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Heart Centre
Long QT syndrome !Should we treat all
asymptomatic patients? !!
Venice Arrhythmia 2015!Arthur A.M. Wilde
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NO CONFLICT OF INTEREST TO
DECLARE
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Long QT Syndrome(s) ♥ Autosomal dominant/autosomal rec. ♥ genetically heterogeneous ♥ 16 genes (LQTS1-16) ♥ ≥ 60% genotyped (≥ 90% in families) ♥ gene-specific features
Heart Centre
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Moss and Goldenberg JACC 2008
Before puberty LQT1 (males), after puberty LQT2 (females)?
Risk of syncope/ACA/SCD in LQTS population: !(age 1 through 75 yrs)
30%
8%
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♥ Aborted sudden death
♥ Syncope
♥ congenital deafness (JLN)
♥ Torsades de Pointes, T-wave alternans
♥ Prolonged QT (> 500ms)
♥ Family history of (a)SCD not
Established risk factors
Heart Centre
Long QT syndrome, risk stratification
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Congenital LQTS Symptomatology
Heart Centre
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♥ Aborted sudden death
♥ Syncope
♥ congenital deafness (JLN)
♥ Torsades de Pointes, T-wave alternans
♥ Prolonged QT (> 500ms)
♥ Family history of (a)SCD not
Established risk factors
Heart Centre
Long QT syndrome, risk stratification
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♥ Aborted sudden death
♥ Syncope
♥ congenital deafness (JLN)
♥ Torsades de Pointes, T-wave alternans
♥ Prolonged QT (> 500ms)
♥ Family history of (a)SCD not
Established risk factors, Asymptomatic pts
Heart Centre
Long QT syndrome, risk stratification
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Neonate, prenatal bradycardia, hydrops, syndactyly.
A patient at risk
Courtesy Dr Nico Blom
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Female 6y old, syncopal attacks, sensorinal bilateral deafness
Jervell Lange-Nielsen Syndrome
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ardiologieNEJM 2003;348:1866-74
QTC Quartiles:1: ≤ 446 ms2: 447 - 468 ms3: 469 - 498 ms4: ≥ 499 ms
Long QT syndrome, risk stratification
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Long QT syndrome, role of genetics
Heart Centre
Genetic ‘real estate’: ♥ Transmembrane LQTS2 mutations ♥ Missense LQTS1 mutations ♥ Specific LQTS1 mutations (e.g. A341V) ♥ Large variation in LQT3
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Heart Centre
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14
LQTS1&2
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Heart Centre
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QTc ≤ 440ms
QTc > 441ms
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Long QT Syndrome
Class ICD RecommendationsClass I ICD implantation is recommended for patients with a diagnosis of
LQTS who are survivors of a cardiac arrestClass IIa IICD implantation can be useful in patients with a diagnosis of LQTS
who experience recurrent syncopal events while on beta-blocker therapy.
Class III Except under special circumstances, ICD implantation is not indicated in asymptomatic LQTS patients who have not been tried on beta-blocker therapy
Family history is NOT a risk factor
Heart Centre
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♥ JLNS patient with a long QTc (>500msec)
♥ LQT2 pt with QTc > 550
♥ LQT3 pt with QTc > 500
♥ Torsades de Pointes, T-wave alternans
♥ rarely LQT1!
♥ Family history of (a)SCD is not a riskfactor
When should an ICD be considered?
Heart Centre
Long QT syndrome, asymptomatic pt
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Class Beta-blocker RecommendationsClass I Beta-blockers are recommended for patients with a diagnosis of
LQTS who are:• Asymptomatic with QTc > 470 ms, and/or• Symptomatic for syncope or documented VT/VF .
Class IIa Beta-blockers can be useful in patients with a diagnosis of LQTS who are asymptomatic with QTc < 470ms
Heart Centre
But in who treatment is not needed?
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Long QT syndrome, focus on LQT1
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Moss, Shimizu, Wilde et al. Circulation 2007
Long QT syndrome, focus on LQT1
Heart Centre
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KCNQ1 A341V versus other KCNQ1 mutations
Long QT syndrome, focus on LQT1
Crotti et al, Circulation 2007 Heart Centre
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Circulation 2002;105:794-9
LQTS2
Mutation dependent prognosis (LQTS2)
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Class Beta-blocker RecommendationsClass I Beta-blockers are recommended for patients with a diagnosis of
LQTS who are:• Asymptomatic with QTc > 470 ms, and/or• Symptomatic for syncope or documented VT/VF .
Class IIa Beta-blockers can be useful in patients with a diagnosis of LQTS who are asymptomatic with QTc < 470ms
Heart Centre
Low risk: asymptomatic LQT1 adult (QTc < 500?)
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Class Beta-blocker RecommendationsClass I Beta-blockers are recommended for patients with a diagnosis of
LQTS who are:• Asymptomatic with QTc > 470 ms, and/or• Symptomatic for syncope or documented VT/VF .
Class IIa Beta-blockers can be useful in patients with a diagnosis of LQTS who are asymptomatic with QTc < 470ms
Heart Centre
Low risk: asymptomatic LQT1 adult (QTc < 500?)
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(Circulation 2008;117:2184-2191)
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Figure 1. Kaplan–Meier estimates of the probability of ACA or SCD by gender (values in parentheses are event rates).
Goldenberg I et al. Circulation 2008;117:2184-2191
Copyright © American Heart Association
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Figure 2. Kaplan–Meier estimates of the probability of ACA or SCD by gender and QTc subgroups (values in parentheses are event rates).
Goldenberg I et al. Circulation 2008;117:2184-2191
Copyright © American Heart Association
LQTS1
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For information and registration see www.20yrsCG.nl
Organising committee:Karin Y. van Spaendonck
J. Peter van TintelenArthur Wilde
20years
cardiogeneticsin the Netherlands
Amsterdam, the NetherlandsDecember 4th 2015
www.20yrsCG.nl
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Thank you
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at LONDON HEALTH SCIENCES CENTER on March 29, 2012http://circ.ahajournals.org/Downloaded from
Barsheshet ea, Circulation. 2012;125:1988-96.
PKA
Beta Adrenergic
Mutations sites in the KCNQ1 gene
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JAMA 2006;296:1249-1254
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JAMA 2006;296:1249-1254
Risk during adolescence (10-20y) ♥ 2772 children followed between 10 and 20y ♥ 81 ACA and 45 SCD (4,5%) ♥ risk factors: syncope, QTc and gender
(10-12)
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LQTS 1
LQTS 2
LQTS 3
Does the genotype matter?