Marfan Syndrome

1. Marfan Syndrome Introduction & Overview

2. What is Marfan Syndrome? Connective Tissue Disorder Malformation of Chromosome 15 • Affects bodily structures: • Skeleton • Lungs • Eyes • Heart • Blood vessels

3. What is Connective Tissue? “Cellular Glue” The material between the cells of the body that gives tissues form and strength Serves to support, bind together, and protect organs

4. Skeleton Affects people in different ways • very tall • Slender • loose jointed • arms, legs, fingers, and toes may be disproportionately long • long, narrow face • Sternum protruding or indented • curvature of the spine (scoliosis) • flat feet

5. Eyes Affects people in different ways • dislocation of one or both lenses • Retinal detachment - possible serious complication • nearsighted (myopic), • glaucoma (high pressure within the eye) • cataracts

6. Cardiovascular Affects people in different ways • problems associated with the heart and blood vessels • abnormal valve motion - heart murmur • left chambers of the heart is defective • shortness of breath, fatigue and palpitations • aortic dilation - sudden death

7. Nervous system Affects people in different ways • dural ectasia - widening of the spinal fluid sac • mild discomfort or may lead to radiated pain in the abdomen or to pain, • numbness and weakness of the legs

8. Skin Affects people in different ways • stretch marks - without any significant weight change • abdominal or inguinal (groin) hernia

9. Lungs Affects people in different ways • Restrictive lung disease • Spontaneous pneumothorax • early emphysema, without a history of smoking • snoring and sleep apnoea

10. Regan Lawton Father Deceased 1997 Left lens removed Visual requirements Bifocal Glasses Inevitable Aortic Dissection Beta Blockers

11. Summary • Surgery • Better Nutrition • Beta blockers • Prevention • Avoid extensive exercise - contact sports and heavy weights

12. Marf Man – Anatomy of a Superhero http://www.marfanlife.net