Clinical Manifestation of Marfan Syndrome - Report Example

Marfan syndrome is a disease that affects the connective tissue (Cipriano et al. 57); it affects approximately 5000 people. This disease contributes significantly in the prevention of the proper production of fibrilin that is responsible for the strengthening of the connective tissue. According to Nevin (284), out of four members with Marfan syndrome three of them must be having a family member with the same disease. Marfan syndrome is regarded as a dominant trait that is often associated with the gene referred to as FBN1, a gene that produces fibrilin. In connection to this, Cipriano et al. (57), asserts that Marfan syndrome can be regarded as a genetic disorder that results from the mutation of the FBN1 gene that is located on chromosome 15. In most occasions, a patient that inherits an FBN1 gene that is affected develops Marfan syndrome because of its dominance. As a result of this, it is evident that any parent that has Marfan syndrome has 50% possibility of passing the disease to his or her offspring. In tandem to this, Noronha (251) asserts that 26% of the Marfan syndrome cases do not have family history. Marfan syndrome is not gender based; it affects both women and men at equal rates. Although this disease was discovered in 1896, the criteria for diagnosing it were accepted by the international medical community in 1996. However, the 1996 criteria were advanced in 2010. The advancement led to the presentation of over 30 signs. Management of this disease has been difficult for very many years because of not only its rarity, but also because of the insignificant population it affects (Nevin 284). Clinical manifestation of Marfan syndrome The clinical features of Marfan syndrome are very many. They range from external features to internal organs. The syndrome is associated with anterior chest deformities as well as aortic root dilation. It also results to the dislocation of the lens in addition to causing myopia. Other features that result from the disease include extreme arched palate skin striae as well as crowding of the teeth. Some of the clinical features Marfan syndrome are distinct. However, there are some signs that may crop from other diseases. For instance, rheumatic heart disease is also known of resulting to mitral valves’ damages (Cipriano et al. 57). Thus, correct diagnosis of Marfan syndrome calls for use of Ghent criteria that give numerous classifications for the syndrome. Ghent criteria were introduced in 2010 in order to replace other criteria that resulted to misdiagnosis. The new criteria, the criteria of 2010, emphasized on two main features of Morfan; aortic root aneurysms or dissection and an ectopia lentis which is regarded prominent in testing for FBN1 gene. Ectopia lentis is also thought as a scoring system for the remaining Marfan syndrome features (Bentley 285). In connection to Bentley’s assertion, Nevin asserts that skeletal, as well as ocular manifestations are the most common symptoms of the syndrome. Additionally, he claims that the disease results to abnormal lengthening of the limbs. Thus, according to Nevin, Marfan syndrome can be depicted by signs such as tallness, lanky stature as well as long arms and legs. He also claims that the syndrome signs can include long fingers and toes, flexible joints along unusual sterna protrusion. According to Nevin, ocular changes are as a result of degraded connective tissue. From Nevin’s assertion, one can depict that the eye of the patient may appear unusually big to the clinician. Effects of Marfan syndrome on the respiratory system MS results to disintegration of elastic fibers of airways as well as pulmonary parenchyma, which is associated with the increase of the lung’s elasticity. Such defects cause to resistance to exhalation as well as residual volume, and, as a result, impair PF. Alterations of the PF as a result of MS also leads to occurrence of other diseases like pneumothorax and bronchiectasis. The complication also leads to pneumonia and pulmonary fibrosis. The complications in the pulmonary system also affect the functionality of the pulmonary system. Cardiovascular effects of Marfan syndrome Usually, blood flows very fast and at high pressure on the left side of the heart compared to the right side. Unfortunately, this movement of blood renders the right side of the heart at risk of damage, mainly on the persons suffering from Marfan syndrome. In most occasions, Marfan syndrome have been found to hamper with the functionality of the valves found on the left side of the heart, a thing that may result to bulging of the valves which is also associated with the occurrence of regurgitation (Benthley 285). Effects of Marfan syndrome on the aorta People having Marfan syndrome may also suffer from the damage of the aorta. According to Benthley, arteries and veins have layers that contain elastin that enables them to expand and contract, to enhance the propulsion of blood in the circulatory system. Marfin syndrome damages elastin in the aorta, and, as a result, causes aortic root dilatation because of the loss of elasticity. According to Benthley (286) and Cipriano et al. (57), the weakening of the wall of the aorta as a result of the syndrome may lead to dissecting aortic aneurysms. It is also the aortic dissection that results to premature deaths associated with Marfin syndrome. Effects of Marfan syndrome on skeletal features As introduced above, Marfan syndrome also affects the skeletal features. This is evidenced by the elongation of lower limbs; the ratio of the upper limb and the lower limb differ significantly. According to Nevin, 50% of the people with Marfan syndrome have scoliosis, a condition depicted by the s-shape of the spine’s curvature. Unfortunately, such severe skeletal deformation may impair the functionality of the cardiac as well as the lung (Cipriano 58). Additionally, it is evident that the disease may result to lumbosacral dural ectasia, a condition that involves the enlargement of the dura located in the sacrolumbar region. Marfan syndrome may also result to abnormal projection of the femoral head, and, as a result, cause impaired mobility in addition to pain. Effects of Marfan syndrome on pregnant women According to Nevin (4), pregnant women with Marfan syndrome are the ones that are at high risk of developing aortic dissection, as well as aneurysm. They are also the ones that are at high risk of dying if dissection takes place even with employment of surgical interventions. Treatment of complications that result from Marfan syndrome Aortic root dilatation is managed through use of beta blockers. However, in severe condition surgery is employed. Beta blockers slow the heart rate in addition to reducing the blood pressure in the aorta that has been weakened by the syndrome. Other treatments such as the use of angiotensin-converting enzyme inhibitors, as well as calcium channel antagonists, are used. However, these treatments are outworn by the beta blockers because they are more effective in the management of the aorta disease. As introduced above, surgery is also employed as a treatment method when the aorta dilation exceeds 5cm. Control of hypertension also plays a very significant role in the management of the disease. According to Nevin (287), it is vital for one to seek for elective surgical repair as early as possible if he or she suffers from aortic aneurysm because emergency surgery as a result of advanced aneurysm often results to loss of life. Treatment of skeletal complications as a result of the syndrome involves physiotherapy, bracing as well as surgery. Management of Marfan syndrome According to Noronha (205), the main reason for the management of the Marfan syndrome is to curb it from causing life-threatening complications. In other words, Noronha believes it is crucial for early diagnosis of the syndrome to be made in order to curb the occurrence of its severe symptoms. Since there is no specific cure for the disease, it is crucial for proper care management to be employed when handling patients in order to improve prognosis as well as increase the lifespan of an individual. According to Noronha, it is also advisable for the occasional checks on the aorta to be made in order to determine the size as well as the function of the aorta. Use of blockers may also aid significantly in the reduction of pressure as well as stress. Annual checkups of the skeletal structure in addition to monitoring abnormal curvatures of both the spine and the chest are also crucial. Methods used determining the effect of Marfan syndrome According to Cipriano et al. (58), sixty-one patients suffering from MS were used in the study after being diagnosed of the disease by aid of Ghent criteria. Fifteen of the patients were barred from performing SE because they had severe dilatation. 46 patients evaluated were 20 ± 0.51 years. 29 of the total patients were females. The control for the experiment comprised of 29 people of the age 19 ± 5 years. These individuals were also tested for MS through use of Ghent criteria. The pairing of the individuals was done randomly. The researcher used standardized questionnaire in evaluating the patients. Height was measured via aid of stadiometer and the distance between two fingers of the arms was also recorded. All data analyises were carried out by the aid of statistical software package. Continuous parameters were also recorded and compared via aid of student’s t-test. Results of the study The results evidenced that there was no difference of results in relation to demographic and anthropometric characteristics. Thirty of the studied patients had family history related to MS. The principal medication for the disease was β-blocking agent. 43.48% of the patients were suffering from prolapsed valve whereas three of the people had mild regurgitation. Dilatation of the aorta was also seen in 22 patients (Cipriano et al. 63). Conclusion PF is lowered in patients suffering from MS. Complications in the thoracic cage as a result of the MS also result to reduced PF. Diagnostic studies opt to be carried out in order to improve the clinical handling of patients with MS (Cipriano et al. 64). Works Cited Bentley, Peter. "Marfan Syndrome: Biological Basis And Genetics." British Journal Of Cardiac Nursing 8.6 (2013): 284-288. CINAHL Complete. Web. 23 Nov. 2014. Cipriano et al. Safety and Cardiovascular Behavior During Pulmonary Function in Patients with Marfan Syndrome. Clinical Genetics. 2010. Nevin, Jon. "Marfan Syndrome." Journal Of Paramedic Practice 4.7 (2012): 424-426. CINAHL Complete. Web. 23 Nov. 2014. Noronha, Anitha, Victoria. "Marfan Syndrome: A Case Study." Asian Journal Of Nursing Education & Research 4.2 (2014): 203-206. CINAHL Complete. Web. 23 Nov. 2014. Read More