2. 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.
3. 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)
7. 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.
9. 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.
11. 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
12. 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.
13. 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
15. DCM
DIAGNOSTICS…
CXR (enlarged heart, CHF)
Electrocardiogram (tachycardia, A-V block, LBBB, NSSTT
changes, PVC’s)
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)
16. 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
17. Initiate standard treatment of HF
medical therapy
ACE inhibitors
diuretics
Digoxin
Hydralazine/nitrate combination
Anticoagulation prophylaxis(EF <30%, hx of embolic events)
18. 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
19. 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
20. NEUROMUSCULAR DISEASES:
In duchenne’s 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.
21. 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
22. 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
23. 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.
25. 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.
28. 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
29. 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
30. 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
31. 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 .
32. 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
33. 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
34. HCM-Diagnostics
Abnormal in 85-90% of cases
LVH, Strain pattern
Abnormal ST-T’s, giant T wave inversions
Abnormal Q’s,
Bundle Branch Block
Left atrial enlargment
Ventricular arrhthymias
35. 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.
36. 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
37. 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%
38. 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
39. 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
40. 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
41. 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
42. 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
• Friedrich’s 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
43. 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
45. 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
49. 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 surgery
50. 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
51. Eosinophilic endomyocardial disease:
Also called loeffler’s 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
52. 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 “speckled”appearance
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
53. 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
