Marfan Syndrome

Also known as Arachnodactyly, MFS, &

Marfan Syndrome Type 1 and Type 2

By: Kianna Thompson

What is Marfan Syndrome?

• It’s an inherited disorder of connective tissue, the tissue that supports your heart valves, cartilage, and vessel walls.

• Mainly affects the heart, blood vessels, skeleton and eyes.• Characteristics: tall, thin, slender fingers, arm span that

exceeds normal height, unusual flexible joints, narrow face and high roofed mouth with crowned teeth.

• You can tell by looking at the person if they have Marfan because the person will have the slender fingers, very tall, and their arm span exceeds normal body height.

Which Gene?

• Mutations in the FBN1 (Fibrillin 1) gene cause Marfan Syndrome.

• The FBN1 gene provides instructions on how to make the protein Fibrillin 1.

• Over 600 mutations on the FBN1 gene that causes Marfan Syndrome.

Located on the long arm of 15 chromosome at position 21.1

Common Problems

• Nearsightedness and cataracts are also a common problem. • An abnormal bulging may develop in aorta. If it tears or

ruptures it may cause a sudden death or serious heart problems.

• Shortness of break, fatigue, and a fast irregular heartbeat.• This Syndrome can be fatal because it affects the heart.• If treated, it will not reduce the lifespan.

Statistics

• In the United States, Marfan Syndrome affects 1 in 5,000 to 1 in 10,000 people.

• Marfan affects males, females and different ethnic groups equally.

• Nearly 2/3 of the people with Marfan have scoliosis or a sunken or barreled chest.

• 75% of people inherit Marfan from one affected parent.

• 25% of Marfan causes a new mutation in the gene (no history of syndrome in family).

Inheritance Pattern

• It’s inherited in an autosomal dominate pattern which means one copy of the altered gene can cause the disorder.

Support Groups

Many support groups– American Heart Association – National Marfan Foundation• Annual Conference July 14-17, 2011 in Portland,

Oregon

– Connor’s Marfan Syndrome Support Group• 10 yr old boy named Connor who started an online

support group where kids just like him can support other kids.

Can you be tested?

• Body Testing– Cheek– Skin– Blood

• Genetic Testing• FBN1 testing is approximately $2000.

Is there Treatment?• Heart Surgery

– Aortic aneurysm repair• Most Common

– Aortic valve repair, aortic valve replacement and mitral valve repair or replacement.

• Medication– Beta- Blocking medications have been shown to slow down the enlargement

of the aorta.– An Angiotensin Receptor Blocker (ARB)

• Blood Pressure and Heart Failure

• Lifestyle Changes– Avoiding hard exercising and contact sports

• Combination of Three• However, this syndrome genetic so there is not cure.

Interesting Facts

1931 German Family that had Marfan Syndrome

Abraham Lincoln, 16th president

• Pulling a teeth from a person with Marfan Syndrome can kill them

• February is Marfan Syndrome’s Awareness month.

Discovered by a French Pediatrician named Antoine Marfan.

Michael Phelps; Gold Medalist in Swimming

Sources

• Medic 8. "Marfan Syndrome." Medical Search Engine | Cosmetic Surgery, Dentistry Health Insurance Guides - Medic8. Web. 26 Jan. 2011. <http://www.medic8.com/genetics/marfan-syndrome.htm>.

• www.cleavandclinic.org• Mayo Clinic. "Marfan Syndrome - Diagnosis and

Treatment Options at Mayo Clinic." Mayo Clinic. 2001. Web. 25 Jan. 2011. <http://www.mayoclinic.org/marfan-syndrome/>.