Marfan Syndrome

Cambria B, Tyler F, William W, Victoria C.

Genetic Transmission

  • Marfan Syndrome

  • Chromosome 15 is affected during Marfan Syndrome

  • The change in chromosomes are due to a mutation

  • Marfan Syndrome is inherited in an autosomal dominant pattern

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Symptoms/Diagnosis/Frequency

Symptoms

  • Tall and slender build

  • Long arms, legs, fingers and toes

  • Breastbone that protrudes outward or dips inward

  • Crowded teeth

  • Heart murmurs

  • Extreme nearsightedness

  • Abnormally curved spine

  • Flat feet

Test to Diagnosis


There are Heart Tests, Eye Tests, and Genetic Tests you can take to see if you have Marfan’s Syndrome. This syndrome can be challenging for doctors to diagnose because it shows similar signs and symptoms to other connective tissue disorders. A person may have features of Marfan syndrome, but not enough to be diagnosed with the disorder.

Common?/Frequency

Marfan syndrome is one of the most common inherited disorders of connective tissue. It is found in approximately 1 in 5,000 people worldwide. Anybody can be diagnosed with Marfan Syndrome, and it only takes 1 parents to pass the disorder down.

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Life Expectancy and Treatments

In the past, the average life expectancy for people with Marfan syndrome was 32 years old. Today, with the help of early diagnosis, appropriate management, and long-term follow-up care, most people with the disorder live active, healthy lives with a life expectancy similar to that of the general population which is 79.

Marfan syndrome requires a treatment plan that is individualized to the patient's needs. Some people need regular appointments with their doctor, and during the growth years, routine cardiovascular, eye, and orthopedic exams. Others may need medications or surgery. The approach depends on the structures affected and the severity.

Surgery

The goal of surgery for Marfan syndrome is to prevent aortic dissection or rupture and to treat problems affecting the heart's valves, which control the flow of blood in and out of the heart and between the heart's chambers.
The decision to perform surgery is based on the size of the aorta, expected normal size of the aorta, rate of aortic growth, age, height, gender, and family history of aortic dissection. Surgery involves replacing the dilated portion of the aorta with a graft, a piece of man-made material that is inserted to replace the damaged or weak area of the blood vessel.
A leaky aortic or mitral valve (the valve that controls the flow of blood between the two left chambers of the heart) can damage the left ventricle (the lower chamber of the heart that is the main pumping chamber) or cause heart failure. In these cases, surgery to replace or repair the affected valve is necessary. If surgery is performed early, before the valves are damaged, the aortic or mitral valve may be repaired and preserved. If the valves are damaged, they may need to be replaced. People who have surgery for Marfan syndrome still require life-long follow-up care to prevent future complications associated with the disease.

Fun Facts About Marfan Syndrome

  • The genetic disorder can cause social, emotional, and financial stress. It often requires changes in their view on life and the way they live it..

  • People with Marfan syndrome may feel many strong emotions, including anger and fear.

  • Pulling a tooth from someone with Marfan syndrome could kill them, because of their weak heart valves, they are very prone to infection. They are usually given antibiotics after surgery or a regular dental exam.

  • Despite the complications with Marfan Syndrome some people can live until their 70’s if they have a proper lifestyle change.

  • People with Marfan Syndrome have an arm span greater than height so when they stretch out their arms to the side, the measurement from finger tip to finger tip is more than their height.

  • Abraham Lincoln suffered from Marfan Syndrome!

Bibliography

"5 Important Facts About Marfan Syndrome - HRF." HRF. 4 Dec. 2014. Web. 19 Jan. 2015. <http://healthresearchfunding.org/5-important-facts-marfan-syndrome/>.

"Marfan Syndrome." Fast Facts about. Web. 19 Jan. 2015. <http://www.niams.nih.gov/Health_Info/Marfan_Syndrome/marfan_syndrome_ff.asp>.

"Marfan Syndrome Symptoms, Causes, Treatments." WebMD. WebMD. Web. 19 Jan. 2015. <http://www.webmd.com/heart-disease/guide/marfan-syndrome?page=2>.

"Marfan Syndrome." Genetics Home Reference. Web. 19 Jan. 2015. <http://ghr.nlm.nih.gov/condition/marfan-syndrome>.

"Marfan Syndrome." Genetics Home Reference. Web. 19 Jan. 2015. <http://ghr.nlm.nih.gov/condition/marfan-syndrome>.

"What Is Marfan Syndrome?" What Is Marfan Syndrome? Web. 19 Jan. 2015. <http://www.marfan.org/about/marfan>.

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