Marfan Syndrome

1. Marfan Syndrome By: Jorge Duque Yanet Enriquez Arianna Fernandez Nadia Fefry Yaneeke Holliman

2. Answer to the Riddle John Ritter • Actor. • Was in a show called Three's Company from 1977-1984. • In 1993, died from an aortic dissection caused by Marfan Syndrome. Rent • Play created by Jonathan Larson. • He died in 1996 from an aortic dissection caused by Marfan Syndrome. Abraham Lincoln • was believed to have Marfan Syndrome (long limbs).

3. Disease/Condition • Named after Antoine Marfan in 1899. • Marfan syndrome is an autosomal dominant genetic disorder of the connective tissue. • The connective tissue is defective. • It can affect many body systems, structures and organs including: • the skeleton, eyes, heart and blood vessels, nervous system, skin, lungs, the dural sac surrounding the spinal cord, and hard palate. • It affects men, women, and children. • Found among people of all races and ethnic backgrounds. • 1 in 5,000 people in the United States have the disorder. • Disorder progresses as the person ages.

4. Characteristics/Clinical Manifestation • Unusually long limbs, great stature, or long toes (or fingers) in proportion to the person's height, • Predisposition to cardiovascular disease.

5. Characteristics/Clinical Manifestation Cont. John Ritter and Jonathan Larson had problems associated with the cardiovascular system and both died from aortic dissection. • Most people with Marfan syndrome have problems associated with the cardiovascular system: the heart and blood vessels. • The valve between the left chambers of the heart is defective and may be large and floppy. • The valve may leak, creating a "heart murmur," • Symptoms include shortness of breath, fatigue and palpitations (a very fast or irregular heart rate). • The wall of the aorta may be weakened and stretch, a process called aortic dilation. • Aortic dilation increases the risk that the aorta will tear (dissect) or rupture, causing serious heart problems or sometimes sudden death (aortic dissection).

6. Characteristics/Clinical Manifestation Cont. • Abraham Lincoln was believed to have Marfan Syndrome due to problems associated with the Skeleton. • Typically, but not always, very tall or taller with slender and loose jointed. • Affects the long bones of the skeleton. • Therefore the arms, legs, fingers, and toes may be disproportionately long in relation to the rest of the body • Long, narrow face, and the roof of the mouth may be arched, causing the teeth to be crowded. • Other skeletal abnormalities include a sternum (breastbone) that is either protruding or indented, curvature of the spine (scoliosis), and flat feet.

7. Treatment • Treatment options can minimize and sometimes prevent complications. • Heart and blood vessels- • Regular checkups and echocardiograms • The earlier a potential problem is identified and treated, the lower the risk of life-threatening complications. • Wear a medical alert bracelet and to go to the emergency room if they experience chest, back or abdominal pain. • Drugs such as beta-blockers, • Surgery • Following heart surgery, extreme care must be followed to prevent endocarditis. • Dentists should be alerted to this risk.

8. Treatment (Cont.) • Skeletal- • Annual evaluations are important to detect any changes in the spine or breastbone (sternum). • In some cases, an orthopedic brace or surgery may be recommended.

9. References • Information retrieved from Google search using the key word “Marfan Syndrome” on May 14, 2007. • Web Sites: • http://www.marfan.org/ • http://www.allaboutarthritis.com/image/stock_image/marfan_syndrome02.jpg • http://www.medstudents.com.br/original/revisao/marfan/marfan.jpg • http://www.google.com/search?source=ig&hl=en&q=marfan+syndrome • http://en.wikipedia.org/wiki/Marfan_syndrome