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Marfan disease research paper
Marfan disease research paper
Marfan syndrome report paper
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When assigned to study a disease, it was easy to choose because of having a family who is suffering with heart problems. Marfan syndrome hit home since my father was diagnosed, as well as, my first cousin. The causes of this disease are not specific with the exception of it being a genetic disease. However, the symptoms are quite easy to detect when the physician is made aware of family history. Since the causes are unclear, it is important that families know about these symptoms. This disease has no cure (Ho 1978), but when the symptoms are known to a person carrying the disease, a lifestyle can be developed which can allow the carrier to lead a fairly normal life. These symptoms affect the body’s heart and blood vessels, lungs, bones and joints, nervous system, teeth, and eyes. Knowing these symptoms makes a difference to those who have been diagnosed with Marfan syndrome and/or people who believe they are a genetic carrier of this disease.
The first symptom is the heart and blood vessels. The heart and blood vessels are shown to affect approximately 30% to 60% of people diagnosed with Marfan syndrome; heart and blood vessel problems are the most common in the syndrome (Stout 1077). The aorta, heart valves, and blood vessels surrounding the heart can be affected. It is important that early and correct diagnoses be identified before these areas can lead to life threatening emergencies. The aorta can become enlarged (aortic dilation) and the walls of the aorta may swell causing an aortic aneurysm (Dean 724). These are very serious problems since patients are at risk for tearing or rupturing the aorta. Doctors use a “Z-score” to describe the size of the aorta; however, the aorta changes in size from childhood to adulthood (Dean 7...
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...Web. 16 Jan. 2014.
Dean, John C. S. “Marfan Syndrome: Clinical Diagnosis And Management.” European Journal Of Human Genetics 2007: 724-733. Academic Search Premier. Web. 16 Jan. 2014.
Ho, Nicola C. Y., Joseph R. Tran, and Arsun Bektas. “Marfan’s Syndrome.” Lancet 2005: 1978-1981. Academic Search Premier. Web. 16 Jan. 2014.
Judge, Daniel P., and Harry C. Dietz. “Marfan’s Syndrome.” Lancet. 2005: 1965-1976. Academic Search Premier. Web. 16 Jan. 2014.
Komaroff, Anthony L., ed. Harvard Medical School: Family Health Guide. New York: Simon & Schuster, 1999. Print.
Kunz, Jeffrey R.M., ed. The American Medical Association: Family Medical Guide. New York: Random House Inc., 1982. Print.
Stout, Martin. “The Marfan Syndrome: Implications for Athletes and Their Echocardiographic Assessment.” Echocardiography 2009: 1075-1081. Academic Search Premier. Web. 16 Jan. 2014.
Examination revealed an oxygen saturation of 98% and blood pressure of 145/90. Oropharyngeal inspection revealed significant crowding (Mallampati class 3) with macroglossia. Chest auscultation was clear and two heart sounds were audible with nil else.
According to “Heart Disease and Marfan Syndrome” (n.d.) Marfan syndrome is caused by a change in the gene that controls how the body makes fibrillin, a part of connective tissue that contributes to its elasticity and strength. It is also stated that Marfan syndrome is mostly inherited from a parent, but 1 in 4 cases occurs when the patient has no known family history of the disease. To add, the condition occurs
Raynaud syndrome is an auto-immune disorder in which blood vessels in the digits constrict. It usually strikes females between the ages of eighteen and thirty. “Between three to five percent of people are affected.” (Harvard, 2003) There is no known cause or cure. (Segala et al, 2003) Clinical features primarily deal with (but are not limited to) the digits of the fingers. Other digits that may be affected include toes, nose, and ear lobes. Exposure to cold and emotional stress triggers the vasoconstriction of the digits. It was originally described by the Catholic, French physician Maurice Raynaud in 1862. In this condition, the vasospastic response is more frequently induced by exposure to cold temperatures and is often accompanied by digital color changes. After onset, a tri-color change [blanching (white), cyanosis (blue), and reactive hyperemia (red)] occurs. “Pallor (blanching) shows vasospasm and loss of arterial blood flow, cyanosis shows the deoxygenation of static venous blood, and rubor (red) shows reactive hyperemia following return of blood flow.” (Bowling, 2003) Theories for the causes of Raynaud syndrome include: arterial wall damage, connective tissue disease (CTD), or repetitive use of vibrational tools. (Ko, 2002)
Weyman, A. E., & Scherrer-Crosbie, M. (2004). Marfan syndrome and mitral valve prolapse. Journal of Clinical Investigation, 114(11), 1543-6. Retrieved from http://search.proquest.com/docview/200501268?accountid=158514
...esearch that improves diagnosis and treatment for all of the different body systems that are affected by the single gene mutation known as Marfan syndrome. This includes the respiratory system…the lungs, and the skeletal system…scoliosis, joints, and ligaments, visual… vision, and cardiovascular…the heart and the blood vessels like the aortic valve (Marfan Foundation, 2013). Genetic testing also helps to identify where the mutations are exactly and this can help with treatment advances for Marfan syndrome.
With the diagnosis of disease comes many life altering events. Someone’s world can be turned upside down at the moment it is recognized and these people have no choice but to adjust. Sometimes, the disease has the power to inhibit even the most simple activities, or in some lucky cases, inhibit almost none.
McKusick, Victor A., Cassandra L. Kniffin, and Joanna. "#268800-Sandhoffs Disease." Online Mendelian Inheritance In Man, 25 Mar. 2009. Web. 10 Feb. 2014. .
This chronic disease can be prevented, can be treated professionally at the very beginning of the process however, this disease cannot be cured. There are ...
One of the leading causes of death in the United States is heart disease. “Approximately every 29 seconds one American will have a heart attack, and once a minute one American will die from a heart attack” (Ford-Martin and Odle, 915). According to the Gale Encyclopedia of Alternative Medicine men over the age of 45 and women over the age of 55 are considered at risk for heart disease. Heart disease is a major cause of death. It is beneficial to individuals who seek to prevent heart disease to recognize the risks leading to heart attacks as they are one of the primary indications of developing heart disease; especially those that fall into the at risk age groups. These risks consist of some that cannot be changed such as heredity risks, or those that can change such as smoking habits. It is very important to know these specific risks for prevention and to understand the symptoms of heart attacks, such as sweating or the feeling of weakness so if these or other symptoms occur people are aware. Finally heart disease treatment is of vital importance if you experience a heart attack so you can learn how to prevent another one from occurring.
Most often the disease starts in the left ventricle, and then often spreads to both the atrium and right ventricle as well. Usually there will also be mitral and tricuspid regurgitation, due to the dilation of the annuli. This regurgitation will continue to make problems worse by adding excessive volume and pressure to the atria, which is what then causes them to dilate. Once the atria become dilated it often leads to atrial fibrillation. As the volume load increases the ventricles become more dilated and over time the myocytes become weakened and cannot contract as they should. As you might have guessed with the progressive myocyte degeneration, there is a reduction in cardiac output which then may present as signs of heart failure (Lily).
The commonest defect is a narrowing of the main artery from the heart aortic coarctation. A regular ultrasound examination of the heart ... ... middle of paper ... ... s are relatively limited. So far, researchers think it will be possible to increase the final height by 5-10 centimeters, depending on the duration of treatment.
Cardiovascular System: He does not experience any chest pain or palpitation. He does not have dyspnea or leg swelling.
This is a genetic condition that is characterized by the dramatic, rapid appearance of aging beginning in childhood. Children with this condition more often have prominent eyes, thin lips, a thin nose, and protruding ears. Alopecia is also common and so is aged looking skin and joint abnormalities. Hardening of the arteries (arteriosclerosis) is also common. This increases the chances of having a heart attack or a stroke. This condition is rare and is reported to occur in 1 in 4 million newborns worldwide. This condition is diagnosed by genetic testing along with other physical examinations. This condition is caused by a mutation in the LMNA gene. The LMNA provides instructions for making proteins called lamin. This condition results in the production of an abnormal version of the lamin A protein. Because of this mutated protein, the nuclear envelope is unstable and the nucleus becomes progressively damaged. The average life expectancy for someone with this disease is approximately 13 years old. There is not a known cure for this disease, but medications and therapy can help alleviate
In 1990, my aunt Ann started experiencing heart-problems. My family was very close to Ann because she lived only a block away. Aunt Ann would walk over to our house everyday for a visit. During this particular summer, Ann noticed that she was becoming increasingly out of breath from just the short walk. The entire family strongly urged that she see a doctor as soon as possible.
In this paper, I will be discussing my family health history as illustrated in the disease family tree. What is family health history? Family health history refers to a collection of information about diseases that run in your family, as well as the eating habits, activities, and environments that your family shares. The knowledge about diseases in your family can help you make healthy choices. One’s family history can affect one’s health in different ways since we inherit many things from our parents and grandparents; genes passed on to you from your parents can determine your health. Some genes can increase one’s chances of developing certain diseases but it can also depend on the type of environment, life style or behavior, geographical