Marfan Syndrome Prognosis

about half of the patients survive thirty years or more from onset. (Joy JE, Johnston RB, 2001)

One in every 5,000 new borns can inherit this disease that is characterized by harelip, cleft palate, severe defects to of the eyes, brain and circulatory system. Some affected newborns will die within a year.

What do Michael Phelps, Abraham Lincoln, Osama Bin Laden all have in common? They are all diagnosed with Marfan Syndrome which is a disorder of the connective tissues in the body. It is estimated that about 1 in every 3000-5000 people in the world is diagnosed with this disorder (Frey, 2005), that means about 140 000 000 to 233 333 333 people around the world’s population live with the struggles brought by Marfan syndrome. It may not seem like a big deal since so little of the world is diagnosed, but Marfan syndrome can cause some serious life-threatening symptoms. This report will explore the ins and outs of Marfan syndrome, from what it actually is to diagnostic and treatment techniques.

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,

According to the WHO, cardiovascular diseases have been the leading cause of death globally claiming 17 million lives a year, more deaths than all cancer combined (Chiu and Radisic, 2013). Cardiovascular disease is responsible for a preponderance of health problems and its impact is expected to grow further as the population ages. In the UK, NHS spends about £7.74 billion as the expenditure to deal with cardiovascular diseases (Barton et al., 2011). Cardiovascular disease in the form of myocardial infarction has become the principle cause of death in developed countries, accounting for nearly 40% of all deaths (http://www.bhf.org.uk/). Congenital heart defects, which occur in nearly 14 of every 1000 new-born children, is another tragic fact that baffles medical industry (http://www.heart.org/). About 61 million Americans (almost one-fourth of the population) live with cardiovascular diseases, such as coronary heart disease, congenital cardiovascular defects, and congestive heart failure.

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

Cystic Fibrosis was not recognized as a separate disease until 1938. Before 1938, only about 12% of infants and children who have Cystic Fibrosis lived into adulthood. Today, due to advances in medicine, 75% of children survive into adulthood, even reaching the age of 40 (Marcovitch, 2010).

“Treatment of the symptoms and complications that occur with Noonan syndrome depends on their type and severity. Many of the health and physical issues associated with this syndrome are treated just the way they are in the general population” (Mayo Clinic). The prognosis for Noonan syndrome generally depends on individuals such as K.J. Jr., on their severity of the heart defect, which may shorten their lifespan if it is too extreme.

According to the American Lung Association, “Cystic fibrosis is the second most life shortening, inherited disorder occurring in childhood in the United States.” The first is sickle cell anemia. The following data was collected by the Cystic Fibrosis Foundation. It is estimated that 30,000 Americans, 3,000 Canadians and 20,000 Europeans have cystic fibrosis. Also that 1 in every 20 Americans are carriers for this defective gene and are unaffected. This means you must receive the defective gene from both of your parents to have cystic fibrosis. Roughly 1 in every 3,700 children that are born here in the United States have this genetic disorder. It occurs equally in both males and females and it is most commonly seen in Caucasians who are of a Northern European descent and least commonly seen in Asian Americans. Up till the 1950’s most individuals with this disease did not live to go to elementary school, but today the average life span of cystic fibrosis patients is around thirty-nine years.

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,

The symptoms from this disorder are weakness, trouble breathing, & usually for children death after two years. Most children died after two years after having type 1 SMA.

These may be abnormalities of the chest, wobbly joints, unusual small neck, and bumpy-knees. Children that have this disease tend to carry a typical facial look that might contain a large head, wide mouth, bulging cheekbones, an abnormally petite nose, extensively spaced coated teeth, and extensively separated eyes with delicate corneal blurring and the liver and spleen might be a bit enlarged. Kids with Morquio syndrome display growth retardation from a very young age. The wrists, elbows, knees, hips and other big joints are unusually elastic, affecting total instability. The malformation of the chest causes a tension on the lungs and heart, which may cause respiratory

People with Marfan syndrome are born with it, but features of the disorder are not always present right away. Some people have a lot of Marfan features at birth or as young children – including serious conditions like aortic enlargement. Others have fewer features when they are young and don’t develop aortic enlargement or other signs of Marfan syndrome until they are adults. Some features of Marfan syndrome, like those affecting the heart and blood vessels, bones or joints, can get worse over time. This makes it very important for people with Marfan syndrome and related disorders to receive accurate, early diagnosis and treatment. Without it, they can be at risk for potentially life-threatening complications. The earlier some treatments are started, the better the outcomes are likely to be.

For infants suffering from the lethal neonatal form of the condition, most could not survive their first year. For those sufferring from the serious infantile hepatocardiomuscular form, they are more prone to developing fatal heart issues and having a shortened lifespan with varies medical concerns. For those with the myopathic form of the condition, they mostly have a normal lifespan despite occasional problems with their muscles. The aforementioned form is typically within good control and would enable the affected individuals to lead a life of good