1. Cardiomyopathies
Pavol Tomašov

2. European Society of Cardiology (ESC):
Definition
European Society of Cardiology (ESC):
Diseases with abnormal myocardial structure or function in the absence of ischemic insult or loading conditions capable of causing such disorder (CAD, hypertension, valvular disease, congenital heart disease).

3. Classification Cardiomyopathies HCM DCM ARVC RCM Unclassified
Familial/Genetic
Non-familial/Non.genetic
Unidentified gene defect
Disease sub-type
Idiopathic

4. Restrictive cardiomyopathy
Left ventricular non-compaction
Normal heart
DCM
ARVC
Restrictive cardiomyopathy
HCM

5. ACC/AHA classification

6. Pathophysiology Mutation Exogenous insult
Contraction and relaxation disorder
Ineffective energy utilization
Altered Ca ions handling
Activation of compensatory neurohumoral mechanisms
Apoptosis
Fibrosis
Hypertrophy
Heart failure
Arrhythmia, sudden death
Thromboembolic complication

7. Therapy Exogenous insult prevention Sudden death prevention Primary
Secondary
Heart failure therapy
Symptomatic
Life prolonging
Prevention of thromboembolic complications

8. Genetics Some cardiomyopathies are monogenic disorders
Primary genetic – HCM, ARVC, LVNC
Mixed etiology – DCM (20-40 %), RCM (rare)
Great variability of genotype and phenotype
Hundreds and thousands of mutations
Many genes
Various types of inheritence
Different phenotypes in identical mutations

9. Hypertrophic cardiomyopathy
Increased left ventricular thickness and/or mass in the absence of loading conditions capable of causing such extent of hypertrophy (hypertension, valvular disease, congenital heart disease).

10. Hypertrophic cardiomyopathy
Most common monogenic disorder of the heart with a prevalance of 1:500
Mutations in sarcomeric genes (20 genes, 2000 mutations)
β myosin heavy chain
Myosin binding protein C
Metabolic disorders (Fabry disease)

11. Pathology

18. Ventricular obstruction
Pressure gradient due to intracavitary obstruction during systole
Left ventricular outflow tract – anterior mitral leaflet and hypertrophic interventricular septum.
Midventricular – papillary muscles
Right ventricular obstruction

19. Symptoms Majority of patients are asymptomatic Dyspnoe Chest pain
Palpitation
Syncope
Symptoms of stroke
Sudden death

20. Work up ECG ECHO MRI Stress test Ambulatory ECG monitoring
Selective coronary angiography

21. Therapy Sudden death prevention Based on the presence of risk factors
Heart failure therapy
Septal reduction therapy (for ventricular obstruction)
Prevention of thromboembolic complications of atrial fibrillation

22. Drug therapy Obstruction Betablockers Verapamil Heart failure
Diuretics
ACE inhibitors, sartans (systolic dysfunction)
Aldosterone receptors blockers (systolic dysfunction)

23. Septal reduction therapy
Surgical myectomy
Alcohol septal ablation

27. Dilated cardiomyopathy
Dilated left ventricle with systolic dysfunction in the absence of coronary ischemia or loading conditions capable of causing such dysfunction (CAD, hypertension, valvular disease, congenital heart disease).

28. Dilated cardiomyopathy
Prevalence app. 1:2500
Mixed etiology
Familial DCM – sarcomeric, cytoskeletal , nuclear membrane genes
Toxic
Inflammatory
Peripartal

29. Pathology

32. Outcomes
Heart failure
Arrhytmias
Sudden death

33. Work up ECG ECHO Selective coronary angiography MRI
Endomyocardial biopsy

38. Therapy Sudden death prevention
Based on symptoms and severe systolic dysfunction
Heart failure therapy
Drug therapy
Mechanical assist devices
Heart transplant
Prevention of thromboembolic complications of atrial fibrillation

39. Arrhytmogenic cardiomyopathy
Prevalence app. 1:2000 – 1:5000
Primary genetic disease
Desmosomal protein genes
Replacement of myocardium by adipose and fibrous tissue

40. Outcomes
Heart failure (of both ventricles)
Arrhytmias
Sudden death

41. Work up
ECG
MRI
ECHO
Endomyocardial biopsy

44. Therapy Sudden death prevention Heart failure therapy
Treatment of ventricular tachycardias

45. Left ventricular non-compaction
Rare
Primary genetic disease
Sarcomeric and mitochondrial genes
Non-compacted myocardium, especially in the apical part of the left ventricle

47. Restrictive cardiomyopathy
Rare
Mixed etiology
Sarcomeric genes
Restrictive physiology of diastolic filling
Non-dilated ventricles, dilated atria

48. Cardiac amyloidosis

49. Work-up
ECG
MRI
ECHO
Laboratory diagnosis of amyloid protein – free light chains, paraprotein
Endomyocardial biopsy
Scintigraphy – tnasthyretin amyloidosis

54. Therapy Heart failure therapy (including heart transplant)
Liver transplant
Hematology
Specific therapy against amyloid protein

55. Case report Woman, 75 years
Comes to ED for new-onset chest pain and weakness
History: hyperthyreosis
Drugs: Thyrozol
Family history: no cardiovascular diseases
Physical: BP 105/70, HR 92/min, RR 20 breaths/min, sat O2 94%

57. ECHO – anterior wall akinesis, LV EF 35%, mild mitral regurgitation, no dilation of right-sided chambers, no pericardial effusion

61. Tako-tsubo