ipl-logo

Marfan Syndrome Research Paper

741 Words3 Pages

About 1 in 5,000 people have Marfan syndrome and about 3 out of 4 people with the syndrome will inherit it. Marfan syndrome is a genetic disorder that will affect the body’s connective tissue. The connective tissue in the body is what holds and supports organs and tissues together. The damages along with the disorder can be mild or severe. Marfan syndrome will affect everyone equally, men and women. No matter what the race, ethnicity or age. With age the disease will worsen. The greatest risk factor of getting Marfan syndrome is having a parent who has the disorder and passes it down to their children. The autosomal dominant trait is passed through families and some cases are due to mutations. And there is a 50% chance the mutation will …show more content…

Family history and symptoms must be there to confirm diagnosis, and other tests may be performed to determine if the disease is present or not. One of the first tests that would be performed or recommended would be an echocardiogram. This will check to make sure the heart valves and size of the aorta are normal. Computerized tomography or magnetic resonance imaging may be used as well. If someone were to have the disease they will receive regular echocardiograms to monitor the heart. Eye exams may be used as well such as a slit-lamp exam and pressure test. The slit-lamp exam checks to see if the lens has been dislocated, cataracts are present, or a retina is dethatched. The eye pressure test will check for glaucoma. If tests aren’t clear genetic testing can be done to confirm a diagnosis. Surgeries may also be performed to replace part of the aorta. This would help if someone had an aorta that was stretched and not working well. If there are problems with the heart certain medications may be taken such as beta-blockers to help the heart beat slower, and blood thinners to help prevent clotting. Surgery may also help for people whose chest has sunk in or is sticking out. Glasses or contact lenses will help if the patient has eye problems. Chest tubes may have to be placed if someone with Marfans has a pneumothorax to get the air out of the

Show More
Related

  • Erickson Stage

    1026 Words  | 5 Pages

    For example, there was a kid she is 8 year old she came for hypothyroidism. She also had some symptoms of diabetes. The nurse screened her for diabetes by doing urine test, Accu check, and A1C. The result was positive diabetes type II.

    Read More

  • Diagnostic Medical Sonography Essay

    1061 Words  | 5 Pages

    Although, sonography technology is used to diagnosis many other medical conditions such as conditions in the heart, breast, abdomen, blood vessels and musculoskeletal problems. This technology works along with x-ray, MRI and CAT scans. (Diagnostic, 2016) Diagnostic medical sonographers are

    Read More

  • Abraham Lincoln Marfan Syndrome

    981 Words  | 4 Pages

    It is extremely important to look out for symptoms of Marfan syndrome. Scientists have been able to discover the symptoms of the syndrome from experimenting on mice. Symptoms include: flat feet, over-flexible joints, scoliosis, thin face, and a funnel chest. The disease may also effect the lens of the eyes due to the weakness of the ligaments. In addition, this disease may affect several internal organs.

    Read More

  • Noonan Syndrome Research Paper

    733 Words  | 3 Pages

    Noonan Syndrome Having a family member or child with an uncommon condition can be pretty extreme. When it comes to these conditions, they are usually some sort of mutation or run in the family 's genetics. Noonan Syndrome is a rare condition that affects an individual 's physical appearance, mental state, and genetic makeup, but varies in each affected person. In 1963, Noonan Syndrome was first described by a heart-specialist, Jacqueline Noonan.

    Read More

  • Sonography Research Paper

    408 Words  | 2 Pages

    The sonographer will then go into the patient's room then look. If anything is wrong or something doesn’t look right, the sonographer will take it to the cardiac doctor or the OB/GYN fro closer look at what might be the problem ("Summary.",

    Read More

  • Multiple Sclerosis Lab Report

    481 Words  | 2 Pages

    Eliminating Other Disease With A Blood Test While testing the blood alone does not bring a positive answer for this health problem, it does rule out other diseases that may produce similar symptoms, such as; cancer vitamin and mineral difiencies lupus erythematosis other infections rare hereditary disorders Measuring Brain

    Read More

  • Familial Dysautonomia Research Paper

    879 Words  | 4 Pages

    Familial dysautonomia (FD), also called Riley Day Syndrome and hereditary and sensory autonomic neuropathy type 3 (HSAN3), is an inherited disorder that affects the development and survival of some sensory and autonomic neurons.4,5 It is almost exclusively present in Ashkenazi Jews. About 1 out of 32 Ashkenazi Jews are carriers. The disease frequency is 1 out of 3700 for Ashkenazi Jews.5 Familial dysautonomia is exceedingly rare in the non Ashkenazi Jewish population.

    Read More

  • Cystic Fibrosis

    706 Words  | 3 Pages

    Cystic Fibrosis is caused by a mutated gene that changes the protein that controls the salt in and out of the cell. There are many different mutation which can change the severity of the disease in each case. For this to be passed on a child must receive one copy of the gene from each parent to develop this disease. If a child receives a copy from only one parent then

    Read More

  • Genetic Counseling Association Case Analysis Paper

    411 Words  | 2 Pages

    For a child to be born with CF, both of their parents must be “carriers of CF” and that child must inherit a mutated CFTR gene from each parent. If both parents are “carriers of CF” then there is a 1 in 4, or 25% likelihood their child will be born with CF. 2) If both parents are “carriers of CF” then there is a 1 in 2, or 50% likelihood that their children will be “carriers of CF”.

    Read More

  • Alzheimer's Disease Informative Speech Outline

    1191 Words  | 5 Pages

    1. Similar to other diseases like, say, cancer, having family members who have it can increase your chance of getting it, though specific genes have been difficult to truly pin. 2. For those with Down syndrome, a gene contained in the extra chromosome increase the risk. 3.

    Read More

  • Patient Assessment: Emergency Medical Technician

    993 Words  | 4 Pages

    Assess Circulation. Does the patient have a pulse? Are they bleeding all over? What does their skin look like? Is it warm and pink or is it blue and clammy?

    Read More

  • Marfan Syndrome Essay

    553 Words  | 3 Pages

    Marfan 's Syndrome is a heritable disorder of the connective tissue. It affects many body systems, like the lungs, skeleton, heart, eyes, and arteries. These parts affected may sound like they are unrelated but they are all affected by a mutation in a single gene on Chromosome 15. This gene is named FBN1 for the protein it encodes, fibrillin-1. What causes this mutation is the amino acids that builds proteins mix up a certain code on each protein and it makes the wrong amino acids that are put on the proteins.

    Read More

  • Essay On Cystic Fibrosis

    1202 Words  | 5 Pages

    Cystic Fibrosis is a hereditary condition, and for a child to get the disease, they have to get one copy of the defective gene from their mother and their

    Read More

  • Myasthenia Gravis Research Paper

    1075 Words  | 5 Pages

    The infant may develop temporary muscle weakness and associated findings (i.e., transient neonatal myasthenia gravis). The passage of anti-acetylcholine receptor antibodies through the placenta to the unborn child during pregnancy may cause this condition to the infant. Some of the myasthenia gravis is inherited as an autosomal recessive, or more rarely, an autosomal dominant condition is described as congenital myasthenia gravis. The individual that inherits two copies of an abnormal gen for the same trait from each parent, the individual will have recessive genetic disorders. If the individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease but usually will not show symptoms.

    Read More

  • Genetic Disorders

    826 Words  | 4 Pages

    A genetic disorder is a topic in Science that cannot be avoided. The fact is that genetic disorders can happen in humans, plants or animals, to date no form of life is documented as being safe from a genetic disorder. A genetic disorder can appear in the beginning stages of life or can appear much later in life when least expected. A fundamental principle of biology states that the behavior of chromosomes during the meiosis process can account for genetic inheritance patterns (quote). There are many reasons for genetic disorders; genetic disorders primarily caused by specific abnormalities observed in several genes.

    Read More

More about Marfan Syndrome Research Paper

Open Document