CARDIOMYOPATHIES

CLASSIFICATION,ETIOLOGY,TREATMENT

Dr. Mohanad Saleh

Internal Medicine Resident
Hebron Gov. Hospital
Cardiomyopathies
The cardiomyopathies are a group of diseases
that primarily effect the heart muscles and are
not the result of congenital, acquired vulvular,
hypertensive, coronary arterial, or pericardial
abnormalities.

The term cardiomyopathy should be restricted

to the conditions which primarily effect the
myocardium.
CARDIOMYOPATHY

CLASSIFICATION
Two fundamental forms of cardiomyopathy
are recognised
1)primary:- consisting of heart muscle disease
predominantly involving the myocardium
and/or of unknown cause.
2)secondary:-myocardial disease of unknown
cause or associated with systemic disease(eg;
chronic alcohol use,amyloidosis)
Cardiomyopath y

CARDIOMYOPATHY

ETIOLOGIC CLASSFICATION
Primary myocardial involvement:-
1.Idiopathic(D,R,H)
2.Familial(D,R,H)
3.Eosinophilic endomyocardial
fibrosis(R)
4. Endomyocardial fibrosis(R)
CARDIOMYOPATHY

CLASSIFICATION(contd..)

Secondary myocardial involvement:-

Infective(D): viral myocarditis,bacterial myocarditis, fungal
myocarditis,protozoal, metazoal, rickettsial, spirochetal
myocarditis.
Metabolic(D):
Familial storage disease(D,R): glycogen storage disease,
mucopolysachcharidosis, hemochromatosis,fabrys disease
Deficiency(D): elecrolytes,nutrional
Connective tisssue disease: systemic lupus
erythematosus,polyarteritis nodosa,rheumatoid
arthritis,progressive systemic sclerosis, dermatomyositis
Infiltrations & granulomas(R,D): amyloidosis,
sarcoidosis,malignancy
CARDIOMYOPATHY

CLASSFICATION (CONTD..)
Neuromuscular: muscular dystrophy, myotonic
dystrophy,friedrichs ataxia(H,D)
Sensitivity & toxic reaction(D):
alcohol,drugs,radiation
Peripartum heart disease
Clinical classification of cardiomyopathy

1.Dilated cardiomyopathy:
Left and/or right ventricular enlargement
Impaired systolic function
Congestive cardiac failure
Arrhythmias, emboli
2.Restrictve cardiomyopathy:
Endomyocardial scarring or myocardial infiltration
resulting in restriction to left and/or right ventricular
filling
3.Hypertrophic cardiomyopathy:
Dysproprtionate left ventricular hypertrophy,typically
involving the septum more than the free wall with or
without an intraventricular systolic pressure
gradiant,ususally of a non dilated ventricular cavity.
Dilated cardiomyopathy
DCM
About one in three cases of heart failure is due to
DCM
Left and/or right ventricular systolic pump
function is impaired leading to progressive
dilatation
Most of the cases are of unknown etiology and is
termed as idiopathic DCM
Secondary Causes include ischaemia,alcoholic
peripartum,post infectious, viral
Most common of all cardiomyopathies.
DCM
 Ischemic: thinned, scarred
tissue
DCM--incidence
Prevalence is 36 per 100,000 population
Third most common cause of heart failure
Most frequent cause of heart transplantation
DCM accounts for approximately 10,000
deaths and 46,000 hospitalizations per year in
the US
Spontaneous recovery occur in one-quarter
of patients
Genetic consideration
One-fifth to one third of patients have familial
forms of DCM
Mutation in >20 genes,transmitted in AD
fashion. Most commonly genes encoding
Sarcomeric proteins,such as alpha cardiac
actin, beta and alpha myosin, heavy chain
alpha myosine,troponin T, I &C.
DCM
CLINICAL MENIFESTATION:
Highest incidence in middle age
Blacks 2x more frequent than whites
Men 3x more frequent than women
Symptoms may be gradual in onset
Acute presentation
Misdiagnosed as viral URI in young adults
Uncommon to find specific myocardial disease
on endomyocardial biopsy
DCM
Clinical Manifistation:
Symptoms/Signs of heart failure
Pulmonary congestion (left heart failure)
dyspnea (rest, exertional, nocturnal), orthopnea
Systemic congestion (right heart failure)
edema, nausea, abdominal pain, nocturia
Low cardiac output
Hypotension, tachycardia, tachypnea
Narrow pulse pressure
Elevated JVP
Fatigue and weakness
Arrhythmia
Atrial fibrillation, conduction delays, complex PVCs, sudden death
DCM
DIAGNOSTICS
CXR (enlarged heart, CHF)
Electrocardiogram (tachycardia, A-V block, LBBB, NSSTT
changes, PVCs)
24-hour Holter monitor
if lightheadedness, palpitation, syncope
Echocardiogram,CTI,CMRI(left ventricular dilation,with
normal or minimally thickened or,thinned walls, global
hypokinesis, low EF)
Elevated BNP
Cardiac catheterization (R/O CAD) Myocardial biopsy, rare
if age >40, ischemic history, high risk profile, abnormal ECG

Myocardial biopsy(rare)
DCM
TREATMENT:
Majority particularly>50 yrs die within 4years of onset
Spontaneous improvent or stabilization in one-quarter
Death due to progressive HF,V-tach
SCD is a constant threat
Systemic embolization is a concern
Alcohol should be avoided. As should the CCBs,NSAIDs
Avoid antiarrhythmics
Salt restriction
Fluid restriction
 Initiate standard treatment of HF
medical therapy
ACE inhibitors
diuretics
Digoxin
Hydralazine/nitrate combination
Anticoagulation prophylaxis(EF <30%, hx of embolic
events)
DCM
TREATMENT CONTD..
Implantable cardiac defibrilator
Cardiac transplantation
This disorder is the most common indication for cardiac
transplantation
Survival after transplant is
80% one year
70% 5 years

Left Ventricular Reduction Procedures

LV-reshaping
Some other forms of DCM
ALCOHOLIC CARDIOMYOPATHY:
Individuals who consumes >90g/day of alcohol for many years
Clinical picture resembling idiopathic or familial DCM
Partially genetically predetermined (ALDH2)

Abstention may halt the progression or even reverse

PERIPARTUM CARDIOMYOPATHY :
Cardiac dilatation with CHF develope during last trimester or within
6 months of delivery.
Typically present in multiparous of age >30 yrs
Unknown cause
Inflammatory myocarditis, immune activation,gestational have
been incriminated
Symptoms,signs and management are that of IDCM
Further pregnancy should be discouraged
NEUROMUSCULAR DISEASES:
In duchennes progressive muscular dystrophy, there is
mutation in gene encoding cardiac structural
protein(dystrophin) lead to myocyte death.
ECG: tall R wave in right precordial leads with
R/S>1.0,associated with deep Q in limb and lateral
precordial leads
Rapidly progressive HF with extended periods of apparent

circulatory stability.
In myotonic dystrophy there is disorders of impulse

generation and AV conduction.

Evidence of overt heart disease is uncommon

Insertion of ICD or pacemaker is effective.

DCM
Drugs :
Adriamycin: systolic dysfunction and ventricular arrhythmia occur in
a dose dependant manner with a dose of >450mg/dl
Concomitant cyclphosphamide, irradiation,underlyig HF are the risk

factors for cardiotoxicity.

Toxicity may occur acutely but more commonly developes a median

of 3 months after last dose

Modification of dose along with the use of ironchelator dexrazoxone

have reduced the risk of cardiotoxicity.

ACE inhibitors may cause recovery of cardiac function

Other drugs include

Trustuzumab

High dose cyclophosphamide

Imatinib mesylate

TCA,Lithium , cocaine abuse

DCM
ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY/DYSPLASIA
Familial cardiomyopathy, autosomal dominant
Progressive fibrofatty tissue replacement of right ventricle and to a lesser
degreee of left ventricular myocardium
Mutation in genes encoding desmosomes,causes detachment in myocytes
and consequent apoptosis and replacement with fibrofatty tissue.
PKP2 gene mutation
Ryanodine recepter gene(RyR2) mutation
Patients present with right heart failure
ECG:-QRS prolongation in right precordial leads with LBBB type of VT
CTI,CMRI will show right ventricular dilatation and fibrofatty deposition and
aneurysm
Restriction from competetive sports, antiarrythmic therapy, with beta
blockers &amiodarone
Implantation OF ICD
Cardiac transplantation
DCM
TAKO-TSUBO CARDIOMYOPATHY:
Also known as apical ballooning syndrome
Patients presents with abrupt onset severe chest pain by a very stressfull
emotion &physical events
women>50 yrs
ECG:ST ,withT In precordial leads, EF, troponin
ECHO: akinesia of distal portion of left ventricle
CAG: Normal
CTI: Ballooning of left ventricle specifically apex in end systole
Reversible within 3-7 days
Beta blockers is of doubtful significance in Rx
LEFT VENTRICULAR NON COMPACTION(LVNC):
Arrest of normal embryogenesis with persistance of deep recesses
&sinusoides in the myocardiumthat characterise the embryonic heart.
ECHO- Multiple deep trabeculations into the myocardium which

communicate with the ventricular cavity causing left ventricular contractile

dysfunction
Rx- standard therapy for CHF along with chronic anticoagulation.
Hypertrophic cardiomyopathy
HCM

HCM is characterised by LV hypertrophy,typically

of a non-dilated chember, without any obvious
cause like HTN,AoS.
Two features of HCM have attracted most
significance
Asymetric hypertrophy of the left ventricle with the
preferential hypertrophy of the IVS
A dynamic left ventricular outflow tract pressure
gradiant,related to narrowing of the sub aortic area.
VARIANTS OF HCM
VARIANTS OF HCM
HCM
The major abnormality of the heart in
HCM is an excessive thickening of the
muscle. Thickening usually begins
during early adolescence and stops
when growth has finished. It is
uncommon for thickening to progress
after this age
The left ventricle is almost always
affected, and in some patients the
muscle of the right ventricle also
thickens
Hypertrophy is usually greatest in the
septum. The muscle thickening in this
region may be sufficient to narrow
the outflow tract. This thickening is
associated with obstruction to the
flow of blood out of the heart into the
aorta
HCM
Asymmetric septal
hypertrophy with obstruction
to the outflow of blood from
the heart may occur. The
mitral valve touches the
septum, blocking the outflow
tract. Some blood is leaking
back through the mitral valve
causing mitral regurgitation
HCM

Dynamic LV outflow tract obstruction

Outflow tract gradient (>30 mm Hg), considered severe if
>50 mm Hg (occurs in 25-30% of cases leading to name
hypertrophic obstructive cardiomyopathy)
Diastolic dysfunction
Impaired diastolic filling, filling pressure
Mitral regurgitation
Arrhythmias:SVT,AF,VT
HCM

Approximately 30% of patients with HCM have a

dynamic systolic pressure gradient in the left
ventricular outflow tract caused by contact between
the mitral valve leaflet(s) and the interventricular
septum under resting conditions
Outflow tract gradient in excess of 30 mmHg is an
important cause of symptoms
Gradient is simply a consequence of high velocity flow
through the aortic valve, and hence does not represent
a real obstruction to cardiac output .
HCM

Gradient greater than 50 mmHg, the percentage of

systolic volume ejected before the beginning of SAM is
greatly reduced - responsible for patients'
symptoms.When severe, outflow tract gradient can
cause dyspnea, chest pain, syncope, and predisposes
to the development of atrial arrhythmias - independent
predictor of disease progression and adverse outcome,
including sudden death
HCM

CLINICAL FEATURE :
Asymptomatic
Echocardiographic finding only

Symptomatic
Dyspnea in 90%
Angina pectoris in 75%
Fatigue, pre-syncope, syncope, risk of SCD
Palpitation, PND, CHF, dizziness
Atrial fibrillation, thromboembolism
HCM-Diagnostics
Abnormal in 85-90% of cases
LVH, Strain pattern
Abnormal ST-Ts, giant T wave inversions
Abnormal Qs,
Bundle Branch Block
Left atrial enlargment
Ventricular arrhthymias
HCM-Diagnostics

LVH usually develops between 5-15 years of age in

HCM
A normal ECHO in a young child does not R/O the
diagnosis
Serial ECHOs are recommended up to the age of 20 yr
where there is a family history of HCM
An unusual form od cardiomyopathy, characterised by
apical hypertrophy, is associated withgiant negative T
waves and a spade shaped LV cavity; usually of a
benign course.
HCM-Clinical course

Clinical presentation from infancy to old age

Variable clinical course 25 % of cohort achieve normal
longevity
Annual mortality 3% in referral centers probably closer to
1% for all patients
Course may be punctuated by adverse clinical events:
sudden cardiac death, embolic stroke, and consequences of
heart failure
Sustained V-Tach and V-Fib: most likely mechanism of
syncope/ sudden death
HCM Clinical course

Risk of SCD higher in children, may be as high as 6%

per year, majority have progressive hypertrophy
Accounts for 36% of deaths in athletes <35 years
Clinical deterioration usually is slow
Poor prognosis in males, young age of onset, family Hx
of SCD, Hx of syncope, exercise induced hypotension
(worst)
Progression to DCM occurs in 10-15%
HCM--Risk factors for SCD

Young age (<35 years)

Malignant family history of sudden death
Aborted sudden cardiac death
Sustained VT or SVT
Non-sustained VT on holter monitoring
Atrial fibrillation
Dilated left ventricle
NYHA classes III or IV
Syncope
Severe hypertrophy(>3.0 cm)
Abnormal BP response to exercise
Coronary artery disease
Strenous exercise or work
HCM-
RECOMMENDATION FOR ATHELETS

Low-risk older patients (>30 years) 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
Severe hemodynamic abnormalities, gradient 50 mmHg
Exercise induced hypotension
Moderate or severe mitral regurgitation
Enlarged left atrium (5.0 cm)
Paroxysmal atrial fibrillation
Abnormal myocardial perfusion
MANAGEMENT OF HCM
Dehydration should be avoided
Digitalis, diuretics,dihydropins, vasodilators should be
avoided

Drug therapy
Beta-adrenergic blockers
Calcium channel blockers (verapamil, diltiazem, etc)
disopyramide
Anti-arrhythmics Amiodarone;
Pacemakers (ICD)
Myomectomy (resection of septum)
Alcohol septal ablation (controlled MI through septal
perforator perfusing basal septum) wall
thinningdecreases in LVOTO
Transplantation
Hypertensive HCM of elderly

Characteristics
Modest concentric LV hypertrophy (<22 mm)
Small LV cavity size
Associated hypertension
Ventricular morphology greatly distorted with reduced
outflow tract
Sigmoid septum and grandma SAM echocardiographic
finding only
Inherited metabolic cardiomyopathies with LVH
Cardiac Danon Disease:
Mutation in x-linked LAMP2.
Enlarged ventricular myocytes with PAS positive
inclusions.
Presents in chilhhood with serious arrhythmias
ECG:LVH ventricular preexcitation

Friedrichs Ataxia:
Degenerative disease caused by inadequate levels of
frataxin,a protein involved in mitochondrial iron
metabolism.
Echo,CTI,CMRI shows symetric LVH with asymetric IVS
hypertrophy
Lacks cellualar disarray as of HCM
Glycogen storage disease:
Mutation in PRKAG2 adenosin monophosphate-activated protein
kinase.ventricular hypertrophy resembling HCM and enlarged
myocytes with vacoules in the myocytes that stain for glycogen

Fabry Disease:
X-linked autosomal recessive lysosomal disorder caused by
deficiency of lysosomal alpha galactosidase A, leading to
accumulation of glycosphingolipids in the heart leading to
ventricular hypertrophy.
Because of severe impairment in ventricular filling, it is
sometimes classified as a restrictive cardiomyopathy
Treatment consists of enzyme replacement therapy with
agalsidase Beta
Restrictve cardiomyopathy
RCM

Hallmark: abnormal diastolic function

Rigid ventricular wall with impaired ventricular filling
Bear some functional resemblance to constrictive
pericarditis
Importance lies in its differentiation from operable
constrictive pericarditis
Much less common then DCM or HCM outside the tropics,
but frequent cause of death in Africa, India, South and
Central America and Asia primarily because of the high
incidence of endomyocardial fibrosis in those regions
RCM Classification

Idiopathic
Myocardial
Noninfiltrative
Idopathic
Scleroderma
Infiltrative
Amyloid
Sarcoid
Gaucher disease
Hurler disease
Storage Disease Endomyocardial
Hemochromatosis Endomyocardial fibrosis
Fabry disease Hyperesinophilic synd
Glycogen storage
Carcinoid
Metastatic malignancies
Radiation, anthracycline
RCM
CLINICAL MENIFESTATION:
Symptoms of right and left heart failure
Jugular Venous Pulse elevated
kussmauls sign positive
Echo-Doppler
Abnormal mitral inflow pattern
Symetrically thickend LV walls and systolic dysfunction
Prominent E wave (rapid diastolic filling)
Reduced deceleration time ( LA pressure)
RCM
EXCLUSION GUIDELINES:
LV end-diastolic dimensions 7 cm
Myocardial wall thickness 1.7 cm
LV end-diastolic volume 150 mL/m2
LV ejection fraction < 20%
Restriction vs. Constriction
History provide can important
clues
Constrictive pericarditis
history of TB, trauma, pericarditis,
collagen vascular disorders
Restrictive cardiomyopathy
amyloidosis, hemochromatosis
Mixed
mediastinal radiation, cardiac
RCM
TREATMENT:
No satisfactory medical therapy
Drug therapy must be used with caution
Diuretics for extremely high filling pressures
Chronic anticoagulation is often recommended
Vasodilators may decrease filling pressure
(?) Calcium channel blockers to improve diastolic
compliance
Digitalis and other inotropic agents are not indicated
Eosinophilic endomyocardial disease:
Also called loefflers endocarditis
Cardiac damage is apparent result of toxic effect of

eosinophilic proteins
Endocardium of both ventricles enlarged

Imaging reveals ventricular thickening of the

postero basal LV wall.

Management is with diuretics,venodilators,

anticoagulants
Glucocorticoids, hydroxurea improves survival

Surgical resection of fibrotic tissue

Cardiac amyloidosis:
Deposition of amyloid in the myocardium
Uncommon in secondary form

Diastolic dysfunction, systolic dysfunction,

arrhythmias, orthostatic hypotension

2D ECHO: thickened myocardial wall with a

diffuse,hyperrefractile speckledappearance
Alkylating agent such as melphalan alng with

glucocorticods appears to improove survival

Heart transplantation along with bone marrow or

liver kidney transplantation may help in selected

patients
Other restricive cardiomyopathies

Iron-overload cardiomyopathy:
Should be suspected inbackground of diabetes cirrhosis and skin
pigmentation
Diagnosis confirmed by endomyocardial biopsy

Phlebotomy

Continuos subcutaneous use of iron chelators

Carcinoid syndrome
The carcinoid syndrome results in endocardial fibrosis ususally of right side.
Stenosis/regurgitation of pulmonary, tricuspid valve.

Similar lesions has been found in fenfluramine phenteramine use

Sarcoidosis:
Associated witA-V block
RV overload with pulmonary hypertension

High degree AV block with other systemic menifestation

Treated with empirical glucocortocoids

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