Marfan Syndrome Essay

explanatory Essay
990 words
990 words

Marfan syndrome (MFS) is known as an autosomal dominant hereditary disorder of connective tissue. Connective tissue helps support all parts of the body. It also helps control how the body grows and develops. Principal manifestations involve the ocular, skeletal, and cardiovascular systems. MFS is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1) which is located on chromosome 15(Marcheix, 2008). There are many mutations that can cause Marfan Syndrome, but most common are missense in that they are single-nucleotide changes that result in the substitution of a single letter that leads to a single amino acid change in the protein. The change in the amino acid alters the shape of the fibrillin proteins. The irregularly-shaped protein then assembles into irregularly shaped microfibrils. Fibrillin is a major element of microfibrils, which store a protein called transforming growth factor beta (TGF-β), a critical growth factor. TGF-β helps control the proliferation of cells, cell differentiation, cell movement, and apoptosis. Microfibrils help regulate the availability of TGF-β, which is deactivated when stored in microfibrils and activated when released. The increase in TGF-β and abnormalities involving microfibrils causes problems in connective tissues throughout the body such as malformations and disfigurements of the ligaments, spinal dura, lens zonules, and lung airways(Marcheix, 2008). The heart is also greatly negatively impacted through a weakening of the aortic wall, progressive aortic dilatation or aortic disjointing can occur because of strain caused by left ventricular contractions. Marfans occurs evenly in men and women and can be inherited from just one parent. Marfan syndrome is also referred to as... ... middle of paper ... ...sures (Milewicz, 2005). Acute dissection may be accompanied by all of the classic signs and symptoms similar to that of a heart attack, or it may be clinically silent. In an effort to decrease the mortality rate of patients suffering from Marfans and have a potentially high risk of aortic dissection, current studies are investigating the safety and practicality of endovascular stent graft repair. Endovascular stent graft repair is designed to help reinforce a weakened aorta. Endovascular surgery is performed inside the aorta using thin, long tubes called catheters to place a stent surrounded with a fabric liner. Endovascular stent grafting uses an endovascular stent graft to reinforce the wall of the aorta and to help keep the damaged area from rupturing and developing into a potentially serious health problem that can be fatal and cause massive internal bleeding.

In this essay, the author

  • Explains that marfan syndrome is an autosomal dominant hereditary disorder of connective tissue.
  • Explains that marfan syndrome occurs evenly in men and women and can be inherited from just one parent.
  • Opines that despite advances in medical, surgical, and endovascular treatments, marfan syndrome remains a tough clinical challenge. this study explores the safety and possibility of stent–graft placement in the dissected descending thoracic
  • Explains that the average life expectancy of untreated patients with marfan syndrome is 32 years. aortic dissection is one of the most disastrous maladies that can affect the aorta.
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