CHANNELOPATHIES IS GENETIC TESTING ESSENTIAL IN PTS MANAGEMENT
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1 CHANNELOPATHIES IS GENETIC TESTING ESSENTIAL IN PTS MANAGEMENT Inherited and Rare Cardiac Diseases Unit Heart Center for the Young and Athletes ONASSIS CARDIAC SURGERY CENTRE
2 DIAGNOSIS ION CHANNEL DISEASE RISK STRATIFICATION TREATMENT FAMILY SCREENING NEXT GENERATION
3 SD? 15-20y? 80y? SD? 15-20y Ca 65y?? SD? 45y Tuberculosis 39y SD 55y 79y QTc prolongation 58y 56y TdP - ICD = Normal individual 25y 20y - NSVT = LQT syndrome = Subclinical LQT syndrome + = Genetically tested individual mutation positive Case LQTS
4 Proband 55y female ECG QTc : 530msec
5 PROBAND 55 Y FEMALE SYNCOPE ICD
6 BROTHER Clinical features Asymptomatic prolonged QTc :520msec and preecxitation
7 NEPHEW Clinical features Asymptomatic boarder line QTc :450msec interval
8 NIECE DANCER Clinical features Asymptomatic boarder line QTc: msec interval
9 GENETIC FAMILY SCREENING SD? 15-20y? 80y? SD? 15-20y Ca 65y?? SD? 45y Tuberculosis 39y SD 55y 58y y QTc prolongation y TdP - ICD = Normal individual 25y 20y = LQT syndrome = Subclinical LQT syndrome + = Genetically tested individual mutation positive
10 RECOMMENDATIONS for normal gene carriers It is reasonable for an asymptomatic athlete with genotype-positive/phenotype-negative (i.e., concealed channelopathy) to participate in all competitive sports with appropriate precautionary measures CLASS IIa, Level of evidence C AHA 2015
11 INDIVIDUAL WITH SUBCLINICAL LQTS NIECE Personal history B BLOCKER Asymptomatic Boarder line QTc interval (QTc = msec) on resting ECG Carrier of pathogenic mutation g3207c>g in the KCNH2 gene According to Schwartz criteria, she presents 3 clinical points : 1. QTc : 460 msec --> 2 points 2. Family history of LQTS --> 1 point 5 y F/U MUTATION CARRIER SUBCLINICAL PAROXYSMAL NOCTURAL DYSPNOEA- NIGHTMARES
12 NIGHTMARES
13 SD? 15-20y? 80y? SD? 15-20y Ca 65y?? SD? 45y Tuberculosis 39y SD 55y + 79y QTc prolongation y y TdP - ICD = Normal individual 25y 20y - NSVT = LQT syndrome = Subclinical LQT syndrome + = Genetically tested individual mutation positive
14 LQTS : RISK EVALUATION
15 RISK STRATIFICATION IN LQTS GENE AND GENDER QTc 500 msec LQT1, LQT2 LQT3, ανδρικό φύλο QTc<500 FEMALE LQT2 QTc< 500 msec LQT2, LQT3, γυναικείο φύλο LQT3, ανδρικό φύλο QTc 500 msec LQT3, γυναικείο φύλο QTc< 500 msec LQT2, ανδρικό φύλο LQT1 Priori SG, Schwartz PJ, Napolitano C et al. Risk stratification in the Long QT Syndrome. N Engl J Med 2003; 348:
16 NIECE - UPDATED FEATURES At present, according to Schwartz criteria: 5 points 1.QTc : msec --> 2 points 2.Family history of LQTS --> 1 point 3.Τorsades des pointes -> 2 points Risk stratification: Female Detection of pathogenic mutation in the KCNH2 gene (LQTS2). SYMPTOMATIC NSVT despite b blockers therapy HIGH RISK PATIENT - RECEIVED ICD
17 HARPER et al UCLH 2012 Preimplantation diagnosis
18 CPVT
19 IHD 75y SUDDEN DEATH Family >80y LD LD LG LG LE SD 5y PG 37y PD SD 17y SD 13y 8.5y 11y Pts SYNCOPAL EPISODES TWO SUDDEN DEATHS IN THE FAMILY UNKNOWN CAUSE SUDDEN DEATH r NO STRUCTURAL ABNORMALITY
20 ECG ECHO - CMR HOLTER 24 H S A ECG EPS EVALUATION EXERCISE STRESS TEST TWO BROTHERS - POST MORTEM = UNKNOWN CAUSE SCD
21
22
23
24 CPVT PHYSICAL ACTIVITY ACUTE EMOTION NORMAL RESTING ECG OR SINUS BRADY STRUCTURAL CARDIAC ABNORMALITY (-) FSCD CARDIAC ARREST FIRST MANIFESTATION (15%) INDUCED BY EXERCISE STRESS TEST NOT INDUCED BY EPS VT STIM MOST TYPICAL ARRHYTMIA BYDIRECTIONAL VT Sudden cardiac death S Priori,D Zipes The ESC education series 2006
25 IHD 75y Family >80y LD LD LG LG LE SD 5y PG 37y PD SD 17y SD 13y 8.5y 11y Genetically tested individuals RyR2 MUTATION -> exon 48: I2409N/g600930T>A = Healthy person = Typical CPVT RyR2 I2409N/g600930T>A Causative mutation = Mutation carrier = Possible CPVT Syncopal episodes and SCD during emotional stress = History of syncopal episodes
26 IHD 75y Family >80y LD LD LG LG LE SD 5y PG 37y PD SD 17y SD 13y 8.5y 11y CLINICOGENETIC APPROACH r
27 IHD 75y Family >80y LD LD LG LG LE SD 5y PG 37y PD SD 17y SD 13y 8.5y 11y Genetically tested individuals RyR2 MUTATION -> exon 48: I2409N/g600930T>A F/U = Healthy person = Typical CPVT = Mutation carrier = Possible CPVT Syncopal episodes and SCD during emotional stress = History of syncopal episodes
28 SON
29 THE DAUGHTER ON NADOLOL
30 THE DAUGHTER s F/U
31 HARPER et al UCLH 2012 Preimplantation diagnosis
32 2015 Conclusions Our data show that clinical genetic diagnosis is justified in a family perspective for confirmation of genetic causality. In the era of personalized medicine using high-throughput tools, clinical decision-making is increasingly complex.
33
34 Take Home Message Cascade screening forcefully demonstrates that molecular biology and genetics can no longer be regarded as tools for researchers, but nowadays represent an essential component of good medical care.
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