what if my panel is negative how do i manage my patient
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What if my panel is negative? How do I manage my patient? Robert Campbell, MD September 30, 2016 NO DISCLOSURES Childrens Healthcare of Atlanta | Sibley Heart Center Cardiology Negative LQTS gene panel report Childrens Healthcare of

  1. What if my panel is negative? How do I manage my patient? Robert Campbell, MD September 30, 2016

  2. NO DISCLOSURES Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

  3. Negative LQTS gene panel report Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

  4. Negative LQTS gene panel report Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

  5. Are you surprised? Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

  6. Now what? Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

  7. What was your initial level of clinical suspicion? Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

  8. Clinical Scenario A: Syncope • 14 year old female • Negative family history • Vasovagal warning signs • Normal ECG Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

  9. Clinical Scenario B: Syncope 14 year old female        Schwartz criteria 2012 Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

  10. Clinical Scenario B QTc = 690ms Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

  11. Patient Truth Positive Negative False Positive True Positive Positive LQTS genotype A B Negative True Negative False Negative

  12. What is your LQTS genotype hit rate? GeneDx data: LQTS is 75-80% and has been the same since beginning too, with minimal increase in detection because the main gene players have always been on the panel… Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

  13. Now What …..?? Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

  14. 1. Genetic Counselors • Obtain multigenerational family pedigree • Explain the role of genetic testing • Obtain sample • EXPLAIN THE RESULTS Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

  15. 2. “Revisit Clinical Diagnosis” • Re-review family history and patient history • Reanalyze all ECGs • Personally review exercise testing results, epi challenge  Overestimation of QTc  Diagnosing LQTS based on “borderline QTc”  Confusion with vasovagal syncope Diagnostic Miscues in Congenital Long-QT Syndrome (Circulation 2007;115;2613-2620) Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

  16. 3. Have you constructed a complete and correct multigenerational family pedigree? Have you tested the right family member? died in old age, hx of syncope Vfib d.5y SCA SCA ~40y SCA driving ICD KCNQ1 + 53y 36 y SCA ?valve abnl SCA 6 days Cocaine post partum 15y ? ? QTc 508 21y Syncope,chest pain SCA ICD ICD 17y Palpitations at rest ICD Prev nl card. Eval KCNQ1 + ? 5 ? ? ? 5 KCNQ1 @11y KCNQ1+ KCNQ1+ 16 Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology No screen

  17. 4. Do you have cascade testing on first degree relatives? 80y d. 32y d. 22y MVA MVA d. 55y 45y d. 15y 55y 44y MVA ‘fell asleep Playing outside MVA At the wheel’ 16y 14y RYR2 neg. Sudden Cardiac Arrest CPVT RYR2 positive Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology 17

  18. 5. Gene testing • Era of the genotype • Research versus clinical • Panel density Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

  19. 6. Consider Comprehensive Arrhythmia Panel? CPVT vs LQTS Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

  20. 7. Next level genetic testing Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

  21. 8. Center of Excellence 2 nd Opinion Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

  22. 9. SADS Scientific Advisory Board review Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

  23. Ultimately …. In the absence of a positive genotype … Confirm a correct clinical diagnosis Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

  24. Ultimately ….. When uncertain regarding diagnosis will you: Underdiagnose? Overdiagnose? • Under-test • Over-test • Under-treat • Over-treat • Under-restrict • Over-restrict • Under-worry • Over-worry • ? Under-protect from SCA • Better protected from SCA Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

  25. Summary • Negative genotype does not exclude disease • Negative genotype may confuse/confound diagnosis, so …. take a deep breath and reconsider all clinical clues • Consider second opinions, COE • Ultimate goal is correct diagnosis  management • Consider repeating genotype in the future Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

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