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CARDIOMYOPATHY
DR ZAHOOR
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CARDIOMYOPATHY
What is Cardiomyopathy ?
• Cardiomyopathy is disease of myocardium
that affects the Mechanical and Electrical
function of the heart.
• Cardiomyopathies are frequently Genetic
(primary) or Secondary.
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CARDIOMYOPATHY
• In cardiomyopathies there is myocardial
dysfunction which may be Systolic or Diastolic
heart failure
• Abnormal electrical conduction results in
cardiac arrhythmias and sudden death.
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CARDIOMYOPATHY
CARDIOMYOPATHY may be
• Primary
• Secondary
Primary Cardiomyopathy
– Hypertrophic cardiomyopathy
– Dilated cardiomyopathy
– Restrictive cardiomyopathy
– Arrhythmogenic Right ventricular cardiomyopathy
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CARDIOMYOPATHY
SECONDARY CARDIOMYOPATHIES
– Infiltrative eg Amylodosis
– Storage eg Hereditary haemochromatosis
– Toxicity eg Alcohal , cocaine, heavy metal eg
cobalt.
– Sarcoidosis
– Endocrine eg Diabetes mellitus , Hyper or
Hypothyroidism , Acromegly,
Hyperparathyroidism, pheochromocytoma
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CARDIOMYOPATHY
Secondary cardiomyopathies causes ( Cont )
– Neurological eg. Friedreich’s ataxia, Duchenne
muscular dystrophy , Neurofibromatosis.
– Nutritional eg. Beriberi (thiamine), pellagra,
scurvy
– Cancer therapy eg Cyclophosphamide,
Anthracycline, Doxorubicin, Radiation
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SPECIFIC DISEASES OF HEART MUSCLE
Infections
Viral, e.g. Coxsackie A and B, influenza, HIV
Bacterial, e.g. diphtheria, Borrelia burgdorferi
Protozoal, e.g. trypanosomiasis
Endocrine and metabolic disorders
e.g. Diabetes, hypo- and hyperthyroidism, acromegaly, carcinoid syndrome,
phaeochromocytoma, inherited storage diseases
Connective tissue diseases
e.g. Systemic sclerosis, systemic lupus erythematosus (SLE), polyarteritis nodosa
Infiltrative disorders
e.g. Haemochromatosis, haemosiderosis, sarcoidosis, amyloidosis
Toxin
e.g. Doxorubicin, alcohol, cocaine, irradiation
Neuromuscular disorders
e.g. Dystrophia
myotonica, Friedreich's ataxia
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CARDIOMYOPATHY
Functional classification of Cardiomyopathy
1. Hypertrophic cardiomyopathy ( HCM )
2. Dilated cardiomyopathy (DCM )
3. Restrictive cardiomyopathy ( non- hypertrophic )
4. Arrhythmogenic right ventricular cardiomyopathy
5. Obliterative cardiomyopathy
WE WILL DISCUSS EACH ONE
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HYPERTROPHIC CARDIOMYOPATHY
HCM
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HYPERTROPHIC CARDIOMYOPATHY
HCM
• Hypertrophic cardiomyopathy is most
common cause of sudden death in young
people.
• It affects 1 : 500 of the population
• Majority of cases are familial Autosomal
Dominant
• There is mutation of genes encoding
sarcomeric proteins ( myosin , actin, troponin,
tropomyosin )
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HCM
Clinical features- HCM
• There is asymmetrical hypertrophy of
Interventricular septum ( ASH )
• There is systolic anterior motion (SAM) of
anterior mitral valve leaflet
• There is left ventricle outflow obstruction due
to ASH and SAM IN 25% of patients
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HCM
•
•
•
•
•
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HCM – Symptoms
Patient may be asymptomatic
Chest pain , dyspnea , syncope with exertion
Atrial fibrillation
Pulmonary edema
Cardiac arrhythmias and sudden death
HCM
HCM – Signs
– Double apical pulsation ( duo to forceful atrial
contraction )
– Jerky carotid pulse
– Ejection systolic murmur
– Mitral regurgitation secondary to SAM
– Fourth heart sound
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HCM
Investigations
• ECG - Left ventricular hypertrophy
• Echocardiography – shows asymmetric Left
ventricular hypertrophy involving septum
(ASH) and SAM
• Cardiac MRI
• Genetic analysis
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HCM
Treatment of HCM
• Treatment of symptoms
• Prevention of sudden death
Drugs used
– Beta blockers and Verapamil for chest pain and
dyspnea
– Amiodarone for arrhythmia
– Implantable cardioverter- defibrillator (ICD)
– Occasionally surgical resection of septal
myocardium may be indicated
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HCM
Risk factors for sudden death in HCM
– Massive left ventricular hypertrophy more than
30mm on Echo
– Family history of sudden death
– Non- sustained ventricular tachycardia on 24hrs
holter monitoring
– Abnormal blood pressure response on exercise (
hypotensive response )
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HCM
• IMPORTANT
• Vasodilators are avoided as they may
aggravate left ventricular out flow obstruction
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DILATED CARDOMYOPATHY
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DILATED CARDIOMYOPATHY (DCM)
• DCM has prevalence of 1: 2500
• Autosomal dominant
• Characterized by dilatation of ventricular
chambers and systolic dysfunction , with
preserved wall thickness
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DILATED CARDIOMYOPATHY (DCM)
Dilated cardiomyopathy can be caused by
multiple conditions
– Myocarditis – Coxsackie, Adenovirus, HIV, Bacteria ,
Fungi.
– Toxins – Alcohol, Chemotherapy, Metals (lead,
mercury, cobalt )
– Autoimmune
– Endocrine
– Neuromuscular
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DILATED CARDIOMYOPATHY (DCM)
Clinical features
DCM may present with
– Heart failure
– Cardiac arrhythmia
– Conduction defects
– Thromboembolism
– Sudden death ( Family history should be obtained)
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DILATED CARDIOMYOPATHY ( DCM )
Investigations DCM
– X-ray chest shows generalized cardiac
enlargement
– ECG – may show diffuse nonspecific ST segment
and T wave changes, sinus tachycardia,
conduction abnormalities, arrhythmias eg AF, VT
– Echocardiogram – shows dilatation of LV and / or
RV with poor global function.
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DILATED CARDIOMYOPATHY (DCM )
Investigations ( cont )
– Cardiac MRI
– Coronary angiography – should be done in all
cases to exclude coronary artery disease.
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DILATED CARDIOMYOPATHY (DCM )
Treatment DCM
– Treatment of cardiac failure
– ICD – Implantable Cardioverter defibrillator
– Cardiac transplant for certain patients
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PRIMARY RESTRICTIVE CARDIOMYOPATHY
( NON- HYPERTROPHIC )
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PRIMARY RESTRICTIVE HYPERTROPHY
Features of PRIMARY Restrictive Hypertrophy
– It is rare condition in which there is normal or
decreased volume of both ventricles with bilateral
atrial enlargement .
– Wall thickness, cardiac valves are normal.
– There is impaired ventricular filling but near
systolic function.
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PRIMARY RESTRICTIVE HYPERTROPHY
Feature ( cont )
– Restrictive physiology produces symptoms and
signs of heart failure
– Conditions associated with Restrictive
cardiomyopathy include Amyloidosis, sarcoidosis.
– It may be familial
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PRIMARY RESTRICTIVE HYPERTROPHY
Clinical Presentation
– Patient may present with Dyspnea, fatigue ,
embolic symptoms.
Clinical Examination
– Increased JVP , Hepatic enlargement , Ascites,
Dependent oedema .
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PRIMARY RESTRICTIVE HYPERTROPHY
Investigations
• Chest X-Ray – may show cardiomegaly ,
pulmonary venous congestion.
• ECG – Low voltage QRS, ST and T wave
changes
• Echocardiography – Symmetrical myocardial
thickening, impaired ventricular filling.
• Cardiac MR – may show myocardial fibrosis in
amyloidosis.
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PRIMARY RESTRICTIVE
CARDIOMYOPATHY
Investigations ( CONT )
• Cardiac cathetrazation
• Endomyocardial biopsy
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RESTRICTIVE CARDIOMYOPATHY
Treatment
• There is no specific treatment.
• Treatment of cardiac failure and embolic
manifestations
• Cardiac transplant in some cases
• In primary amyloidosis – treatment with
Melphalan, prednisolone, colchicine may
improve survival
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ARRHYTHMOGENIC ( RIGHT )
VENTRICULAR CARDIOMYOPATHY (AVC )
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ARRHYTHMOGENIC ( RIGHT )
VENTRICULAR CARDIOMYOPATHY (AVC)
•
•
•
•
It is AD
AVC is uncommon 1: 5000 population.
Predominantly affects Right ventricle
There is fatty or fibro fatty replacement of
myocytes leading to Dilatation .
• It causes ventricular arrhythmia and risk of
sudden death
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ARRHYTHMOGENIC ( RIGHT)
VENTRICULAR CARDIOMYOPATHY (AVC)
Clinical features of AVC
• Most patients are asymptomatic
• Ventricular arrhythmias, syncope and sudden
death occur
• Presentation with signs and symptoms of
RIGHT HEART FAILURE can occur
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AVC
Investigations
• ECG – Usually normal but may show T- wave
inversion in right ventricular leads V1 ,V2 or RBBB
• 24 Hours Holter may show extra systole, nonsustained VT
• Echocardiography – in advanced cases show RV
dilatation and aneurysm formation.
• Cardiac MRI – may show fibrofatty infiltration
• Genetic testing
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AVC
Treatment of AVC
• Beta blockers for non- life threatening
arrhythmias
• Amiodarone for symptomatic arrhythmias
• ICD (Implantable cardioverter defibrillator )
for life threatening arrhythmias
• Occasionally cardiac transplant is indicated for
intractable arrhythmia or cardiac failure.
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OBLITRATIVE CARDIOMYOPATHY
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OBLITRATIVE CARDIOMYOPATHY
• It involves endocardium of one or both
ventricles and characterized by thrombosis
and fibrosis with obliteration of ventricular
cavities
• Mitral and Tricuspid valve regurgitation occurs
• Heart failure, pulmonary and systemic
embolism are prominent features
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OBLITRATIVE CARDIOMYOPATHY
ASSOCIATION
It has association with
– Eosinophilic Leukemia
– Chrug- Strauss syndrome
TREATMENT
– Anticoagulation and antiplatelet are advised
– Treatment of heart failure
– Surgery – Tricuspid and Mitral valve replacement
plus Decortication of endocardium in some cases
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Case History Obstructive Hypertrophic
Cardiomyopathy (HCM )
• A 52- year old female presented with a 10 year
history of HCM , increasing dyspnea and chest
discomfort on exertion, palpitation, postural light
headedness and functional limitation of less than
one flight of stairs.
• Symptoms were initially treated with Beta
blockers which were not tolerated due to
symptomatic hypotension . She was taking
Verapamil 240mg/day.
• No family history of HCM or sudden death
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Case History HCM (cont )
Clinical examination
– pulse 84/ min, BP 135/65 mm Hg
– Prominent left ventricle apical impulse displaced to
the anterior axillary line in 5th I/c space.
– S3 present, grade 3/6 systolic murmur heard at mitral
area.
INVESTIGATION
– Echo – shows systolic anterior motion of the mitral
valve (SAM ), mitral regurgitation,Interventricl
septum of 19 mm ( normal 6-11 mm), left
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atrium dimension 48 mm ( normal less than 40 mm )
Case History HCM ( cont )
Therapeutic options discussed with patient
– Cardiac surgery
– Dual chamber (DDD )PACE MAKER THERAPY
– Alcohol septal ablation (ASA)
– Patient choose ASA, patient was discharged from
hospital after 03 days. Patient reports her
symptoms and exercise tolerance are markedly
improved 3 months after ASA. She can walk long
distance and climb three flights of stairs
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Case Study Dilated Cardiomyopathy
Clinical overview
A 32 year old female presented to clinic with
palpitation. ECG and holter moniter showed
frequent PVCS of multiple morphologies and her
ECHO showed normal LVEF . In 6 months PVC
worsened and she developed AF and biventricular
dilatation. Due to unclear etiology of her
cardiomyopathy, genetic testing was done for DCM.
Mutation was found in LMNA which is associated
with DCM with conduction defects.
Note- LMNA is Gene in DNA
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DCM CASE STUDY
Family history
• Family history was significant for her father who died at age
of 52 years from heart failure.
Diagnostic Implications
• Although DCM can be inherited, ventricular dilatation can
also be acquired due IHD, valvular heart disease, alcohal,
pregnancy.
• The patient was considered for ICD ( Implantable
cardioverter defibrillator ) for control of her arrhythmias
• Her two asymptomatic brothers could be tested for
mutation to predict their risk of developing DCM/
ARRHYTHMIAS .
.
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THANK YOU
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