Doctor insights on:
Genetic Testing And Marfan Syndrome
How accurate is genetic testing for Marfan syndrome? If child has some features, is it worth testing? Docs check his heart & scoliosis. Is that enough
Very accurate: Yes you need genetic testing (chromosomes) to confirm Marfan Synd. Speak to the doctor and follow the advice.
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
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.See 1 more doctor answer
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.
Doubtful: That's a great question for a disability lawyer. (you're unlikely to find any on this website).
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).See 1 more doctor answer
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.
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.See 2 more doctor answers
Vascular grafting: Should one get an aneurysm related to Marfan, grafting can be very effective, otherwise grafting is rather superfluoius to the diagnosis
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.See 1 more doctor answer
Lax joints: The joints are lax as marfans interferes with collagen tissue that gives support to joints.
Not necessarily.: Joint popping and joint pain may be present, but marfan is different in almost every patient.
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.See 1 more doctor answer
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
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