Marfan Syndrome Case Study

It was established that the patient’s symptoms were due to an aortic regurgitation this was confirmed by echocardiogram. The use of the SOAPIER model is an effective means of providing rationale for a holistic clinical decision making. The findings and treatment options were discussed in a multidisciplinary meeting including Mr Jones and family. The family were informed that surgery was the safest treatment option. Complications that could happen with or without surgery were also explained ensuring that the patient had adequate understanding to make a valid choice about his treatment. Mr Jones agreed that a replacement of the aortic valve with a mechanical valve was necessary, thus it last for more than twenty years or more . Mr Jones

Joey Jones, a 14-year-old African American child who just seems too tall, is referred to genetic clinic. A physical exam revealed the following parameters and features:

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,

Aortic Dissection: She doesn’t experience from this condition because she doesn’t have sever hypertension and absent peripheral pulses. Also, she doesn’t have a wide mediastinum with extension of the aortic wall beyond the calcific border.

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.

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

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.

The main issue is the aorta which is the main artery can increasingly enlarge and lead to a dissection which is when the aorta erupts and that can lead to death. About forty percent of people with marfan syndrome that have an aorta that erupts will die immediately. Even if you have surgery after the aorta dissects there is a ten to twenty percent chance you could die. Most people with this disorder should check that their aorta is not rapidly or increasingly growing. The normal size for an aorta is about an inch, if it gets bigger than 4.7 centimeters, then it would be a good idea to get surgery. Luckily, most people that have to have a non- emergency surgery have a 98% or greater chance of success. There are usually two types of surgery they can do to replace the aorta. The first one is the traditional method which is where they replace the aorta and put in graft and replace the aorta valve with a mechanical valve or the valve sparing method where the replace the aorta with a tube graft and re- implant the original valve. Surgery is very necessary for people with enlarged

Personally I’ve had them all. I get my gene for my disease from my mother’s side. It isn’t a 100% accurate but my mother’s relatives are the only side that has heart issues, such as a reverse heart at berth that needed extensive heart surgery to flip it around. Every person that has aortic valve stenosis can't take medicine to cure the disease. They must have surgery, depending on how bad the back flow of blood is. In conclusion, this is my report on aortic valve

Marfan syndrome is a histological disorder that specifically deals with one of the four primary types of tissue known as connective tissue. Marfan syndrome is also considered an autosomal dominant disease, meaning this disorder requires only one parent or donor to carry the abnormal gene for it to be inherited in the offspring. The inheritance of the abnormal gene is the biological basis or genetic trigger that results in a mutation that occurs in the gene named fibrillin-1, or short FBN1. The respective location of gene FBN1 is on chromosome 15. Function of the FBN1 gene includes storing the blueprints for making the glycoprotein fibrillin-1, which is a component of many tissues. When produced, the fibrillin-1 protein exits the cell via transport

Risk factors for an AAA include: age of 65 years old, smoking, atherosclerosis, male gender, and family history.1,2,3,4 The three most powerful predictors are age, smoking and male gender, and smoking accounts for 78% of the excess prevalence of AAA.2 Gene defects with some of the connective tissue disorders associated with AAA have been identified in chromosome 11 and 15,4 but genetic background paired with environmental factors is a more likely cause of AAA than genetics alone.3 Family members are four times more at risk for an AAA if a parent, adult child, or sibling has had an AAA4 (15-19% in relatives, compared to 1-3% in unrelated cases).3 Additional risk factors that are seen in individuals with an aortic dissection include: hypertension, pre-existing aortic aneurysms, an aortic valve defect, aortic coarctation, certain genetic diseases (Turner’s syndrome, Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome), and inflammation or infection (giant cell arteritis, syphilis, and sexually transmitted

Aortic stenosis—aortic valve stenosis— is caused by a narrowing of the heart’s aortic valve which leads to obstruction of the outflow of the left ventricle. Aortic stenosis is uncommon in patients under the age of 50. The most common cause in adults within industrialized countries is due to aortic valve calcification. Compared to any other cardiac diseases stenosis of the aortic valve is associated with increased morbidity and mortality. Some of the more uncommon causes of this deadly disease include congenital heart disease, rheumatic fever, and radiation. Patients with increased age, increased low density lipoprotein (LDL), increased lipoprotein A, hypertension, and smoking history have a higher risk of developing a stenotic valve. Patients suffering from aortic stenosis often are asymptotic until more of the advanced symptoms develop. At this time, they may present the “classic triad symptoms,” which include (1) angina, (2) syncope, and (3) heart failure. There are also some broad symptoms such as fatigue, dyspnea (usually with exertion), swollen ankles, difficulty exercising, or palpitations. Physical examination provides valuable insight into the diagnosis of aortic stenosis. Findings on physical examination can be confirmed through non-invasive two-dimensional Doppler echocardiogram, which is the gold standard for aortic stenosis. However, other imaging modalities for diagnosis and treatment options of this debilitating disease will be discussed in this

The two most common causes of aortic stenosis severe enough to require surgery are calcification of congenital bicuspid aortic valves and degenerative calcification of tricuspid aortic valves (Roberts WC, Ko JM. ) Aortic valve calcification, scored by computed tomography (CT), can be helpful in diagnosis of severe aortic stenosis in the patient. (Marincheva-Savcheva G, Subramanian S, Qadir S, et al.)

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.

However, cautious medical management can help prolong and make better the prognosis of someone with this genetic condition (Turkington 2004). In order to prevent life threatening symptoms, refraining from physical activity should be considered because it will prevent any stress being put on the aorta. An annual test called, Echocardiogram, should be scheduled because it can monitor the function and size of the aorta and heart (Turkington 2004). Another treatment involving the cardiovascular system is the removal and replacement of the aortic root. This procedure decreases the chances of getting heart disease if you are afflicted with the disorder (Adamec 2005). If problems with the eyes is a symptom developed with Marfan syndrome, eye exams with an ophthalmologist should be periodic and regularly (Turkington