Marfan’s Syndrome_
Description
Marfan’s Syndrome is a disease that is passed on from one generation to the next. It affects the connective tissues of the body which support all parts of the body (Mayo Clinic, 2013). Connective tissues also help control how the body grows and develops (Pyeritz, 2008). This genetic disease majorly affects the connective tissues of the heart and blood vessels, eyes, bones, and lungs. The tissues covering the spinal cord are also affected by this genetic disorder. Major complications do arise due to the fact that the disease affects many parts of the body. The complications can be lethal (Pyeritz, 2008). The diseases occurs when a mutation or change occurs on the gene that controls how the body makes fibrillin, a protein that is crucial component of the body’s connective tissues. As had been previously mentioned there are higher chances that parents suffering from Marfan’s Syndrome can pass this to the offspring (Pyeritz, 2008). In fact, there is a 505 chance that a parent can passed their altered genes to each of their children. This disease affects the long bones of the body like the limbs.
Genes and chromosomes linked to this disorder
The syndrome is carried by the gene FBN1 (Kainulainen, Karttunen, Puhakka, Sakai, & Peltonen, 1994). This gene encodes for the connective protein fibrillin. Because Marfan’s Syndrome is a dominant genetic trait children who inherit even one copy of Marfan’s FBN1 from any of the parent develop the syndrome and have a potential of passing this gene to their children (Pyeritz, 2008). Other than the mutation to the gene FBN1, Marfan’s Syndrome occurrence can also be attributed to the presence of transforming growth factor beta (TGF-beta). This protein has deleterious effects on vascular smooth muscle development and the integrity of the extracellular matrix. Fibrillin is perceived to be the major structural component of the connective tissues. However, it also binds to the transforming growth factor beta which if present in excess at the lungs, heart valves, and aorta weakens the tissues and causes the features of the Marfan’s Syndrome (Pyeritz, 2008). Angiotensin II receptor antagonists (ARBs) like lasortan reduce the transforming growth factor beta that is associated with Marfan’s Syndrome incidence that is why it is normally detected in small samples in young patients who have severely been affected by the Marfan’s Syndrome.
Populations Affected by Marfan’s Syndrome
Marfan’s Syndrome affects both males and females in equal proportion. It doesn’t exhibit ethnic or geographical bias. One in every three thousand individuals is affected by the Marfan’s Syndrome. It is a fairly common medical condition that 1 in every 10,000 to 20,000 people. It affects people of all races and ethnic backgrounds (Cleveland Clinic, 2013).
Signs and symptoms of the Syndrome
This disease has many signs and symptoms some of which can be confused with other marfanoid syndromes. It is therefore not prudent to diagnose the syndrome on the basis of a person’s appearance. Diagnosis done without the benefit of genetic testing should assess non-skeletal clinical and laboratory findings (Van de Velde, Fillman, & Yandow, 2006).
Individuals with Marfan’s Syndrome have above average heights with long and slender limbs. These individuals have long, thin, weak wrists. Individuals with this disease may also have abnormal indentation and scoliosis. They have abnormal joint flexibility, stooped shoulders, and flat fleet. Patients often complain of pain in the joints (Van de Velde, Fillman, & Yandow, 2006). There are also isolated cases of speech disorders. Those with Marfan’s Syndrome have limited range of motion in the hips because of the protrusion of the femoral head into deep hip sockets.
Marfan’s Syndrome adversely affects the cardiovascular system. Because of this the patients complain of undue fatigue and shortness of breath. Racing heartbeats may also be exhibited with pain to the back, shoulder, or arms (Dyhdalo & Farver, 2011). Because of inadequate circulation of blood in the body, the patients may also have cold arms, hands, and feet. If a patient exhibits signs of angina, there is need for further investigation because there may be high chances that this patient may be suffering from Marfan’s Syndrome. Doctors should be very weary on establishing that a patient is having a dilated aorta or an aortic aneurysm. Heart problems may not be noticed until the connective tissues have been weakened. This is technically referred to as cystic medial degeneration (Dyhdalo & Farver, 2011). This may degenerate into aortic aneurysm or aortic dissection in the ascending aorta. This condition calls for a surgical emergency. It is characterized with pain that radiates down the back with a tearing sensation. Instead of replacing the damaged heart valves they should instead be repaired.
Marfan’s Syndrome does not have major pulmonary symptoms. However, people with the condition sometimes suffer from spontaneous unilateral pneomothorax where air escapes from the lungs and occupy the pleural space between the chest wall and the lungs leading to the partial compression or collapse of the lung (Dyhdalo & Farver, 2011). This is accompanied with pain, shortness of breath, and cyanosis. The Marfan’s Syndrome also causes pathologic changes in the lungs like and congenital malformations.
Marfan’s syndrome affects the casing of the spinal cord known as the dural sac leading to a condition known as dural ectasia. The connective tissues making up this sac is specifically affected. The weakening of this connective tissue though not life threatening can significantly reduces an individual’s quality of life (Dyhdalo & Farver, 2011). The condition can persist without showing any noticeable symptoms. One may only go through some episodes of back pain, leg pain, abdominal pain, and headache. The signs will go away once a person lies flat on his back. To ascertain what is actually wrong it is incumbent that a doctor orders an MRI of the lower spine (Dyhdalo & Farver, 2011). The MRI image will show a dilated pouch wearing away at the lumbar vertebrae.
Detection and diagnosis
This disorder is diagnosed on the basis of family history. Some other major and minor indicators of the disorder in the general population that occur in an individual like the skeletal signs, ocular and cardiovascular signs can also be used in diagnosis (Dyhdalo & Farver, 2011). Some of these conditions have been discussed above. Some outstanding conditions include heart palpitations, pneomothorax, scoliosis, cystic medial necrosis among others (De Paepe, Devereux, Dietz, Hennekam, Pyeritz, 1996). This syndrome is clinically diagnosed. Its diagnosis requires a multidisciplinary approach that requires assessment of different organ system. The eyes, heart and blood vessels, spine, and skeletal systems have to be assessed. Other than the history of family members who may have had the problems other tests like chest x-ray, electrocardiogram, and echocardiogram are used to evaluate changes in the heart and blood vessels (Cleveland Clinic, 2013). The tests also detect heart rhythm problems. If some sections of aorta cannot be visualized using echocardiogram, transesophageal echo (TEE), magnetic resonance imaging, or computed tomography scan can be used. Blood samples can also be used to diagnose the syndrome. The blood test looks for changes in FBN1 gene (Cleveland Clinic, 2013).
Treatment
Marfan’s Syndrome does not have a cure. However, certain genetic processes can be used to manage it. One such process is called pre-implantation genetic testing therapy (PGT). The process involves genetically testing IVF embryo cells at an early stage and discarding embryos that have been affected by Marfan mutation (Harton, Tsipouras, & Sission, 1996).
The syndrome is also treated by preventative medication for young children that slows down the progression of aortic dilation (Cameron & Vricella, 2005). Cardiologists must regularly monitor the health of the heart valves and the aorta with a view to eliminating arrhythmias and minimizing heart rate and blood pressure (Harton, Tsipouras, & Sission, 1996). Beta blockers control arrhythmias and slow the heart rate (Keane & Pyeritz, 2008). The ACE inhibitors and Angiotensin II receptor antagonists minimize blood pressure.
Ongoing researches
Research is at advanced stage to show the role TGF-beta plays in the occurrence of the Marfan’s Syndrome owing to the fact that it has deleterious effect on smooth muscle development and integrity of the extracellular matrix. Current researches are also focusing on how to help people with Marfan syndrome live long and productive lives (Marfan Foundation, 2013). Current researches have also identified new disorders related to Marfan Syndrome. These have allowed for better and specific diagnosis. They have also helped to pinpoint more effective treatments for Marfan syndrome and other disorders (Marfan, 2013).
References List
Cameron, D.E. & Vricella, L.A. (2005). Valve-sparing aortic root replacement in Marfan
Syndrome. Seminars in Thoracic and Cardiovascular Surgery 8 (1): 103 — 11.
Cleveland Clinic (2013). Marfan Syndrome. Retrieved from http://my.clevelandclinic.org/heart/disorders/aorta_marfan/marfan.aspx
De Paepe, A., Devereux, R.B., Dietz, H.C., Hennekam, R.C., & Pyeritz, R.E. (1996). Revised
Diagnostic criteria for the Marfan syndrome. American Journal of Medical Genetics, 62
(4), 417 — 26.
Dyhdalo, K. & Farver, C. (2011). Pulmonary histological changes in Marfan syndrome: a case
Series and literature review. American journal of clinical pathology, 136 (6), 857 — 63.
Harton, G.L., Tsipouras, P., & Sisson, M.E. (1996). Pre-implantation Genetic Testing for Marfan
Syndrome. Molecular Human Reproduction, 2(9), 713-715.
Kainulainen, K., Karttunen, L., Puhakka, L., Sakai, L., & Peltonen, L. (1994). Mutations in the Fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.
Natural Genetics 6 (1), 64 — 9.
Keane, M.G., & Pyeritz, R.E. (2008). Medical Management of Marfan’s Syndrome. Circulation 117 (21), 2802 — 2813.
Pyeritz, R.E. (2008). A small molecule for a large disease. New England Journal of Medicine,
358 (26), 2829 — 31.
Marfan Foundation (2013). Current Research. Retrieved from http://www.marfan.org/about/current-research
Mayo Clinic (2013). Marfan Syndrome. Retrieved from http://www.mayoclinic.com/health/marfan-syndrome/DS00540
Van de Velde, S., Fillman, R., & Yandow, S. (2006). Protrusio acetabuli in Marfan syndrome.
History, diagnosis, and treatment. The Journal of bone and joint surgery American
volume, 88 (3), 639 — 46.
Are you busy and do not have time to handle your assignment? Are you scared that your paper will not make the grade? Do you have responsibilities that may hinder you from turning in your assignment on time? Are you tired and can barely handle your assignment? Are your grades inconsistent?
Whichever your reason is, it is valid! You can get professional academic help from our service at affordable rates. We have a team of professional academic writers who can handle all your assignments.
Students barely have time to read. We got you! Have your literature essay or book review written without having the hassle of reading the book. You can get your literature paper custom-written for you by our literature specialists.
Do you struggle with finance? No need to torture yourself if finance is not your cup of tea. You can order your finance paper from our academic writing service and get 100% original work from competent finance experts.
Computer science is a tough subject. Fortunately, our computer science experts are up to the match. No need to stress and have sleepless nights. Our academic writers will tackle all your computer science assignments and deliver them on time. Let us handle all your python, java, ruby, JavaScript, php , C+ assignments!
While psychology may be an interesting subject, you may lack sufficient time to handle your assignments. Don’t despair; by using our academic writing service, you can be assured of perfect grades. Moreover, your grades will be consistent.
Engineering is quite a demanding subject. Students face a lot of pressure and barely have enough time to do what they love to do. Our academic writing service got you covered! Our engineering specialists follow the paper instructions and ensure timely delivery of the paper.
In the nursing course, you may have difficulties with literature reviews, annotated bibliographies, critical essays, and other assignments. Our nursing assignment writers will offer you professional nursing paper help at low prices.
Truth be told, sociology papers can be quite exhausting. Our academic writing service relieves you of fatigue, pressure, and stress. You can relax and have peace of mind as our academic writers handle your sociology assignment.
We take pride in having some of the best business writers in the industry. Our business writers have a lot of experience in the field. They are reliable, and you can be assured of a high-grade paper. They are able to handle business papers of any subject, length, deadline, and difficulty!
We boast of having some of the most experienced statistics experts in the industry. Our statistics experts have diverse skills, expertise, and knowledge to handle any kind of assignment. They have access to all kinds of software to get your assignment done.
Writing a law essay may prove to be an insurmountable obstacle, especially when you need to know the peculiarities of the legislative framework. Take advantage of our top-notch law specialists and get superb grades and 100% satisfaction.
We have highlighted some of the most popular subjects we handle above. Those are just a tip of the iceberg. We deal in all academic disciplines since our writers are as diverse. They have been drawn from across all disciplines, and orders are assigned to those writers believed to be the best in the field. In a nutshell, there is no task we cannot handle; all you need to do is place your order with us. As long as your instructions are clear, just trust we shall deliver irrespective of the discipline.
Our essay writers are graduates with bachelor's, masters, Ph.D., and doctorate degrees in various subjects. The minimum requirement to be an essay writer with our essay writing service is to have a college degree. All our academic writers have a minimum of two years of academic writing. We have a stringent recruitment process to ensure that we get only the most competent essay writers in the industry. We also ensure that the writers are handsomely compensated for their value. The majority of our writers are native English speakers. As such, the fluency of language and grammar is impeccable.
There is a very low likelihood that you won’t like the paper.
Not at all. All papers are written from scratch. There is no way your tutor or instructor will realize that you did not write the paper yourself. In fact, we recommend using our assignment help services for consistent results.
We check all papers for plagiarism before we submit them. We use powerful plagiarism checking software such as SafeAssign, LopesWrite, and Turnitin. We also upload the plagiarism report so that you can review it. We understand that plagiarism is academic suicide. We would not take the risk of submitting plagiarized work and jeopardize your academic journey. Furthermore, we do not sell or use prewritten papers, and each paper is written from scratch.
You determine when you get the paper by setting the deadline when placing the order. All papers are delivered within the deadline. We are well aware that we operate in a time-sensitive industry. As such, we have laid out strategies to ensure that the client receives the paper on time and they never miss the deadline. We understand that papers that are submitted late have some points deducted. We do not want you to miss any points due to late submission. We work on beating deadlines by huge margins in order to ensure that you have ample time to review the paper before you submit it.
We have a privacy and confidentiality policy that guides our work. We NEVER share any customer information with third parties. Noone will ever know that you used our assignment help services. It’s only between you and us. We are bound by our policies to protect the customer’s identity and information. All your information, such as your names, phone number, email, order information, and so on, are protected. We have robust security systems that ensure that your data is protected. Hacking our systems is close to impossible, and it has never happened.
You fill all the paper instructions in the order form. Make sure you include all the helpful materials so that our academic writers can deliver the perfect paper. It will also help to eliminate unnecessary revisions.
Proceed to pay for the paper so that it can be assigned to one of our expert academic writers. The paper subject is matched with the writer’s area of specialization.
You communicate with the writer and know about the progress of the paper. The client can ask the writer for drafts of the paper. The client can upload extra material and include additional instructions from the lecturer. Receive a paper.
The paper is sent to your email and uploaded to your personal account. You also get a plagiarism report attached to your paper.
GET A PERFECT SCORE!!! 
Delivering a high-quality product at a reasonable price is not enough anymore.
That’s why we have developed 5 beneficial guarantees that will make your experience with our service enjoyable, easy, and safe.
You have to be 100% sure of the quality of your product to give a money-back guarantee. This describes us perfectly. Make sure that this guarantee is totally transparent.
Read moreEach paper is composed from scratch, according to your instructions. It is then checked by our plagiarism-detection software. There is no gap where plagiarism could squeeze in.
Read moreThanks to our free revisions, there is no way for you to be unsatisfied. We will work on your paper until you are completely happy with the result.
Read moreYour email is safe, as we store it according to international data protection rules. Your bank details are secure, as we use only reliable payment systems.
Read moreBy sending us your money, you buy the service we provide. Check out our terms and conditions if you prefer business talks to be laid out in official language.
Read more