Successfully reported this slideshow.
We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. You can change your ad preferences anytime.
Hypertrophic Cardiomyopathy
2016 Update
Thomas M. Bashore MD
Professor of Medicine
Senior Vice Chief, Duke Medical Center
Duke Heart Center
The Anxious Anticipation
Duke Heart Center Sports Illustrated, 2008
The Last Thing One Expects
Duke Heart Center
The Issue:
Sudden Death in Young Athletes
Circulation 2011;124:2761-2766
HCM:
About 1 in 500 births
(0.2...
Duke Heart Center
Outline
• Genetics and Genetic Testing
• Diagnosis of HCM
• Differentiating from HBP or Athlete’s Heart
...
Duke Heart Center
Genetics of HCM
Autosomal dominant disease caused by mutations in one of 11 cardiac sarcomere or adjacen...
Duke Heart Center
Role of Genetic Testing of Patient
• Can identify 50-60% of patients with HCM
phenotype. Occasionally id...
Duke Heart Center
Role of Testing in Relatives
• Genetic Testing if possible
• Echo in preadolescence if interested in
com...
Duke Heart Center
Clinical Diagnosis of HCM
• In Adults: One or more LV myocardial segments 15 mm or
more in thickness
• I...
Duke Heart Center
Classic Echocardiographic Findings
Hypertrophic Cardiomyopathy
If present:
• Class 1 (LOE B)
– Serial Ec...
Duke Heart Center
Outflow Gradient at Rest and with Valsalva
When LV Outflow Tract Obstruction Present
Resting Intraventri...
Duke Heart Center
ECG in HCM
Prominent septal forces
Duke Heart Center
ECG in Apical HCM
Duke Heart Center
MRI Findings of
Hypertrophic Segmental Location
Ao
LV
LA
RV
LV
Marked Septal Hypertrophy
Duke Heart Center
MRI Finding of Hypertrophic Location
Mid-ventricular HCM Apical HCM
Duke Heart Center
septum *
LV
LA
RV
LV
*
*
RV
*LV
LA
LA
LA
RA
RV
**
RV
Septal Sigmoid Septum Apical
Mid VentricularBasal s...
Duke Heart Center
Location, Location, Location
A Better Prognosis if Nonobstructive
Maron MS et al. JACC 2016;67:1399-1409...
Duke Heart Center
MRI Assessment
Anatomy Myocardial Perfusion
Abnormaliities
Late Gadolinium
Enhancement (Scar)
RV Attachm...
Duke Heart Center
Arrhythmogenic Substrate
Disarray of
hypertrophied
muscle cells in thickened area
Maron BJ et al JACC 19...
Duke Heart Center
Degree of MRI Hyperenhancement
and Sudden Death Risk
Chan RH et al. Circ 2014;130:484-495
Varying degree...
Duke Heart Center
Differentiating Hypertensive Heart
Disease from HCM
• Favor Hypertension
– Normal ECG or LVH by voltage ...
Duke Heart Center
Differentiating Athlete’s Heart
from HCM
Former Professional
Basketball Player
Duke Heart Center
Specific Sports Training Effects on
Heart Size and Wall Thickness
Prog CV Dis 2012;54:387
Duke Heart Center
Normal Athlete Heart Sizes
LV End-diastolic
Dimensions
LA Sizes
Max. Wall
Thickness
Prog CV Dis 2012;54:...
Duke Heart Center
Differentiating Athlete’s Heart from HCM
Modified from Heart 2005;91:1380
HCM Athlete’s
Heart
Grey Zone
...
Duke Heart Center
Echo Tissue Doppler and Strain Analysis in HCM vs Athletes
Int J CV Imaging 2011;27:91
Abnormal Diastoli...
Duke Heart Center
Competitive Sports
Recommendations
• As a generality, those identified with the HCM
phenotype should not...
Duke Heart Center
Recommendations for Noncompetitive
Sports in HCM Patients
• High Intensity
– Not advised: Basketball,bod...
Duke Heart Center
Recommendations for
Therapeutic Options in HCM
• Atrial Fibrillation/Flutter- up to 25%. NOT associated ...
Duke Heart Center
End-stage Cardiomyopathy in HCM
• About 5% develop “burned out” phase
• EF <50
• Predictors:
– Family hi...
Duke Heart Center
Clinical Features Associated with
Increased Risk of Sudden Cardiac Death
• Age: Increased risk in younge...
Duke Heart Center
SCD Risk Prediction Models
• HCM Risk-SCD Prediction Model:
– Probability of SCD at 5 years= 1- 0.998(Pr...
Duke Heart Center
ESC Prediction Model for Sudden Death
O’Malony C, et al. Eur Heart J 2014;35:2010
0-2% 2-4% 4-6% >6%
htt...
Duke Heart Center
Recommendations for prevention of
SCD in HCM
• Class 1 (LOE C): Avoidance of competitive sports
• Class ...
Duke Heart Center
Recommendations for ICD Use in HOCM-
ESC Risk Scoring System and AHA/ACC Algorithm
Eur Heart J 2014; 35:...
Duke Heart Center
Critique of ESC Risk Calculator
• 1629 pts >16 years of age in HOCM Center of Minneapolis Heart Institut...
Duke Heart Center
Age Caveat for ICD Usage in HCM
Circulation 2013;129:585:593
HCM patients have increased mortality vs US...
Duke Heart Center
Slight Advantage of Surgical Myectomy vs Medical
Therapy in Prevention of Sudden Cardiac Death
JACC Hear...
Duke Heart Center
Summary
• Most HCM has a genetic basis
• Genetic testing recommended to assess the HCM patient’s
family ...
Duke Heart Center
THANKS
Duke Heart Center
Class 1 Recommendations for Evaluation and
Following Patients with HCM
• ECG in all
• 48 hr Holter in al...
Duke Heart Center Circ Heart Fail 2012;5:552
Forest plot of annualized appropriate implantable
cardioverter defibrillator ...
Duke Heart Center
Cardiovascular abnormalities associated with sports-related sudden death in 820 subjects
among the young...
Duke Heart Center
Distribution by age of sports-related sudden deaths (SDs) in the overall population (blue) and
among you...
Duke Heart Center
Sports engaged in at the time of sudden death (SD) in 820 sports participants.
Eloi Marijon et al. Circu...
Upcoming SlideShare
Loading in …5
×

Hypertrophic Cardiomyopathy: 2016 Update

Thomas Bashore, MD
Duke University Medical Center

  • Login to see the comments

Hypertrophic Cardiomyopathy: 2016 Update

  1. 1. Hypertrophic Cardiomyopathy 2016 Update Thomas M. Bashore MD Professor of Medicine Senior Vice Chief, Duke Medical Center
  2. 2. Duke Heart Center The Anxious Anticipation
  3. 3. Duke Heart Center Sports Illustrated, 2008 The Last Thing One Expects
  4. 4. Duke Heart Center The Issue: Sudden Death in Young Athletes Circulation 2011;124:2761-2766 HCM: About 1 in 500 births (0.2%) in the U.S.
  5. 5. Duke Heart Center Outline • Genetics and Genetic Testing • Diagnosis of HCM • Differentiating from HBP or Athlete’s Heart • Overview of Treatment Options • Sudden Cardiac Death – Assessing Risk – Assessing ICD use • Recent Reviews & Guidelines: HOCM: Eur Heart J 2014;35:2733-2779 Circulation 2011;124:2761-2766 J Am Coll Cardiol 2015;66:2362-2371 Sudden Death: Eur Heart J 2015;36: 2793-2867 Circulation 2016;133:1006-1026
  6. 6. Duke Heart Center Genetics of HCM Autosomal dominant disease caused by mutations in one of 11 cardiac sarcomere or adjacent Z disc genes. 1500 individual mutations known. 90% missense. Beta-myosin Heavy Chain and Myosin-binding Protein C each account for 30-40% mutant genes followed by Troponin T at 10% Eur Heart J 2014; 35:2739
  7. 7. Duke Heart Center Role of Genetic Testing of Patient • Can identify 50-60% of patients with HCM phenotype. Occasionally identifies other causes. • Does not provide reliable risk stratification or identify high risk patients if positive for HCM. • Role in screening is to identify potential at-risk relatives for HCM if a mutation identified in a HCM patient – If no mutation in a relative: no further testing – If mutation identified in a relative: high likelihood of developing HCM and follow-up warranted Eur Heart J 2014; 35:2739
  8. 8. Duke Heart Center Role of Testing in Relatives • Genetic Testing if possible • Echo in preadolescence if interested in competitive sports • Without genetic testing, repeat echo every 5- 7 years as there is some delayed expression of HCM • If positive genetics but negative echo, repeat echo every 2-3 years during adulthood • If negative genetics- no further testing JACC 2011;58:e212-260
  9. 9. Duke Heart Center Clinical Diagnosis of HCM • In Adults: One or more LV myocardial segments 15 mm or more in thickness • In Children: Wall thickness > 2 standard deviations above mean • Dynamic Obstruction: >30 mmHg • In Relatives: One or more LV myocardial segments 13 mm or more • Challenges: – LVH in athlete’s heart caused by training – LVH due to hypertension or aortic stenosis – Isolated basal septal hypertrophy in the elderly – Severe LVH due to infiltrative diseases – Apical HCM compared to LV noncompaction – Late stage wall thinning
  10. 10. Duke Heart Center Classic Echocardiographic Findings Hypertrophic Cardiomyopathy If present: • Class 1 (LOE B) – Serial Echo/ECG/Exam every 12-18 months in children and adolescents. Every 5 years in adults. • Class IIa (LOE C) – Holter for palpitations Circulation 2011;124:2761-2766 LA RV LV SAM
  11. 11. Duke Heart Center Outflow Gradient at Rest and with Valsalva When LV Outflow Tract Obstruction Present Resting Intraventricular Gradient= 31 mmHg Gradient with Valsalva=64 mmHg
  12. 12. Duke Heart Center ECG in HCM Prominent septal forces
  13. 13. Duke Heart Center ECG in Apical HCM
  14. 14. Duke Heart Center MRI Findings of Hypertrophic Segmental Location Ao LV LA RV LV Marked Septal Hypertrophy
  15. 15. Duke Heart Center MRI Finding of Hypertrophic Location Mid-ventricular HCM Apical HCM
  16. 16. Duke Heart Center septum * LV LA RV LV * * RV *LV LA LA LA RA RV ** RV Septal Sigmoid Septum Apical Mid VentricularBasal septum only Anterolateral free wall RV RA LV * LV RV
  17. 17. Duke Heart Center Location, Location, Location A Better Prognosis if Nonobstructive Maron MS et al. JACC 2016;67:1399-1409 Most obstructive HCM had some intervention. Freedom from CHFHCM related Mortality- Low
  18. 18. Duke Heart Center MRI Assessment Anatomy Myocardial Perfusion Abnormaliities Late Gadolinium Enhancement (Scar) RV Attachment and Midventricular RV LV
  19. 19. Duke Heart Center Arrhythmogenic Substrate Disarray of hypertrophied muscle cells in thickened area Maron BJ et al JACC 1986;8:545-57 Border zone between normal myocardial architecture and disarray
  20. 20. Duke Heart Center Degree of MRI Hyperenhancement and Sudden Death Risk Chan RH et al. Circ 2014;130:484-495 Varying degrees of hyperenhancement
  21. 21. Duke Heart Center Differentiating Hypertensive Heart Disease from HCM • Favor Hypertension – Normal ECG or LVH by voltage without repolarization changes – Regression of LVH with good BP control • Favor HCM – Family history – RVH – Late gadolinium enhancement at RV insertion points or localized LV thickening by MRI – Maximal wall thickness >15 mm (Caucasian); >20 mm (Black) – Severe diastolic dysfunction – ECG with marked repolarization changes, conduction disease or Q waves Circulation 2011;124:2761-2766
  22. 22. Duke Heart Center Differentiating Athlete’s Heart from HCM Former Professional Basketball Player
  23. 23. Duke Heart Center Specific Sports Training Effects on Heart Size and Wall Thickness Prog CV Dis 2012;54:387
  24. 24. Duke Heart Center Normal Athlete Heart Sizes LV End-diastolic Dimensions LA Sizes Max. Wall Thickness Prog CV Dis 2012;54:387 2% exceed 13 mm 20% have an enlarged LA 14% have an LVEDD over 60 mm
  25. 25. Duke Heart Center Differentiating Athlete’s Heart from HCM Modified from Heart 2005;91:1380 HCM Athlete’s Heart Grey Zone (LV wall 13-15 mm) Unusual patterns of LVH LV cavity <45 mm Marked LA enlargement Bizarre ECG patterns Abnormal LV diastolic filling Female sex Family history of HCM LV cavity >55 mm Normal diastolic filling Normal LA size Male sex Thickness decreases with deconditioning No Family history of HCM Max VO2 > 45 ml/kg/min or >110% predicted LV wall thickness <13 mmLV wall thickness >15 mm Favors HCM Favors Athlete’s Heart
  26. 26. Duke Heart Center Echo Tissue Doppler and Strain Analysis in HCM vs Athletes Int J CV Imaging 2011;27:91 Abnormal Diastolic Parameters from Tissue Doppler Reduced Global Longitudinal Strain
  27. 27. Duke Heart Center Competitive Sports Recommendations • As a generality, those identified with the HCM phenotype should not participate in most sports (exception: those with low intensity). This is independent of all other findings, history or procedures that might have been performed. • Class IIa (LOE C): Asymptomatic, genotype positive HCM with no LVH and no FH of SCD may participate in competitive sports. • Class III (LOE C): Pharmacologic agents or prophylactic ICDs should not be used to allow athletes to participate in competitive sports. AHA/ACC Scientific Statement. JACC 2015;66:2362
  28. 28. Duke Heart Center Recommendations for Noncompetitive Sports in HCM Patients • High Intensity – Not advised: Basketball,body building, ice hockey, racquetball, rock climbing, sprinting, soccer, singles tennis, football, windsurfing – Intermediate: Gymnastics, skiing • Moderate Intensity – Intermediate: Weightlifting, hiking, motorcycling, jogging, surfing, baseball, sailing – Permitted: Biking, modest hiking, swimming laps, doubles tennis, treadmill or stationary bike • Low Intensity – Not advised: Scuba diving – Intermediate: Horseback riding – Permitted: Bowling, brisk walking, golf, skating, snorkeling, nonfree weights Maron BJ et al. Circulation 2004;109;2807-16
  29. 29. Duke Heart Center Recommendations for Therapeutic Options in HCM • Atrial Fibrillation/Flutter- up to 25%. NOT associated with increased risk of SCD. – Amiodarone first choice. Sotalol second. – Anticoagulants. CHADS score not validated in HCM. Either warfarin or NOAC – Ablation- either catheter or surgical if drug intolerant or failure • Chest pain – Verapamil • Heart Failure with Obstructive HOCM – Beta blockers or verapamil. (Do not use verapamil if severe obstruction) Disopyramide (Norpace) – Septal reduction therapy (if >50 mm Hg gradient at rest or exercise) Surgical Myectomy preferred over alcohol ablation in younger pts due to: Need for repeat procedures, 10% incidence of CHB and pacer, and question of increased risk of ventricular tachyarrhythmias – Little enthusiasm remains for dual chamber pacing • Heart Failure without Obstruction- diastolic dysfunction – Beta blockers, verapamil, ?disopyramide – Diuretics with caution. ACE or ARB use is controversial with no evidence supporting their benefit JACC 2011;58:e212-260Eur Heart J 2015;36: 2793-2867
  30. 30. Duke Heart Center End-stage Cardiomyopathy in HCM • About 5% develop “burned out” phase • EF <50 • Predictors: – Family history of end-stage HCM – Extensive gadolinium enhancement (fibrosis) • Treatment – Similar to end-stage cardiomyopathy – Afterload reducing agents, beta blockers, diuretics, ICD, biventricular pacing, advanced heart failure therapies – Cardiac transplantation
  31. 31. Duke Heart Center Clinical Features Associated with Increased Risk of Sudden Cardiac Death • Age: Increased risk in younger patients • NSVT: (>3 beats at >120 pm lasting <30 sec). No evidence frequency, duration or rate of NSVT influences risk of SCD • Maximal LV wall thickness: Greatest risk when >30 mm • FH of SCD at young age (<40) or when SCD has occurred in first degree relative with HCM • Syncope: Only when no other explanation • Left atrial diameter: Larger diameters at higher risk • LV outflow track obstruction: High gradients increase risk, though importance of provocable gradient and impact of treatment unclear • Exercise blood pressure response: Failure of systolic blood pressure to rise >20 mmHg or its fall is abnormal. Greatest significance is in patients <40 years of age • More extensive fibrosis: demonstrated by MRI JACC 2011;58:e212-260Eur Heart J 2015;36: 2793-2867
  32. 32. Duke Heart Center SCD Risk Prediction Models • HCM Risk-SCD Prediction Model: – Probability of SCD at 5 years= 1- 0.998(Prognostic Index) – Prognostic Index includes: • Maximal wall thickness • LA diameter • LVOT gradient • FH of sudden death • Unexplained syncope • Age • Did not include stress results or MRI late enhancement • Included LA diameter and provocable outflow gradient • Controversial O’Malony C, et al. Eur Heart J 2014;35:2010
  33. 33. Duke Heart Center ESC Prediction Model for Sudden Death O’Malony C, et al. Eur Heart J 2014;35:2010 0-2% 2-4% 4-6% >6% http://www.doc2do.com/hcm/webHCM.html
  34. 34. Duke Heart Center Recommendations for prevention of SCD in HCM • Class 1 (LOE C): Avoidance of competitive sports • Class 1 (LOE B): ICD if hx cardiac arrest or sustained VT with symptoms • Class 1 (LOE B): Estimate risk using risk score and re- evaluate at 1-2 year intervals or if change in symptoms • Class IIa (LOE B): definite ICD if 5 year risk of SCD >=6%. • Class IIb (LOE B): maybe ICD if 5 year risk of SCD 4-5% • Class IIb (LOE B): no ICD if 5 year risk <4% unless there are clinical features of proven prognostic importance Eur Heart J 2014; 35:2739
  35. 35. Duke Heart Center Recommendations for ICD Use in HOCM- ESC Risk Scoring System and AHA/ACC Algorithm Eur Heart J 2014; 35:2739 JACC 2011;58:e212-260
  36. 36. Duke Heart Center Critique of ESC Risk Calculator • 1629 pts >16 years of age in HOCM Center of Minneapolis Heart Institute and Tufts (1992-2014). 35 had incurred SCD. 460 had ICDs implanted. Maron, BJ, et al. Am J Cardiol 2015:116:757-764. SCD group (n=35): only 4 (11%) had high risk score. Most would not have gotten ICD. High risk with appropriate ICD for VF/VT (n=46): 59% had low risk scores and only 26% high risk High risk ICD with no shocks (n=414): 62% had low risk score. Survivors with no ICD (n=944): 87% low risk; 8.7% medium and 4.5% high risk. Risk per year of sudden death: 0.62% 0.76% 0.66% 0.42%
  37. 37. Duke Heart Center Age Caveat for ICD Usage in HCM Circulation 2013;129:585:593 HCM patients have increased mortality vs US population, but do not die from HCM AGE > 60
  38. 38. Duke Heart Center Slight Advantage of Surgical Myectomy vs Medical Therapy in Prevention of Sudden Cardiac Death JACC Heart Failure 2014;2:630 No evidence medical therapy or alcohol ablation prevents sudden death.
  39. 39. Duke Heart Center Summary • Most HCM has a genetic basis • Genetic testing recommended to assess the HCM patient’s family and first degree relatives • Wall thickness important, LV outflow obstruction not required for Dx • Important to differentiate HCM from HBP, Athlete’s Heart or other causes of LVH. – Major key is that HCM generally affects diastolic functional measures • Symptomatic treatment dependent on presence or absence of LV outflow obstruction • Risk factor assessment for sudden cardiac death is still undergoing refinement • ICD requirement based on symptoms and risk factors
  40. 40. Duke Heart Center THANKS
  41. 41. Duke Heart Center Class 1 Recommendations for Evaluation and Following Patients with HCM • ECG in all • 48 hr Holter in all: first visit and anytime syncope or palpitations • Echo/Doppler with Valsalva in all • In symptomatic patients with LVOT gradient <50 mmHg, echo/Doppler upright or with exercise • Cardiac MRI if echo unclear or to confirm dx • Genetic counselling regardless of genetic testing • Genetic testing when it enables screening of relatives • TEE if considering surgical myectomy • Intracoronary contrast echo if considering ablation • Coronary angiography in pts who have had cardiac arrest, VT or angina • EP study if ablation possible for atrial arrhythmias or WPW Eur Heart J 2014; 35:2739
  42. 42. Duke Heart Center Circ Heart Fail 2012;5:552 Forest plot of annualized appropriate implantable cardioverter defibrillator intervention rate (%/year) in HCM Patients. Confirms value of ICDs.
  43. 43. Duke Heart Center Cardiovascular abnormalities associated with sports-related sudden death in 820 subjects among the young competitive group (n=50) and the general population (n=770). Eloi Marijon et al. Circulation. 2011;124:672-681
  44. 44. Duke Heart Center Distribution by age of sports-related sudden deaths (SDs) in the overall population (blue) and among young competitive athletes (red). Eloi Marijon et al. Circulation. 2011;124:672-681
  45. 45. Duke Heart Center Sports engaged in at the time of sudden death (SD) in 820 sports participants. Eloi Marijon et al. Circulation. 2011;124:672-681

×