Marfan Syndrome Case

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,

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.

This is most often done with a small blood sample which is used to prepare DNA. If the person does not have the disease, the DNA they got from the blood test can be used to determine if the person carries the mutation for the genetic disorder.Considering the high carrier frequency, carrier testing is requested by siblings of patients or of parents of SMA children and are aimed at gaining information that may help with reproductive planning (D'Amico,2011). It is also recommended to have carrier testing done if a family that has a child with SMA is planning on having another child. DNA or genetic testing can also be used to determine if your unborn baby has inherited a genetic disorder, this called prenatal genetic testing. Having a genetic test done will be able to tell if the parents, the child or other children have or carry the mutation for SMA.Unfortunately, there is no cure for SMA. Treatment depends on age and how bad the symptoms are. The goal of treatment is to relieve specific symptoms, maintain function and enhance a child's mobility for as long as possible, and maximize the child's independence and quality of life (Izenberg, 2016).Children with SMA have care all of their lives from many different types of doctors. Counseling and support groups help the children and parents understand and deal with what has happened. Many children need some type of breath support as well. Though there is no cure at the moment, there is so much research going on to figure out how to stop this horrible

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

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

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. However, a range of treatment options can minimize and sometimes prevent complications. The appropriate specialists will develop an individualized treatment program; the approach the doctor’s use depends on which systems have been affected.

Since connective tissue forms throughout the body, the heart, eyes and back are primarily examined in coordination with a studying of a patient’s genetic/family history. Also, as highlighted by The Marfan Foundation, in the absence of family history, patients are tested through a series of Ghent Critera, which examine aortic root dilatation, ectopia lentis, and the existence of an FBN-1 mutation to score the expression of Marfan’s in a patient. Genetic tests essentially confirm or deny the presence of the syndrome of those who have a family history of the

Noonan syndrome is an inherited disorder of cell growth affecting both males and females and characterized by distinctive facial features, short stature, heart defects, bleeding problems, chest wall abnormalities, and other signs and symptoms. This paper will explore current statistics of those affected and explanations on how the various body systems are impacted.

The insured is a 37-year old female Senior Banker who had been on maternity leave from her job at Union Bank. On April 7, 2015, she started experiencing and having symptoms of having chest and back pains which exacerbated significantly while she with her husband, while she sat as a passenger one week after she gave birth. The feeling she felt was a sudden, constant chest pain that seemed to be “ripping” or “tearing” as she estimated the pain level to be at a ten. Her symptoms gradually got worse where upon her husband, Mr. Carlos Salazar drove her to the Kaiser Permanente Los Angeles Medical Center, located in Los Angeles, CA, where she was admitted to the Cardiac ICU where she received blood tests and CT scans. She said Kaiser's Cardiac Team diagnosed her with Type an Aortic Dissection in Marfan Syndrome after her doctors based her diagnosis on it being genetically detected. Afterward, she was medically discharged from the hospital on April 15, 2015.

Currently, there is no cure for the syndrome. On the other hand, 8 some treatments can prevent complications, especially when they started early. As we said, Marfan syndrome affects parts of the body, including: bones and joints, eyes, and several systems of the body. The type of treatment depends on the signs and symptoms. Treatment often includes the use of beta blockers, medicine that help the heart to beat slowly with less force. However, some people have downside effects from beta blockers, such as tiredness or nausea. Another treatment, is surgery. Surgery might be helpful in many cases, for instance,8 if someone has scoliosis (curved spine) doctors may suggest a brace to prevent the condition from getting worse. Otherwise, it requires a serious surgery. Some of eye symptoms like: dislocated lens, nearsightedness and others. Glasses or contact lenses help these problems.

Marfan syndrome is a very common inherited disorder of connective tissue. It is an autosomal dominant condition occurring one in every 10,000 to 20,000 people . There is a wide variaty in clinical symptoms in Marfan syndrome with the most occur in eye, Bones, connective tissue and cardiovascular systems.