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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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.
1. Outline the causes, incidence and risk factors of the identified disease and how it can impact on the patient and family (450 words)
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
Marfan syndrome is a Single Gene Mutation and the gene that is mutated is FBN 1 (Fibrillin 1).The gene is located on chromosome 15 and the disorder’s mode of inheritance is autosomal dominant. This means that females and males are equally affected and that only one gene, “abnormal” gene is needed from either parent to be inherited in. Fibrillin 1 basically affects the elasticity of connective tissue. The gene makes many fibrillin proteins and these fibrillin proteins then join together to form a long, and string like object called microfibrils.
I have chosen to do this research paper on a very rare disease that directly affected my family. My Husbands Uncle, at the young age of 54, was diagnosed with Wegener’s Disease and survived only six short months from the time of his diagnosis. He was severely ravaged by the disease by nearly every symptom that I will explain further in this research paper.
Marfan syndrome (MFS) is known as an autosomal dominant hereditary disorder of connective tissue. Connective tissue helps support all parts of the body. It also helps control how the body grows and develops. Principal manifestations involve the ocular, skeletal, and cardiovascular systems. MFS is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1) which is located on chromosome 15(Marcheix, 2008). There are many mutations that can cause Marfan Syndrome, but most common are missense in that they are single-nucleotide changes that result in the substitution of a single letter that leads to a single amino acid change in the protein. The change in the amino acid alters the shape of the fibrillin proteins. The irregularly-shaped protein then assembles into irregularly shaped microfibrils. Fibrillin is a major element of microfibrils, which store a protein called transforming growth factor beta (TGF-β), a critical growth factor. TGF-β helps control the proliferation of cells, cell differentiation, cell movement, and apoptosis. Microfibrils help regulate the availability of TGF-β, which is deactivated when stored in microfibrils and activated when released. The increase in TGF-β and abnormalities involving microfibrils causes problems in connective tissues throughout the body such as malformations and disfigurements of the ligaments, spinal dura, lens zonules, and lung airways(Marcheix, 2008). The heart is also greatly negatively impacted through a weakening of the aortic wall, progressive aortic dilatation or aortic disjointing can occur because of strain caused by left ventricular contractions.
Eisenmenger Syndrome (ES) is a heart defect that was first giving the name in 1897 (Fukushima, 2015). This syndrome happens when the birth defect is not treated before the lungs’ arteries become damaged. Eisenmenger Syndrome is named after Victor Eisenmenger a man who had a patient who showed symptoms such as, breathing complications and skin that was turning a bluish color. The autopsy of this patient lead him to discover a ventricular septal defect [VSD] (El-Chami, 2014), that causes a hole in the wall on the right and left ventricular. This is the defect that begins when signaling for pulmonary artery hypertension, which progresses into more advanced stages of ES. This birth defect eventually causes patients to have various
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
PAD may be underdiagnosed due to the fact that is can be asymptomatic. It is estimated that as many as half of people with PAD have no symptoms. An artery may have a 60% or greater narrowing before symptoms are felt. This may be due to collateral circulation, where the body develops arties to bypass the hardened arteries (Vascular Disease Foundation, 2012). PAD can be a clinical indicator of more serious vascular disease and can increase the risk of heart attack and stroke. (Olin & Sealove, 2010). Early diagnosis and treatment can be effective in management of this and other vascular diseases.
Marfan Syndrome is name after Antoine Marfan. He was a French pediatrician who first describe the condition in 1896. Marfan Syndrome other known as the connective tissue disorder, is an inherited tissue disorder. It is the missfloding of protein fibrillin. (code fibrillin-1) Marfan affects the connective tissue of heart, blood vessels, eyes, bones, lungs and covering of spinal cord. There are so many affected parts in the body because of Marfan Syndrome, because of this it can cause many complications which can be life threatening.
McCance, K. L., Huether, S. E., Brashers, V. L., & Rote, N. S. (2010). Pathophysiology: The biological basis for disease in adults and children. (6th ed., pp. 1644-1645). Maryland Heights, Virginia: Mosby.
What do Michael Phelps, Abraham Lincoln, Mary Queen of Scots, & Tutankhamen all have in common? Although these may seem like completely unrelated names, these are all people suspected of having Marfan’s Syndrome, a genetic mutation obtained through heredity. How does DNA (Deoxyribonucleic Acid) and its complex (structure) relate to inheritance of traits in organisms—especially in humans? DNA is inherited from ones biological parents, and is the basis of heredity. It contains the code for all of our attributes, including how they will form. DNA is composed of four different chemicals, otherwise knows as nucleotide bases—A, T, C, & G. DNA is found in chromosomes—and each offspring receives one chromosome from their mother and father (each). In DNA, there are genes— specific sequences that carry hereditary information and control he expression of this hereditary traits. Heredity is the expression of characteristics obtained form ancestor to descendant through the transmission of genes. Inconsistencies can occur in these genes, however. Environmental & hereditary agents cause changes in ...
...s exist as an inherited disease in some families. The majority of case studies show that the patients affected have no family history of the disease.
Marfan syndrome (MFS) is a fairly common inherited connective-tissue disorder. The syndrome can be found in 1 in every 5000 births worldwide (Giarelli, Bernhardt, & Pyeritz, 2010). MFS has been recognized for more than 100 years, in fact it was speculated that Abraham Lincoln had the disorder (Amado & Thomas, 2002). There is still no current cure, but early recognition and intervention can play a key role in the prevention of the sudden cardiac complications (Midla, 2008). For those Marfan patients diagnosed the life expectancy is close to normal, yet tends to be under diagnosed (Pyrietz, 2000). The nurse should have a broader understanding of MFS since recognition is essential for the diagnosis. Since MFS is primarily an inherited disorder, it of equal importance that the nurse understands that a referral to a geneticist is an imperative n...
In the case study of an Italian family where of 288 relatives over 6 generations, 29 are affected by the disorder. The average age of onset of the disease is 49, but this may vary with the individual as with one female who was 61 years of age.
Cardiovascular System: He does not experience any chest pain or palpitation. He does not have dyspnea or leg swelling.