Marfan Syndrome Pros And Cons

Because symptoms are wide - ranged and studies for treatment of FMS did not begin until the 1980's, it is one of the most popularly misdiagnosed conditions in the medical world. The main symptoms are widespread pain and fatigue as well

Apical hypertrophic cardiomyopathy is a disease that mainly affects the apex of the heart and does not cause any obstruction. [1] These abnormalities in the heart muscle can cause a wide variety of symptoms. As the heart becomes stiff it increases the pressure in the left ventricle which can push blood back into the lungs, causing shortness of breath in exercise. Chest pain can occur as there is not enough oxygen available to the cardiac muscle due to insufficient blood supply. Palpitations and lightheadedness, along with other conditions can occur as a result of HCM. In addition to these discomforting symptoms, the patient may develop an arrhythmias that often goes unnoticed. An arrhythmia takes place as the electrical conduction of the heart is disturbed by the abnormal scattering of myocytes. The two most common arrhythmias are atrial fibrillation causing palpitations, and ventricular tachycardia that can be life threatening causing sudden death. Both conditions can be controlled with medication. [4]

The characteristic beginning signs of HF include inadequate tissue perfusion and signs of volume overload. Inadequate blood flow to tissues can be evident by fatigue, shortness of breath, and exercise intolerance. Volume overload is evident by peripheral and pulmonary edema (fluid collection in the limbs and on the lungs) and venous distention (due to blood pooling in circulation from back flow in the heart) (Lehne, 2010).

Cardiofaciocutaneous syndrome is a very rare and serious genetic disorder that generally affects the heart, facial features, and skin of an individual. It is caused by a desultory gene mutation, which takes place in one of four genes. Those genes are known as BRAF, MEK1, MEK2, and KRAS. From research, it is also suspected there is a possibility that other genes are associated with the rare condition. This disorder holds multiple alternative names, a long history, obvious symptoms, extensive amounts of interesting data, and is lucky enough to be supported by numerous organizations that will stop at nothing to help.

The FBN1 gene is responsible for providing instructions for the production of fibrillin-1, which is a protein that is secreted into the matrix of connective tissue (“FBN1,” 2015). Therefore, a mutation in this gene can cause the excessive production of fibrillin-1, and when fibrillin-1 binds to other proteins they form threads called microfibrils. Microfibrils contain a growth factor called transforming growth factor beta or TGF-β (“FBN1,” 2015), so when there is an increase of TGF-β, problems with the connective tissue throughout the body can occur (“What is Marfan Syndrome? | The Marfan Foundation,” n.d.), more of these problems will be elaborated upon further in the report. The genetic mutation in the FBN1 gene is usually hereditary, but it is possible for one to be the first in their family to have this genetic mutation. If one has this mutation

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.

Researchers believe the mutation of this gene causes too much bone to grow instead of muscle.

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,

HF is a complex clinical syndrome with a constant increasing incidence and prevalence in western countries in the 21st century and has been a major cause of morbidity, mortality, hospitalizations and disability. People who develop HF have (or had) another heart condition

Autosomal dominant LGMD occur less often than recessive dominant LGMD. In the metabolism myotilin gene mutations occur, it may be due to a deficiency of vitamin B12, vitamin E, folate or exposures to nitrous oxide. LGMD 1A disease normally occurs from the age 42 to 77, and develops in the same areas (hip, shoulder and back) however, it could spread to the leg muscles. Due to the fact that myotilin gene is mutated, it causes focal myofibrillar destruction to occur, and this results in intracytoplasmic deposits to float around in the blood stream. In one case study done in Barcelona in 2011, there were 13 patients who were all diagnosed with myotilin gene mutation disease. The results showed that the deposits of myofibrillar became immune to myotilin and cluster up the vacuoles and interfere with the Z-lines. Overall the study revealed that each patient shared the same phenotypic characteristics, LGMD 1A and myofibrillar myopathy variations which emphasizes that LGMD is a developing neuromuscular disorder (Montse,

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

Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information that leads to the gradual weakening of the muscle cells. Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.

Marfan syndrome is a genetic illness with significant morbidity and death (1). Prevalence appears to be similar across the world, regardless of gender, and the estimate in the European countries is 1 in 10,000 (2). The average expectancy used to be 32 years, but improved surgery increase life expectancy to approach that of the entire population (3). The level to which individuals are affected differs and those with the syndrome tend to be tall, thin and with long legs, arms, fingers as well as toes (4). It is important to discuss the symptoms, pathogenesis, diagnosis, and management of the syndrome.

In conclusion the PMD is a rare, monogenic, pediatric leukodystrophy disorder. It is categorized into three forms depending on abnormality expression of the PLP1 gene affecting the myelin sheaths. Much therapeutics research is based on stem cells. Yet there is one clinical trails neural stem cell phase 1.