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Doctor insights on: Can Or Should I Get Treatment If Marfan Syndrome And Infertility

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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.

Dr. Khurram Rehman
1,238 Doctors shared insights

Infertility (Definition)

Infertility = inability to conceive or if a woman under age 35 - not being able to get pregnant after having regular sex for a year without birth control use. For a woman over 35 years old is not being able to get pregnant after having regular ...Read more


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I have dural ectasia and have constant pain and stiffness I don't have Marfan syndrome what can I do for treatment or type of doctor besides pain meds?

I have dural ectasia and have constant pain and stiffness I don't have Marfan syndrome what can I do for treatment or type of doctor besides pain meds?

Back pain / ectasia: A condition like dural ectasia can be very troublesome. Besides pain medication, people with this condition may respond to physical therapy, surgery, stimulator therapy or muscle relaxant treatment. Recruiting a physiatrist or PMR doctor and a neurosurgeon to your team would be helpful.

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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.

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For someone with Marfan syndrome. Is there treatments that can prolong his life expectancy?

For someone with Marfan syndrome. Is there treatments that can prolong his life expectancy?

Several treatments!: Yes! children and adults with marfan syndrome can have gradual widening of the aorta - the major artery connected to your heart. Sometimes the aorta becomes so weak that it breaks. But your cardiologist can use an ultrasound machine to watch your aorta very carefully. She can treat you with medicines to slow down the enlargement, and your chest surgeon can even replace your aorta if necessary.

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I think I have Marfan syndrome, but I'm not sure if I want to go get checked. Will it affect insurance?

I think I have Marfan syndrome, but I'm not sure if I want to go get checked. Will it affect insurance?

Unknown: The new health care law says that insurers cannot deny insurance for "preexisting conditions". So if this health care law stays in place it will not be a problem. No matter what, if you may have marfan's you need to have it confirmed, and if positive see a cardiologist. With good care, pts with marfan's can have normal lifespan. Without care they can have cardiac problems.

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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.

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Is Marfan syndrome dangerous? Any possible medication to get rid of the possible health problems?

Is Marfan syndrome dangerous? Any possible medication to get rid of the possible health problems?

Potentially yes..: Marfan syndrome is a disorder of the connective tissues which strengthen the body--medically, it affects the skeletal (weaker tissues, joints, flatfeet etc), cardiovascular (dilated aortic root, valve trouble etc.), eye (cataract/lense dislocation), and skin systems. Most dangerous is involvement in the heart as above. Unfortunately, no specific medication available. Consult doc. Good luck.

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Please explain if it is possible to only have the physical conditions of Marfan syndrome and if so how can I get rid of it?

In your genes: Marfan syndrome is caused by a mutation in in the gene that codes for fibrillin-1. You cannot change your genes. Abnormal or deficient fibrillin production affects the structure of your eyes, heart, blood vessels, and bones and ligaments. The severity of effects in different individuals is highly variable.

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Could preimplantation genetic diagnosis or genetic engineering get rid of diseases like Marfan syndrome?

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.

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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?

I am able to do the hand signs for Marfan syndrome but wasn't diagnosed yet, can I just look like a marfan?

Doctors can evaluate: A person with a few of the marfan syndrome features can see a primary care doctor and a geneticist. The geneticist specializes in diagnosing genetic disorders such as marfan syndrome. A person has to have a certain number of signs & symptoms before he is diagnosed as marfan syndrome. If less than the minimum signs & symptoms, he may have marfanoid habitus (appearance) but not have marfan syndrome.

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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.

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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.

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Is it true you can be classed as disabled if you have Marfan syndrome?

Doubtful: That's a great question for a disability lawyer. (you're unlikely to find any on this website).

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Does aneuploidy cause Marfan syndrome?

Marfan is caused by: A mutation in the fibrillin gene on the long arm of chromosome 15, 15q15-q21.3. Autisomal dominant inheritance with widely variable clinical findings. Aneuploidy is having an abnormal # of chromosomes from a genetic accident during cell reduction (meiosis).

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Could I detect Marfan syndrome before or after birth?

Yes, prenatally: Prenatal diagnosis of Marfan syndrome is possible through DNA testing of fetal tissue obtained by chorionic villi sampling or amniocentesis.

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How effective is a vitrectomy for treating Marfan syndrome?

How effective is a vitrectomy for treating Marfan syndrome?

Effective: I have attached a study that looked at the success of vitrectomy surgery in people with Marfan's and it had 45 patients with 53 surgeries and listed successful reattachment 86% of the time http://www. Ncbi. Nlm. Nih. Gov/pubmed/12172108

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Why is my Marfan syndrome child so lazy and always tired?

May be the treatment: The beta-blocker medications used to control a marfan syndrome patient's blood pressure and heart rate can cause fatigue. If such a side effect seems to be happening, the patient's primary care doctor or cardiologist can re-evaluate.

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How effective is losartan (Cozaar) for treating Marfan syndrome?

How effective is losartan (Cozaar) for treating Marfan syndrome?

Losartan: Losartan treats high blood pressure, as such to the extent is lowers pressure it is helpful in dealing with vascular changes in Marfan's which predispose to aneurysm formation. It doesn't treat the underlying Marfan's physiology directly.

Dr. Scott McLean
335 Doctors shared insights

Marfan Syndrome (Definition)

An inherited connective tissue disorder where body shape is long thin arms hands and fingers and arm length ...Read more