Transcript Marfan Syndromex - shsbiogeneticdisorders

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
Michael Phelps; Gold
Medalist in Swimming
• Pulling a teeth from a
person with Marfan
Syndrome can kill them
Abraham Lincoln, 16th
president
• February is Marfan
Syndrome’s Awareness
month.
Discovered by a French
Pediatrician named Antoine
Marfan.
Sources
• Medic 8. "Marfan Syndrome." Medical Search
Engine | Cosmetic Surgery, Dentistry Health
Insurance Guides - Medic8. Web. 26 Jan. 2011.
<http://www.medic8.com/genetics/marfansyndrome.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/marfansyndrome/>.