A genetic disorder is a genetic condition, originally caused by a DNA abnormality. Genetic disorders can be inherited or can form early, in the development of child’s womb. Marfan syndrome is a genetic disorder that affects the body’s connective tissues in many parts of the human body. These specific connective tissues are made with the help of fibrillin, to produce elastic fibers, which are essential for connective tissues. The connective tissues are the tissues that provide strength and flexibility to many structures such as the bones, blood vessels, ligaments, muscles, and heart vessels. Connective tissues also allow the body to grow and develop properly. Marfan syndrome occurs when there is a mutation in the gene, specifically what tells …show more content…
One of the complications involve the connective tissues. Poor connective tissues can weaken the aorta, causing a lack of supply of blood to the body. This could lead on to numerous complications. The main body parts affected involve the cardiovascular system which is the blood vessels and heart. An aortic aneurysm may occur, where the blood pressure of blood leaving the heart to cause the wall of the aorta to bulge out. “In cases involving Marfan syndrome, this is most likely to happen at the aortic root, where the artery leaves your heart” (5). An aortic dissection may occur when a small tear occurs in the innermost layer of the aortic wall, which allows blood to squeeze in between the inner and outer layers of the wall. This complication may cause pain in chest or back. This complication may also weaken the vessel’s structure and result in a rupture. Individuals with Marfan syndrome may have difficulties with their heart valves. As the difficulties progress, the heart works harder to work. As this progresses, the end result may be heart failure. Females who are pregnant and have Marfan syndrome are at great risk too. The disorder weakens the walls of the aorta, ultimately weakening the aorta. As a result of pregnancy, women are producing more blood than usual, and this can put additional stress to the aorta which can end in a rupture and it ends result too can be heart …show more content…
It can, however, be treated. Doctor appointments, and medicine help with all the complications caused by Marfan syndrome. Doctors needed to assist patients with Marfan syndrome are a geneticist, cardiologist, ophthalmologist, orthopedist and a cardiothoracic surgeon. Beta blockers help reduce the speed of your heart to relieve stress on your aorta. A brace can help with the skeletal complications to improve the bone structure from getting worse. For eye complications, the simple use of glasses or contacts improve these complications. If bad comes to worst, then the final result may be surgery to repair any of the complications resulted from Marfan syndrome. The number one things to not do when you have been diagnosed with Marfan syndrome is to not smoke, don’t do the activities your doctors have told you not to do, and to not stress too much. Activities include weight lifting, bowling, contact sports, and etc. With the correct treatment, diagnosis, and care, individuals can live a long and happy life with Marfan
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.
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
There are many known genetic diseases in the world. There are different types such as chromosomal and monogenic. Chromosomal disorders are when someone has too many or not as many chromosome as they are suppose to have (46 total chromosomes). Chromosomal disorders can also manifest when there are structural abnormalities. Monogenic disorders are an inherited medical condition caused by a DNA abnormalities. These diseases occur all throughout the world today. Depending on what region of the world you are in depends on what the most common ones are. Cystic Fibrosis has become the most common lethal genetic disease in the United States as of 1999. Although there are treatments available, there is not a known cure, and the effects remain burdensome
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:
A genetic disorder is an a disease or condition caused by one or more abnormalities in the genome. Genetic disorders are an inherited medical condition, which are caused by a DNA abnormality. “Noonan Syndrome is a genetic disorder, it prevents normal development in different parts of the body (Mayo, 2016).” There are several different abnormalities caused by Noonan Syndrome that can affect people. Noonan Syndrome is a genetic disorder which a means it can be passed through parents to their children.
Many people are affected by genetic disorders every day. Abnormalities in one’s DNA are what cause a genetic disorder. These disorders could be as little as a mutation in a single gene. In another case, they could be as severe as having an extra chromosome, or taking away a chromosome.
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
There are many things that can cause a disease. Marfan syndrome is caused by a mutation in the fibrillin-1 gene. The gene produces a protein that is essential for formatting the elastic fibers found in connective tissue. About 75 percent of people with Marfan syndrome inherit the mutation from one affected parent. A parent who has
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
“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
A genetic disorder, such as DiGeorge syndrome, is an illness caused by one or more abnormalities, which can be passed down through parents, DNA, or mutations. DiGeorge syndrome (DGS) is a rare type of a genetic disorder which is caused by the deletion of chromosome 22. DiGeorge syndrome affects many parts of the body and has a prevalence of 1: 4000