Marfan Syndrome Research Paper

Marfan syndrome is a genetic disorder that affects the connective tissue. It is the most common inherited disorder of connective tissue that affects multiple organ systems. It is also called arachnodactyly. This autosomal-dominant condition has an incidence of 2-3 per 10,000 individuals. It is caused by a defect in the gene that tells the body how to make firillin-1. This a protein that helps make up connective tissue. The mutation causes more of the protein called transforming growth factor beta to be produced. Because connective tissue is located throughout the body many different parts of the body can be affected.

The gene that causes Marfan usually is passed down from a parent, but there are some people who have it with no known

Sometimes surgery is performed to replace the aortic root and valve. People with Marfan also are monitored for scoliosis especially during their teenage years. There is no cure for Marfan syndrome. It is important that people with Marfan do not smoke as they are at risk for lung damage. Pregnancy should be monitored as a high-risk situation. Also genetic counseling is advised. There is a fifty percent change that the parent will pass the disease on to their children.

Marfan may also cause social, emotional, and financial stress. There may be concern about not being able to have children or passing the gene on to future generations. The life expectancy of a person with Marfan is two thirds that of a person without the disease, but this is increasing due to improvements in recognition and treatment.

Scientists are conducting research to help with the aortic weakening and rupture that is a characteristic of Marfan. Clinical studies are being conducted to evaluate the usefulness of certain medications in preventing or reducing problems with the aorta. There are organizations like the National Marfan Foundation and the March or Dimes Birth Defects Foundation that work to provide resources and support to those affected by