Marfan SyndromeBy: Oliver Bell

• A mutation or a defect in the gene that makes Fibrillin- 1 (FBN1). Important part of connective tissue.

• Hereditary (Passed Down from mom/dad, etc.)

• “Autosomal Dominant”- Equal chance for men and women to get.

• 50% chance of passing it on.

• 1 out of 10,000 Americans born.

How does Marfan's occur?

History of Marfan's• 1896 - Dr. Antoine Marfan identifies a group of skeletal

characteristics in a single patient.• Led to many study’s of Skeletal, Cardiovascular , and

connective tissue studies. • 1991- Hal Dietz and Francesco Ramirez found the gene linked to Marfan’s.

What type of mutation?

Gene

Where does Marfan's occur?• In Chromosome 15, FBN1

What are the effects of Marfan's?• Three main effected groups :

-Cardiovascular (Heart & Blood Vessels)-Skeletal (Bones & Joints)-Ocular (Eyes)

Cardiovascular: -Enlarged or bulging aorta, the main blood vessel that carries

blood from the heart (aortic dilation or aneurysm)

*-Separation of the layers of the aorta that can cause it to tear (Aortic Dissection)*

-“Floppy” mitral valve (mitral valve prolapse – MVP)

(http://www.marfan.org/marfan/2320/Features)

Skeletal-

-Long arms and legs

-Tall and thin body type

-Curvature of the spine (scoliosis or kyphosis)

-Chest sinks in (Pectus Excavatum) or sticks out/pigeon breast (Pectus Carinatum)

-Long, thin fingers

-Flexible joints

-Flat feet

-Teeth that are too crowded

(http://www.marfan.org/marfan/2320/Features)

Ocular system-

-Severe nearsightedness (myopia)

-Dislocated lens of the eye

-Detached retina

-Early glaucoma

-Early cataracts

(http://www.marfan.org/marfan/2320/Features)

Famous People & Marfan’s• Vincent Schiavelli- Actor, Fast times at Ridgewood High, Ghost. *

• Bradford Cox- Lead singer of Deerhunter.

• John Taverner- British classical composer.

• Flo Hyman- 1984 U.S. Volleyball Captain. **

• Jonathan Larson- Creator of RENT. **

• Ronalda Pierce- College basketball player. **

• Euell Gibbons- Actor, Food advocate. **

• Chris Patton - College basketball player. **

(http://www.marfan.org/marfan/5732/Notable-Individuals-&-Celebrities-With-Marfan-Syndrome)

*- Died**- died due to Marfan’s

Questions1. What protein is affected by Marfan’s?

A. FibolasB. FolabC. FibrillinD. Falabro

2. One out of _____ children are diagnosed with Marfan's. A. 1B. 100C. 1000D. 10,000

3. What are the three main groups effected by Marfan’s?A. Cardio, Eyes, HairB. Cardio, Skeletal, EyesD. Eyes, Nasal, TeethE. Everything in the body

4. What cardiovascular condition kills most people Marfan's?A. Enlarged heartB. An extra heartC. Aortic dissectionD. Cardiovascular Aorta Fibrosis

5. What is the major difference between a normal person’s spine structure , and a person with Marfan’s?

A. No differenceB. Completely straightC. Spinal compression D. Varies from person to person.

Bibliography • http://www.medicinenet.com/marfan_syndrome/article.htm• http://www.mayoclinic.com/health/marfan-syndrome/DS00540• http://www.marfan.org/marfan/2280/about-marfan-syndrome• http://www.nlm.nih.gov/medlineplus/ency/article/000418.htm• http://my.clevelandclinic.org/heart/disorders/aorta_marfan/marfan.aspx• http://www.genome.gov/19519224