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Doctor insights on: Genetic Testing And Marfan Syndrome

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Dr. Scott McLean
1,244 Doctors shared insights

Genetic Testing (Definition)

Prenatal testing for genetic problems may be done before or after conception. Testing for spina bifida or Down syndrome is done after a pregnancy is established. Besides the couples listed above, counseling and diagnosis are also recommended for mothers over the age of 35, and those who have received abnormal screening test results, such as alpha-fetoprotein (AFP). For more information about the alpha-fetoprotein test, and when and why you might have it, see alpha-fetoprotein. For those who may be at risk, genetic counseling and prenatal diagnosis are used to help ...Read more


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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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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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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?

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.

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How effective is atenolol (Tenormin) for treating Marfan syndrome?

How effective is atenolol (Tenormin) for treating Marfan syndrome?

Aortic Dilatation: There are two chronic issues in Marfan's from the cardiovascular point of view. 1. Ascending aortic dilatation. 2. Mitral valve disease. By reducing heart rate and blood pressure, Atenolol reduces shear stress in the ascending aortic, reducing the rate of dilatation. By reducing blood pressure, the mitral valve will be less incompetent. Take the med. See your doctor regularly.

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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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Does Marfan syndrome affect the brain?

No: Marfan syndrome affects the eyes and damages one's vision, and the syndrome affects the lining of the spinal cord, but it typically does not cause brain problems.

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How does Marfan syndrome affect your eyes?

Many: There can be lens displacement, near sighted ness, retinal detachments. .. Most do just fine!

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How effective is vascular grafting for treating Marfan syndrome?

How effective is vascular grafting for treating Marfan syndrome?

Vascular grafting: Should one get an aneurysm related to Marfan, grafting can be very effective, otherwise grafting is rather superfluoius to the diagnosis

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Is a collasped lung due to Marfan syndrome common?

Is a collasped lung due to Marfan syndrome common?

Not Entirely Common: Marfan's patients can have spontaneous collapse of the lungs (known as pneumothorax). I would not say it is very common but it can occur. Typically marfan's patients have small air pockets at the top of the lungs called blebs. These blebs can rupture causing an airleak into the space between the lung and the chest wall. The air pushes on the lung causing the collapse.

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Why do Marfan syndrome people have hyperextesible joints?

Why do Marfan syndrome people have hyperextesible joints?

Lax joints: The joints are lax as marfans interferes with collagen tissue that gives support to joints.

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Can people with Marfan syndrome crack their knuckles easily?

Can people with Marfan syndrome crack their knuckles easily?

Not necessarily.: Joint popping and joint pain may be present, but marfan is different in almost every patient.

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What can I do for my Marfan syndrome asthma, allergies, etc.?

What can I do for my Marfan syndrome asthma, allergies, etc.?

Routine meds: Routine allergy and asthma medications such as claritin, zyrtec, benadryl, (diphenhydramine) singulair, antihistamine eye drops, antihistamine or steroid nasal sprays, steroid oral inhalers, carefully-used bronchodilator inhalers, etc... Should all be ok to use in Marfan syndrome. Bronchodilator inhalers, if overused, will cause a rapid heart rate, which is not desired in Marfan syndrome patients.

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Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


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