CARDIOMYOPATHY DR ZAHOOR

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.

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.

CARDIOMYOPATHY CARDIOMYOPATHY may be Primary Cardiomyopathy Primary Secondary Primary Cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy Restrictive cardiomyopathy Arrhythmogenic Right ventricular cardiomyopathy Obliterative Cardiomyopathy

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

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

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

CARDIOMYOPATHY Functional classification of Cardiomyopathy Hypertrophic cardiomyopathy ( HCM ) Dilated cardiomyopathy (DCM ) Restrictive cardiomyopathy ( non- hypertrophic ) Arrhythmogenic right ventricular cardiomyopathy Obliterative cardiomyopathy WE WILL DISCUSS EACH ONE

HYPERTROPHIC CARDIOMYOPATHY HCM

HYPERTROPHIC CARDIOMYOPATHY HCM Hypertrophic cardiomyopathy is most common cause of sudden death in young people ( young athlete ) 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 )

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

HCM 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

HCM Investigations ECG - Left ventricular hypertrophy Echocardiography – shows asymmetric Left ventricular hypertrophy involving septum (ASH) and SAM Cardiac MR Genetic analysis

HCM Treatment of HCM Treatment of symptoms Prevention of sudden death Drugs used Beta blockers and Verapamil for chest pain Amiodarone for arrhythmia Implantable cardioverter- defibrillator (ICD) Occasionally surgical resection of septal myocardium may be indicated

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 )

HCM IMPORTANT Vasodilators are avoided in HCM as they may aggravate left ventricular out flow obstruction

DILATED CARDOMYOPATHY

DILATED CARDIOMYOPATHY (DCM) DCM has prevalence of 1: 2500 Autosomal dominant Characterized by dilatation of ventricular chambers and systolic dysfunction .

DILATED CARDIOMYOPATHY (DCM) Dilated cardiomyopathy can be caused by multiple conditions Myocarditis – Coxsackie, Adenovirus, HIV, Bacteria , Fungi. Toxins – Alcohol, Chemotherapy, Metals (lead, mercury, cobalt ) Coronary artery disease Autoimmune Endocrine Neuromuscular

DILATED CARDIOMYOPATHY (DCM) Clinical features DCM may present with Heart failure Cardiac arrhythmia Conduction defects Thromboembolism Sudden death ( Family history should be obtained)

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.

DILATED CARDIOMYOPATHY (DCM ) Investigations ( cont ) Cardiac MRI Coronary angiography – should be done in all cases to exclude coronary artery disease.

DILATED CARDIOMYOPATHY (DCM ) Treatment DCM Treatment of cardiac failure ICD – Implantable Cardioverter defibrillator Cardiac transplant for certain patients

PRIMARY RESTRICTIVE CARDIOMYOPATHY ( NON- HYPERTROPHIC )

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 . Ventricle wall are stiff and rigid, cardiac valves are normal There is impaired ventricular filling as heart is not able to relax ( Diastolic dysfunction)

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

PRIMARY RESTRICTIVE HYPERTROPHY Clinical Presentation Patient may present with Dyspnea, fatigue , embolic symptoms. Clinical Examination Increased JVP , Hepatic enlargement , Ascites, Dependent oedema .

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.

PRIMARY RESTRICTIVE CARDIOMYOPATHY Investigations ( CONT ) Cardiac cathetrazation Endomyocardial biopsy

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

ARRHYTHMOGENIC ( RIGHT ) VENTRICULAR CARDIOMYOPATHY (AVC )

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

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

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, non- sustained VT Echocardiography – in advanced cases show RV dilatation and aneurysm formation. Cardiac MR – may show fibrofatty infiltration Genetic testing

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.

OBLITRATIVE CARDIOMYOPATHY

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

OBLITRATIVE CARDIOMYOPATHY ASSOCIATION It has association with Eosinophilic Leukemia Chrug- Strauss syndrome TREATMENT Anticoagulation and antiplatelet are advised Treat heart failure Surgery – Tricuspid and Mitral valve replacement plus Decortication of endocardium in some cases

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

Case History HCM (cont ) Clinical examination pulse 84/ min, BP 135/65 mm Hg Prominent left ventricle apical impulse displaced to the ant 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, septum of 19 mm ( normal 6-11 mm), left 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, which was performed.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

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

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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