Preview

Marfan Syndrome Essay

Good Essays
Open Document
Open Document
519 Words
Grammar
Grammar
Plagiarism
Plagiarism
Writing
Writing
Score
Score
Marfan Syndrome Essay
Marfan syndrome is a multisystem disorder resulting with clinical manifestations typically involving the skeletal, ocular, and cardiovascular systems. Skeletal abnormalities of Marfan syndrome include disproportionate overgrowth of the long bones, anterior chest deformity due to overgrowth of the ribs, and overgrowth of the fingers. A reduced upper-segment to lower-segment ratio to arm span to height ratio of greater than 1.05 due to the overgrowth of the arms and leg is also a major criterion for Marfan syndrome (Judge& Dietz, 2005). A major criterion for clinical manifestations in the ocular system is ectopia lentis (dislocation of the ocular lens). Although this condition is not unique to Marfan syndrome, ectopia lentis have been reported to be present in around 60% of patients with the disorder. Therefore, individuals with Marfan syndrome maybe at risk of retinal detachment and are predisposed for early cataracts or glaucoma. (Judge& Dietz, 2005). According to Otto (2013) typical clinical manifestations in the cardiovascular system include dilation, aneurysm formation and rupture of the peripheral arteries, multivalvular prolapse (especially mitral valve prolapse), and …show more content…
According to Keane and Pyeritz (2008), the prevalence of mitral valve prolapse associated with Marfan syndrome is far higher than that of isolated mitral valve prolapse found the general public. The mitral valve leaflets typically appear diffusely thickened and buckling behind the mitral annulus. As a result, mitral regurgitation is not uncommon to appear. However, mitral regurgitation may not be visualized in occasions where there is predominant aortic regurgitation, which causes a volume overload and dilation of the left ventricle, reducing the anatomic appearance of mitral valve prolapse and presence of mitral regurgitation (Armstrong & Ryan,
Continue Reading
View Writing Issues

You May Also Find These Documents Helpful

  • Good Essays

    Mrcp2
    • 481 Words
    • 2 Pages

    Mrcp2

    The catheter data are characteristic of aortic incompetence: there is a wide pulse pressure in the aorta accompanied by a very high left ventricular end-diastolic pressure (LVEDP); a LVEDP greater than 20 mmHg is suggestive of irreversible LV dysfunction. All of the conditions listed are associated with aortic regurgitation. However, the clinical description best fits with Marfan's syndrome. Marfan's syndrome is a connective tissue disease inherited in an autosomal dominant manner. Clinical features include:…

    • 481 Words
    • 2 Pages
    Good Essays
    Read More
  • Good Essays

    Julia Steel Case
    • 727 Words
    • 3 Pages

    Julia Steel Case

    Steel's test results, I had reached a diagnosis as to what is likely to be her condition. According to the signs, symptoms, and test results in addition to the family history provided, Mrs. Steel portrays strong indications for having aortic valve stenosis. Generally, the occurrence of valvular stenosis is a result of the flaps stiffening or thickening; therefore, preventing the heart valve from fully opening, which, as a result, reduces the rate of blood flowing through the valve. In this case, stenosis of the aortic valve affects the outflow, diminishing the amount of blood reaching the rest of the body vessels as well as the heart itself. In Mrs. Steel's situation, she may have acquired the disease genetically in addition to having been a smoker for multiple years and taking medication that promotes valvular heart disease. Overall, etiology of aortic valve stenosis includes—but is not limited to-- the following examples: degeneration due to age, rheumatic fever, smoking, bacterial endocarditis, calcium deposits forming on the valve, damage due to atherosclerosis, damage of the heart muscles due to heart attack, medication or drugs that may promote valvular heart disease, radiation therapy,…

    • 727 Words
    • 3 Pages
    Good Essays
    Read More
  • Good Essays

    Genetic Disorders- Duchenne Muscular Dystrophy Essay Example
    • 662 Words
    • 3 Pages

    Genetic Disorders- Duchenne Muscular Dystrophy Essay Example

    Duchenne muscular dystrophy is a genetic disorder that causes 1 out of 3500 males' voluntary muscles that control their body's movement to progressively weaken and waste due to a lack of dystrophin. Dystrophyn is an important muscle protein which is produced in a gene in the X chromosome. Hence, it is a sex linked disorder that affects only boys. The boy, if he inherits the disorder, looses muscle throughout his life. Symptoms include; tightening of muscles, difficulty in walking/running and calves may be large and firm. If inherited, the boy will not survive as the condition will make him become disabled due to his voluntary muscles progressively weakening and wasting.…

    • 662 Words
    • 3 Pages
    Good Essays
    Read More
  • Better Essays

    Aortic Surgeon Research Paper
    • 1562 Words
    • 7 Pages

    Aortic Surgeon Research Paper

    There are two types of aortic valve diseases: regurgitation and stenosis. Aortic regurgitation is a condition in which blood flows backward from a weak or widened aortic valve into the heart’s left ventricle. Aortic Stenosis is a narrowing or blockage of the aortic valve. This happens with the valve leaflets become coated with deposits. Since this is makes the aortic valve smaller, the left ventricle has to work harder in order to get the same amount of blood through the small opening, over time, this extra work can weaken the heart. There are three mitral valve diseases: mitral valve prolapse, mitral regurgitation, and mitral stenosis. Mitral valve prolapse disease is where one or both of the valve flaps (cusps or leaflets) are enlarged and the flaps’ supporting muscles are too long; instead of closing evenly, the one or both of the flaps collapse or bulge into the left atrium. Mitral regurgitation is caused by earlier conditions that have weakened the heart, such as if a person has had a heart attack or had rheumatic fever as a child. Mitral stenosis is a narrowing or blockage of the mitral valve, the narrowed valve causes blood to back-up into the heart’s upper-left chamber instead of flowing into the lower-left chamber. Atrial septal defect, also known as ASD, is a “hole” in the wall that separates the top two chambers of the heart. Ventricular septal defect (VSD), is the opposite of ASD, it is a hole in the wall separating the two lower chambers of the heart. Tetralogy of fallot is a combination of four different problems: a hold between the lower chambers of the heart, the muscle surrounding the lower right chamber becomes overly thickened, an obstruction from the heart to the lungs, and when the aorta is over the hole in the lower chambers. These are a few of the heart conditions that a cardiothoracic surgeon…

    • 1562 Words
    • 7 Pages
    Better Essays
    Read More
  • Good Essays

    Duchenne Muscular Dystrophy Essay Example
    • 1160 Words
    • 5 Pages

    Duchenne Muscular Dystrophy Essay Example

    Imagine being a parent and discovering that your child won’t be able to walk by the age of 12 and won't live past the age of 25. (http://dystrophy.com/muscular-dystrophy/Types+of+Muscular+Dystrophies) This has become a reality for many parents as they find out that their child has a form of muscular dystrophy. This particular type of muscular dystrophy is referred to as Duchenne Muscular Dystrophy, which is a genetically inherited disorder that is the most common and severe of all muscular dystrophies. It is found in 1 of every 3,500 males and is characterized by progressive muscle wasting. It is caused by the lack of dystrophin, which is a protein found in the cell membrane of muscles. (http://www.answers.com/topic/duchenne-muscular-dystrophy?cat=health)…

    • 1160 Words
    • 5 Pages
    Good Essays
    Read More
  • Good Essays

    Lou Gehrigs Disease Essay Example
    • 631 Words
    • 3 Pages

    Lou Gehrigs Disease Essay Example

    Lou Gehrig’s disease, or otherwise known as Amyotrophic lateral sclerosis (ALS), is a neurodegenerative disease that affects nerve cells in the brain and spinal cord. The motor neurons navigate from the brain to the spinal cord, and then move onto the muscles through out the body. Lou Gehrig’s disease is a fatal disease with no cure.…

    • 631 Words
    • 3 Pages
    Good Essays
    Read More
  • Good Essays

    Duchenne Muscular Dystrophy Essay
    • 1141 Words
    • 5 Pages

    Duchenne Muscular Dystrophy Essay

    Duchenne Muscular Dystrophy is a dangerous and rare disorder. It’s transferred through family generations because it’s a genetic disease. In addition, Duchenne Muscular Dystrophy is referred to by other names including DMD, Duchenne Syndrome, and Pseudohypertrophy. DMD is when the body cannot make dystrophin so it results in muscle weakness.…

    • 1141 Words
    • 5 Pages
    Good Essays
    Read More
  • Satisfactory Essays

    Essay On Duchenne Muscular Dystrophy
    • 315 Words
    • 2 Pages

    Essay On Duchenne Muscular Dystrophy

    Duchenne muscular dystrophy is a genetically inherited disease that causes progressive muscle and bones weakness. The symptoms usually appear before age 6 and may appear as early as infancy. Symptoms can be noticed very early like not sitting and standing independently at the correct age. The age for walking for boys with Duchenne muscular dystrophy is around 18 months. There is progressive muscle weakness of the legs and pelvic muscles, which is caused by a loss of muscle mass. This muscle weakness can cause difficulty climbing stairs. Most Symptoms appear in boys ages 1-6. Because of muscle damage kids Might need braces by the age of 10 and by age of 12 be in be wheelchair. The amount of people using wheelchairs because of duchenne muscular dystrophy is around, 29% of males 5 through 9 years of age, 82% of males 10 through 14 years of age and more than 90% of males 15 through 24 years of age.…

    • 315 Words
    • 2 Pages
    Satisfactory Essays
    Read More
  • Good Essays

    The name of my disease is Marfan Syndrome. It is
    • 306 Words
    • 1 Page

    The name of my disease is Marfan Syndrome. It is

    The name of my disease is Marfan Syndrome. It is also known as Marfan's. Antoine Marfan discovered it in 1896. It's found in both genders, and all ethnic groups. Marfan syndrome is an Autosomal Dominant disorder. 75% of all cases are inherited, 25% are caused by a mutation on the 15th chromosome. Features of Marfan's include unproportional limbs, victims are usually very tall, severe nearsightedness(caused by lens dislocation) lungs have more elasticity, which can result in spontaneous collapsed lungs(pneumothorax), flat feet, high roof of mouth, and others. Victims cannot put much strain on their heart, so they can't persorm many physical activities. They undergo many tests for teh rest of their lives. Marfan's can be described as connective tissue disorder affecting the heart, eyes, lungs, and skeletal muscles. Externally, Marfan's appears to make people natural atheletes, making them very tall, with long arms and legs. Interanlly, it causes fatal heart problems, severe nearsightedness, very flexible joints, and could cause spontaneous pneumothorax. Problems associated with Marfan's are mitral valve prolapse, aortic root dilation, and glaucoma, along with others. Marfan's is very physically limiting for a victim with cardiac symptoms, if too much strain is put on the heart, it could burst. Treatment is possible for Marfan's. A sufferer could be put on beta blockers to slow aortic root dilation or a surgery could replace a weak aorta with a strong one. External symptoms, however, cannot be treated. There is no cure, or therapy, for the disorder. Marfan's can be detected before teh symptoms appear by a DNA sample. It can also be detected prenatally by amniocenteses. There are no carriers of the disease, only victims. Nothing can be done to stop te disease. It is important to continue research because it is a fatal disease, and it lowers the life expectancy of a victim over 30…

    • 306 Words
    • 1 Page
    Good Essays
    Read More
  • Good Essays

    Congenital Heart Defects in Children
    • 560 Words
    • 3 Pages

    Congenital Heart Defects in Children

    The most common form of congenital defect is Ventricular Septal Defect or VSD. A VSD is an opening of the septum that separates the left and right side of the heart, or commonly known as a hole in the heart. This is found between the ventricles. The severity of the symptoms vary based on the size of the hole. Smaller defects often don’t present any symptoms, where patients with larger defects will often have a distinct heart murmur. The Atrial Septal Defect, or ASD, is a defect or hole in the wall between the atria, which is the two upper chambers of the heart. Children that suffer from atrial defects typically don’t show any symptoms. These defects generally do not require any intervention and close on their own over time. Two other types of defects are the Pulmonary and Aortic Stenosis’s . A Pulmonary Stenosis is the narrowing of the heart valve that normally allows blood flow from the heart to the lungs. The Aortic Stenosis is the narrowing of the heart valve that lets the blood flow from the heart into the main artery of the body, or aorta, and out to the rest of the body. Both types require the heart to work overtime to provide the necessary blood flow that the body needs.…

    • 560 Words
    • 3 Pages
    Good Essays
    Read More
  • Powerful Essays

    Williams Beuren Syndrome
    • 1153 Words
    • 5 Pages

    Williams Beuren Syndrome

    Individuals with WBS often present with a variety of medical complications. Most prevalent among them are cardiovascular abnormalities, which are observed in upwards of 80% of cases and are the most frequent cause of death among patients. Of these, supravulvar aortic stenosis (SVAS) is most frequent, occurring at a frequency of about 45% (Collins et al. 2010). As with the distinctive facial features present in WBS, this disease has been linked to deletions in the elastin gene (Ewart et al. 1994). Sexual differences in the prevalence and severity of cardiovascular abnormalities in WBS remain controversial. A study of 127 patients with WBS found that males presented with cardiovascular abnormalities at a higher frequency and with a higher severity than females (Sadler et al. 2001). More recently, a study of 270 cases of WBS evaluated at the Children’s Hospital of Philadelphia found no significant difference in severity or distribution between genders (Collins et al. 2010). Notably, in the study by Sadler and colleagues, males presented earlier than females. This may explain the observed gender bias as cardiovascular abnormalities that present earlier tend to be more…

    • 1153 Words
    • 5 Pages
    Powerful Essays
    Read More
  • Satisfactory Essays

    Muscular Dystrophy Essay
    • 446 Words
    • 2 Pages

    Muscular Dystrophy Essay

    Muscular dystrophy (MD) is a group of genetic diseases involving progressive weakness and degeneration of the muscles that control movement. In some forms of MD, the heart muscles and other involuntary muscles, as well as other organs, are affected. There are 9 distinct types of MD.…

    • 446 Words
    • 2 Pages
    Satisfactory Essays
    Read More
  • Good Essays

    Marfan Syndrome Background
    • 583 Words
    • 3 Pages

    Marfan Syndrome Background

    The history and background of marfan disease. Marfan syndrome (MFS) is an inherited connective tissue disorder noteworthy for its worldwide distribution, relatively high prevalence, and clinical variability. This autosomal dominant syndrome has pleiotropic manifestations involving primarily the ocular, cardiovascular, and skeletal systems. Classic marfan syndrome MFS type 1, MFS1 has been considered a condition caused by the deficiency of a structural extracellular matrix protein, fibrillin-1; however, studies of Marfan mouse models and Marfan-related conditions have expanded our current understanding to a pathogenic model that involves dysregulation of cytokine-transforming growth factor beta TGFβ signaling. [1, 2] . Patients who have clinical…

    • 583 Words
    • 3 Pages
    Good Essays
    Read More
  • Good Essays

    Marfan Syndrome Research Paper
    • 703 Words
    • 3 Pages

    Marfan Syndrome Research Paper

    Features of the disorder are not always present right away. Marfan features at birth or as young children can include 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.…

    • 703 Words
    • 3 Pages
    Good Essays
    Read More
  • Good Essays

    Write An Essay On Multiple Sclerosis
    • 659 Words
    • 3 Pages

    Write An Essay On Multiple Sclerosis

    A heart break struck my family hard almost three years ago. My brother, Alex, was diagnosed with multiple sclerosis. His own body was fighting him and there was no cure. The doctors gave him two more years of mobility before he would more than likely be bound to crutches or even a wheelchair. When the doctors told him that he should quit the high intensity exercise that has become a part of his personality; Alex stood up and told them no. They advised him that there was a larger chance that working out would accelerate the disease than there was a chance that it would help him but that there was a possibility that it could strengthen his body. This news hit hard but even with the impending mobility loss, my brother returned to the crossfit gym where he worked the next day and got a new personal record for his deadlift. He wasn’t going to let anyone tell him that he couldn’t do something.…

    • 659 Words
    • 3 Pages
    Good Essays
    Read More

Related Topics