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

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,

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

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:

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

and conditions and how it is treated. Articles from Cardiology in the Young (2014) give research

Along with most things, a person can be born with an abnormal heart. One defect is called Shone’s Complex (syndrome, disorder, anomaly). Shone’s is a rare congenital heart disease affecting the left side of the heart. The disease consists of four defects; coarctation (narrowing) of the aorta, “parachute” mitral valve, supravalvular mitral membrane (SVMM), and valvular/subvalvular aortic stenosis. Coarctation of the aorta prevents blood flow to the body via the left ventricle. When two leaflets

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.

Malpositioned simply means that the aorta opens inside the heart in the wrong place. In a normal, healthy heart, the aorta is connected to the left ventricle, allowing oxygen rich blood to be pumped throughout the body. In patients suffering from tetralogy of Fallot, the aorta is slightly shifted to the right. This slight shift places the artery directly over the ventricular septum defect, which is typically located at the tip of the ventricles. As previously stated, the VSD allows oxygen rich and oxygen poor blood to mix together. With the aorta being directly over the VSD, this allows the mixture of blood to be pumped through the rest of the body, again contributing to the cyanotic presentation of the

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

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