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Marfan Syndrome and the School Nurse


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From the National Marfan Foundation, this presentations gives an overview of Marfan syndrome and provides the school nurse with resources to identify students in need of an evaluation, make appropriate referrals, manage the healthcare and educational needs of the student, and to educate faculty and staff about the disorder. A free copy of the presentation is available to school nurses on our website at

Published in: Health & Medicine, Education
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Marfan Syndrome and the School Nurse

  1. 1. Marfan Syndrome: Need to Know Information for the School Nurse
  2. 2. Objectives <ul><li>Participants will be able to identify the signs and symptoms of Marfan syndrome in each body system </li></ul><ul><li>Participants will have a better understanding of the role of the school nurse in the identification of a child at risk for Marfan syndrome, diagnosis, management of a child with Marfan syndrome </li></ul><ul><li>Participants will be able to identify Marfan syndrome resources </li></ul>
  3. 3. History of Marfan Syndrome <ul><li>1896 first described by Dr. Antoine Marfan </li></ul><ul><li>1956 Dr. Victor A. McKusick </li></ul><ul><li>Mid-1970’s Marfan syndrome defined by cardinal features in three body systems </li></ul><ul><ul><ul><li>Musculoskeletal System </li></ul></ul></ul><ul><ul><ul><li>Ocular System </li></ul></ul></ul><ul><ul><ul><li>Cardiovascular System </li></ul></ul></ul><ul><li>1996 Meeting in Ghent, Belgium establishes “Ghent Criteria” for diagnosis </li></ul><ul><li>New “user friendly” criteria under development </li></ul>
  4. 4. History of Marfan Syndrome <ul><ul><ul><li>Current Standard of Care offers individuals with Marfan syndrome a realistic hope of a normal life span </li></ul></ul></ul><ul><ul><ul><ul><li>Early Diagnosis </li></ul></ul></ul></ul><ul><ul><ul><ul><li>Lifestyle modifications </li></ul></ul></ul></ul><ul><ul><ul><ul><li>Medical and surgical interventions </li></ul></ul></ul></ul>
  5. 5. Marfan Syndrome Defined <ul><ul><li>Estimated 200,000 affected individuals in the United States w/ Marfan syndrome or related disorder </li></ul></ul><ul><ul><li>Genetic disorder: Autosomal dominant connective tissue disorder </li></ul></ul><ul><ul><li>25% individuals affected by Marfan syndrome are spontaneous mutations </li></ul></ul><ul><ul><li>Mutation in the FBN1 gene which encodes the Fibrillin-1 protein </li></ul></ul><ul><ul><li>Current research has found that over-expression of growth factor TGF β as cause of Marfan features </li></ul></ul>
  6. 6. Marfan Syndrome Defined <ul><ul><li>Multi-system disorder </li></ul></ul><ul><ul><ul><li>Musculoskeletal System </li></ul></ul></ul><ul><ul><ul><li>Cardiovascular System </li></ul></ul></ul><ul><ul><ul><li>Ocular System </li></ul></ul></ul><ul><ul><ul><li>Neurological System </li></ul></ul></ul><ul><ul><ul><li>Pulmonary System </li></ul></ul></ul>
  7. 7. Body System Involvement Musculoskeletal “Typical” Physical Presentation <ul><li>Disproportionately tall thin stature </li></ul><ul><li>Thin narrow face with high arched palate, downturned eyes </li></ul><ul><li>Pigeon or concave chest and/or asymmetrical chest </li></ul><ul><li>Mild to severe scoliosis </li></ul>
  8. 8. Body System Involvement Musculoskeletal “Typical” Physical Presentation <ul><li>Thin narrow flat feet or high arched feet with hammer toes </li></ul><ul><li>Joint hyper mobility </li></ul><ul><li>Arachnodactyly </li></ul><ul><li>Decreased ligament support and increased risk of large joint dislocation </li></ul><ul><li>Low muscle and/or ligament tone and fatigue </li></ul>
  9. 9. Body System Involvement Cardiovascular <ul><ul><ul><li>Mitral valve prolapse </li></ul></ul></ul><ul><ul><ul><li>Arrhythmia </li></ul></ul></ul><ul><ul><ul><li>Aortic root dilation </li></ul></ul></ul><ul><ul><ul><li>Up to a 250 times greater chance of aortic dissection. </li></ul></ul></ul>
  10. 10. Body System Involvement <ul><ul><li>Neurological </li></ul></ul><ul><ul><ul><li>Dural ectasia </li></ul></ul></ul><ul><ul><ul><li>Headaches </li></ul></ul></ul><ul><ul><li>Pulmonary </li></ul></ul><ul><ul><ul><li>Increased risk for spontaneous pneumothorax </li></ul></ul></ul><ul><ul><ul><li>Increased risk for non-smoking emphysema </li></ul></ul></ul><ul><li>Ocular </li></ul><ul><ul><li>Myopia </li></ul></ul><ul><ul><li>Lens subluxation </li></ul></ul><ul><ul><li>Increased risk of retinal detachment </li></ul></ul>
  11. 11. “Classic” Marfan Syndrome
  12. 12. Marfan Hands
  13. 13. Which of each pair has Marfan syndrome? Answer: All Four have Marfan syndrome
  14. 14. “Extremely tall and skinny???”
  15. 15. More images of Marfan Syndrome
  16. 16. More Marfan images
  17. 17. Marfan Syndrome or Loeys-Dietz?
  18. 18. Marfan syndrome can be tricky! <ul><li>Many of these characteristics alone are common in the general population </li></ul><ul><li>The absence of some characteristics DOES NOT rule out Marfan syndrome </li></ul><ul><li>Several of these characteristics in combination may warrant a comprehensive evaluation </li></ul><ul><li>What do you see when you look at the characteristics cumulatively? </li></ul>
  19. 19. Diagnosis of Marfan syndrome <ul><ul><li>Comprehensive Evaluation, often coordinated by a medical geneticist </li></ul></ul><ul><ul><ul><li>Slit lamp eye exam </li></ul></ul></ul><ul><ul><ul><li>Echocardiogram </li></ul></ul></ul><ul><ul><ul><li>Physical examination </li></ul></ul></ul><ul><ul><ul><li>Family history </li></ul></ul></ul>Diagnosis and Treatment are determined by clinical evaluation
  20. 20. Diagnosis of Marfan syndrome <ul><ul><li>Molecular Testing </li></ul></ul><ul><ul><ul><li>Genetic testing is available for FBN1 mutations </li></ul></ul></ul><ul><ul><ul><li>Costly ($2,000) </li></ul></ul></ul><ul><ul><ul><li>Still not perfect – it is neither reliable nor specific </li></ul></ul></ul><ul><ul><ul><li>Useful in reproductive counseling </li></ul></ul></ul><ul><ul><ul><li>Not used for primary diagnosis of Marfan syndrome </li></ul></ul></ul><ul><ul><ul><li>Genetic testing specific for Loeys-Dietz Syndrome is available and reliable </li></ul></ul></ul>
  21. 21. Diagnosis of Marfan syndrome <ul><li>Diagnosis is made through comprehensive clinical evaluation! </li></ul><ul><li>Early diagnosis SAVES LIVES! </li></ul>
  22. 22. Role of the School Nurse: Diagnosis <ul><ul><li>Diagnosis </li></ul></ul><ul><ul><li>Referral </li></ul></ul><ul><ul><li>Management </li></ul></ul><ul><ul><li>Education </li></ul></ul>
  23. 23. Role of the School Nurse: Diagnosis <ul><ul><li>Postural Screenings </li></ul></ul><ul><ul><li>Visual Screenings </li></ul></ul><ul><ul><li>BMI Screening </li></ul></ul><ul><ul><li>Pre-Sports Participation Health Release Forms </li></ul></ul>
  24. 24. Role of the School Nurse: Diagnosis <ul><ul><li>Pre-Sports Participation Health Release Forms </li></ul></ul><ul><ul><ul><li>Family history of Marfan syndrome </li></ul></ul></ul><ul><ul><ul><li>Family history of early cardiac death </li></ul></ul></ul><ul><ul><ul><li>History of spontaneous pneumothorax </li></ul></ul></ul><ul><ul><ul><li>History of frequent joint dislocation </li></ul></ul></ul><ul><ul><ul><li>History of hernias </li></ul></ul></ul><ul><ul><ul><li>Ophthalmalogic history </li></ul></ul></ul><ul><ul><ul><li>Skeletal features </li></ul></ul></ul>
  25. 25. Role of the School Nurse: Referral <ul><ul><li>Convey need for evaluation to parents </li></ul></ul><ul><ul><li>Provide appropriate referrals </li></ul></ul><ul><ul><li>Follow up </li></ul></ul>
  26. 26. Role of the School Nurse: IHP <ul><ul><li>Complete history from diagnosis to present </li></ul></ul><ul><ul><ul><li>Categorize by body systems </li></ul></ul></ul><ul><ul><ul><li>List of clinicians </li></ul></ul></ul><ul><ul><ul><li>Ongoing monitoring </li></ul></ul></ul>
  27. 27. Role of the School Nurse: IHP <ul><ul><li>It is strongly recommended that individuals with Marfan DO NOT participate in competitive sports. </li></ul></ul><ul><ul><ul><ul><li>Significantly increase the risk of severe and potentially life threatening cardiac complications. </li></ul></ul></ul></ul><ul><ul><ul><ul><li>Increase risk of long-term skeletal complications </li></ul></ul></ul></ul><ul><ul><ul><ul><li>Psychosocial implications surrounding student creating social network in context of sports </li></ul></ul></ul></ul>
  28. 28. <ul><ul><ul><li>Medical Management </li></ul></ul></ul><ul><ul><ul><ul><li>Antihypertensives </li></ul></ul></ul></ul><ul><ul><ul><ul><li>Anticoagulants </li></ul></ul></ul></ul><ul><ul><ul><ul><li>Headache and/or pain management </li></ul></ul></ul></ul><ul><ul><ul><ul><li>Antidepressants </li></ul></ul></ul></ul>Role of the School Nurse: IHP
  29. 29. <ul><ul><li>Emergency Plan </li></ul></ul><ul><ul><ul><li>Physician and insurance information </li></ul></ul></ul><ul><ul><ul><li>List of all medications </li></ul></ul></ul><ul><ul><ul><li>Keep document on hand with current clinical status </li></ul></ul></ul><ul><ul><ul><li>Date of last ECHO and findings </li></ul></ul></ul><ul><ul><ul><li>List all surgeries to date </li></ul></ul></ul><ul><ul><ul><li>Verify the hospital individual should be transported to in the event of an emergency. </li></ul></ul></ul>Role of the School Nurse: IHP
  30. 30. <ul><ul><li>Other Components </li></ul></ul><ul><ul><ul><li>Academic Issues </li></ul></ul></ul><ul><ul><ul><li>Self Care </li></ul></ul></ul><ul><ul><ul><li>Psychosocial status </li></ul></ul></ul>Role of the School Nurse: IHP
  31. 31. <ul><ul><li>Medical liaison to the school community </li></ul></ul><ul><ul><ul><li>Faculty </li></ul></ul></ul><ul><ul><ul><li>Students </li></ul></ul></ul><ul><ul><li>Education of affected student and parents </li></ul></ul>Role of the School Nurse: Education
  32. 32. Conclusion <ul><ul><li>Marfan syndrome is a genetic connective disorder that affects an estimated 200,000 in the United States </li></ul></ul><ul><ul><li>25% are spontaneous mutations </li></ul></ul><ul><ul><li>Early diagnosis and intervention saves lives. </li></ul></ul><ul><ul><li>Diagnosis and treatment are determined through comprehensive clinical evaluation </li></ul></ul><ul><ul><li>Molecular testing is NOT USED for diagnosis </li></ul></ul>
  33. 33. Conclusion <ul><ul><li>It is strongly recommended that individuals with Marfan syndrome DO NOT participate in competitive sports </li></ul></ul><ul><ul><li>School Nurses have a valuable role in helping identifying individuals at risk for Marfan syndrome </li></ul></ul><ul><ul><li>School Nurses have an important role in supporting the individual diagnosed with Marfan syndrome. </li></ul></ul>
  34. 34. Resources
  35. 35. Resources <ul><li>National Marfan Foundation </li></ul><ul><li>22 Manhasset Ave </li></ul><ul><li>Port Washington, NY 11050 </li></ul><ul><li>(800) 8-MARFAN x. 26 </li></ul><ul><li> </li></ul>