Marfan Syndrome Research Paper

Autosomal recessive inheritance is the third type known to cause muscular dystrophy, whereas both parents are carriers of the defective gene. For this reason the offspring have a 25% chance of being affected with both malformed genes, resulting in them being affected. The chance increases with cousin marriages.

Individuals with this disorder further acquire congenital heart defects. It specifically blocks off the natural blood flow from the lungs and right chamber of the heart and/or causes an anomalous gap in the barrier that divides the heart chambers in two. Another symptom of this disorder are the problems involved in the digestive system. People who have this syndrome are

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.

No autosomal dominant disorders do not skip generations; they pass on through each generation. If parents have a child, their child will receive the same autosomal dominant disorders that the parents had. And the opposite, if the parent don’t have any autosomal dominant disorders, then the child won’t have

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,

This disease is genetically inherited and is a dominant characteristic, therefore unfortunately the offspring of a victim has 50% chance of inheriting the disease.

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

“Abnormal enlargement of the aortic root of the heart, dislocated lenses of the eyes, and a tall lanky body with increased joint mobility, scoliosis, long flat feet, and long fingers…” are some common finding in individuals with Marfan syndrome. (Stanford, 2017) These symptoms can develop at different points in the life span of those affected, and over time the features can worsen and have a negative effect on the body. “This makes it very important for people with Marfan syndrome and related disorders to receive accurate, early diagnosis and treatment.” (Marfan Foundation, 2014) Without the proper diagnosis, the disorder can have potentially life-threatening complications; therefore, the earlier the diagnosis the

Affecting as many as one in every 10,000 to 20,000 people (“Donohue”), Marfan syndrome is one of the most common genetic abnormalities. Despite the fact that a cure has not been discovered yet, medical researchers as well as doctors are striving their best to prevent or slow the symptoms of Marfan syndrome and to reduce the complications as well.

Since connective tissues exist throughout the body in many structures, “such as bones, ligaments, muscles, blood vessels, and heart valves” (Genetics Home Reference), there are symptomatically indicative signs of Marfan Syndrome in more than just one specific location. Common signs of

Early diagnosis and advances in medical technology has improved the quality of life for many individuals who have been diagnosed with Marfan syndrome. In addition, the early risk factors (such as aortic dilation)

The main symptom of MFS is the development of aortic aneurysms, most often in the root of the aorta, which in turn can lead to dissections of the aorta often resulting in death. (Franken et al. 2014) An aortic aneurysm is a swelling or bulging of a blood vessel wall and the greater it grow the thinner and weaker the wall becomes. If the wall becomes too weak it can burst or tear allowing blood to rush out which causes the inner and middle layers of the aorta to separate which is known as an aortic

The current treatment is surgery and close watch on the heart. Many patients are waiting for a proper treatment, but that is yet to come. The methods of Diagnosis for Marfan syndrome are different than the current state of the treatment. The current, effective treatment for Marfan’s is called Ghent nosology. Ghent nosology is appropriately described by J.S. Dean from the European Journal of Human Genetics, saying “In the Ghent nosology, clinical features are assessed within the seven body ‘systems’, to determine whether that system provides a major criterion, or only system involvement. A diagnosis of Marfan syndrome requires a major criterion in two systems and involvement of a third” (pg. 726). The most common areas Marfan syndrome affects is the cardiovascular, ocular, skeletal, and respiratory systems. The cardiovascular assessment part of Ghent nosology requires measurement of the aortic diameter and possibly an EKG. The ocular part of Ghent nosology can be found easily if the person has or needs glasses or has had recurrent eye problems. The skeletal test of Ghent nosology is measured through X-rays, MRI’s, and comparisons of normal values based on height and weight. Issues with the respiratory system can also be found through X-Rays and MRI’s. One other way to diagnose Marfan’s is through genetic testing. Genetic testing is the quickest way to diagnosis Marfan’s but not the most accurate, as some

There is no cure for Marfan Syndrome but people with Marfan Syndrome can live long fulfilling lives. Here are many ways that people live day to day with this disease:

The disorder Marfan Syndrome was discovered in 1896. It was discovered by the French doctor Antoine Marfan. Some of the more serious symptoms are collapsed lungs, scoliosis, intense back pain, and heart complications. Some heart complications that can arise from the disorder are having a mitral valve prolapse and heart murmurs. Some of the ways Marfan Syndrome affects you physically are having a bulging or sunken chest, a tall or slender build, abnormally long limbs, double jointedness, stretch marks, and teeth crowding. It can also cause small pupils, blurred vision, nearsightedness, fatigue, flat feet, and high blood pressure.