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Cardiomyopathies Pavol Tomašov 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). Classification Cardiomyopathies HCM DCM Familial/Genetic Unidentified gene defect ARVC RCM Unclassified Non-familial/Non.genetic Disease sub-type Idiopathic Disease sub-type Left ventricular non-compaction Normal heart DCM ARVC Restrictive cardiomyopathy HCM ACC/AHA classification 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 Therapy Exogenous insult prevention Sudden death prevention Primary Secondary Heart failure therapy Symptomatic Life prolonging Prevention of thromboembolic complications 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 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). 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) Pathology 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 Změna morfologie a lokalizace papilárních svalů Symptoms Majority of patients are asymptomatic Dyspnoe Chest pain Palpitation Syncope Symptoms of stroke Sudden death Work up ECG ECHO MRI Stress test Ambulatory ECG monitoring Selective coronary angiography 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 Drug therapy Obstruction Betablockers Verapamil Heart failure Betablockers Diuretics ACE inhibitors, sartans (systolic dysfunction) Aldosterone receptors blockers (systolic dysfunction) Septal reduction therapy Surgical myectomy Alcohol septal ablation 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). Dilated cardiomyopathy Prevalence app. 1:2500 Mixed etiology Familial DCM – sarcomeric, cytoskeletal , nuclear membrane genes Toxic Inflammatory Peripartal Pathology Outcomes Heart failure Arrhytmias Sudden death Work up ECG ECHO Selective coronary angiography MRI Endomyocardial biopsy 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 Arrhytmogenic cardiomyopathy Prevalence app. 1:2000 – 1:5000 Primary genetic disease Desmosomal protein genes Replacement of myocardium by adipose and fibrous tissue Outcomes Heart failure (of both ventricles) Arrhytmias Sudden death Work up ECG MRI ECHO Endomyocardial biopsy Therapy Sudden death prevention Heart failure therapy Treatment of ventricular tachycardias Left ventricular non-compaction Rare Primary genetic disease Sarcomeric and mitochondrial genes Non-compacted myocardium, especially in the apical part of the left ventricle Restrictive cardiomyopathy Rare Mixed etiology Sarcomeric genes Restrictive physiology of diastolic filling Non-dilated ventricles, dilated atria Cardiac amyloidosis Work-up ECG MRI ECHO Laboratory diagnosis of amyloid protein – free light chains, paraprotein Endomyocardial biopsy Scintigraphy – tnasthyretin amyloidosis Therapy Heart failure therapy (including heart transplant) Liver transplant Hematology Specific therapy against amyloid protein 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% ECHO – anterior wall akinesis, LV EF 35%, mild mitral regurgitation, no dilation of right-sided chambers, no pericardial effusion Tako-tsubo
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