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Cardiomyopathies

Cardiomyopathies. Oliver Rácz, 2011. Definition?. Idiopathic pathological processes ??? Primary = monogenic, mostly AD with low penetran c y and expressivity (in the past often nondiagnosed) Secondary – known causes CMs can be combined with other heart and circulatory conditions !.

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Cardiomyopathies

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  1. Cardiomyopathies Oliver Rácz, 2011 kvs04e.ppt

  2. Definition? • Idiopathic pathological processes ??? • Primary = monogenic, mostly AD with low penetrancy and expressivity (in the past often nondiagnosed) • Secondary – known causes • CMs can be combined with other heart and circulatory conditions! kvs04e.ppt

  3. Classification • Dilated • systolic dysfunction (DCM, COCM – dilated, congestive cardiomyopathy) • Hypertrofic • diastolic dysfunctionwith or without outflow obstruction(HNCM a HOCM - hypertrophic nonobstructive/obstructive cariodiomyopathy) • Restrictive • Impaired elasticity of the ventricular walls, diastolic and systolic dysfunction. RCM - restrictive cardiomyopathy kvs04e.ppt

  4. Secondary CMsSpecific diseases of the myocard - 1 • Toxic • Cobalt salts added to the beer (and other) • Anticancer drugs • Alcoholic CM (?) • Nutritional deficiencies • m. Keshan – Se deficiency • B group vitamin deficiency(beri-beri) kvs04e.ppt

  5. Secondary CMsSpecific diseases of the myocard - 2 • Metabolic • Diabetes mellitus • Kidney failure - uremia • Neuromuscular diseases ? • Muscular atrophies, Friedreich etc. ??? Hereditary conditions! • Infiltration with cells, abnormal substances • Leukemia, glycogenoses, lipid storage diseases • Infections ? Diphteria, viroses • Inflammation or alteration? kvs04e.ppt

  6. Secondary CMsSpecific diseases of the myocard - 3 • Electrolyte disturbances? • Potassium, magnesium ? • Endocrine diseases • hyperthyreosis, hypothyreosis, suprarenal d. • Connective tissue pathologies • lupus erytematodes and many others • Heart damage in immune disturbances kvs04e.ppt

  7. Dilated, congestive – bad prognosis • Hereditary, see later • Common in alcoholics • Dilated ventricles • Systolic dysfunction of the left ventricle – low EF, congesctionin the pulmonary circulation • Later diastolic dysfunction of the left and failure of the right ventricle • Valvular regurgitation • Arrythmias • Clot formation in the ventricles, danger of embolisation – systemic and pulmonary kvs04e.ppt

  8. HYPERTROPHIC (HNCM, HOCM) – mostly good prognosis • Abnormal histology of the myofibrills • Hypertrophyis compensatory • Contractility is good, EF is normal or even increased • Diastolic dysfunctionof the left ventricle – slow relaxation after systole • Arrythmias • The muscular hypertrophyoften affects the interventricular septum and causes outflow obstruction = subvalvular aortic stenosis kvs04e.ppt

  9. RESTRICTIVE CMs – rare in Europe • The ventricular wall is rigid • Severe diastolic dysfunction, tachycardia, dyspnoe. Often also right ventricle failure • Valvular dysfunction • Known etiology • Cardiac muscle infiltration with anormal sbstances - amyloidosis, hemocromatosis, glycogenoses... • Genetic ? • Endomyocardial fibrosis – tropical disease • Fibroelastosisof the myocardium – rare children disease of unknown etiology kvs04e.ppt

  10. HEREDITARY CONDITIONS AND CMs • HYPERTROFIC • CMH1- genefor he heavy chain ofb-myosin (ch. 14) • Genefor troponin T (ch. 1q3) • Genefora-tropomyozín (ch. 15q2) • DILATED • Genefor dystrophin • Gen for lamin A ??? See later • Genefor actin • BUT ALSO – Duchenne, mitochondrial diseases, and „arytmogenic dysplasia of the left ventricle“ kvs04e.ppt

  11. NEW KNOWLEDGE MUTATIONS IN DCM 1A Arg60Gly Leu85Arg Glu161Lys Asn195Lys Glu203Gly Arg571Ser Ser573Leu 1-bp del 959T 1-bp ins 28A • Prevalence  40/100 000 (SR  2000!) • Screening is recommended (children, relatives) • OMIM – 37 data about DCM, more about HCM • Sometimes withou any logical connection to the heart– lamin gene mutations kvs04e.ppt

  12. LAMIN? Lamins (A,B,C) areparts of the inner layer of the nuclear membrane – responsible to proper form of the nucleus Lamins A and C arecodedon gene LMNA, locus 1q21.2 – 21.3, 24 exons The difference between the proteins is the result ofalternative RNA processing (A: 74 kD – 664 aminoacids, C: 65 kD and 98 aminoacids less) kvs04e.ppt

  13. LAMIN??? – crazy! Different expression in the tissues, different interactions with other genes…, different diseases • Dilated CMs with conduction abnormalities • Lipodystrophy • Neuropathy • Progeric conditions! (Werner) • Restrictive dermopathy • ??? Obesity is some ethnic groups ??? 1908 C/T kvs04e.ppt

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