Hypertrophic cardiomyopathy

1. Hypertrophic Hypertrophic
CardiomyopathyCardiomyopathy
Dr. Fuad FarooqDr. Fuad Farooq
Resident CardiologyResident Cardiology
Aga Khan University HospitalAga Khan University Hospital

2. CaseCase
17 years old male professional basketball player with no 17 years old male professional basketball player with no
known past medical history collapses on the playing floor known past medical history collapses on the playing floor
during practice and subsequently arrests. He had been during practice and subsequently arrests. He had been
having some exertional dyspnea for a few months prior to having some exertional dyspnea for a few months prior to
this incident but it did not affect his activity level. He was this incident but it did not affect his activity level. He was
told growing up that he had a “heart murmur” that was told growing up that he had a “heart murmur” that was
never formally investigated. He was taking no never formally investigated. He was taking no
medications, and there was no family history of cardiac medications, and there was no family history of cardiac
disease in his family. An autopsy later revealed that the disease in his family. An autopsy later revealed that the
patient had hypertrophic cardiomyopathy. patient had hypertrophic cardiomyopathy.

3. Background Background
Hypertrophic cardiomyopathy is a genetic Hypertrophic cardiomyopathy is a genetic
disorder that is typically inherited in an disorder that is typically inherited in an
autosomal dominant fashion with variable autosomal dominant fashion with variable
penetrance and variable expressivity penetrance and variable expressivity
The disease has complex symptomatology and The disease has complex symptomatology and
potentially devastating consequences for patients potentially devastating consequences for patients
and their familiesand their families
HCM is the leading cause of sudden cardiac HCM is the leading cause of sudden cardiac
death in preadolescent and adolescent childrendeath in preadolescent and adolescent children

4. The hallmark of the disorder is myocardial The hallmark of the disorder is myocardial
hypertrophy that is inappropriate, often hypertrophy that is inappropriate, often
asymmetrical and occurs in the absence of an asymmetrical and occurs in the absence of an
obvious inciting hypertrophy stimulusobvious inciting hypertrophy stimulus
This hypertrophy can occur in any region of the This hypertrophy can occur in any region of the
left ventricle but frequently involves the IVS, left ventricle but frequently involves the IVS,
which results in an obstruction of flow through which results in an obstruction of flow through
the LVOTthe LVOT
Background Background

5. Prevalence of HCM: Prevalence of HCM: 0.05-0.2% of the population 0.05-0.2% of the population
This occurrence is higher than previously thought, suggesting a This occurrence is higher than previously thought, suggesting a
large number of affected but undiagnosed people large number of affected but undiagnosed people
Morphologic evidence of disease is found by Morphologic evidence of disease is found by
echocardiography in approximately 25% of first-degree echocardiography in approximately 25% of first-degree
relatives of patients with HCMrelatives of patients with HCM
Men and African-Americans affected by almost 2:1 Men and African-Americans affected by almost 2:1
ratio over women and Caucasians ratio over women and Caucasians
Global disease with most cases reported from USA, Global disease with most cases reported from USA,
Canada, Western Europe, Israel, & Asia Canada, Western Europe, Israel, & Asia
Background Background
Maron BJ et al. Circulation. Aug 15 1995;92(4):785-9

6. Historical Perspective Historical Perspective
HCM was initially described by Teare in 1958 HCM was initially described by Teare in 1958
Found massive hypertrophy of ventricular septum in small Found massive hypertrophy of ventricular septum in small
cohort of young patients who died suddenly cohort of young patients who died suddenly
Braunwald was the first to diagnose HCM Braunwald was the first to diagnose HCM
clinically in the 1960s clinically in the 1960s
Many names for the disease Many names for the disease
Idiopathic hypertrophic subaortic stenosis (IHSS)Idiopathic hypertrophic subaortic stenosis (IHSS)
Muscle subaortic stenosis Muscle subaortic stenosis
Hypertrophic obstructive cardiomyopathy (HOCM)Hypertrophic obstructive cardiomyopathy (HOCM)

7. Genetic Basis of HCM Genetic Basis of HCM
Autosomal dominant inheritance Autosomal dominant inheritance
pattern pattern
>450 mutations in 13 cardiac >450 mutations in 13 cardiac
sarcomere & myofilament sarcomere & myofilament
((myosin heavy chain, actin, myosin heavy chain, actin,
tropomyosin, and titin) tropomyosin, and titin) related related
genes identifiedgenes identified
Genotype specific risks for Genotype specific risks for
mortality and degree of mortality and degree of
hypertrophyhypertrophy
Genetic basis of ventricular Genetic basis of ventricular
hypertrophy does not directly hypertrophy does not directly
correlate with prognostic risk correlate with prognostic risk
stratificationstratification
Alcalai et al. J Cardiovasc Electrophysiol 2008;19:104-110.

8. Genetics of HCMGenetics of HCM
Alcalai et al. J Cardiovasc Electrophysiol 2008;19:105.

9. PatternsPatterns

10. Pathophysiology of HCMPathophysiology of HCM
The pathophysiology of HCM involves 4 The pathophysiology of HCM involves 4
interrelated processes:interrelated processes:
Left ventricular outflow obstruction Left ventricular outflow obstruction
Diastolic dysfunction Diastolic dysfunction
Myocardial ischemia Myocardial ischemia
Mitral regurgitation Mitral regurgitation

11. LV Outflow Obstruction in HCMLV Outflow Obstruction in HCM
Long-standing LV outflow obstruction is a Long-standing LV outflow obstruction is a
major determinant for heart failure symptoms major determinant for heart failure symptoms
and death in HCM patients and death in HCM patients
Subaortic outflow obstruction is caused by Subaortic outflow obstruction is caused by
systolic anterior motion (SAM) of the mitral systolic anterior motion (SAM) of the mitral
valve – leaflets move toward the septumvalve – leaflets move toward the septum

12. Explanations for the SAM of the mitral valve Explanations for the SAM of the mitral valve
1.1.Mitral valve is pulled against the septum by contraction Mitral valve is pulled against the septum by contraction
of the papillary muscles, which occurs because of the of the papillary muscles, which occurs because of the
valve's abnormal location and septal hypertrophy valve's abnormal location and septal hypertrophy
altering the orientation of the papillary musclesaltering the orientation of the papillary muscles
2.2.Mitral valve is pushed against the septum because of its Mitral valve is pushed against the septum because of its
abnormal position in the outflow tractabnormal position in the outflow tract
3.3.Mitral valve is drawn toward the septum because of the Mitral valve is drawn toward the septum because of the
lower pressure that occurs as blood is ejected at high lower pressure that occurs as blood is ejected at high
velocity through a narrowed outflow tract (Venturi velocity through a narrowed outflow tract (Venturi
effect)effect)
LV Outflow Obstruction in HCMLV Outflow Obstruction in HCM

13. Physiological Consequences of Obstruction Physiological Consequences of Obstruction
Elevated intraventricular pressures Elevated intraventricular pressures
Prolongation of ventricular relaxation Prolongation of ventricular relaxation
Increased myocardial wall stress Increased myocardial wall stress
Increased oxygen demand Increased oxygen demand
Decrease in forward cardiac output Decrease in forward cardiac output
LV Outflow Obstruction in HCMLV Outflow Obstruction in HCM

14. Maron MS et al. NEJM. 2003;348:295.
Freedom from HCM related deaths Freedom from HCM related deaths

15. Pathophysiology of HCMPathophysiology of HCM
The pathophysiology of HCM involves 4 The pathophysiology of HCM involves 4
interrelated processes:interrelated processes:
Left ventricular outflow obstruction Left ventricular outflow obstruction
Diastolic dysfunction Diastolic dysfunction
Myocardial ischemia Myocardial ischemia
Mitral regurgitation Mitral regurgitation

16. Pathophysiology of HCMPathophysiology of HCM
Diastolic Dysfunction Diastolic Dysfunction
Contributing factor in 80% of patients Contributing factor in 80% of patients
Impaired relaxation Impaired relaxation
High systolic contraction load High systolic contraction load
Ventricular contraction/relaxation not uniform Ventricular contraction/relaxation not uniform
Accounts for symptoms of exertional dyspneaAccounts for symptoms of exertional dyspnea
Increased filling pressures Increased filling pressures  increased pulmonary venous increased pulmonary venous
pressure pressure

17. Pathophysiology of HCMPathophysiology of HCM
The pathophysiology of HCM involves 4 The pathophysiology of HCM involves 4
interrelated processes:interrelated processes:
Left ventricular outflow obstruction Left ventricular outflow obstruction
Diastolic dysfunction Diastolic dysfunction
Myocardial ischemia Myocardial ischemia
Mitral regurgitation Mitral regurgitation

18. Myocardial Ischemia Myocardial Ischemia
Often occurs without atherosclerotic coronary artery Often occurs without atherosclerotic coronary artery
disease disease
Postulated mechanismsPostulated mechanisms
Abnormally small and partially obliterated intramural Abnormally small and partially obliterated intramural
coronary arteries as a result of hypertrophy coronary arteries as a result of hypertrophy
Inadequate number of capillaries for the degree of LV Inadequate number of capillaries for the degree of LV
mass and increased myocardial oxygen consumptionmass and increased myocardial oxygen consumption
Increased filling pressuresIncreased filling pressures
Resulting in subendocardial ischemiaResulting in subendocardial ischemia
Pathophysiology of HCMPathophysiology of HCM

19. The pathophysiology of HCM involves 4 The pathophysiology of HCM involves 4
interrelated processes:interrelated processes:
Left ventricular outflow obstruction Left ventricular outflow obstruction
Diastolic dysfunction Diastolic dysfunction
Myocardial ischemia Myocardial ischemia
Mitral regurgitation Mitral regurgitation
Pathophysiology of HCMPathophysiology of HCM

20. Mitral Regurgitation Mitral Regurgitation
Results from the systolic anterior motion of the Results from the systolic anterior motion of the
mitral valvemitral valve
Variations in leaflet length (posterior/anterior leaflet Variations in leaflet length (posterior/anterior leaflet
length mismatch) – restrict the ability of the length mismatch) – restrict the ability of the
posterior leaflet to follow the anterior leaflet and to posterior leaflet to follow the anterior leaflet and to
coapt effectively resulting in MRcoapt effectively resulting in MR
Severity of MR directly proportional to LV outflow Severity of MR directly proportional to LV outflow
obstruction obstruction
Results in symptoms of dyspnea, orthopnea in HCM Results in symptoms of dyspnea, orthopnea in HCM
patients patients
Pathophysiology of HCMPathophysiology of HCM

21. Clinical Presentation Clinical Presentation
Dyspnea on exertion (90%), orthopnea, PNDDyspnea on exertion (90%), orthopnea, PND
Palpitations (PAC, PVC, sinus pauses, AF, A flutter, Palpitations (PAC, PVC, sinus pauses, AF, A flutter,
SVT and VT)SVT and VT)
Congestive heart failureCongestive heart failure (2 (2
oo
to increased filling pressures to increased filling pressures
and myocardial ischemia)and myocardial ischemia)
Angina (70-80%) Angina (70-80%)
Syncope (20%), Presyncope (50%) Syncope (20%), Presyncope (50%)
Outflow obstruction worsens with increased contractility Outflow obstruction worsens with increased contractility
during exertional activities resulting in decrease in cardiac during exertional activities resulting in decrease in cardiac
outputoutput
Secondary to arrhythmiasSecondary to arrhythmias

22. Sudden cardiac deathSudden cardiac death
HCM is most common cause of SCD in young HCM is most common cause of SCD in young
people, including athletespeople, including athletes
Can be the first manifestationCan be the first manifestation
Most common cause is arrhythmias esp. VF either Most common cause is arrhythmias esp. VF either
denovo or AF degenerated into VF 2denovo or AF degenerated into VF 2
oo
accessory accessory
pathway pathway
Clinical Presentation Clinical Presentation

23. Physical Examination Physical Examination
Carotid PulseCarotid Pulse
Bifid – Bifid – rises quickly, then declines in midsystole followed rises quickly, then declines in midsystole followed
by a secondary rise in carotid pulsation during late systole by a secondary rise in carotid pulsation during late systole
short upstroke & prolonged systolic ejection short upstroke & prolonged systolic ejection
Jugular Venous Pulse Jugular Venous Pulse
Prominent Prominent a wavea wave – decreased RV compliance – decreased RV compliance
Apical Impulse Apical Impulse
Double apical impulse - forceful left atrial contraction Double apical impulse - forceful left atrial contraction
against a highly noncompliant left ventricleagainst a highly noncompliant left ventricle
Triple apical impulse results from a late systolic bulge that Triple apical impulse results from a late systolic bulge that
occurs when the heart is almost empty and is performing occurs when the heart is almost empty and is performing
near-isometric contractionnear-isometric contraction

24. Physical Examination Physical Examination
Heart SoundsHeart Sounds
S1 usually normalS1 usually normal
S2 usually split but in severe stenosis – paradoxically splitS2 usually split but in severe stenosis – paradoxically split
S3 indicate heart failureS3 indicate heart failure

S4 usually present due to hypertrophyS4 usually present due to hypertrophy
MurmurMurmur
Medium-pitch crescendo-decrescendo systolic murmur Medium-pitch crescendo-decrescendo systolic murmur
along LLSB and apex and radiates to suprasternal notchalong LLSB and apex and radiates to suprasternal notch
Dynamic maneuvers Dynamic maneuvers
Murmur intensity increases with decreased preload Murmur intensity increases with decreased preload
(i.e. Valsalva, standing, nitrates, diuretics)(i.e. Valsalva, standing, nitrates, diuretics)
Murmur intensity decreases with increased preload Murmur intensity decreases with increased preload
(i.e. squatting, hand grip) (i.e. squatting, hand grip)

26. Holosystolic murmur at the apex and axilla of Holosystolic murmur at the apex and axilla of
mitral regurgitation is heard in patients with mitral regurgitation is heard in patients with
systolic anterior motion of the mitral valve and systolic anterior motion of the mitral valve and
significant LV outflow gradientssignificant LV outflow gradients
Diastolic decrescendo murmur of aortic Diastolic decrescendo murmur of aortic
regurgitation is heard in 10% of patients, regurgitation is heard in 10% of patients,
although mild aortic regurgitation can be although mild aortic regurgitation can be
detected by Doppler echocardiography in 33% detected by Doppler echocardiography in 33%
of patientsof patients
Physical Examination Physical Examination

27. Diagnostic Evaluation Diagnostic Evaluation
ElectrocardiogramElectrocardiogram
Echocardiogram Echocardiogram
Catheterization Catheterization
Cardiac MRCardiac MR

28. Electrocardiogram in HCMElectrocardiogram in HCM
LVH with nonspecific ST/T wave abnormalities
Left or right axis deviation, LAE, Conduction abnormalities
Abnormal and prominent Q wave in the anterior precordial and lateral limb leads
A fib with preexitation implies poor prognosis
Findings on Holter monitoring include APC’s VPC’s, sinus pauses, wandering atrial pacemaker,
atrial tachycardia, AF/flutter and nonsustained ventricular tachycardia.

29. 2-D echocardiography is diagnostic for HCM2-D echocardiography is diagnostic for HCM
Abnormal systolic anterior leaflet motion of the mitral valveAbnormal systolic anterior leaflet motion of the mitral valve
LV hypertrophyLV hypertrophy
Left atrial enlargementLeft atrial enlargement
Diastolic dysfunctionDiastolic dysfunction
Small ventricular chamber sizeSmall ventricular chamber size
Septal hypertrophy with septal to free wall ratio greater than Septal hypertrophy with septal to free wall ratio greater than
1.4:1 (absolute septal wall thickness >15mm)1.4:1 (absolute septal wall thickness >15mm)
SAM of anterior and rarely posterior mitral valve leaflet and SAM of anterior and rarely posterior mitral valve leaflet and
mitral regurgitationmitral regurgitation
Decreased mid aortic flowDecreased mid aortic flow
Partial systolic closure of the aortic valve in mid systolePartial systolic closure of the aortic valve in mid systole
Echocardiography in HCMEchocardiography in HCM

35. Useful when echocardiography is questionable, particularly with Useful when echocardiography is questionable, particularly with
apical hypertrophyapical hypertrophy
Cines loops typically show obstruction and velocity mapping is Cines loops typically show obstruction and velocity mapping is
useful in the assessment of peak velocitiesuseful in the assessment of peak velocities
SAM of the mitral valve is clearly seen on cardiac MRISAM of the mitral valve is clearly seen on cardiac MRI
Improvement in obstruction after septal ablation or Improvement in obstruction after septal ablation or
myomectomy can be demonstrated, as can the location and size myomectomy can be demonstrated, as can the location and size
of the associated infarction, which are useful for planning repeat of the associated infarction, which are useful for planning repeat
proceduresprocedures
Cardiac MRI tagging identifies abnormal patterns of strain, shear, Cardiac MRI tagging identifies abnormal patterns of strain, shear,
and torsion in cases of HCM, demonstrating significant and torsion in cases of HCM, demonstrating significant
dysfunction in hypertrophic areas of the ventricledysfunction in hypertrophic areas of the ventricle
Cardiac MRI in HCMCardiac MRI in HCM

36. Gadolinium contrast cardiac MRI - differentiating HCM from Gadolinium contrast cardiac MRI - differentiating HCM from
other causes of cardiac hypertrophy and other types of other causes of cardiac hypertrophy and other types of
cardiomyopathy such as, amyloidosis, athletic heart, and Fabry’s cardiomyopathy such as, amyloidosis, athletic heart, and Fabry’s
diseasedisease
Late gadolinium enhancement occurring in HCM represents Late gadolinium enhancement occurring in HCM represents
myocardial fibrosismyocardial fibrosis
The greater the degree of late gadolinium enhancement, the more likely The greater the degree of late gadolinium enhancement, the more likely
that the particular HCM patient has 2 or more risk factors for sudden that the particular HCM patient has 2 or more risk factors for sudden
deathdeath
More likely the patient has or will develop progression of ventricular More likely the patient has or will develop progression of ventricular
dilation toward heart failure, thereby indicating a poorer prognosisdilation toward heart failure, thereby indicating a poorer prognosis
Most patients with HCM have no gadolinium enhancementMost patients with HCM have no gadolinium enhancement
Common benign pattern is 2 stripes running along the junction of the Common benign pattern is 2 stripes running along the junction of the
right ventricle insertion into the left ventricleright ventricle insertion into the left ventricle
Cardiac MRI in HCMCardiac MRI in HCM

40. Apical HCM by Echo & CMRApical HCM by Echo & CMR
•64 female with CP &
palpitation
•ECG – extensive T wave
inversion
•Echo – akinetic apex &
diastolic dysfunction
•Cine CMR – confirmed
clinical suspicion of apical
HCM

41. High risk HCMHigh risk HCM
•33 male with HCM and
family history of
sudden death
•Cine CMR shows
HCM with ASH
•After gadolinium
extensive late
enhancement
•Patient was offered an
ICD

42. Diagnostic cardiac catheterization is useful to determine the Diagnostic cardiac catheterization is useful to determine the
degree of LVOT obstruction, cardiac hemodynamics, the degree of LVOT obstruction, cardiac hemodynamics, the
diastolic characteristics of the left ventricle, LV anatomy and diastolic characteristics of the left ventricle, LV anatomy and
coronary anatomycoronary anatomy
Reserved for situations when invasive modalities of therapy, such Reserved for situations when invasive modalities of therapy, such
as a pacemaker or surgery, are being consideredas a pacemaker or surgery, are being considered
Therapeutic cardiac catheterization interventions, include Therapeutic cardiac catheterization interventions, include
transcatheter septal alcohol ablationtranscatheter septal alcohol ablation
The arterial pressure tracing found on cardiac catheterization The arterial pressure tracing found on cardiac catheterization
may demonstrate a "spike and dome" configurationmay demonstrate a "spike and dome" configuration
Cardiac Catheterization Cardiac Catheterization

43. Cardiac Catheterization Cardiac Catheterization
Approximately one fourth of patients demonstrate Approximately one fourth of patients demonstrate
pulmonary hypertension - usually mildpulmonary hypertension - usually mild
Enhancing of LVOT gradient in post PVC Enhancing of LVOT gradient in post PVC
 Results in characteristic change recorded on arterial pressure Results in characteristic change recorded on arterial pressure
tracing - exhibits a pulse pressure that fails to increase as tracing - exhibits a pulse pressure that fails to increase as
expected or actually decreases (the so-called Brockenbrough-expected or actually decreases (the so-called Brockenbrough-
Braunwald phenomenon)Braunwald phenomenon)
One of the more reliable signs of dynamic obstruction of the One of the more reliable signs of dynamic obstruction of the
LVOT, intensity of murmur also increasedLVOT, intensity of murmur also increased

44. Cardiac Catheterization Cardiac Catheterization
• LV gram shows hypertrophied LV
• MR secondary to SAM of mitral
valve
• The LV cavity is often small and
systolic ejection is typically vigorous,
resulting in virtual obliteration of the
ventricular cavity at end systole
• In patients with apical involvement,
the extensive hypertrophy may convey a
spade-like configuration to the left
ventricular angiogram

45. Disease Progression in HCMDisease Progression in HCM
ACC Consensus Document. J Am Coll Cardiol. 2003;42(9):1693.

46. Sudden Cardiac Death in HCM Sudden Cardiac Death in HCM
Most frequent in young Most frequent in young
adults <30-35 years oldadults <30-35 years old
Primary VF/VT Primary VF/VT
Tend to die during or Tend to die during or
just following vigorous just following vigorous
physical activity physical activity
Often is 1Often is 1
stst
clinical clinical
manifestation of disease manifestation of disease
HCM is most common HCM is most common
cause of SCD among cause of SCD among
young competitive young competitive
athletes athletes
J Am Coll Cardiol. 2003;42(9):1693.

47. SCD in Competitive Athletes SCD in Competitive Athletes
Maron B. Atlas of Heart Diseases. 1996

48. Natural History of HCM Natural History of HCM
Heart Failure Heart Failure
Only 10-15% progress to Only 10-15% progress to
NYHA III-IV NYHA III-IV
Only 3% will become Only 3% will become
truly end-stage with truly end-stage with
systolic dysfunction systolic dysfunction
Endocarditis Endocarditis
4-5% of HCM patients 4-5% of HCM patients
Usually mitral valve Usually mitral valve
affected affected
Atrial Fibrillation Atrial Fibrillation
Prevalent in up to 30% of Prevalent in up to 30% of
older patientsolder patients
Dependent on atrial kick – Dependent on atrial kick –
CO decreases by 40% if AF CO decreases by 40% if AF
present present
Autonomic Dysfunction Autonomic Dysfunction
25% of HCM patients 25% of HCM patients
Associated with poor Associated with poor
prognosis prognosis

49. Influence of Gender & Race Influence of Gender & Race
Women often remain under diagnosed and are Women often remain under diagnosed and are
clinical recognized after they develop more clinical recognized after they develop more
pronounced symptomspronounced symptoms
11

HCM clinically under recognized in African-HCM clinically under recognized in African-
Americans Americans
Most athletes with SCD due to HCM are Most athletes with SCD due to HCM are
undiagnosed African-Americansundiagnosed African-Americans
22
1
Olivotto I et al. J Am Coll Cardiol 2005;46:480.
2
Maron BJ et al. J Am Coll Cardiol 2003;41:974.

50. Treatment of HCM Treatment of HCM
Medical therapy Medical therapy
Device therapy Device therapy
Surgical septal myomectomy Surgical septal myomectomy
Alcohol septal ablationAlcohol septal ablation

51. ACC Consensus Document. J Am Coll Cardiol. 2003;42(9):1693.

52. MedicalMedical Therapy Therapy
Beta-blockersBeta-blockers
Increase ventricular diastolic filling/relaxation Increase ventricular diastolic filling/relaxation
Decrease myocardial oxygen consumption Decrease myocardial oxygen consumption
Have not been shown to reduce the incidence of SCD Have not been shown to reduce the incidence of SCD
Verapamil Verapamil
Augments ventricular diastolic filling/relaxation Augments ventricular diastolic filling/relaxation
Disopyramide Disopyramide
Used in combination with beta-blocker Used in combination with beta-blocker
Negative inotrope Negative inotrope
Diuretics Diuretics

53. Dual-Chamber Pacing Dual-Chamber Pacing
Proposed benefit: Proposed benefit:
Pacing the RV apex will decrease the outflow tract gradient Pacing the RV apex will decrease the outflow tract gradient
by decreasing projection of basal septum into LVOTby decreasing projection of basal septum into LVOT
Several RCTs have found that the improvement in Several RCTs have found that the improvement in
subjective measures provided by dual-chamber pacing subjective measures provided by dual-chamber pacing
is likely a placebo effect is likely a placebo effect
Objective measures such as exercise capacity and Objective measures such as exercise capacity and
oxygen consumption are not improved oxygen consumption are not improved
No correlation has been found between pacing and No correlation has been found between pacing and
reduction of LVOT gradient reduction of LVOT gradient

54. Surgical Septal MyectomySurgical Septal Myectomy
Nishimura RA et al. NEJM. 2004. 350(13):1320.

57. J Am Coll Cardiol 1999;34(1):191-6.

58. Alcohol Septal Ablation Alcohol Septal Ablation

59. Alcohol Septal Ablation Alcohol Septal Ablation
Before After

60. Pre Alcohol Septal AblationPre Alcohol Septal Ablation

61. Post Alcohol Septal AblationPost Alcohol Septal Ablation

62. Alcohol Septal Ablation Alcohol Septal Ablation
Successful short-term outcomesSuccessful short-term outcomes
LVOT gradient reduced from a mean of 60-70 mmHg to LVOT gradient reduced from a mean of 60-70 mmHg to
<20 mmHg <20 mmHg
Symptomatic improvements, increased exercise tolerance Symptomatic improvements, increased exercise tolerance
Long-term data not available yet Long-term data not available yet
Complications Complications
Complete heart blockComplete heart block
Large myocardial infarctionLarge myocardial infarction
No randomized efficacy trials yet for alcohol septal No randomized efficacy trials yet for alcohol septal
ablation vs. surgical myectomy ablation vs. surgical myectomy

63. Circulation. 2008; 18(2): 131-9.
Overall survival:
93.5% at 2 yrs, 88%
at 4 yrs

64. Efficacy of Therapeutic StrategiesEfficacy of Therapeutic Strategies
Nishimura et al. NEJM. 2004. 350(13):1323.

65. CoilCoil Embolization Embolization
Case report of 20 patients Case report of 20 patients
with drug-refractory HCM with drug-refractory HCM
Occlude septal perforator Occlude septal perforator
branches branches
NYHA functional class and NYHA functional class and
peak oxygen consumption peak oxygen consumption
improved at 6 months improved at 6 months
Significant reduction in Significant reduction in
septum thickness by echo septum thickness by echo
European Heart Journal 2008;29:350.

66. Implantable Cardioverter Implantable Cardioverter
Defibrillators in HCMDefibrillators in HCM
Primary & Secondary Prevention Primary & Secondary Prevention

67. Maron BJ et al. NEJM 2000;342:365-73.
Appropriate discharges in Appropriate discharges in
23% of patients 23% of patients
Rate of appropriate Rate of appropriate
discharges of 7% per year discharges of 7% per year
Of 21 patients for which Of 21 patients for which
intracardiac electrograms intracardiac electrograms
were available, 10 shocks for were available, 10 shocks for
VT, 9 shocks for VFVT, 9 shocks for VF
Suggested role for ICDs in Suggested role for ICDs in
primary & secondary primary & secondary
prevention of SCDprevention of SCD

68. Risk Stratification – ICDs Risk Stratification – ICDs
Primary Prevention Risk Factors for SCD Primary Prevention Risk Factors for SCD
Premature HCM-related sudden death in more than Premature HCM-related sudden death in more than
1 relative 1 relative
History of unexplained syncope History of unexplained syncope
Multiple or prolonged NSVT on Holter Multiple or prolonged NSVT on Holter
Hypotensive blood pressure response to exercise Hypotensive blood pressure response to exercise
Massive LVH Massive LVH
How many risk factors warrant ICD placement?

69. Multicenter registry study Multicenter registry study
with 506 pts from 1986-2003 with 506 pts from 1986-2003
Average age 41 years oldAverage age 41 years old
35% pts - primary 35% pts - primary
prevention received ICDs prevention received ICDs
had 1 risk factor had 1 risk factor
Primary Outcome: Primary Outcome:
appropriate ICD appropriate ICD
interventions terminating interventions terminating
VF/VT VF/VT
J Cardiovasc Electrophysiol 2008;19(10).

70. J Am Coll Cardiol. 2008;51(10):1033-9.
3500 asymptomatic elite 3500 asymptomatic elite
athletes (75% male), mean athletes (75% male), mean
age 20.5 +/- 5.8 years, no age 20.5 +/- 5.8 years, no
family hx of HCM family hx of HCM
12-lead ECG, 2D-Echo 12-lead ECG, 2D-Echo
53 athletes (1.5%) had 53 athletes (1.5%) had
LVH LVH
3 athletes (0.08%) had 3 athletes (0.08%) had
ECG and echo features of ECG and echo features of
HCMHCM

71. HCM vs. Athlete’s Heart HCM vs. Athlete’s Heart
Circulation 1995;91.

72. Future Directions Future Directions
Identification of additional causative mutations Identification of additional causative mutations
Risk stratification tools Risk stratification tools
Determining more precise indications for ICDs Determining more precise indications for ICDs
Defining most appropriate role for alcohol Defining most appropriate role for alcohol
septal ablation septal ablation
?Gene therapy ?Gene therapy

73. Thank You!Thank You!