What if my panel is negative? How do I manage my patient? Robert - - PowerPoint PPT Presentation

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What if my panel is negative? How do I manage my patient? Robert - - PowerPoint PPT Presentation

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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

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What if my panel is negative? How do I manage my patient?

Robert Campbell, MD September 30, 2016

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Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

NO DISCLOSURES

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Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

Negative LQTS gene panel report

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Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

Negative LQTS gene panel report

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Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

Are you surprised?

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Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

Now what?

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Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

What was your initial level of clinical suspicion?

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Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

Clinical Scenario A: Syncope

  • 14 year old female
  • Negative family history
  • Vasovagal warning signs
  • Normal ECG
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Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

Schwartz criteria 2012

      Clinical Scenario B: Syncope 14 year old female

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Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

Clinical Scenario B

QTc = 690ms

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True Positive False Positive True Negative False Negative

LQTS genotype

Positive Negative

Patient Truth

Positive Negative

A B

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Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

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…

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Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

Now What …..??

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Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

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

  • 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
  • 2. “Revisit Clinical Diagnosis”

(Circulation 2007;115;2613-2620)

Diagnostic Miscues in Congenital Long-QT Syndrome

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Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

15y QTc 508 Syncope,chest pain Palpitations Prev nl card. Eval KCNQ1

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36 y SCA 6 days post partum ~40y SCA Cocaine SCA driving 53y ?valve abnl 21y SCA at rest ICD

? 5 5

No screen ICD KCNQ1 + KCNQ1+ KCNQ1+ 17y ICD KCNQ1 + @11y

? ? ?

died in old age, hx of syncope

d.5y

SCA Vfib SCA

? ?

ICD

  • 3. Have you constructed a complete and correct

multigenerational family pedigree? Have you tested the right family member?

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Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

  • 4. Do you have cascade testing on first

degree relatives?

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14y

MVA ‘fell asleep At the wheel’

45y 44y 16y

Sudden Cardiac Arrest CPVT RYR2 positive 55y 80y

  • d. 15y
  • d. 55y

MVA Playing outside

  • d. 32y
  • d. 22y

MVA MVA

RYR2 neg.

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Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

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

  • 6. Consider Comprehensive Arrhythmia

Panel? CPVT vs LQTS

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Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

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

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

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

Ultimately …. In the absence of a positive genotype …

Confirm a correct clinical diagnosis

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Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

Ultimately …..

When uncertain regarding diagnosis will you:

Underdiagnose?

  • Under-test
  • Under-treat
  • Under-restrict
  • Under-worry
  • ? Under-protect from SCA

Overdiagnose?

  • Over-test
  • Over-treat
  • Over-restrict
  • Over-worry
  • Better protected from SCA
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Children’s Healthcare of Atlanta | Sibley Heart Center Cardiology

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