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
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. ...Read more
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
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
Doubtful: That's a great question for a disability lawyer. (you're unlikely to find any on this website). ...Read more
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). ...Read more
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. ...Read more
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
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. ...Read more
Not necessarily.: Joint popping and joint pain may be present, but Marfan is different in almost every patient. ...Read more
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. ...Read more
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
ADHD has not been: Proven to have an increased incidence in Marfan syndrome; it occurs ~! the same rate as in other kids. Take medical & psychological reports that confirm diagnoses to his teacher & request a " section 504" for classroom accommodations for "other health impairment, " if he has no learning disability that requires an individualized educational plan under public law idea. See chadd. Org for more info. ...Read more
I am able to do the hand signs for Marfan syndrome but wasn't diagnosed yet, can I just look like a marfan?
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
Why do patients with Marfan syndrome feel pain in their chest? And they normal complain that the pain moves upward toward the shoulder
Call MD: Marfan's can cause heart & lung disease which is sometimes life threatening. I hope you have called your doctor to address these issues. Not something to discuss on HealthTap. ...Read more
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
Not Necessarily: But it is possible. A visit to the doctor with that question in mind should provide the answer. ...Read more
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