Download Cardiomyopathies

Cardiomyopathies
Faculty of Medicine
University of Brawijaya
Malang
Definition
“A heart muscle disease, often of
unknown cause …”
Cardiomyopathy
• Greek “kardia” heart + “myo” muscle
“patheia” suffering/disease
• 1980 WHO: “heart muscle disease of unknown
cause”
• 1995 WHO/Task force: “diseases of the
myocardium associated with cardiac dysfunction”
Classification
•
•
•
•
•
etiology
gross anatomy
histology
genetics
biochemistry
•
•
•
•
•
immunology
hemodynamics
functional
prognosis
treatment
WHO Classification
• Unknown cause
(primary)
–
–
–
–
Dilated
Hypertrophic
Restrictive
unclassified
• Specific heart muscle
disease (secondary)
–
–
–
–
–
–
Infective
Metabolic
Systemic disease
Heredofamilial
Sensitivity
Toxic
Br Heart J 1980; 44:672-673
Functional Classification
• Dilatated (congestive, DCM, IDC)
– ventricular enlargement and syst dysfunction
• Hypertrophic (IHSS, HCM, HOCM)
– inappropriate myocardial hypertrophy
in the absence of HTN (hypertension) or
aortic stenosis
• Restrictive (infiltrative)
– abnormal filling and diastolic function
Cardiomyopathies
Ischemic
Idiopathic Dilated
HF-Dilated
Konstam MA. J Card Failure. 2003.
Hypertrophic CM
Hypertensive
HF-Non Dilated
Characteristics of the three types
of cardiomyopathy
Types
LV wall
LV cavity
Systolic
Diastolic
Prognosis
contrac-tility Compli-ance 10 year
survival rate
Dilated
Cardiomyopathy
Thin
Large
↓
Normal to ↓*
30-40%
Small
↑
↓
70%
Normal
Normal to ↓
↓↓
50% (idiopathic type)
Hypertro-phic Thick
Cardiomyopathy
Restrictive
Cardiomyopathy
Normal to ↑
Contractility or compliance may be normal early in the disease state but may become abnormal
subsequently
General approach to a patient with
Cardiomyopathy
• Define the problem:
– 1. Failure? – due to a low cardiac output state
(Dilated CM) or obstruction to LV filling
(restrictive CM)
– 2. Arrhythmia? – due to supraventricular or
ventricular arrhythmias.
– 3. Syncope?- due to obstruction in LV outflow
tract (HOCM) and/or arrhythmias especially
slow rates.
Dilated
Cardiomyopathy
Dilated Cardiomyopathy
• The heart is dilated and has impaired
function
• The coronary arteries are normal.
Idiopathic Dilated Cardiomyopathy
Observed Survival of 104 Patients
120
104
100
80
72
60
56
51
45
40
37
35
31
24
20
19
16
0
0
1
2
3
4
5
6
Years
Am J Cardiol 1981; 47:525
7
8
9
10
Incidence and Prognosis
• 3-10 cases per 100,000
• 20,000 new cases per year in the U.S.A.
• death from progressive pump failure
1-year
2-year
5-year
25%
35-40%
40-80%
• stabilization observed in 20-50% of patient
• complete recovery is rare
Features for Diagnosis of Dilated
Cardiomypathy
• Signs and symptoms of systolic heart
failure
• Echocardiography shows dilated LV with
global hypokinesia
• Normal coronary artery by angiography
• Presence of predisposing factors such as
alcoholism, malnutrition etc
Etiologic classification of the
Dilated Cardiomyopathy
I.
II.
Idiopathic
Inflammatory
A.
Infectious
A.
B.
C.
D.
B.
Viral
Bacterial
Mycobacterial
Others: Parasitic, Rickettsial, Fungal
Non-infectious
A.
B.
C.
D.
Peripartal cardiomyopathy
Autoimmune disease
Hypersensitivity reaction
Tranplantation rejection
Etiologic classification of the
Dilated Cardiomyopathy
III. Toxic agents
A. Alcohol
B. Methamphetamines/ Cocaine
C. Chemotherapeutic agents (Doxorubicin)
D. Cigarette smoking
E. Elemental compounds
D. Cathecolamines
Etiologic classification of the
Dilated Cardiomyopathy
IV. Metabolic
A. Malnutrition
B. Endocrinologic: Thyrotoxicosis
C. Electrolyte abnormalities
D. Cigarette smoking
E. Elemental compounds
F. Cathecolamines
Etiologic classification of the
Dilated Cardiomyopathy
V. Familial cardiomyopathy
A. Neuromyopathic
1. Progressive muscular dystrophy
2. Myotonic muscular dystrophy
3. Friedrich’s ataxia
B. Hereditary dilated Cardiomyopathy
Clinical features
• Progressive biventricular heart failure
leads to symptoms
– Fatigue
– Paroxysmal nocturnal dyspnea, orthopnea,
dyspnea
– Peripheral edema
– Ascites
Clinical history
• History of specific exposure to etiologic
agents (e.g alcohol, methamphetamine)
• Symptoms of left sided failure, then right
sided heart failure
• Chest pain may be present in the absence
of ischemic heart disease
Physical examination
• Similar to those of congestive heart failure
• Dilated heart, distended neck veins with
functional MR murmur due mitral annular
dilatation
History and Physical Examination
• Symptoms of heart failure
– pulmonary congestion (left HF)
dyspnea (rest, exertional, nocturnal), orthpnea
– systemic congestion (right HF)
edema, nausea, abdominal pain, nocturia
– low cardiac output
fatigue and weakness
• hypotension, tachycardia, tachypnea, JVD
(jugular venous distention)
Clinical features
• Other complications secondary to the
progressive dilatation of the ventricles
include:
– Mural thrombi with systemic or pulmonary
embolization
– Dilatation of the tricuspid and mitral valve rings
leading to functional valve regurgitation
– Atrial fibrillation and other arrhythmias
– Ventricular tachyarrhythmias and sudden death
Diagnostic tests
1. ECG: non-specific changes; may show LVH,
occasionally LBBB
2. Chest X-ray: multichamber dilatation with congestive
features
3. Echocardiography: multichamber dilatation, LV wall
motion abnormalities usually global hypokinesia
4. Coronary angiography: normal coronary arteries
5. Angiography indicated only to rule out ischemic heart
disease (“ischemic” cardiomyopathy)
Echocardiography
• Evaluation of dilated ventricles
• Evaluation of regurgitant valves
• Evaluation of thrombus
Normal echo

Management
• Search and treat any underlying cause ( e.g stop
alcohol)
• Treat heart failure (diuretics, ACE-inhibitor,
nitrates/hydralazine combination)
• Treat any arrhythmias
• Prevention of sudden death with placement of
implantable cardioverter defibrillator (ICD) is not
recommended
• Anticoagulate with warfarin to prevent mural thrombi
• If cardiac failure does not respond to the above steps 
if suitable candidate  cardiac transplantation
Predicting Prognosis in IDC
Predictive
Possible
Not Predictive
Clinical factors
symptoms
age
duration
viral illness
Hemodynamics
LVEF
Cardiac index
LV cond delay
complex VPC
alcoholism
peripartum
family history
LV size
atrial pressure
AV block
atrial fibrillation
myofibril volume
Dysarrhythmia
Histology
Neuroendocrine
simple VPC
other findings
hyponatremia
plasma norepinephrine
atrial natriuretic factor
VPC: ventricular premature contraction
Clinical Indications for
Endomyocardial Biopsy
• Definite
– monitoring of cardiac allograft rejection
– monitoring of anthracycline cardiotoxicity
• Possible
– detection and monitoring of myocarditis
– diagnosis of secondary cardiomyopathies
– differentiation between restrictive and
constrictive heart disease
Hypertrophic cardiomyopathy
Types of hypertrophic
cardiomyopathy
• 1. Obstructive type. Synonym: idiopatthic
hypertrophic subaortic stenosis
• 2. Non obstructive type
Features for diagnosis
• Dyspne or syncope
• May have a family history of hypertrophic
cardiomyopathy in 50% of cases
• Characteristic systolic ejection murmur at the
left sternal area which increases with valsalva
maneuver (in obstructive type)
Features for diagnosis (continued)
• Marked hypertrophy of the left ventricle
involving the interventricular septum and the LV
outflow tract in the absence of other causes of
hypertrophy
• Echocardiography shows interventricular
septum to posterior LV wall ratio > 1.3:1.
Hypertrophic obstructive
cardiomyopathy
• Characterized by asymmetrical hypertrophy of the
cardiac septum – the cardiac septum is hypertrophied
compared to the free wall of the left ventricle.
• The most common cause of heart-related sudden death
in those under 30 years old.
• HOCM is inherited as an autosomally dominant trait with
equal sex incidence
• The genetic abnormality is the subject of much current
research, and it seems that different genes may be
involved in different families
Hypertrophic obstructive
cardiomyopathy
• The myocytes of the left ventricle are
abnormally thick when examined
microscopically  left ventricular filling
more difficult than normal and grossly
disordered
Pathophysiology
• Systole
– dynamic outflow tract gradient
• Diastole
– impaired diastolic filling,  filling pressure
• Myocardial ischemia
–
–
–
–
 muscle mass, filling pressure, O2 demand
 vasodilator reserve, capillary density
abnormal intramural coronary arteries
systolic compression of arteries
65%
35%
10%
www.kanter.com/hcm
Natural History
• annual mortality 3% in referral centers
probably closer to 1% for all patients
• risk of SCD higher in children
may be as high as 6% per year
majority have progressive hypertrophy
• clinical deterioration usually is slow
• progression to DCM occurs in 10-15%
Risk Factors for SCD (sudden
cardiac death)
•
•
•
•
•
•
•
•
Young age (<30 years)
“Malignant” family history of sudden death
Gene mutations prone to SCD (ex. Arg403Gln)
Aborted sudden cardiac death
Sustained VT or SVT
Recurrent syncope in the young
Nonsustained VT (Holter Monitoring)
Brady arrhythmias (occult conduction disease)
Br Heart J 1994; 72:S13
Clinical features
• Symptoms usually begins in the third and
fourth decades of life.
• Four main symptoms:
– Angina – due to the increased oxygen demands of the
hypertrophied muscle
– Palpitations- atrial fibrillations and/or ventricular arrhythmias
– Syncope and sudden death – due to LVOT obstruction by the
hypertrophied septum or to ventricular arrhythmia
– Orthopnea/paroxysmal nocturnal dyspnea/dyspnea – due to
high end diastolic pressure  pulmonary edema
Clinical features
• The signs to watch for are:
–
–
–
–
–
Jerky peripheral pulse
Double apical beat (bisferiens pulse)
Prominent “a” wave in jugular
Systolic thrill
Systolic murmur
Diagnosis and investigations
• Electrocardiography
• Continuous ambulatory
electrocardiography (Holter)
• Echocardiography
Electrocardiography
• The EKG is usually abnormal
• T wave and ST segment abnormalities
• LVH (Left ventricular hypertrophy)
Holter
• Ventricular arrhythmias
Echocardiography
• The most useful investigation
• Characteristic echocardiography findings:
– Increased mass of the left ventricle with
asymmetric hypertrophy of the septum
– Abnormal systolic anterior motion of the
anterior leaflet of the mitral valve
– Calcification of the mitral valve
– Left ventricular outflow tract obstruction
Prognosis
• Children who are diagnosed at less than 14
years of age  poor prognosis and high
incidence of sudden death; 71% are
asymptomatic
• Adults : better prognosis but have a higher
mortality rate than general population
• Progressive cardiac failure with cardiac
dilatation
•
Management
• Drug management
– Avoid vasodilators because it worsen the gradient
obstruction. HOCM patient should not receive
nitrates
– Avoid drugs for systolic heart failure (3 D’s): Digoxin,
Ace-inhibitors (vaso-Dilators) and Diuretics are
contra-indicated for the obstructive type of
hypertrophic cardiomyopathy
– Beta-blockers are used, negative inotropic effect acts
to decrease the contractility of the hypertrophied
septum and reduce the outflow tract obstruction
Management
• Drug management
– Anti-arrhythmia is given for ventricular and
atrial arrhythmias.
– ICD (implantable cardioverter defibrillator)
should be placed for any patient at risk for
sudden death
Management
• Dual chamber pacing
– This reduces the outflow tract gradient by pacing the
RV apex and therefore altering the pattern of septal
motion
• Surgery
– Only used when all other treatments have failed
– Myomectomy on the abnormal septum
– Occluding the septal artery (new catheter technique
to infarct the septum)
– Injecting a small amount of alcohol
Recommendations for Athletic Activity
• Avoid most competitive sports (whether
or not symptoms and/or outflow gradient
are present)
• Low-risk older patients (>30 yrs) may
participate in athletic activity if all of the
following are absent
Recommendations for Athletic Activity
• Low-risk older patients (>30 yrs) may participate in
athletic activity if all of the following are absent
–
–
–
–
–
–
–
–
–
ventricular tachycardia on Holter monitoring
family history of sudden death due to HCM
history of syncope or episode of impaired consciousness
severe hemodynamic abnormalities, gradient 50 mmHg
exercise induced hypotension
moderate or severe mitral regurgitation
enlarged left atrium (50 mm)
paroxysmal atrial fibrillation
abnormal myocardial perfusion
Restrictive cardiomyopathy
Restrictive Cardiomyopathy
• Least common in developed countries
• Much more common in third world countries in Africa
and South East Asia due to increased fibrosis of the
endocardium secondary to infection
• The ventricular walls are excessively stiff and impede
ventricular filling  increased end diastolic pressure.
The systolic function on the ventricle is often normal
Possible causes of restrictive
cardiomyopathy
I.
Infiltrative diseases
A. Amyloidosis
B. Hemochromatosis
C. Sarcoidosis
D. Glycogen storage disease (in pediatric age group)
I. Endocardial – Obliterative disease
A. Endomyocardial
B. Fibrosis
With eosinophilia (Loeffler’s syndrome)
With eosinophilia
Possible causes of restrictive
cardiomyopathy
III. Interstitial disease
A. Idiopathic
B. Familial
C. Radiation-induced
D. Chronic allograft rejection
Clinical features of restrictive
cardiomyopathy
• Most commonly present as right sided heart
failure symptoms
– Dyspnea, paroxysmal nocturnal dyspnea, and fatigue
due to poor cardiac output
– Peripheral edema and ascites
– Elevated jugular venous pressure with a positive
Kussmaul’s sign (increase in jugular venous
pressure during inspiration)
– Up to one-third of patients: thromboembolic
complications or conduction disturbances
Pathophysiology
• Diastolic dysfunction in diastolic heart failure:
increasing stiffness of the myocardium causes
severe diastolic non-compliance of both
ventricles. Thus, LV and RV filling pressure are
above normal causing pulmonary congestion
and right-sided failure
• As the disease progresses, systolic function is
also compromised
Restriction vs Constriction
History can provide important clues
• Constrictive pericarditis
– history of TB, trauma, pericarditis, collagen
vascular disorders
• Restrictive cardiomyopathy
– amyloidosis, hemochromatosis
• Mixed
– mediastinal radiation, cardiac surgery
Diagnostic tests
1. ECG: non specific changes, QRS
voltages may be low because of the
infiltrative process
2. Chest X-ray: may show dilated left atrium
and right atrium; pulmonary venous
congestion, pleural effusion
Diagnostic tests
3. Echocardiography:
May show LV hypertrophy and RV
hypertrophy but with no dilatation of
the ventricles. Both atria are frequently
dilated due to increase stiffness in the
ventricles. Doppler signs of diastolic
dysfunction suggestive of reduced
ventricular compliance
Diagnostic tests
4. Cardiac catheterization: frequently not
necessary
5. Cardiac biopsy: Low yield but may be useful in
selected diseases with specific treatment (e.g
hemochromatosis, sarcoidosis)
Low voltage ECG’s with LV hypertrophy by
echocardiography is suggestive of restrictive
cardiomyopathy
Management
• Presentation is similar to that of
constrictive pericarditis. Often a history of
pericarditis, TB, radiation or surgery will
favor constrictive pericarditis.
• The condition usually progresses towards
death relatively quickly
• Most patients do not survive 10 years
after diagnosis.
Treatment
• No satisfactory medical therapy
• Drug therapy must be used with caution
– diuretics for extremely high filling prssures
– vasodilators may decrease filling pressure
– Ace-inhibitors and calcium channel blockers
are of uncertain benefit.
– ? Calcium channel blockers to improve
diastolic compliance
– digitalis and other inotropic agents are not
indicated
Prognosis
• Poor prognosis for patients with
amyloidosis
• Generally declining to zero survival at 4
years.
• For idiopathic restrictive cardiomyopathy,
10 year survival is about 50%