HYPERTROPHIC CARDIOMYOPATHY RISK STRATIFICATION WHAT IS NEW?
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1 HYPERTROPHIC CARDIOMYOPATHY RISK STRATIFICATION WHAT IS NEW? Division of Inherited Cardiac Diseases Heart Center for the Young and Athletes A Dpt of Cardiology University of Athens
2 LANCET 2013
3 ESC HCM GUIDELINES 2014
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5 ESC HCM 2014 Pedigree Symptoms Physical exam ECG Laboratory Echo/MRI Other Autsomal dominant Autosomal recessive X-linked-Dystrophin, Danon. Maternal Deafness (AFD, Epicardin) Muscle pains/weakness (Dystrophin) Paraesthesia Muscle weakness Postural hypotension Rash (lentigenes, angiokeratomata) Ocular Premature conduction disease Pseudo-infarct pattern Creatinine kinase (dystrophic, Danon, Desmin) Serum creatinine Proteinuria Ferritin Lactate Pattern of hypertrophy Valve disease Pericardial effusion Pattern of gadolinium hyperenhancement Exercise test: premature acidosis Endomyocardial biops GENETICSy
6 HCM- FABRY DISEASE angiokeratoma PREECXITATION LAB TEST PROTEINOURIA A GALACTOSIDASE 3 8 y 8 3 Α y ρρ 3 υθ 7 μί y ες 67 y AF- ΑΕΕ- 60 Θάνα y τος PA 83y F- M R- AY AY Σ Ν AY 8 3 y INHERITANCE GENETICS CONCENTRIC MILD LVH LYMPHOEDEMA
7 Network for INHERITED CARDIAC DISEASES and SCD prevention in the Young INHERITED CV DISEASES SD FAMILIES ATHLETES Clinical Cardiology MOLECULAR CARDIOLOGY FAMILY SCREENING Genetics TYPICAL DISEASE SUBCLINICAL DISEASE GENE CARRIER
8 HCM MANAGEMENT DIAGNOSIS RISK STRATIFICATION CLINICAL EXAM MULTI PARAMETRIC ECG ECHO MRI EXERCISE ECHO GENETICS 48 H HOLTER C/P EXERCISE TEST CARDIAC MRI AND LGE HCM GUIDELINES 2014 F/U EVERY YEAR
9 HCM RISK STRATIFICATION
10 ESC/AHA GUIDELINES IN HCM 2003
11 THE COMPLEXITY OF PATHOPHYSIOLOGY OF SUDDEN CARDIAC DEATH IN HCM FAMILY HISTORY GENETIC SUBSTRATE ABPR VASCULAR INSTANBILITY,OR/AND LOW CARDIAC OUTPUT NSVT ARRHYTHMOGENIC SUBSTRATE SYNCOPE ABNORMAL VASCULAR RESPONSES, LVOT, ARRHYTHMOGENIC SUBSTRATE SEVERE LVH - ISHAEMIA
12 CONVENTIONAL Risk Factors for Sudden Death in Hypertrophic Cardiomyopathy Conventional Prior cardiac arrest Unexplained syncope Family history of premature SCD LV wall thickness 30mm Abnormal blood pressure response to exercise Nonsustained spontaneous ventricular tachycardia Possible in Individual ELLIOTT et al Patients LANCET 2001 LV outflow tract obstruction Extensive late gadolinium enhancement on MRI Myocardial ischemia Specific mutations Intense physical exertion (in individual patients) Atrial fibrillation ICD: 2 RISK FACTORS OR MORE
13 HYPERTROPHIC CARDIOMYOPATHY SUDDEN DEATH
14 SCD IN HCM Spirito P Magnitude of left ventricular hypertrophy and risk of sudden death in hypertrophic cardiomyopathy. N Engl J Med 2000; 342: RISK RATIO 3,10 CI:1,81-4,40 BE AWARE OF THE TYPE OF LVH
15 HCM RISK STRATIFICATION NSVT IN THE YOUNG HAZART RATIO 4,35 CI:1.,54-12,28 MONSSERATT et al., JACC 2003
16 Exercise-induced ventricular arrhythmias and risk of sudden cardiac death in patients with hypertrophic cardiomyopathy Jimeno et al., Eur Heart J Nov;30(21):2595
17 SYNCOPE Risk of sudden death in relation to age and temporal proximity of unexplained syncope to initial evaluation Spirito, P. et al. Circulation 2009;119:1703 HAZART RATIO 2.68 CI ,38 Copyright 2009 American Heart Association
18 SCD IN THE FAMILY Am J Cardiol 2010;106: SCD IN HCM Circulation 2013 RISK RATIO 1.27 ( 95% CI:1,16-1,38)
19 ABNORMAL BP RESPONSE SCD IN HCM Elliott PMet al. Sudden death in hypertrophic cardiomyopathy: identification of high risk patients. J Am Coll Cardiol 2000; 36 RISK RATIO 1,30 95% CI: 0,64-1,96 The prognostic significance of ABPR in pts >50 y age is not known
20 ICD IN HCM ONE RISK FACTOR IS ENOUGH Maron BJ, Spirito P, Shen WK, et al. Implantable cardioverter-defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy. JAMA 2007; 298:
21 AHA 2011
22 HCM SCD ACCF/AHA 2011 HCM END STAGE WITH SYSTOLIC DYSFUNCTION
23 HCM APICAL ANEURYSM HCM- AHA 2011
24
25 Left ventricular outflow tract obstruction (LVOTO) and risk of SD / ICD The increased risk of SD/ICD depends on: the severity of obstruction the presence of other risk factors for SD Asymptomatic patients with HOCM and no other SD risk factors are at low risk. Elliott PM et al., European Heart Journal (2006) 27,
26 CARDIAC MRI GADOLINIUM Delayed enhanced CMR horizontal long-axis (A, B, and C) and short-axis (D, E, and F) images from 3 ES patients Harris, K. M. et al. Circulation 2006;114: Copyright 2006 American Heart Association
27 GUIDELINES 2014 MRI IN HCM LGE AND PROGNOSIS (MODIFIER) RELATION WITH MORTALITY BUT NOT WITH SCD
28 MRI IN HCM GUIDELINES 2014 CMR IN HCM 2 STANDAR DEVIATION TECHNIC LGE>15-20% SIGNIFICANT B MARON 2014
29 AHA 2011
30 PPV NOT SATISFACTORY
31
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33 Annual sudden cardiac death (SCD)/appropriate implantable cardioverter defibrillator (ICD) shocks rates and the absolute number events in relation to the 2003 American College of Cardiology/European Society of Cardiology (ACC/ESC) risk factor profile. 4/10 7/51 28/249 30/636 20/660 O'Mahony C et al. Heart 2013;99: Copyright BMJ Publishing Group Ltd & British Cardiovascular Society. All rights reserved.
34
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36 O'Mahony C et al. Heart 2013;99:
37
38 O'Mahony C et al. Heart 2013;99:
39 New HCM risk model individualized prognostic information Eur Heart J 2013
40 New HCM risk model BY HCM OUTCOMES INVESTIGATORS CURRENT MODEL AHA 2011 : Low positive predictive accuracy NEW MODEL Predictors to estimate individual propability of SCD at 5 years Age Lvwmax LA LVOT gr FHSCD Unexplained syncope NSVT Eur Heart J 2013
41 ESC GUIDELINES IN HCM 2014
42 Pt characteristic Coefficient Age 56-0,018 HCM SCD RISK MODE 2013 MWT 20 0,159-0,003 LA 40 0,026 Do not change the yellow cells LVOTO 40 0,004 Enter pt characterisitcs in red cells FHSCD 0 0,458 NSVT 1 0,826 Syncope 0 0,717 PI 2,998 Survival 0, SCD at 5y 3, ESC GUIDELINES IN HCM 2014
43 Pt characteristic Coefficient Age 16-0,018 MWT 20 0,159-0,003 HCM SCD RISK MODE 2013 LA 40 0,026 Do not change the yellow cells LVOTO 40 0,004 Enter pt characterisitcs in red cells FHSCD 0 0,458 NSVT 1 0,826 Syncope 0 0,717 PI 3,718 Survival 0, ESC GUIDELINES IN HCM 2014 SCD at 5y 7,
44 Pt characteristic Coefficient Age 15-0,018 MWT 30 0,159-0,003 LA 47 0,026 Do not change the yellow cells LVOTO 90 0,004 Enter pt characterisitcs in red cells FHSCD 0 0,458 NSVT 0 0,826 Syncope 0 0,717 PI 3,382 Survival 0, SCD at 5y 5,
45 CALCULATOR Pt characteristic Coefficient Age 55-0,018 MWT 30 0,159-0,003 LA 45 0,026 Do not change the yellow cells LVOTO 100 0,004 Enter pt characterisitcs in red cells FHSCD 0 0,458 NSVT 0 0,826 Syncope 0 0,717 PI 2,65 Survival 0, SCD at 5y 2,
46 ARBITRATORS ESC GUIDELINES IN HCM 2014 MRI LGE APICAL ANUERYSM EF <50% DOUBLE MUTATION ABPR EPS?
47 CORONARY ANGIOGRAPHY HCM ESC 2014 CARDIAC ARREST, VT, SEVERE ANGINA CCS>3 ANGINA PLUS RISK FACTORS OF IHD CCS<3 IIA BEFORE SEPTAL REDUCTION THERAPY
48 MAJOR PAEDIATRIC RISK FACTORS LVH.30 OR Z SCORE >6 UNEXPLAINED SYNCOPE NSVT FHSD ESC HCM 2014
49 B BLOCKERS OR AMIO SUBCUTANEUS ICD
50 Normal Gene carriers Normal ECHO LOW RISK Normal ECG Athletic activity????? u USA - EU
51 Inherited cardiovascular diseases in the every day clinical practice: diagnostic yield and genetic family screening. Anastasakis et al ESC 2012 HCM ARVC DCM (LMNA) Positive probands (%) 13/18(72.2%) 23/46(50%) 2/3(66.7%) No of relatives from positive probands (Range per family) Mut(+)Phen(+)% (of total fam members) Mut(+)Phen(-)% (of total fam members) Mut(-)Phen(-)% (of total fam members) 52 (0-10) 79 (0-12) 6 (3) 23.1% 15.2% 67.0% 26.9% 39.2% 0.0% 50.0% 45.6% 33.0%
52 Network for INHERITED CARDIAC DISEASES CLINICOGENETIC APPROACH INHERITED CV DISEASES SD FAMILIES ATHLETES Clinical Cardiology MOLECULAR CARDIOLOGY FAMILY SCREENING Genetics TYPICAL DISEASE SUBCLINICAL DISEASE GENE CARRIER
53 TAKE HOME MESSAGE HCM risk stratification DIAGNOSIS : MULTIFACTORIAL GENETIC TESTING IS RECOMMENDED 48 h HOLTER EXERCISE ECHO Normal gene carriers seem safe ICD in HCM: one risk factor is enough (?) BUT THE PPV IS NOT SATISFACTORY HCM ESC 2014 GUIDELINES 2014 HCM risk formula : a better tool INTERMEDIATE RISK : REMAINS PROBLEMATIC EPS?
54
HCM GUIDELINES ESC 2014 HYPERTROPHIC CARDIOMYOPATHY ASYMPTOMATIC PATIENT
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