1. CARDIOMYOPATHY
DR ZAHOOR

2. 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.

3. 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.

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

5. 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

6. 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

7. 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

8. 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

9. HYPERTROPHIC CARDIOMYOPATHY HCM

10. 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 )

11. 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

12. HCM HCM – Symptoms Patient may be asymptomatic
Chest pain , dyspnea , syncope with exertion
Atrial fibrillation
Pulmonary edema
Cardiac arrhythmias and sudden death

13. 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

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

15. 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

16. 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 )

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

18. DILATED CARDOMYOPATHY

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

20. 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

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

22. 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.

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

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

25. PRIMARY RESTRICTIVE CARDIOMYOPATHY ( NON- HYPERTROPHIC )

26. 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)

27. 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

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

29. 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.

30. PRIMARY RESTRICTIVE CARDIOMYOPATHY
Investigations ( CONT )
Cardiac cathetrazation
Endomyocardial biopsy

31. 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

32. ARRHYTHMOGENIC ( RIGHT ) VENTRICULAR CARDIOMYOPATHY (AVC )

33. 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

34. 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

35. 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

36. 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.

37. OBLITRATIVE CARDIOMYOPATHY

38. 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

39. 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

40. 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

41. 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 )

42. 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

43. 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

44. 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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