Hypertrophic Cardiomyopathy (HCM) · 2016-02-09 · Hypertrophic Cardiomyopathy Echocardiographic...
Transcript of Hypertrophic Cardiomyopathy (HCM) · 2016-02-09 · Hypertrophic Cardiomyopathy Echocardiographic...
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Hypertrophic Cardiomyopathy (HCM)
William K. Freeman, MD, FACC, FASE
Evaluation and
Differential Diagnosis Role of Echocardiography
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DISCLOSURES
Relevant Financial Relationship(s)
None
Off Label Usage
None
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Hypertrophic Cardiomyopathy Echocardiographic Diagnosis
Left Ventricular Hypertrophy 15 mm
(Asymmetric >> Symmetric)
In the absence of another
cardiovascular or systemic
disease associated with LVH
or myocardial wall thickening
Gersh, BJ, et al. JACC 2011; 58: e212 ACC/AHA Guidelines
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Hypertrophic Cardiomyopathy Echocardiographic Diagnosis
• Asymmetric Septal Hypertrophy (ASH)
• Systolic Anterior Motion (SAM)
• Dynamic LVOT obstruction
Not Mandatory for Diagnosis of HCM
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Hypertrophic Cardiomyopathy Distribution of LVH (600 Patients)
Anterior and
inferior septum
(31%)
Anterior
septum only
(25%)
Klues HG, JACC 1995; 26: 1699
Septum & ant lat freewall (17%)
Septum & all
freewalls (17%)
Anterior septum
& ant lat freewall
(7%)
Lateral freewall
(1%)
Apex only
(2%)
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Left Ventricular Morphology in HCM
Binder J, et al. Mayo Clin Proc 2006; 81: 459.
181(47%)
Gene + (8%)
132(35%)
Gene + (79%)
37(10%)
Gene + (32%)
32(8%)
Gene + (41%)
Sigmoid
Septum
Reverse
Septum
Neutral
Septum
Apical
Variant
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Genetic testing for HCM Mayo Clinic Database (389 Patients)
• Echocardiographic anatomic phenotypes are not specific for individual gene mutations
• Specific gene mutations not predictive of prognosis or need for myectomy
Van Driest SL, et al. Mayo Clin Proc 2005; 80: 739
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LVH in HCM: Sigmoid Septum
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LVH in HCM: Neutral Septum
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LVH in HCM: Reversed Septum
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Systolic Anterior Motion (SAM)
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• Drag effect >>> Venturi effect
• Anterior displacement of mitral valve and
support apparatus; small LV cavity
• Septal encroachment into LVOT
• Mitral valve characteristics
• Anterior displacement of papillary muscles
• Unusual chordal attachments
• Elongated anterior leaflet
• Aberrant muscle bundles
HOCM: Systolic Anterior Motion (SAM)
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Normal Anatomy of the LV Outflow Tract
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Hypertrophic Cardiomyopathy
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Systolic Anterior Motion (SAM)
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Systolic Anterior Motion (SAM): LV Ejection Obstruction Regurgitation
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Systolic Anterior Motion (SAM): LV Ejection
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Systolic Anterior Motion (SAM): LV Ejection Obstruction
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Systolic Anterior Motion (SAM): LV Ejection Obstruction Regurgitation
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Systolic Anterior Motion (SAM): LV Ejection Obstruction Regurgitation
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Basal LVOT Obstruction
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Basal LVOT Obstruction
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MR LVOT
Dynamic LVOT Obstruction vs. MR CW Doppler (ΔP 4V2)
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HCM Morphology and LVOT Obstruction Mayo Clinic HCM Database (2,856 Patients)
Resting Gradient
>30 mmHg (41%)
Resting Gradient <30 mmHg
Provocable Gradient > 30 mmHg
(27%)
Apical HCM (7%)
Nonobstructive
(23%)
Mid-Cavity
Obstruction
(2%)
Ommen SR, et al. 2006
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39 y/o Executive: New DOE during workouts
Focal Anteroseptal Basal LVH = 17 mm
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39 y/o Executive: New DOE during workouts
Rest
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39 y/o Executive: New DOE during workouts
Rest
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39 y/o Executive: New DOE During Workouts
Resting LVOT gradient = 12 mmHg
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39 y/o Executive: New DOE During Workouts
Valsalva Maneuver
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39 y/o Executive: New DOE During Workouts
Valsalva Maneuver
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39 y/o Executive: New DOE During Workouts
Valsalva: LVOT gradient = 34 mmHg
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39 y/o Executive: New DOE During Workouts
Amyl Nitrite
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39 y/o Executive: New DOE During Workouts
Amyl Nitrite
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39 y/o Executive: New DOE During Workouts
Amyl Nitrite: LVOT gradient = 77 - 100 mmHg
5.0 m/sec
4.4 m/sec
LVOT 6.9 m/sec MR
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LAP 15
P 4 (6.9)2 = 190
LV Pressure 205
Aortic Systolic BP = 100
LV
Ao LA
LVOT gradient 105
Estimating LVOT Gradient Using MR Peak Velocity
MR Velocity = 6.9 m/sec Systolic BP = 100 mmHg
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Mid-Cavitary LVOT Obstruction
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Mid-Cavitary LVOT Obstruction
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Mid-Cavitary LVOT Obstruction Asymmetric Inferior & Inferoseptal LVH
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Mid-Cavitary LVOT Obstruction Asymmetric Inferior & Inferoseptal LVH
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Mid-cavitary LVOT Gradient: 56 mmHg
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LVOT Obstruction in HCM: More than SAM Alone
Abnormal Mitral Support and Muscle Bundles
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LVOT Obstruction in HCM: More than SAM Alone
Abnormal Mitral Support and Muscle Bundles
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LVOT Obstruction in HCM: More than SAM Alone
Abnormal Mitral Support and Muscle Bundles
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Apical HCM
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Apical HCM
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Apical HCM
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Apical HCM
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Apical HCM
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Apical HCM with Apical Aneurysm
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Apical HCM with Apical Aneurysm
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Apical HCM with Apical Aneurysm
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Apical HCM with Apical Aneurysm Early and Late Systolic Outflow Obstruction ~ 60 mmHg
Systolic Diastolic
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• Apical abnormalities in apical HCM: Pouch: 15%; Aneurysm: 3%
• Adverse events associated with aneurysm (not apical pouch)
• Progressive heart failure/death (18%)
• SCD or revived cardiac arrest (14%)
• Appropriate ICD discharge (11%)
• Nonfatal embolic stroke (7%)
Hypertrophic Cardiomyopathy Complicated by Apical Aneurysm
Binder J et al JASE 2011;24:775
Maron MS, et al. Circulation 2008;118:1541
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Hypertrophic Cardiomyopathy Differential Diagnosis of Thickened LV Walls
Cardiovascular
Systemic Disease
Acquired
Hypertension
Aortic stenosis
Athlete’s heart
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82 y/o Man: Hypertension x 30 yrs; No Sxs
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34 y/o Triathlete: LVH on ECG, No Symptoms
LV wall thickness 13 mm
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Athlete’s Heart versus HCM
HCM Athlete’s Heart
LV wall thickness 15 mm < 15 mm (usually < 13 mm)
Morphology Asymmetric Symmetric
LVEDD <45mm >55mm
Diastolic filling Abnormal Normal
LA volume Increased Normal
Response to Regression
deconditioning of LVH None
Maron BJ. Heart 2005; 91: 1380
Strain Imaging* Abnormal Normal
* Butz T, et al. Int J Cardiovasc Imaging 2011; 27:101
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Hypertrophic Cardiomyopathy Differential Diagnosis of Thickened LV Walls
Cardiovascular
Systemic Disease
Acquired Congenital
Hypertension
Aortic stenosis
Athlete’s heart
Subaortic stenosis
LV noncompaction
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71 y/o Woman: Murmur Since Childhood;
Previously Treated as HOCM
Congenital Fibromuscular Subaortic Stenosis
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68 y/o Woman: Abnormal ECG; Asymptomatic
Left Ventricular Noncompaction Syndrome
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68 y/o Woman: Abnormal ECG; Asymptomatic
Left Ventricular Noncompaction Syndrome
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Hypertrophic Cardiomyopathy Differential Diagnosis of Thickened LV Walls
Cardiovascular
Systemic Disease
Acquired Congenital
Hypertension
Aortic stenosis
Athlete’s heart
Subaortic stenosis
LV noncompaction
Fabry disease
Cardiac amyloidosis
Hypereosinophilic syndrome
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70 y/o Man: Dyspnea on exertion
Fabry Disease (Alpha-Galactosidase A Deficiency)
Glycosphingolipid
Accumulation
Pieroni M, et al. JACC 2006; 47: 1663
Hyper-refractile
subendocardial border:
94% Sensitive
100% Specific
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56 y/o Woman: Biventricular heart failure; SAM
Amyloid Infiltrative Cardiomyopathy
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Amyloid Infiltrative
Cardiomyopathy
• Low voltage QRS
• Anteroseptal
Pseudoinfarction
Pattern
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Risk Stratification in HCM Sudden Cardiac Death
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Hypertrophic Cardiomyopathy (HCM) Arrhythmogenic Myocardial Substrate
Myocyte
Disarray
Coronary
Arteriole
Remodeling
Ischemia
Micro-infarction
Fibrosis
Maron BJ. Circulation 2010; 121: 445
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Sudden Cardiac Death (SCD) in HCM Primary Risk Factors
• SCD in 1º relative due to HCM
• Unexplained syncope ( ≥ 1 episode)
• Massive LVH ( ≥ 30 mm thickness)
• Nonsustained VT on ECG monitoring
• Exercise BP response : ↓ or →
Gersh, BJ, Maron BJ et al. JACC 2011; 58: e212 ACC/AHA Guidelines
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HCM with massive (>30 mm) LV hypertrophy Septum: 42 mm; LV mass index 548 gm/m2
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HCM with massive (>30 mm) LV hypertrophy Septum: 42 mm; LV mass index 548 gm/m2
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Risk Stratification for Sudden Cardiac Death LV Wall Thickness and Clinical Risk Factors
0.00
0.05
0.10
0.15
0.20
0.25
0.30
0.35
5 Y
ea
r m
ort
ali
ty
3 2 1 0
<15
15-1920-24
25-29>30
Number of Risk Factors
Elliot PM, et al. Lancet 2001; 357: 420
Maximum LV Wall
Thickness (mm)
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Sudden Cardiac Death (SCD) in HCM Secondary Risk Factors
• Intramyocardial Fibrosis:
Delayed gadolinium enhancement on MRI
• Apical LV aneurysm (Apical variant of HCM)
• Prior alcohol septal ablation
• Burning out phase of HCM (1-5% incidence)
• LVOT obstruction > 30 mmHg at rest ( ≤10% Positive Predictive Value)
Gersh, BJ, Maron BJ et al. JACC 2011; 58: e212 ACC/AHA Guidelines
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Intramyocardial Fibrosis in HCM
Delayed Gadolinium Enhancement (DGE) on MRI
Focal: Low Risk Confluent: Higher risk
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27
8
0
20
40
60
DGE
Present
DGE
Absent
Nonsustained VT
(4314 Months F/U)
%
(n = 126) (n = 94)
Rubinshtein R, et al. Circ Heart Fail 2010; 3:51
• Reversed septal morphology
• Septal thickness > 20 mm
• LV Mass > 150 gm/m2
• LVEF < 50%
Predictors of DGE
Intramyocardial Fibrosis in HCM
Delayed Gadolinium Enhancement (DGE) on MRI
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Intramyocardial Fibrosis in HCM: Detection by Echocardiography ?
Speckle Tracking
Strain Imaging
Apparent normal
global and regional
LV systolic function
Abnormal global
and/or regional LV
systolic function
Fibrosis likely where
LV is dysfunctional
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Longitudinal Strain Imaging Risk Stratification in HCM
Abnormalities in longitudinal strain
correlate directly with degree of
myocardial fibrosis by DGE on MRI
and also LV wall thickness
Popovic ZB, et al. J Am Soc Echocardiogr 2008; 21: 129
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The presence of strain values of ≥ -10%
in > 3/18 LV segments is an independent
predictor of nonsustained VT
(Sensitivity 81%, Specificity 97%)
Di Salvo G, et al. J Am Soc Echocardiogr 2010; 23: 581
Longitudinal Strain Imaging Risk Stratification in HCM
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31 y/o Electrician: Nonexertional presyncope, syncope,
exercise induced hypotension, family history of SCD x 3
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31 y/o Electrician: Nonexertional presyncope, syncope,
exercise induced hypotension, family history of SCD x 3
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Longitudinal Strain
31 y/o Electrician: Nonexertional presyncope, syncope,
exercise induced hypotension, family history of SCD x 3
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Cardiac MR Imaging: Delayed Gadolinium Enhancement
31 y/o Electrician: Nonexertional presyncope, syncope,
exercise induced hypotension, family history of SCD x 3
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Sudden Cardiac Death (SCD) in HCM
• Gene mutation (>1,000 mutations; 11 genes)
• Atrial fibrillation
• Coronary artery bridging
• Diastolic dysfunction
• Highly competitive sports
• Coronary artery disease
Uncertain Risk Factors
Modifiable Risk Factors
Gersh, BJ, Maron BJ et al. JACC 2011; 58: e212 ACC/AHA Guidelines
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Abnormal Relaxation
Mildly Elevated Filling Pressure (Grade Ia/IV)
MV Inflow Medial TDI
E/e' = 0.6 / 0.03 = 20
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Irreversible Restrictive Severely Elevated Filling Pressure (Grade IV/IV)
e' = 0.03
E/e ' = 1.2 / 0.03 = 40
MV Inflow Medial TDI
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Years
0
10
20
30
40
50
60
70
80
90
0 4 8 12 16 20
Log rank p <0.001
Cumulative
HCM-related
death (%)
Biagini E, et al. Am J Cardiol 2009; 104: 1727
Restrictive Diastolic Dysfunction
Prognosis in HCM (239 Patients)
Restrictive LV Filling
at Initial Evaluation
Non-Restrictive LV Filling
at Initial Evaluation
HR: 3.54; 95% CI 1.91-6.57
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Indications for ICD in
Hypertrophic Cardiomyopathy
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Prior cardiac arrest or
Sustained VT
Yes ICD Recommended
(Class I)
Family Hx of SCD in
first degree relative or
Recent unexplained
syncope or
LV wall thickness
30 mm
Nonsustained VT or
Abnormal Stress BP
response
ICD Not Recommended
(Class III)
No
No
No
Yes ICD Reasonable
(Class IIa)
Yes Other SCD Risk Factors present?
Yes No
ICD Reasonable
(Class IIa)
ICD Role Uncertain
(Class IIb)
Gersh, BJ, Maron BJ et al. JACC 2011; 58: e212 ACC/AHA Guidelines
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Family Screening for HCM by Echo
< 12 Yrs Old
12 to 18-21 Yrs
Old
>18-21 Yrs Old
Optional unless:
Malignant Family Hx
Cardiac symptoms
Competitive sports
Other signs of LVH
Every 12 to 18
Months
Every 5 Yrs or as per
clinical suspicion
Gersh, BJ, Maron BJ et al. JACC 2011; 58: e212 ACC/AHA Guidelines
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Evaluation of HCM by Echocardiography
Comprehensive echocardiography is
indispensable for the diagnosis and
hemodynamic assessment of HCM
Echocardiography plays an important
role in the clinical risk stratification
and also the interventional
management of the patient with HCM
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