Heart disease genetic screening

Common Questions and Answers about Heart disease genetic screening

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541609 tn?1273879848 genetic prescreening today - all good so far. Baby measured 11w/5d heart beat 158 and no signs of downs or genetic issues.
Avatar n tn I have a genetic form of familial hyperchloresterolemia and I live in the fear of having another heart attack or stroke with all the plaque in my arteries. I take meds, but the fear is still there. Genetic factors a lot of risks where heart disease is concerned. Early detection and treatment is always the way to go.
Avatar n tn m looking for a mother willing to share her story for an article about screening for genetic diseases. Looking for stories about children whose diseases were recognized in time, or that could have been if the state offered the right screening test. If you can help, please respond. Thanks!
Avatar f tn There is an association with increased nuchal measurements and a higher incidence of heart defects, Down syndrome, and other conditions, but just because your baby has an increased nuchal does NOT necessarily mean there will be problems. Many babies with increased nuchal early in first trimester have no apparent problems at delivery or in later development. Did your OB do blood testing (screening) along with measuring nuchal translucency?
Avatar f tn They are most commonly NOT associated with genetic syndromes. In fact, we do not know why most heart defects occur in the absence of a genetic syndrome. And, genetic syndromes definitely make up the minority of the reasons for congenital heart disease. I obviously cannot promise you that your baby doesn't have a genetic syndrome.
Avatar f tn It would be worth getting checked out by your primary care doctor. The three most important metrics are blood pressure cholesterol and glucose. I'm 50 and have a family history of heart disease and have done a considerable amount of research this past year. Modern medicine will tell you that a lot of it is genetic, but that is not necessarily true. The inherited tendancy is only a predisposition and it doesn't necessarily dictate the outcome.
Avatar n tn Diabetes mellitus (sugar diabetes) results from iron deposits in the liver. Heart problems (irregular heart rhythm or heart failure), arthritis and impotence have all been reported. Hemochromatosis can be diagnosed by liver biopsy and in family members of identified cases by genetic screening tests. The only treatment that can lower the iron is phlebotomy (regular removal of blood, analogous to giving a unit of blood at regular intervals).
Avatar n tn - low set ears - small head (microcephaly) that is abnormally shaped - small jaw (micrognathia) - small mouth - clenched fists with overlapping fingers - congenital heart defects - kidney defects and problems - clubfoot - underdeveloped fingernails - undescended testicle (cryptorchidism) in males - unusual shaped chest (pectus carinatum) Some of these abnormalities may be seen on a comprehensive ultrasound. However, ultrasound is not diagnostic of genetic disease.
Avatar n tn : Pt is 56yo male with genetic heart disease. Post CABG x5 (2 mammaries, radial and sequential vein), MI on table, sequential graft to circumflex failed immediately post-op. : : Echo @ 6wks showed posterior wall down with episodes of non-sustained V-tach. : : EP study and AICD. Angina post-op until angioplasties and stent to Circumflex @ 6mos post-op. Anastomosis of mammary to LAD found to be sutured 95% closed. : : Some angina with Thallium stress @ 6mos post stent.
Avatar n tn He just said he STRONGLY suggests we get this blood work done and that we see the head of genetics for genetic counseling. The hospital is offering genetic screening for my husband and I at no cost now (we go Thursday for the blood draw) and we'll see a geneticist first week of December. I am interested in the results as we have a lot of health issues on my mom's side of that family that follow the path of Tangier complications. Can you tell me what the implications of this are?
Avatar f tn Hi ! Has any one you been to a genetic screening? I am 12 weeks preg and am due for a genetic screening. Hope I wouldn't have to go for an amniocentesis.
Avatar f tn Prenatal genetic counselling and genetic screening tests such as first trimester screening or the quad screen, amniocentesis or chorionic villus sampling may b indicated. Take care and do keep us posted.
Avatar n tn I'm not familiar with the research you are refering to. Certainly there may be a genetic role in cardiomyopathy and currently the majority of cases of dilated cardiomyopathy are due to unknown reasons. If there is a genetic role it would certainly raise a number of new questions including who should be screened and how should people with the gene but no cardiomyopathy be treated.
Avatar n tn iron counts are usually not a problem unless you have hemochromatosis, a genetic disease in which too much iron is absorbed. Patients with hemochromatosis have excess iron deposition in the liver causing scarring and even cirrhosis. Iron deposition in the skin can give tyhe skin a bromze color. Diabetes mellitus (sugar diabetes) results from iron deposits in the liver. Heart problems arthritis and impotence have all been reported.
Avatar f tn Ok had a prenatal screening test and the test came out that my baby may be born wit genetic abnirmalties. Wha gf dkes this mean? is there any thing that can be done for it? I just want aanswer. This is my first child.
Avatar f tn I have a question > My father had heart attacks and genetic heart disease which he was postive for factor 5 so I had the test done. I am postive for factor 5 506Q single was identified and the Mthfr SINGLE MUTATION(a1298c WAS IDENTIFIED do this mean that my chances for increased thrombosis or heart attacks are high for me? Just wodnering and I dont' smoke and Im 45 years old and I stress easy.
Avatar n tn A related discussion, <a href='/posts/show/1016284'>autoimmune disease</a> was started.
Avatar n tn Overall, in about half of patients who have unexplained left ventricular hypertrophy, no genetic change is found. Therefore, genetic testing may be useful in confirming a diagnosis, but not as useful in excluding the diagnosis. As you know, the diagnosis of HCM is made clinically by demonstrating unexplained left ventricular hypertrophy, usually by noninvasive cardiac imaging.
Avatar m tn The government does recommend screening children for cholesterol issues at age 2 if one of the parents has a history of heart disease. However, some studies show that low HDL in young children is more common than previously thought, and that link to future heart disease is not clear. You're right that this is likely genetic, but there is not much data to suggest that trying to raise the HDL will have any impact on the child's future cardiovascular health.
Avatar f tn Your son is suffering from SMA type 3 also known as Kugelberg-Welander Disease or Juvenile SMA.Main symtom is proximal muscular weakness.Best screening test for sibling/offspring is genetic testing for chromosome 5 which is a type of DNA based blood test.
Avatar n tn Hello, I have just started my 14th week of pregnancy and have recently gotten my results for my First Trimester screening which came back with increased risk for Down Syndrome. I am curious about my numbers and in finding out more what they mean, etc.. My Free Beta HCG (MOM) is 2.68; PAPP-A MOM is .55; NT(mm) 1.9 I am scheduled for an amnio on Nov. 8th as after the screening my risk of having a child with Down's is 1/184.
Avatar m tn What is the maternal serum screening is that the same as the NT screening I just had done? There are so many different tests...so confusing.
Avatar n tn My daughter (15 years old) was just diagnosed with a fusiform and possibly saccular aneurysm. My mother died at 53 due to an aneurysm. I was told that aneurysms are often genetic and that they generally don't skip generations. I guess that means that I also have one. I am going to be screened as soon as things settle down with my daughter and she is ok. Any info you might provide me?
Avatar f tn HARD markers for DS include absent or small nasal bone and thickened nuchal fold. Did you have genetic serum screening prior to your anatomy scan? I see choroid plexus cysts and pyelectasis every week. You say enlarged kidneys. That is much different from pyelectasis. Any other questions I may be able to with?
Avatar n tn Baby appears to be negative for all major genetic defects. No symptoms from blood proteins or the nucal folds at neck.
Avatar m tn can any one tell me that is heart disease genetic...or it can happen to any one..