1. -CARDIOMYOPATHIES-
CLASSIFICATION,ETIOLOGY,TREATMENT
BY
PIJUSH KANTI MANDAL
PGT; GENERAL MEDICINE
BURDWAN MEDICAL COLLEGE; BURDWAN

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)

4. 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)

5. 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,fabry’s 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

6. CARDIOMYOPATHY
CLASSFICATION (CONTD..)
 Neuromuscular: muscular dystrophy, myotonic
dystrophy,friedrich’s ataxia(H,D)
 Sensitivity & toxic reaction(D): alcohol,drugs,radiation
 Peripartum heart disease

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.

8. Dilated cardiomyopathy

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.

10. DCM

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

14. DCM
CLIN. MENF----
 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 PVC’s, sudden death

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.

24. Hypertrophic cardiomyopathy

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.

26. VARIANTS OF HCM

27. VARIANTS OF HCM

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 thinningdecreases 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

44. Restrictve cardiomyopathy

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

46. RCM Classification
 Idiopathic
 Myocardial
 Endomyocardial
 Noninfiltrative
 Idopathic  Endomyocardial fibrosis
 Scleroderma  Hyperesinophilic synd
 Infiltrative  Carcinoid
 Amyloid
 Sarcoid  Metastatic malignancies
 Gaucher disease  Radiation, anthracycline
 Hurler disease
 Storage Disease
 Hemochromatosis
 Fabry disease
 Glycogen storage

47. RCM
CLINICAL MENIFESTATION:
• Symptoms of right and left heart failure
• Jugular Venous Pulse elevated
• kussmaul’s 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)

48. RCM
EXXCLUSION GUIDELINES:
 LV end-diastolic dimensions 7 cm
 Myocardial wall thickness 1.7 cm
 LV end-diastolic volume 150 mL/m2
 LV ejection fraction < 20%

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

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