SADS 101 Peter Aziz MD, FHRS Director, Inherited Arrhythmia Clinic - - PowerPoint PPT Presentation

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SADS 101 Peter Aziz MD, FHRS Director, Inherited Arrhythmia Clinic - - PowerPoint PPT Presentation

Nov 05, 2023 281 likes •588 views

SADS 101 Peter Aziz MD, FHRS Director, Inherited Arrhythmia Clinic Cleveland Clinic Childrens No Disclosures The Channelopathy Timeline 1889 1 st recorded channelopathic death - J-LN 1960s Romano and Ward describe LQTS

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SADS 101

Peter Aziz MD, FHRS Director, Inherited Arrhythmia Clinic Cleveland Clinic Children’s

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No Disclosures

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The Channelopathy Timeline

  • 1889 – 1st recorded channelopathic death - J-LN
  • 1960s – Romano and Ward describe LQTS
  • 1986 – 1st BrS patient identified
  • 1991 – Keating identifies LQTS genetic location
  • 2000 – SQTS identified
  • 1995-present – Genetic data translated to

bedside

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The Conduction System

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The Ion Orchestra

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Case Presentation

21yo soccer player with syncope

QTc = 540ms

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Long QT Syndrome

  • Leading cause of autopsy-negative

sudden death

  • 1000/year in the US
  • Mostly young children
  • Hallmark presentation:
  • Syncope – NO prodrome
  • Hallmark arrhythmia:
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Long QT Syndrome

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Defective Ion Channels Causes QT Prolongation

K+

K+

Q Q T T

  • 80mV

+40mV

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Epidemiology of LQTS

  • Equally present in all races and ethnic

groups

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Estimated Prevalence of LQTS

  • Prevalence among white patients
  • 17/43,080 = 1:2534
  •  Most common and most studied ion

channelopathy

  • Natural history
  • Treatment
  • Genotype:phenotype correlation
  • Risk stratification

Schwartz, Circulation 2009

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Long QT Classification

  • 16 genotypes have been identified
  • Three are the most common forms:
  • LQT1
  • LQT2
  • LQT3
  • Remaining genotypes account for 5%
  • 20% remain genetically elusive

75% of LQTS

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Cornerstones of Therapy

Trigger Modification

Schwartz, JACC 2013

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Trigger Avoidance

  • LQT1
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Trigger Avoidance

  • LQT2
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Trigger Avoidance

  • LQT3
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Cornerstone of Therapy

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Case Presentation #2

  • 14yo with multiple syncopal events
  • First occurred at age 6 while chasing

the ice cream truck

  • Exercise Stress Test
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Cathecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

  • SCD in the setting of emotional or physical stress
  • Smells like long QT, but the ECG is normal
  • Exercise stress test is the key
  • Frequent extra ventricular beats (PVCs)
  • 30% will have at least 1 cardiac arrest
  • 80% will have at least 1 syncopal event
  • Estimated prevalence
  • 1:10000
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Cathecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

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Gene Protein Proportion of CPVT (%) Inheritance Pattern RYR2 Ryanodine 50-55 AD CASQ2 Calsequestrin 2-5 AR CALM1 Calmodulin <1 AD TRDN Triadin Unknown AR

Cathecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

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Cathecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Treatment

± Flecainide ±

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Case #4

10yo with Syncope at Rest

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Brugada Syndrome

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Brugada Syndrome

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Treatment of Brugada Syndrome

  • Patients at risk
  • Prior syncope
  • Those with BrS pattern at rest

Internal Cardioverter Defibrillator (ICD)

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SADS 101 Summary

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Questions?

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