Good Research Paper On Marfan Syndrome

Lis Rodriguez

ASA COLLEGE
Abstract
Marfan syndrome is connective tissue disorder. It is caused by a mutation of FBN1 gene that is responsible for encoding Fibrillin-1 protein. The mutation causes the drop of the amount of Fibrillin-1 which consequently affects the connective tissue. Connective tissue loses its strength and support which leads to various defects in different parts of the body. Cardiovascular, skeletal and ocular systems are most often affected. However, further symptoms include tall and slender build, disproportionately long arms, legs, fingers and toes, a breastbone that protrudes outward or dips inward, a high, arched palate and crowded teeth, heart murmurs, extreme nearsightedness, an abnormally curved spine and flat feet (Mayo Clinic, n.d.). Beside these, patients may also experience symptoms like spontaneous pneumothorax, skin abnormalities and hernias. Therapy for Marfin syndrome includes combined meditational and surgical treatments coupled with ocular interventions.
Key Words: Marfan Syndrome, Symptoms
‘’Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.’’ (Mayo Clinic, n.d.).
Marfan syndrome is caused by the FBN1 gene mutations. According to National Organization for Rare Disorders (n.d.), in more than 95 per cent of the cases, this mutation is located on the long arm (q) of chromosome 15 (15q21.1).Marfan syndrome equally affects males and females with no ethnic predisposition. The incidence is approximately 1 in 5,000 people worldwide in general population (National Organization for Rare Disorders, n.d.). New gene mutations occur in 25-30 percent of the cases. The mutated gene is passed on in an autosomal-dominant pattern. FBN1gene is responsible for the creation of Fibrillin-1. Fibrillin-1 is a protein that chains itself to other Fibrillin-1 proteins in order to form threadlike filaments. These filaments are called microfibrils and are located in the extracellular matrix throughout the body. Additionally, they store transforming growth factor (TGF) which is released at various times in order to control the growth and repair tissues and organs throughout the body (National Organization for Rare Disorders).In addition to this, microfibrils form longer connective tissue fibers responsible for providing strength and elasticity. The FBN1 gene mutation lowers the amount of available fibrillin-1. This causes the decrease in microfibrils formation and results in excessive connective tissue growth and its instability. As connective tissue is found in all parts of the body, various organs are affected. However, the condition most often affects cardiovascular, ocular and skeletal systems (Finley, 2013). The expression of Marfan syndrome can become apparent anytime between infancy and adulthood and depending on the onset and severity of signs and symptoms, it can be fatal early in life, but the majority of affected individuals survive into mid- to late adulthood (National Organization for Rare Disorders, n.d.).
Symptoms of Marfan syndrome vary among affected patients. While some individuals express only mild symptoms, others develop serious conditions followed by great complications. The symptoms usually spontaneously exacerbate over the course of years. However, if expressed during infancy, the condition often quickly affects multiple organ systems early in life (National Organization for Rare Disorders, n.d.). According to the Mayo Clinic (n.d.), symptoms of the Marfan syndrome include: (1) Tall and slender build, (2) Disproportionately long arms, legs, fingers and toes, (3) A breastbone that protrudes outward or dips inward, (4) A high, arched palate and crowded teeth, (5) Heart murmurs, (6) Extreme nearsightedness, (7) An abnormally curved spine and (8) Flat feet. Due to the multi-systemic nature of the disease, to establish the diagnosis of Marfan syndrome is like piecing together a puzzle (Radke & Baumgartner, 2014).
Firstly, patients diagnosed with Marfan syndrome usually develop a very distinctive physical appearance. They are usually very tall and develop thin physique with disproportionately long and slender limbs (dolichostenomelia). The disproportional arms and legs are due to the extensive growth of the long bones. The condition affects the fingers as well. They become abnormally long and slender (arachnodactyly). In addition to this, patients might express hypotonia (a lack in muscle tonus), and low percentage of subcutaneous fat (National Organization for Rare Disorders, n.d.).
Secondly, the condition causes various skeletal malformations. The overgrowth of the ribs can push the sternum either inwards (pectus excavatum) or outwards (pectus carinatum). Further, the condition affects joints which become loose and flexible and causes flat feet (pes planus). While in some cases the joints could remain unaffected, in other they become stiff and tight (contractures). Moreover, some patients experience problems with their fingers. The fingers can become permanently bent, fixed and without the ability to fully extend (camptodactyly). The deformations can affect the hip socket. It becomes deep with a deep insertion of the femur bone and with signs of erosion. Spinal abnormalities such as scoliosis are often observed and can be the cause of back pain. Marfan syndrome also affects the head and the face. The cerobro-facial symptoms include dolichocephaly, enophthalmos, micrognathia, retrognathia, malar hypoplasia, gothic-pallet, crowded teeth and malocclusion problems (National Organization for Rare Disorders, n.d.).
Thirdly, Marfan syndrome causes severe cardiovascular problems. The cardiovascular symptoms include prolapse of the mitral valve which causes mitral regurgitation. It can also be associated with persistent chest pain, arrhythmias and congestive heart failure. The other hearth symptoms include aortal aneurisms, aortic dissections and aortic regurgitation. These can lead to life-threatening complications such as rupture of aorta or congestive heart failure. The condition can also cause dilatations of pulmonary arteries with consequent breading problems (National Organization for Rare Disorders, n.d.).
Lastly, the condition affects the ocular system. It causes myopia which can develop early in life and which exacerbates over time. Moreover, ectopia lentis (the displacement of the lenses of the eye) is diagnosed in almost 60 percent of Marfan syndrome cases. It can occur either at birth or develop later in life with the development of a child. Additional eye symptoms include abnormally flat cornea, hypoplastic iris, and detachment of the nerve-rich membrane (retina) lining the back of the eyes. Marfan syndrome patients have a high risk to develop cataracts or glaucoma which could cause the loss of vision is left untreated. (National Organization for Rare Disorders, n.d.).
In addition to these commonly found symptoms, affected individuals might express other, less common symptoms. Patients could develop apical pulmonary blebs which are pockets found close to the top of the lungs. The air pocket might erupt causing the spontaneous pneumothorax which can recur. Other reported symptoms include widening or bulging of the sac (dura) that surrounds the spinal cord (dural ectasia) which can be associated with persistent back pain. It can also be the cause of abnormal sensations or muscle performance in the legs due to the pinching of the nerves (National Organization for Rare Disorders, n.d.). In some cases, the condition affects the skin which develops spontaneous stretch marks known as stria atrophicae. Additionally, affected patients can be prone to developing inguinal, umbilical or surgical hernias.
The treatment of Marfan syndrome is causal and it focuses on preventing various complications. The Mayo Clinic recommends combined (1) medical, (2) ocular and (3) surgical treatment plan.
Medical therapy includes doctor prescribed drugs. These are usually anti-hypertensive drugs given in order to reduce the risk of aortic dissection and rupture. Beside these, medications include beta blockers in order to regulate the hearth rhythm.
The eye related problems are successfully treated by corrective lenses or with ocular surgery. Other symptoms, depending on their severity, might need surgical treatment.
The surgical treatment includes aorta repairs when its diameter is wider than 2 inches, scoliosis treatment, when the spinal curve is too great for custom-made back brace and chest bone corrections, when it affects breading (Mayo Clinic, n.d.).

References:

Mayo Clinic. Marfan syndrome. (n.d.). Retrieved December 30, 2015, from http://www.mayoclinic.org/diseases-conditions/marfan-syndrome/basics/definition/con-20025944
National Organization for Rare Disorders. (n.d.). Marfan syndrome. Retrieved December 30, 2015, from http://ghr.nlm.nih.gov/condition/marfan-syndrome
National Organization for Rare Disorders (n.d.). Marfan Syndrome. Retrieved December 30, 2015, from http://rarediseases.org/rare-diseases/marfan-syndrome/
Finley, K. P. (2013). Marfan syndrome. Magill’S Medical Guide (Online Edition)
Radke, R. M., & Baumgartner, H. (2014). Diagnosis and treatment of Marfan syndrome: an update. Heart (British Cardiac Society), 100(17), 1382-1391. doi:10.1136/heartjnl-2013-304709