikipedia.Org/wiki/marfan_syndrome. ...Read more

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Dr. Vicken Poochikian
Board Certified
36 years in practice
2M people helped
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Dr. Scott McLean
282 doctors shared insights

Marfan Syndrome (Definition)

Marfan's syndrome is a genetic disorder caused by defects in a protein called fibrillin that, along with collagen, provides most of the structural support of our tissues. Individuals with Marfan's are often tall, lanky, have long arm spans, and are hyperflexible. The most serious complication of Marfan's is caused by defects in the wall of the aorta, the large blood vessel that leaves the heart and supplies the ...Read more


Brian Fishman
Board Certified, Emergency Medicine
3 years in practice
149K people helped
2

2
Is Marfan syndrome a sex-linked disease?

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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Dr. Vicken Poochikian
Board Certified
36 years in practice
2M people helped
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Dr. Robert Kwok
Board Certified, Pediatrics
27 years in practice
10M people helped
3

3
Can people with Marfan syndrome live long lives?

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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Dr. Scott McLean
Board Certified, Clinical Genetics
29 years in practice
206K people helped
4

4
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

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Dr. Vicken Poochikian
Board Certified
36 years in practice
2M people helped
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Dr. Robert Kwok
Board Certified, Pediatrics
27 years in practice
10M people helped
5

5
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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Dr. Robert Kwok
Board Certified, Pediatrics
27 years in practice
10M people helped
6

6
Does Marfan syndrome only affect males?/does Marfan syndrome only affect females?

Affects men & women: Marfan syndrome is autosomal dominant, not sex-linked. About one in 3000-5000 people have marfan syndrome. It affects an equal number of males and females. ...Read more

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Dr. Ihab Ibrahim
Board Certified, Pain Management
23 years in practice
9M people helped
7

7
Why does my Marfan syndrome teenager complain of being giddy?

Worth an Evaluation: Simpler to get them checked out for complications and sleep knowing they are ok. http://www.marfan.org/marfan/2493/. ...Read more

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Dr. Carla Enriquez
Board Certified, Adolescent Medicine
44 years in practice
19M people helped
8

8
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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Dr. Mark Diamond
Board Certified, Pediatrics
40 years in practice
16M people helped
9

9
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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Dr. Robert Kwok
Board Certified, Pediatrics
27 years in practice
10M people helped
10

10
I think I have Marfan syndrome, what should I do?

I think I have Marfan syndrome, what should I do?

Doctors can evaluate: A person who may have marfan syndrome should see his doctor and a geneticist to confirm the diagnosis. If confirmed, he can get more information from the national marfan foundation website. He should also see specialists, such as a cardiologist to check the heart and aorta, an ophthalmologist to check the eyes, etc... He can notify his relatives to check their aortas, etc... ...Read more

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Dr. Vicken Poochikian
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36 years in practice
2M people helped
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