Taking a Look at Marfan Syndrome

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

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

It is an autoimmune condition. It is also inherited and also can be associated with medical conditions.

Marfan syndrome is a genetic disorder that affects the body’s connective tissue that holds all of the body’s cells, organs and tissue together. Connective tissue plays an important role in helping the body grow and develop properly throughout a lifetime. Marfan syndrome primarily affects the proteins in the connective tissue all over the body. The primary protein that plays a role in Marfan syndrome is called fibrillin-1. A defect in the gene causes poor binding of fibrillin-1 to other proteins in the body, most commonly the protein named Transforming Growth Factor Beta, or TGF-β. The excess TGF-β protein accumulates in the lungs, heart, heart valves, and aorta. Once the structure of these organs are affected, their functioning

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.

“Abnormal enlargement of the aortic root of the heart, dislocated lenses of the eyes, and a tall lanky body with increased joint mobility, scoliosis, long flat feet, and long fingers…” are some common finding in individuals with Marfan syndrome. (Stanford, 2017) These symptoms can develop at different points in the life span of those affected, and over time the features can worsen and have a negative effect on the body. “This makes it very important for people with Marfan syndrome and related disorders to receive accurate, early diagnosis and treatment.” (Marfan Foundation, 2014) Without the proper diagnosis, the disorder can have potentially life-threatening complications; therefore, the earlier the diagnosis the

Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly. About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. There is no cure for Marfan syndrome. To develop one, scientists may have to identify and change the specific gene responsible for the disorder before birth and medical research has not yet evolved to the point of cure. People

Research has shown that aortic dilatation typically occurs at about 0.2 cm/ year in patients with Marfan syndrome (Kornbluth, Schnittger, Eyngorina, Gasner, & Liang, 1999).

Every person’s experience with Marfan syndrome is differently. Person with this disorder has every feature or different combinations of features. Some features of Marfan syndrome are easily visible. These include long limb size, tall and thin body type, curved spine chest sinks in or sticks out, flexible joints, Flat feet, Crowded teeth, Stretch marks on the skin that are not related to weight gain or loss. In addition to that some most common but not visible are heart problems, especially those related to

I enjoyed reading your post on Marfan syndrome (MFS). I concur with your diagnosis of Marfan syndrome for the 15-year old male in case study #4. According to Timble, and Saal (2013); Yip and Sawatzky (2014), Marfan syndrome is a genetic autosomal dominant ailment and multi-organ syndrome of the connective tissue with widespread clinical variations, that distress about 1 in 5000 individuals. Marfan syndrome principal characteristics comprise that of musculoskeletal, cardiovascular and ocular systems and related to its extensive gradation of variation, arrays of the clinical characteristic could exhibit at natal, or evident subsequent in childhood and at maturity (Timble & Saal, 2013).

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,

In life, every living organism has billions of cells, that contain genetic material which makes the organism what we are. In every cell, there is a nucleus that controls the DNA in one’s body, creating the person they are; from hair color, sex, eye color, skin tone, etc.. In many cases the DNA and the nucleus are mutation and error free creating a normal human being with no genetic disorders. On the contrary, in other case there are mutations and errors in the DNA and nucleus creating many genetic disorders; for example marfan syndrome. Marfan syndrome is a hereditary disorder, from a mutation, resulting in uncommon long and thin body parts, and also optical and cardiovascular defects.

The disorder Marfan Syndrome was discovered in 1896. It was discovered by the French doctor Antoine Marfan. Some of the more serious symptoms are collapsed lungs, scoliosis, intense back pain, and heart complications. Some heart complications that can arise from the disorder are having a mitral valve prolapse and heart murmurs. Some of the ways Marfan Syndrome affects you physically are having a bulging or sunken chest, a tall or slender build, abnormally long limbs, double jointedness, stretch marks, and teeth crowding. It can also cause small pupils, blurred vision, nearsightedness, fatigue, flat feet, and high blood pressure.