2010 revised diagnostic criteria nvn

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An overview of the 2010 Revised Ghent Nosology for Marfan Syndrome. Created to train those knowledgable of the disorder of the changes in how the disorder is diagnosed, including systemic score, z-score calculation, genetic testing, differential diagnosis, etc.

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2010 revised diagnostic criteria nvn

  1. 1. 2010 Revised Diagnostic Criteria
  2. 2. Objectives <ul><li>Review the new diagnostic criteria for Marfan syndrome and related disorders </li></ul><ul><li>Recognize and appreciate the distinguishing characteristics of select disorders with overlapping features </li></ul><ul><li>Reinforce your job role as a contact support person </li></ul>
  3. 3. Background <ul><li>Heritable disorders of connective tissue include a wide range of disorders with overlapping features </li></ul><ul><li>Accurate diagnosis is essential for proper medical management and requires careful clinical evaluation to identify associated features </li></ul>
  4. 4. Purpose of Diagnostic Criteria PATIENTS PHYSICIANS & COUNSELORS RESEARCHERS Avoid undue patient burden Improve proper patient management Inform research
  5. 5. Pros/Cons of 1996 Diagnostic Criteria <ul><li>Pros: </li></ul><ul><li>World-wide application </li></ul><ul><li>Helpful in making the diagnosis of MFS </li></ul><ul><li>Proved to be both sensitive and specific with FBN1 mutations identified in over 95% of patients fulfilling Ghent criteria </li></ul><ul><li>Cons: </li></ul><ul><li>In the absence of aortic enlargement, the diagnosis can be stigmatizing, hampering career aspirations and restricting insurance opportunities </li></ul><ul><li>The label “MFS” may cause a psychological burden and depression because of physical restrictions </li></ul><ul><li>Some diagnostic features have not been validated such as stretch marks </li></ul><ul><li>Others necessitate imaging that is not clinically indicated </li></ul><ul><li>e.g. dural ectasia </li></ul><ul><li>Difficult application in children </li></ul>
  6. 6. Methods for Improving 1996 Diagnostic Criteria <ul><li>Expert panel meeting relied on: </li></ul><ul><li>Large database of medical records </li></ul><ul><li>individual opinion based on extensive patient care </li></ul><ul><li>practical experience with the use of the current criteria </li></ul><ul><li>Guiding principles: </li></ul><ul><li>maximal use of evidence-based decision making </li></ul><ul><li>consider patient-centric implications </li></ul><ul><li>focus on distinguishing MFS from its related disorders </li></ul><ul><li>define purposeful features </li></ul>
  7. 7. 2010 Revised Diagnostic Criteria <ul><li>Emphasis on the key features of Marfan syndrome </li></ul><ul><ul><li>Aortic root aneurysm/ aortic root dissection </li></ul></ul><ul><ul><li>Ectopia lentis (lens dislocation) </li></ul></ul><ul><li>New systemic score assigns less specific features of Marfan syndrome a numeric value so they are weighted properly in the evaluation process. </li></ul>
  8. 8. New Features of the 2010 Revised Diagnostic Criteria <ul><li>Highlights the identification of additional features that would suggest an alternative diagnosis </li></ul><ul><li>Provides a more precise role for molecular testing </li></ul><ul><li>Defines criteria for those with a family history and those without a family history </li></ul>
  9. 9. 2010 Revised Diagnostic Criteria <ul><li>Criteria for Marfan syndrome diagnosis in patients with no family history </li></ul><ul><li>- Ao (Z ≥ 2) AND ectopia lentis </li></ul><ul><li>- Ao (Z ≥ 2) AND FBN1 mutation </li></ul><ul><li>- Ao (Z ≥ 2) AND systemic features (≥ 7 points) </li></ul><ul><li>- Ectopia lentis AND FBN1 associated with known aortic involvement </li></ul><ul><li>Ao = aortic diameter above indicated Z-score or aortic root dissection </li></ul>
  10. 10. Systemic Features <ul><li>Wrist AND thumb sign 3 </li></ul><ul><li>Wrist OR thumb sign 1 </li></ul><ul><li>Pectus carinatum (protruding) 2 </li></ul><ul><li>Pectus excavatum or chest 1 </li></ul><ul><li>asymmetry (indented) </li></ul><ul><li>Hindfoot deformity 2 </li></ul><ul><li>Plain pes planus (flat feet) 1 </li></ul><ul><li>Pneumothorax (lung) 2 </li></ul><ul><li>Dural ectasia (lower back) 2 </li></ul><ul><li>Protrusio acetabuli (hip) 2 </li></ul><ul><li>Reduced US/LS AND increased 1 </li></ul><ul><li>arm/height AND no severe scoliosis </li></ul><ul><li>Scoliosis or thoracolumbar kyphosis 1 </li></ul><ul><li>Reduced elbow extension 1 </li></ul><ul><li>Facial features- (3/5): 1 </li></ul><ul><li>dolichocephaly, enophthalmos, downslanting palpebral fissures, </li></ul><ul><li>malar hypoplasia, retrognathia </li></ul><ul><li>Skin stretch marks 1 </li></ul><ul><li>Myopia > 3 diopters 1 </li></ul><ul><li>Mitral valve prolapse 1 </li></ul><ul><li>Maximum total: 20 ≥ 7 systemic involvement </li></ul>
  11. 11. 2010 Revised Diagnostic Criteria <ul><li>Criteria for Marfan syndrome diagnosis in patients with a positive family history </li></ul><ul><ul><li>Ectopia lentis AND family history of MFS </li></ul></ul><ul><ul><li>Systemic features (≥ 7 points) AND family history of MFS </li></ul></ul><ul><ul><li>Ao family history of MFS </li></ul></ul><ul><ul><li>(Z ≥ 2 above 20 years, ≥ 3 below 20 years) </li></ul></ul>
  12. 12. Special considerations for children (<20 yrs): <ul><li>If insufficient systemic features (<7) and/or borderline aortic root measurements (Z < 3) are present (without FBN1 mutation) </li></ul><ul><li>-> use “non-specific connective tissue disorder” until follow-up echo evaluation shows aortic root dilation (Z≥3). </li></ul><ul><li>If an FBN1 mutation is identified in sporadic or familial cases but aortic root measurements are still below Z=3, </li></ul><ul><li>-> use the term “potential MFS” until the aorta reaches threshold. </li></ul>
  13. 13. Emphasis on the Differential Diagnosis <ul><li>Diagnosis of MFS must be made in the absence of features suggestive of alternative diagnosis such as Loeys Dietz Syndrome, Familial Aortic Aneurysm etc. </li></ul><ul><li>Consideration of genetic testing for TGFBR1/2, COL3A1, and other genes as they are identified over time </li></ul>
  14. 14. Differential Diagnosis/Related Disorders <ul><li>Ectopia lentis syndrome </li></ul><ul><ul><li>Dislocated lenses with or without systemic features AND with an FBN1 not associated with Ao or no FBN1 </li></ul></ul><ul><li>MASS (myopia, MVP, borderline aortic root dilation, striae, skeletal findings) </li></ul><ul><ul><li>Ao (Z < 2) AND systemic features ≥ 5 (with at least one skeletal feature) without ectopia lentis </li></ul></ul><ul><li>Mitral valve prolapse syndrome </li></ul><ul><ul><li>MVP AND Ao (Z < 2) AND systemic features < 5 without ectopia lentis </li></ul></ul>
  15. 15. Conclusions <ul><li>Accurate diagnosis of patients with connective tissue disorders is critical to guide medical management and provide families with appropriate risk assessment </li></ul><ul><li>The revised Ghent criteria provides a comprehensive approach to the evaluation and management of patients with Marfan syndrome and related disorders </li></ul><ul><li>New information and new discoveries will continue to shape and refine these recommendations </li></ul>
  16. 16. Your Role as Support Contact <ul><li>Listen </li></ul><ul><li>Provide Support </li></ul><ul><li>Key points </li></ul><ul><ul><li>Clinical evaluation is necessary </li></ul></ul><ul><ul><li>Monitoring of the aorta frequently is crucial </li></ul></ul>

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