Genetics Synthesis: Marfan Syndrome Essay

Week five I wrote about a sperm bank that lost a deceased man's vials of sperm. Grief, sorrow, and suffering were all feelings felt by Sarah Robertson after the loss of her 29 year-old husband, Aaron Robertson. Aaron had passed away from a rare genetic disorder known as Marfan Syndrome. Sarah mourned the death of her husband, but had somewhat comfort in knowing that six vials of her deceased husbands sperm were safely stored at the Reproductive Fertility Center in Los Angeles. As time went on since Aaron passed, Sarah felt she was ready to put his vials of sperm to use. Devastating news awaited Sarah as she was told that all six vials had been reported missing. Sarah and her in-laws are suing the LA clinic and Dr. Peyman Saadat, the owner.

Marfan syndrome is a connective tissue disorder that is caused by an increase in the production of

Marfan Syndrome, which is named after Antoine Marfan who first described the disorder in 1896, is a genetic disorder that affects the connective tissues found throughout the body. This syndrome can affect many different parts of the body, but the most commonly affected are the heart, blood vessels, bones, joints, respiratory system, nervous system, and eyes. Thankfully, a person’s intelligence is never affected. Marfan syndrome affects people from all races and ethnic backgrounds, and this often makes it hard to detect. It is a pretty rare genetic disorder affecting only about 1 in every 5,000 people.

Marfan syndrome is a genetic mutation of the FBN1 gene which codes for a protein that contributes to the connective tissue in the body and releases certain growth hormones (Callewaert et al., 2007). A mutation in this gene contributes to a variety of signs and symptoms usually involving skeletal deformations like long bone overgrowth, causing elongated limbs and spinal conditions like scoliosis and kyphosis (Callewaert et al., 2007). Retina detachment is common in those with Marfan syndrome and cardiovascular complications may include aortic dilation, dissection and rupture and up two thirds of patients develop mitral valve dysfunction (Callewaert et al., 2007). R.C. has experienced detached retinas,

Marfan syndrome is a primarily an autosomal dominant disorder that affects 1 in 5000 people worldwide. Marfan syndrome is connective tissue disorder that results in a mutation in the Fibrillin 1 gene. The life expectancy of an individual with Marfan syndrome is close to normal with early detection, but Marfan syndrome still remains underestimated due in large part to characteristics similarities that are common in general public. This is compounded by the 25 percent of individuals with a new gene mutation on Fibrillin 1. It is imperative that nurses have a greater understanding of Marfan syndrome in order to facilitate a genetic referral for an early and accurate Marfan syndrome diagnosis. This should include the mechanism of how this

Myopia (nearsightedness) is one of the most common symptoms of the disease. Other symptoms occurring in the eyes include dislocated lens, detached retina, risk of early glaucoma and/or cataracts, and, if not treated, can result in vision loss. Symptoms of the cardiovascular system include a stretched or weakened aorta (aortic dilation or aneurysm) due to defective connective tissue and defects in heart valves. An example of a valve defect is mitral valve prolapse in which one or both cusps of the mitral valve swells or collapses into the left upper atrium when the heart contracts. Cardiovascular symptoms can lead to arrhythmias, congestive heart failure, and chest pain. There are also some effects on lungs, albeit not as common as other symptoms, in which the air sacs can become stretched and lead to an increased risk of lung collapse. The nervous system is also affected as dural ectasia, where the dura that covers the spinal fluid stretches and weakens, eventually leading the bones of the spinal column to wear away. Other symptoms are more obvious and affect the skeletal and connective tissue systems. Those with Marfan syndrome commonly have stretch marks and overgrowth of the

The presence of an FBN1 mutation that is associated with cardiovascular disease will confirm the diagnosis of this condition in the patient.

10/30/15 Medical Evaluation reported neck, low back, and left sacroiliac pain. Physical examination of the lumbar spine revealed decreased ROM on

In regular, healthy people the filament discharge growth factors at the right time, but individuals who have Marfan syndrome are ending up having the discharge happen too soon. This early release of growth factors gives the person's abnormal lengthy limbs. This gene does not discriminate on age, ethnic group, or gender; anyone can be affected. 1 in every 5,000 people in the United States are diagnosed with Marfan syndrome (NIH, 2010). Strangely, it is uncommon in other countries. One parent with the genetic disorder has a 50 percent probability of passing it to his or her offspring (Frey R, Sims J, 2010). Marfan syndrome is largely inherited, although about 30 percent of diagnosed reports have described various mutations of the FBN1 gene in people with no family history of the disorder (Frey R, Lutwick L, 2009). Individuals with this disease can live an average life span if they receive the proper diagnosis and treatment. Early detection and treatment is essential for people with Marfan syndrome because it can cause heart problems which can produce other horrible symptoms. Some patients who even do treatment may die at a young age due to heart problems. The life expectancy of people with Marfan syndrome has increased due to new medications and surgical procedures for the heart (Frey R, Lutwick L,

Examples of organ systems that are affected by Marfan Syndrome would be the Skeletal system, the muscular system, your heart and you blood vessels. It would affect your bone by making you very tall, slender, and loose jointed. You’re Arms, legs, fingers, and toes may be disproportionately long in relation to the rest of the body because Marfan syndrome affects the long bones of the skeleton. A person with Marfan syndrome usually has a long, narrow face, and the roof of the mouth may be arched, causing the teeth to be crowded. It weakens and stretches your muscles and begins to place weight on the vertebrae in the lower spine.

Healthcare teams often work together to augment the oral health of patients prior to cardiac surgery. This is commonly referred to as dental clearance prior to cardiac surgeries in this essay; I will focus on the rationale behind dental clearance for patients undergoing cardiac valve replacement. Dental clearance is the process when the patients who are referred from the cardiac surgery division, are assessed by the dental team for dental and oral concerns. And based on the finding the dentist might recommend a treatment plan before clearing the patient. These might include but not limited to, tooth extractions, dental hygiene, periodontal evaluation, fillings and oral surgery procedures.

Infective endocarditis is an infection of microorganisms, whether it be bacterial or viral, which form colonies within the endothelial lining of the heart tissue. This initiates an immune response that causes the infected sites to grow. Figure 1 8 shows vegetations on the aortic valve which prevent it from functioning properly. Without the ability to fully seal during diastole, blood is pulled back through the aortic valve from the aorta. This disrupts the pressure in the left ventricle in such a way that creates unnecessary stress on the muscle. Infective endocarditis that is present on the right side of the heart (including the aortic valve) is of highest incidence within the population of recreational intravenous drug users at 46% - 78% of reported cases. 9 The risk of infective endocarditis causing vegetation on and around the aortic valve increases after valve replacement surgery. A study done in Australia observed 2443 aortic valve replacement surgeries, taking into consideration their pre-and-post-operation condition. Of said patients, 3.7% developed infective endocarditis. All valve prostheses were either of allograft (human), xenograft (porcine, bovine, or equine), or mechanical design (composite synthetics), the xenograft being the most popular.

Stretch marks are at the beginning of a bright purple and later white scars on the skin - resulting from the rapid stretching of the skin. They can occur in pregnancy or during very rapid changes in body weight. Although completely harmless, it's not pleasant to have them as substantially impairs the appearance of the skin. Their presence generally discourages and reduces the degree of enjoyment on the beach and during other activities when it is quite normal to discover his body.

The event that took place in my life was being diagnosed with Marfan Syndrome. Since I have been diagnosed I have felt so out of place until I came into touch the the Lord. Having Marfan was always hard to deal with because no one would ever accept me and I could not go out and get just any job due to my health problems. I believe Colorado Christian University will be the best for me because they will help me strengthen my Christian relationship. One other experience was growing up poor and having to struggle throughout my entire life. I believe getting an education will help me have a career I love. I will put all my time into my work at CCU. I strongly believe CCU will help me gain confidence in my ability to go out and become my own person,

Several chronic maternal medical conditions, including diabetes mellitus, hypertension, connective tissue disorders, and congenital heart disease confer an increased risk of CHD in the offspring. (3)