Cardiomyopathies:

Classification and
Echocardiographic Evaluation

Harry Rakowski
Director, Hypertrophic
Cardiomyopathy Clinic
UHN: Toronto General
Hospital
University of Toronto
Dilated Cardiomyopathy
„ CAD
„ Idiopathic
„ Inflammatory
„ Toxin – Chemo
„ Valvular
„ LV Non-Compaction
„ Peripartum
 Dilated Cardiomyopathy
„ Etiology: CAD vs Other
„ Severity of LV sytolic dysfunction
„ Severity of LV diastolic dysfunction
„ Degree of RV involvement
„ Suitability for
– BiV Pacing
„ Effects of therapy
 Dilated Cardiomyopathy: A
No CHF E

PVs
PVd

Normal filling pressures at rest

 45 year old man presents with
CHF: History of remote viral illness
Significant MR
Severe RV Dysfunction
 Severe Diastolic Dysfunction

High LA Pressure:1.24 X95/7 +1.9= 20mmHG

Elevated LVEDP >15mmHg

Normal Coronaries
 SEVERE HEART FAILURE
Biplane Ejection Fraction
100
Cumulative Event Free Survival (%)
n = 86 p = 0.02
90

80 EF > 20%

70

60

50
EF < 20%

40
0 200 400 600 800 1000 1200
Days of Follow-Up
 ADDITIVE VALUE OF COMBINED LV AND RV
n = 86
Probability of Event Free Survival (%)
100 FUNCTION LV EF < 20%
90 RV FAC < 30%
80
Neither
70

60
* One
50

40

30

20
*# Both
10
0
0 200 400 600 800 1000 1200
Days of Follow-Up * p<0.05 vs. yellow group
# p<0.05 vs. green group
Prognostic Value of Mitral Velocity
Persistent restrictive pattern in DCM

Group
Group 1B
1B
100
100
Group
Group 22
80
80
p<0.0001
pts
% pts

60
60
%

40
40

20
20
Group
Group 1A
1A
00
12
12 m
m 24
24 m
m 36
36 m
m 48
48 m
m
Time
Time
Pinamonti
Pinamonti et
et al,
al, JACC
JACC 1997;29:604
1997;29:604
 Treating CHF: Evaluating Filling Pressures

85 year old man with previous Ant and Inf MI and

inoperable triple vessel CAD presents with a 3
month history of increasing shortness of breath
on exertion and ankle edema
 Treating CHF:

Increased ACE, Diuretics, Nitrates, low dose beta blocker

Treating CHF: Mitral and PV Flow
PRE POST
E 119 E 80
A 31 A 80
E/A 2.6 E/A 1
MV

PV
 Treating CHF
RVSP PRE POST

79 35

„ Mild reduction in LV size

„ Mild increase in systolic function (EF)
„ Marked decrease in LV filling pressures
„ LVEDP, LAP, RVSP
„ Marked decrease in MR
Left Ventricular Compaction
„ Altered
regions of the left ventricular
myocardium with thickened
hypokinetic segments consisting of
two layers
– Thin, compacted myocardium on the
epicardial side
– Thicker, noncompacted myocardium on
the endocardial side, with deep
trabecular recesses filled with blood
from LV cavity
35 year old woman with dyspnea
is referred for apical HCM
Heavily trabeculated apex
LV Noncompaction: Contrast
 Isolated Ventricular
Noncompaction
„ Previously described as persistent
intramyocardial sinusoids
„ Isolated ventricular noncompaction
(IVNC) – an idiopathic cardiomyopathy
characterized by
– Altered structure of the myocardial wall
– Result of failure of intrauterine compaction
of the myocardial fibers
27 year old patient with syncope and
family history of sudden death
RV Inflow Aneurysm
Prominent RV trabeculations
RV angiography
ARVD - MRI
35 year old man survived cardiac arrest.
Hx WPW, hypertension, Creatinine 160
Case
Cardiac MRI
Pathology: Fabry’s Disease
 Fabry’s
– X linked recessive lysosomal storage disease
– Deficiency alpha galactosidase
– Accumulation of glycosphingolipids in kidneys,
brain, heart, vascular endothelium, skin
– Prevalence in males 1/40,000 -1/100,000
– Usually manifests in childhood
– Diagnosis –
„ reduced alpha galactosidase activity in plasma or
leukocyte samples
„ Screening for genetic mutation

– Symptoms – neuropathy, renal failure, strokes,

angiokeratomas
 Pathology of Hypertrophic Cardiomyopathy

Myocardial Hypertrophy: Myocardial Fiber Disarray

Primarily septal Interstitial Fibrosis
Teare : Asymmetrical hypertrophy of the heart in young adults.
Br Heart J 1958.
 HCM:Phenotypic
Heterogeneity:
Genetics and Growth
Factors

„ Hypertrophy
– Minimal
– Severe
– IVS/Apical/Mid
„ Obstruction
– None
– LVOT
– RVOT
– MVO
„ Contractility
– Hyperdynamic
– End stage
„ Onset
Pathophysiology of LVOT Obstruction and MR: Grigg et al JACC 1993
 MR Jet Area vs LVOT Gradient

Yu et al JACC 2000
 Prognosis in HCM
What Can Echo Evaluate

„ Degree and location of LV hypertrophy

„ LV outflow tract obstruction (rest vs latent)
„ Systolic function
„ LA size and risk of Atrial Fibrillation
HOCM with Severe Hypertrophy

LVOTO increased Relative Risk of

NYHA 3-4 4.4

HCM CV death 1.6-2.14

Maron et al NEJM2003;348: 295-303
Autore et al JACC,2005;1076-80
 HCM: Latent (provocable) LVOT Obstruction

„ 125 patients seen 1975-2002 followed for 13.1 +/- 8.1 years
„ 73% male: mean age at presentation 45.2 +/- 16.1 yrs
„ Hypertrophy limited to
– Basal 1/3 of IVS in 57%, Basal 2/3 of IVS in 30%
– Full IVS to apex in 13% Eriksson et al TGH
Provocable LVOT Obstruction
 HCM: Latent Obstruction
Mortality and Morbidity

„ Cardiovascular Mortality 7/127 (0.4%/yr)

– Sudden cardiac death 3/7 (greater hypertrophy)
– Congestive heart failure 3/7
– Stroke 1/7
„ Morbidity 51/125 (41%) (3%/yr)
– AF 26% (LA size)
– CHF 9%
– MI 9%

Eriksson et al TGH
Mid Ventricular Obstruction
 MVO: Morbidity and Mortality
„ Mean age at presentation = 38.5 years (11-67)
„ 57% female: Family history of HCM in 47%
„ Mean follow-up: 7.1 years
CARDIAC MORTALITY:
– 3 cardiac deaths during follow-up period
– Apical aneurysm and VT: 2 patients
– Unsuccessful myectomy: 1 patient

Morbidity:
2 strokes in patients with new-onset
atrial fibrillation
Woo et al TGH
 Apical HCM

105 pts seen from 1975-2000 at TGH: 75% male

Mean age Diagnosis 46: Mean follow up 13.6 years
Family Hx HCM 28%: Present in 7% of HCM

Eriksson et al JACC 2002;39:638-45

Survival: Apical HCM vs Canadian Population
Follow up mean 13.6 yrs

%100
CA
80 ApHCM

60 10 y - 97% [CI 100 – 93] vs 97% [CI 97 – 96]

15 y - 95% [CI 100 – 90] vs 94% [CI 96 – 93]
40 20 y - 87% [CI 97 – 78] vs 93% [CI 95 – 91]
25 y - 78% [CI 93 – 64] vs 90% [CI 92 – 88]
20

0
0 5 10 15 20 25 y
105 88 60 40 26 12
Patients at risk

Annual CV mortality 0.1%: No SD: 2 deaths due to MI

 Apical HCM Cardiovascular Morbidity
40 morbid events in 32/105 patients (30.5%)
14
13
12
11
10

8
6 5
4 4 4
3
2

0
AF MI CHF VT TIA STROKE
 Apical HCM: Myocardial infarctions

ECHO MRI
Apical infarction 9/11 Normal CoronaryAngiography 9/9
Other segments involved 2/11 CAD 2/2
 Mortality in HCM
Studied 744 consecutive patients from Tuscany and Midwest
HCM related deaths in 86 (12%) over mean follow up of 8 years

Mode of Death Percent Mean age

Sudden Death 51% 45

(only 16% during
mod-severe exercise)

CHF 36% 56

CVA (91% hadAF) 13% 73

(64% had LVOTO)
Maron et al Circ 2000
 Importance of Diastolic
Dysfunction
„ Likely related to LV mass and fibrosis
„ Contributes to symptoms and prognosis
„ Likely related to development of AF
– Risk factors are age and LA Volume
„ Annular velocity Doppler tissue imaging
measurements may predict genotype in
pre-clinical disease.
LA PRESSURE by TISSUE PW-DOPPLER

Nagueh et al
1997
LAP= E/Ea x1.25+1.9
Ea

Ea
E
E
NSR
AF
 Natural History of HCM
„ Genotype is important but not widely available
and more information needed
„ Natural history better than initially feared
„ LV wall thickness predicts sudden death risk
„ Role of fibrosis and myocyte disarray: CHF
„ Low risk for certain subgroups
„ Apical HCM
„ Latent obstruction without severe hypertrophy
„ Significant morbidity: AF/CVA (LA size,LVOTO)
„ Myectomy and alcohol ablation
„ comparable for patients with only LVOT obstruction
„ Alcohol ablation takes longer to work, is slightly less
effective and has a higher rate of pacemaker. Low late CV
mortality
 Restrictive
Cardiomyopathy
„ Abnormality of diastolic function due to
increased ventricular stiffness in the
setting of normal systolic function or
proportionately milder systolic
dysfunction
„ Symptoms are due to compensatory
increase in left atrial and pulmonary
venous pressure and an inability to
increase cardiac output with exercise
 Common Etiologies
„ Infiltrative
– Amyloidosis
– Hemochromatosis
– Sarcoidosis
„ Scleroderma
„ Endomyocardial Fibrosis
„ Carcinoid Heart Disease
„ Hypereosinophilic Syndrome (Loeffler’s)
„ Endocardial Fibroelastosis
„ Radiation
„ Glycogen Storage Diseases
 45 year old man presents with
increasing dyspnea, JVP 15cm, SOA,
multiple murmurs
Pulmonary Valve
55 year old woman with CHF referred for
evaluation of HCM
 ? HCM Restrictive Physiology
Mitral Tricuspid Color M

DT 130

PV Flow

PVd ).78
 Cardiac Amyloidosis

Prognosis worse when:

„ LV thickness>14mm
„ Restrictive physiology
„ LV Dysfunction
 DCM HCM RCM ARV

LVE ++ - - -
↑ LV Wall - ++ +/- -
Thickness

↑ LV Mass + + +/- -
↓ LVEF
Restrictive +/- - ++ +/-
Doppler
 Restrictive
Cardiomyopathy Doppler

E:A Ratio IVRT

E:A > 1.5 IVRT 58msec

 76 year old woman presents with
increasing MR and dyspnea and fatigue
DDD AAI
Pathopysiology of LVOT Obstruction

Mayo