Download CARDIOMYOPATHIES

CARDIOMYOPATHIES
Dr. M. A. Sofi MD; FRCP (London);
FRCPEdin; FRCSEdin
Cardiomyopathies
• 1980 World Health Organization (WHO) defined
cardiomyopathy as "heart muscle diseases of
unknown cause" to distinguish cardiomyopathy
from cardiac dysfunction due to known
cardiovascular entities such as hypertension,
ischemic heart disease, or valvular disease
• 1995 As a result, the WHO/International Society
and Federation of Cardiology (ISFC) set a Task
Force on the Definition and Classification of the
Cardiomyopathies
Cardiomyopathy
WHO Classification
1. Dilated (DCM)
• Enlarged
• Systolic dysfunction
2. Hypertrophic (HCM)
• Thickened
• Diastolic dysfunction
3. Restrictive (RCM)
• Diastolic dysfunction
3. Arrhythmogenic RV
Cardiomyopathy/Dysplasia
(AVRCD/D)
• Fibrofatty replacement
4. Unclassified
• Fibroelastosis
• LV no compaction
DCM: Etiology
• Ischemic
• Valvular
• Hypertensive
• Familial
• Idiopathic
• Inflammatory
Infectious
• Viral – picornovirus, Cox B, CMV,
HIV
• Ricketsial - Lyme Disease
• Parasitic - Chagas’ Disease,
Toxoplasmosis
Toxic
• Alcohol, Anthracyclins (adriamycin),
Cocaine, heavy metals
Infiltrative
• Hemochromatosis , Amylodosis
Non-infectious
• Collagen Disease (SLE, RA)
• Peripartum
Metabolic
• Endocrine –thyroid dz,
pheochromocytoma, DM,
acromegaly,
Nutritional
• Thiamine, selenium, carnitine
Neuromuscular
(Duchene dystrophy, Myotonic
dystrophy
DCM: Etiologies
Cardiomyopathy associated with
collagen-vascular disease
• Several collagen-vascular diseases
have been implicated in the
development of cardiomyopathies.
These include the following:
• Rheumatoid arthritis
• Systemic lupus erythematosus
• Progressive systemic sclerosis
• Polymyositis
• HLA-B12–associated cardiac
disease
• Diagnosis is based on identification
of the underlying disease in
conjunction with appropriate
clinical findings of heart failure.
Granulomatous cardiomyopathy
(sarcoidosis)
• End myocardial biopsy may be
helpful especially in sarcoidosis in
which the myocardium may be
involved.
• Involvement may be patchy,
resulting in a negative biopsy
finding.
• The diagnosis can also be made if
some other tissue diagnosis is
possible or available in
conjunction with the appropriate
clinical picture for heart failure.
• Cardiac involvement in
sarcoidosis reportedly occurs in
approximately 20% of cases.
Dilated Cardiomyopathy
• DCM is characterized by dilatation
and impaired contraction of one or
both ventricles.
• Affected patients have impaired
systolic function and clinical
presentation is usually with features.
of heart failure
• When the presenting manifestations
include conduction abnormalities,
atrial and/or ventricular arrhythmias,
and sudden death, then an
arrhythmogenic cardiomyopathy
caused by mutations in desmosomal,
ion channel, and the lamin gene
should be considered
Dilated cardiomyopathy
chest radiograph
This plain frontal radiograph of the
chest demonstrates marked
enlargement of the cardiac
silhouette compatible with a
dilated cardiomyopathy..
Dilated Cardiomyopathy
DILATED CARDIOMYOPATHY: ECHOCARIOGRAPHIC FINDINGS
• The most distinctive (2D)
dimensional echocardiographic
findings in a DCM are:
• Left ventricular spherical
dilatation
• Normal or reduced wall thickness,
• Poor systolic wall thickening,
and/or reduced inward endocardial
systolic motion and image.
• All of the systolic indices are
reduced, including left ventricular
fractional shortening, fractional
area change, and ejection fraction.
• Four chamber cardiac enlargement
is often present .
Left ventricle in cardiomyopathy
4 chamber view of 2D echocardiogram:
Panel A – Normal heart
Panel B - Cardiomyopathy
The heart is more spherical than its
normal counterpart; the developing of a
spherical configuration is fairly typical
of cardiomyopathy.
DCM: Toxic
Alcoholic cardiomyopathy
• Chronic use
• Reversible with abstinence
• Mechanism?:
–Myocyte cell death and fibrosis
–Directly inhibits:
• mitochondrial oxidative phosphorylation
• Fatty acid oxidation
DCM: Inherited
Familial Cardiomyopathy
• Familial DCM is diagnosed in patients with idiopathic
cardiomyopathy who have 2 or more first- or second-degree
relatives with the same disease (without defined etiology).
• 30% of ‘idiopathic’
• Inheritance patterns
– Autosommal dom/rec, x-linked, mitochondrial
• Associated phenotypes:
– Skeletal muscle abn, neurologic, auditory
• Mechanism:
– Abnormalities in:
• Energy production
• Contractile force generation
– Specific genes coding for:
• Myosin, actin, dystophin…
DCM: Peripartum
Peripartum cardiomyopathy (PPCM,
also called pregnancy-associated
cardiomyopathy) is a rare cause of
heart failure (HF) that affects women
late in pregnancy or in the early
puerperium
• Presentation of PPCM is variable
and similar to that in other forms of
systolic HF due to cardiomyopathy .
• Patients most commonly complain
of dyspnea; other frequent symptoms
include cough, orthopnea,
paroxysmal nocturnal dyspnea, pedal
edema, and hemoptysis.
Diagnosis (PPCM) is based upon three
clinical criteria:
• Development of heart failure (HF)
toward the end of pregnancy or in
the months following delivery
• Absence of another identifiable
cause of HF
• left ventricular (LV) systolic
dysfunction with an LV ejection
fraction (LVEF) generally <45
percent
Dilated cardiomyopathy: Signs & Symptoms
•
•
•
•
Fatigue
Dyspnea on exertion
Shortness of breath
Orthopnea, paroxysmal
nocturnal dyspnea
• Increasing edema, weight, or
abdominal girth
On physical examination, look
for signs of heart failure and
volume overload. Assess vital
signs with specific attention to
the following:
• Tachypnea
• Tachycardia
• Hypertension
Dilated cardiomyopathy: Signs & Symptoms
Other pertinent findings are
determined by the level of
cardiac compensation or decompensation
• Signs of hypoxia (e.g.,
cyanosis, clubbing)
• Jugular venous distension
(JVD)
• Pulmonary edema (crackles
and/or wheezes)
• S3 gallop
• Enlarged liver
• Peripheral edema
Look for the following on
examination of the neck:
• Jugular venous distention (as
an estimate of central venous
pressure)
• Hepatojugular reflux
• a wave
• Large cv wave (observed with
tricuspid regurgitation)
• Goiter
Dilated Cardiomyopathy: Signs & Symptoms
Findings on examination of
the heart may include the
following:
• Cardiomegaly (broad and
displaced point of
maximal impulse, right
ventricular heave)
• Murmurs (with
appropriate maneuvers)
• S2 at the base (paradoxical
splitting, prominent P2),
• S3, and S4
• Tachycardia
• Irregularly irregular rhythm
• Gallops
DCM: Laboratory work up
The workup in a patient
with suspected
cardiomyopathy may
include the following:
• Complete blood count
• Metabolic panel
• Thyroid function tests
• Cardiac biomarkers
• B-type natriuretic peptide
assay
• Chest radiography
• Echocardiography
• Cardiac magnetic resonance
imaging (MRI)
• Electrocardiography (ECG)
Management:
Treatment of dilated cardiomyopathy is essentially the same as
treatment of chronic heart failure (CHF).
Drug classes used include
the following:
• Angiotensin-converting
enzyme (ACE) inhibitors
• Angiotensin II receptor
blockers (ARBs)
• Beta-blockers
• Aldosterone antagonists
•
•
•
•
•
Cardiac glycosides
Diuretics
Vasodilators
Antiarrhythmics
Human B-type natriuretic
peptide
• Inotropic agents
• Anticoagulants may be used
in selected patients.
Treatment:
Surgical options for patients with disease refractory to medical
therapy include the following
• Left ventricular assist devices
• Cardiac resynchronization therapy (biventricular
pacing)
• Automatic implantable cardioverter-defibrillators
• Ventricular restoration surgery
• Heart transplantation
Hypertrophic Cardiomyopathy
• Hypertrophic cardiomyopathy (HCM)
is a genetic disorder that has a variable
presentation and carries a high
incidence of sudden death.
• Its hallmark is myocardial
hypertrophy that is inappropriate and
often asymmetrical and that occurs in
the absence of an obvious inciting
hypertrophic stimulus.
Signs and symptoms
• Signs and symptoms of HCM can
include the following:
• Sudden cardiac death (the most
devastating presenting manifestation)
• Dyspnea (the most common
presenting symptom)
Signs and symptoms
• Angina
• Palpitations
• Orthopnea and paroxysmal
nocturnal dyspnea (early signs of
congestive heart failure [CHF])
• CHF (relatively uncommon but
sometimes seen)
• Dizziness
Hypertrophic Cardiomyopathy
Physical findings may include the
following:
• Double apical impulse or triple
apical impulse (less common)
• Normal first heart sound; second
heart sound usually is normally
split but is paradoxically split in
some patients with severe outflow
gradients; S3 gallop is common in
children but signifies
decompensated CHF in adults; S4
is frequently heard
• Jugular venous pulse revealing a
prominent a wave
• Double carotid arterial pulse
• Apical precordial impulse that is
displaced laterally and usually is
abnormally forceful and enlarged
• Systolic ejection crescendodecrescendo murmur
• Holosystolic murmur at the apex and
axilla of mitral regurgitation
• Diastolic decrescendo murmur of
aortic regurgitation (10% of patients)
Hypertrophic Cardiomyopathy
Signs and symptoms
• Signs and symptoms of
HCM can include the
following:
• Sudden cardiac death (the
most devastating
presenting manifestation)
• Dyspnea (the most
common presenting
symptom)
•
•
•
•
Syncope
Angina
Palpitations
Orthopnea and paroxysmal
nocturnal dyspnea (early
signs of congestive heart
failure [CHF]
• CHF (relatively uncommon
but sometimes seen)
• Dizziness
Hypertrophic Cardiomyopathy
Physical findings may include the
following:
• Double apical impulse or triple
apical impulse (less common)
• Normal first heart sound; second
heart sound usually is normally
split but is paradoxically split in
some patients with severe outflow
gradients; S3 gallop is common in
children but signifies
decompensated CHF in adults; S4
is frequently heard
• Jugular venous pulse revealing a
prominent a wave
• Double carotid arterial pulse
• Apical precordial impulse that is
displaced laterally and usually is
abnormally forceful and enlarged
• Systolic ejection crescendodecrescendo murmur
• Holosystolic murmur at the apex
and axilla of mitral regurgitation
• Diastolic decrescendo murmur of
aortic regurgitation (10% of
patients)
Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy: Diagnosis
No specific laboratory blood tests
are required in the workup. Genetic
testing is not yet widely available
but is becoming increasingly so.
• Two-dimensional (2-D)
echocardiography is diagnostic for
HCM. Findings may be
summarized as follows:
• Abnormal systolic anterior leaflet
motion of the mitral valve
• Left ventricular hypertrophy
(LVH)
• Left atrial enlargement
• Small ventricular chamber size
• Septal hypertrophy with septalto-free wall ratio greater than
1.4:1
• Mitral valve prolapse and mitral
regurgitation
• Decreased midaortic flow
• Partial systolic closure of the
aortic valve in midsystole
Hypertrophic Cardiomyopathy: Diagnosis
Other imaging modalities that may
be useful include the following:
• Chest radiography
• Radionuclide imaging
• Cardiac MRI: Particularly useful
when echocardiography is
questionable, particularly with
apical hypertrophy
Cardiac catheterization (to
determine the degree of outflow
obstruction, cardiac
hemodynamics, the anatomy and
diastolic characteristics of the left
ventricle, and the coronary
anatomy)
Electrocardiographic findings:
• ST-T wave abnormalities and LVH
• Axis deviation (right or left)
• Conduction abnormalities (P-R
prolongation, bundle-branch block)
• Sinus bradycardia with ectopic atrial
rhythm
• Atrial enlargement
• Abnormal and prominent Q wave in
the anterior precordial and lateral limb
leads, short P-R interval with QRS
suggestive of preexcitation, atrial
fibrillation (poor prognostic sign), and
a P-wave abnormality (all uncommon)
HCM: Management
The following caveats are
Pharmacologic therapy for
warranted:
HCM may include the
• Avoid inotropic drugs if
following:
possible
• Beta blockers
• Calcium channel blockers • Avoid nitrates and
sympathomimetic amines,
• Diltiazem, amiodarone, and
except in concomitant
disopyramide (rarely)
coronary artery disease
• Antitussives to prevent
• Avoid digitalis
coughing
• Use diuretics with caution
HOCM: Management
Surgical and catheter-based
therapeutic options include the
following:
• Left ventricular myomectomy
• Mitral valve replacement
• Permanent pacemaker
implantation
• Catheter septal ablation
• Placement of an implantable
cardioverter defibrillator
Complications
Complications of HCM may
include the following:
• Congestive heart failure
• Ventricular and supraventricular
arrhythmias
• Infective mitral endocarditis
• Atrial fibrillation with mural
thrombus formation
• Sudden death
Restrictive cardiomyopathy (RCM)
• The World Health Organization (WHO) defines RCM as a
myocardial disease characterized by restrictive filling and
reduced diastolic volume of either or both ventricles with
normal or near-normal systolic function and wall thickness.
• Increased interstitial fibrosis may be present.
• This disease may be idiopathic or associated with other
diseases (e.g., amyloidosis and endomyocardial disease with
or without hypereosinophilia).
• The course of RCM varies, depending on the pathology and
treatment, but is often unsatisfactory.
Restrictive cardiomyopathy (RCM)
• The importance of an accurate diagnosis of RCM is to distinguish
this condition from constrictive pericarditis, a clinically and
hemodynamically similar entity.
• It also presents with restrictive physiology but is frequently curable
by surgical intervention.
• This distinction is difficult to make but crucial because the treatment
options and prognoses for the 2 conditions differ drastically.
• Echocardiography and cardiac magnetic resonance imaging have
been reported to be comparable in their ability to differentiate RCM
from constrictive pericarditis.
• Idiopathic RCM may be caused by EMF or by Loeffler eosinophilic
endomyocardial disease.
Secondary Restrictive cardiomyopathy(RCM)
Secondary restrictive cardiomyopathy may be caused by:
• Hemochromatosis
• Amyloidosis (the most common cause of RCM in the United
States)
• Sarcoidosis
• Progressive systemic sclerosis (scleroderma)
• Carcinoid heart disease
• Glycogen storage disease of the heart
• Radiation
• Metastatic malignancy
• Anthracycline toxicity
Secondary Restrictive cardiomyopathy(RCM)
Treatment:
• Restrictive cardiomyopathy (RCM) has no specific treatment.
• Therapies directed at individual causes of RCM have been proven to be
effective.
• Examples of this include corticosteroids for sarcoidosis and Loeffler
endocarditis,
• Endocardiectomy for endomyocardial fibrosis and Loeffler endocarditis,
• Phlebotomy and chelation for hemochromatosis
• Chemotherapy for amyloidosis.
• The mainstays of medical treatment include diuretics, vasodilators, and
angiotensin-converting enzyme inhibitors (ACEs) as indicated, as well as
anticoagulation (if not contraindicated).[14]
• In selected patients, permanent pacing, LVAD therapy, and transplantation
(heart or heart-liver) may be considered.