What s new in Hypertrophic Cardiomyopathy?
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1 What s new in Hypertrophic Cardiomyopathy? Dr Andris Ellims HCM The Alfred
2 Hypertrophic Cardiomyopathy = otherwise unexplained LV hypertrophy* 1 in 500 prevalence most common inherited cardiovascular disease autosomal dominant inheritance 50% of 1 st - degree relatives are at risk
3 NORMAL HCM
4 Genetics & HCM
5 Clinical Manifestations often asymptomatic presence of Sxs is a/w worse outcomes exertional dyspnoea chest pain presyncope / syncope palpitations
6 Complications Arrhythmia End-stage heart failure 1-3% Death 1% annual mortality rate
7
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9 Maron et al. Circulation 2013.
10 MYOCARDIAL FIBROSIS REGIONAL area of dense fibrosis adjacent to normal myocardium a/w risk of arrhythmia evaluated by Cardiac MRI with Late Gadolinium Enhancement (LGE) Kim et al. Circulation
11 Late Gadolinium Enhancement in HCM
12 MYOCARDIAL FIBROSIS DIFFUSE fibrosis throughout myocardium no normal myocardium a/w diastolic dysfunction evaluated by Cardiac MRI with T 1 mapping
13 T 1 Mapping in HCM - ROI
14 MORE DIFFUSE FIBROSIS Ellims et al. JCMR 2012.
15
16 Diffuse Myocardial Fibrosis & VT 100 patients with HCM Cardiac MRI, 24/24 Holter monitor Ventricular tachycardia (VT) vs. No VT More regional myocardial fibrosis (by LGE) More diffuse myocardial fibrosis (by T 1 time) Multivariate Analysis Predictors of VT Septal thickness Diffuse myocardial fibrosis (by T 1 time)
17 Management Education Lifestyle modification ± Pharmacotherapy ± Septal reduction therapy ± Defibrillator Family screening
18 Management Education Lifestyle modification ± Pharmacotherapy ± Septal reduction therapy ± Defibrillator Family screening
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21 Management Education Lifestyle modification ± Pharmacotherapy ± Septal reduction therapy ± Defibrillator Family screening
22 Anti-Fibrotic Therapy in HCM The Alfred Hospital Professor Andrew Taylor / Dr Leah Iles Placebo-controlled, double blind prospective study 80 HCM patients Eplerenone (mineralocorticoid antagonist) vs. placebo Cardiac MRI at baseline & after 12 months?effect of eplerenone on quantity of myocardial fibrosis Commenced in 2016
23 Management Education Lifestyle modification ± Pharmacotherapy ± Septal reduction therapy ± Defibrillator Family screening
24 Septal Reduction Therapy severe symptoms despite optimal medical therapy* and severe ( 50 mmhg) resting or provocable LVOT obstruction * includes -blockers and/or verapamil correction of exacerbating factors (inc. vasodilators, anaemia, excessive weight, dehydration)
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27 Which Technique? Favour Myectomy Favour Ablation Age younger older Operative Risk lower higher Septal Thickness greater smaller Mitral Valve Disease Coronary Artery Disease Patient Preference
28
29 Results 1197 patients underwent ASA Young ( 50) Middle-aged (51-64) Older ( 65) 30 Day Mortality 0.2% (young) vs. 2% (older) p = 0.03 Pacemaker Implantation 8% (young) vs. 16% (older) p < 0.001
30 Management Education Lifestyle modification ± Pharmacotherapy ± Septal reduction therapy ± Defibrillator Family screening
31 Risk of Sudden Cardiac Death Major Risk Factors Survivor of cardiac arrest LV wall thickness >30mm FHx of premature sudden cardiac death Unexplained syncope Non-sustained ventricular tachycardia 2016 CSANZ HCM Guidelines
32
33 HCM Risk Score - Validation HCM-EVIDENCE Study 3703 HCM patients Sudden cardiac arrest (5y follow-up) Low-risk 1.4% High-risk 8.9% O Mahony et al. ESC Congress 2017.
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36 Prognosis by LGE Quantity Chan et al. Circulation 2014.
37 Management Education Lifestyle modification ± Pharmacotherapy ± Septal reduction therapy ± Defibrillator Family screening
38 Family Screening for HCM all 1 st -degree relatives examination + ECG + echocardiogram Age Frequency of Screening 0 11 Optional yearly yearly > yearly 2016 CSANZ HCM Guidelines
39 Genetic Testing in HCM Pre-Test Genetic Counselling Royal Melbourne Hospital s Cardiac Genetics Clinic Genetic Testing Site Melbourne (VCGS): 34 genes: $1,800 AUD Mutation Detection Rate FHx of HCM: ~75% No FHx of HCM: ~45%
40 Maron et al. Genetics of HCM after 20 years. JACC: 2012.
41 Genotype +ve, Phenotype ve HCM Unresolved Issues Eligibility for competitive sport? USA: no exclusion Europe: exclusion Defibrillator for primary prevention? Consider if FHx of sudden death Long-term prognosis?
42 Pregnancy in HCM Pregnancy-associated physiological cardiovascular changes may exacerbate HCM-related complications Arrhythmia Heart failure Sudden cardiac death Previous studies have reported varying rates of cardiovascular complications in pregnancy with HCM 2-48% Retrospective studies with small subject numbers
43 Pregnancy in HCM Several patients of mine were advised against pregnancy by previous cardiologists due to their condition
44
45 Results Primary Endpoint (at 1/52 post-delivery) 14 of 60 patients (23%) Heart failure: 9 of 60 SVT or VT: 7 of 60 Thrombo-embolic event: Maternal death: Nil Nil
46
47 Discussion Most women with HCM have a successful pregnancy Pre-pregnancy functional status (NYHA >1) and signs of heart failure were associated with MACE
48 HCM The Future Increasing role of Cardiac MRI Optimising risk assessment Specialised clinical centres (inc. septal reduction) Expanding genetic registries Disease-modifying therapies (esp. anti-fibrotics)
49 Any Questions?
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