kardiologická klinika lekárskej fakulty univerzity

Kardiologická klinika

Lekárskej fakulty

Univerzity Komenského a NÚSCH v Bratislave

Vypracoval:

Goncalvesová

Cardiomyopathies

Kardiomyopatie

Kardiomyopatia (KMP) je definovaná ako choroba srdca, pri

ktorej je prítomná štrukturálna a funkčná abnormalita srdca a

súčasne nie sú prítomné koronárna choroba,

artériová hypertenzia, dysfunkcia chlopní, ani vrodená chyba

srdca dostatočné na to, aby abnormálny nález vysvetlili .

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).

Kardiologická klinika Lekárskej fakulty Univerzity Komenského a NÚSCH v Bratislave

Left ventricular non-compaction

Restrictive cardiomyopathy

Normal heart

DCM

HCM

ARVC


Summary of proposed classification system.

Elliott P et al. Eur Heart J 2008;29:270-276

© The European Society of Cardiology 2007. All rights reserved. For Permissions, please e-mail:

[email protected] Kardiologická klinika Lekárskej fakulty Univerzity Komenského a NÚSCH v Bratislave

Pathogenesis

Mutation Exogenous insult

Altered function of sarcomere /cytosceletom

Ineffective energy utilization Altered Ca ions handling

• Activation of compensatory neurohumoral mechanisms

• Apoptosis • Fibrosis • Hypertrophy

Heart failure Arrhythmia, sudden death Thromboembolic complication


Genetics

Some cardiomyopathies are monogenic disorders Primary genetic – HCM, ARVC, LVNC Mixed etiology – DCM (20-40 %), RCM (rare)

Great variability of genotype and phenotype Thousands of mutations Many genes Various types of inheritence Different phenotypes in identical mutations

Dilated CM (DCM)

Dilated cardiomyopathy Dilatation and impaired contraction of the LV and/or RV, congestive HF, arrhythmias, emboli

Hypertrophic cardiomyopathy

LV and/or RV hypertrophy, often asymmetrical, which usually involves the interventricular septum


Endomyocardial scarring or myocardial infiltration resulting in restriction to LV and/or RV filling with normal or near-normal systolic function

Arrhythmogenic RV cardiomyopathy

Progressive fibro-fatty replacement of the RV (inherited AD)


DCM

LV (LA, RA, RA) dilation

diffuse kinetic disorders of LV, RV walls

systolic function

thrombus formation in hypokinetic areas of the heart embolization

rhythm disorders: ventricular tachycardia, ventricular fibrillation

heart failure


DCM


DCM - etiology Idiopathic: 25% of all heart failure cases

Genetic: 20-30%

Inflammatory: infectious and noninfectious

• late consequence of acute viral myocarditis, sarcoidosis

Toxic:

• alcohol: direct toxic effect of alcohol/metabolites, nutritional (thiamine), alcohol additives (cobalt)

• cocaine, anthracyclines, beri beri

Metabolic:

• Fe (hemochromatosis), amyloidosis, Neuromuscular:

• Duchene's progressive muscular dystrophy, myotonic dystrophy

reversible forms:

• alcohol abuse

• pregnancy

• thyroid disease

• cocaine use

• chronic uncontrolled tachycardia

• Beri beri


DCM - symptoms Asymptomatic / vague chest pain Signs of heart failure:

• cold extremities • tachycardia • fatigue • orthostatic positional vertigo • exertional, resting, nocturnal dyspnea • pulmonary edema • increased filling of jugular veins • edemas • ascites • hepatomegaly

Activated RAAS: • peripheral resistance, blood volume overload worsen

myocardial dilation • MiV and TriV insuficciency

S3, S4


DCM - diagnosis

ECG:

• LV hypertrophy, RBBB/LBBB, 1. AV block, arrhythmias

CXR:

• cardiac enlargement, interstitial pulmonary edema

ECHO:

• chamber enlargement, low EF with akinesia

CATHETHER:

• elevation of LVED pressure, reduced CO

Cardiac MRI or CT

Endomyocardial biopsy on rare occasions


DCM - diagnosis


DCM - treatment Alleviate symptoms

Prevent complications and disease progression

Treat Heart Failure

• sodium restriction, diuretics, ACEi, β-blockers, spironolactone

limit activity

vasodilators: LV dysfunction

oral anticoagulants: prevent thromboembolism in all patients with atrial fibrillation and in patients with moderate or severe failure

low-dose β-blockade: improve ventricular function by interrupting the cycle of reflux sympathetic activity and controlling tachycardia

Prvenet SCD

heart transplant ( elective)


Left ventricular non-compaction

Rare Primary genetic disease Sarcomeric and mitochondrial genes Non-compacted myocardium, especially in the apical part of the left ventricle


Hypertrophic cardiomyopathy (HCM)










Incidence: 1:500 adult population

Etiology: • familial disorder, AD

• NOT caused by hypertension or aortic stenosis

asymmetric LV hypertrophy: • part of septum or LV wall

LV diastolic dysfunction: • LV hypertrophy and fibrosis

LV cavity

preserved or LV contractility

disorders of sarcomeres: • muscle fibers are NOT parallel

• bizarre and disorganized arrangements (disarray) of myocytes, disorganization of myofibrillar architecture

• myocardial fibrosis

• thickening of the small intramural coronary arteries


HCM etiology


HCM - types

Normal heart HCM HCM with obstruction


Normal myocardium Asymmetric HCM Concentric HCM

atrial clot

normal myocyte

histology

enlargement and disarray

of myocytes in HCM

amounts of interstitial

fibrosis in HCM

Wang et al., Ann Intern Med. 2010 April 20; 152(8): 513–W181. Kardiologická klinika Lekárskej fakulty Univerzity Komenského a NÚSCH v Bratislave

Ventricular obstruction

Změna morfologie a lokalizace papilárních svalů

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


HCM - symptoms Asymptomatic for a long period

Dyspnea:

• end-diastolic LV pressure MiI (systolic anterior motion of the anterior mitral leaflet (SAM) pulmonary congestion

Angina pectoris:

• myocardial ischemia:

supply/demand mismatch due to muscle mass

wall tension due to impaired relaxation during diastole

abnormal intramyocardial arteries

Syncope, fatigue:

• CO, ventricular fibrillation

Heart failure

Sudden death:

• exercise (children, young adults) malignant arrhythmia ventricular fibrillation sudden death

Auscultation:

S4

Systolic murmur: due to obstruction or due to MiI Kardiologická klinika Lekárskej fakulty Univerzity Komenského a NÚSCH v Bratislave

HCM - diagnosis

ECG:

• marked LVH

• widespread deep, broad Q-waves (severe septal hypertrophy)

• arrhythmias

CXR:

• mostly normal

ECHO:

• is the diagnostic test of choice

• asymmetric hypertrophy of the myocardium (septal)

• LVOT obstruction – either resting, or provoked (Valsalva, exercise, amyl-nitrate)

• systolic anterior motion of the anterior mitral valve leaflet (SAM)

• mitral regurgitation


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


HCM - therapy

Avoid competitive sports

Maintain hydration (avoid diuretics)

β-blockers: angina pectoris, syncope

• negative inotropic effect, outflow gradient

• myocardial demand ischemia

• prolonged diastolic filling time improved LV filling, coronary perfusion

• may have an antiarrhythmic effect

Calcium channel blockers (verapamil, diltiazem):

• LV stiffness, end-diastolic pressure

• exercise tolerance

Restore and maintain sinus rhythm

Surgical myotomy of the hypertrophied septum

Alcohol-induced septal ablation (MI of septum)


HCM – therapy Septal myectomy


HCM – therapy Alcohol-Induced Septal Ablation

Restrictive Cardiomyopathy (RCM)









Restrictive Cardiomyopathy

Least Common

Diastolic dysfunction:

• Myocardial fibrosis, hypertrophy, infiltration

Non-dilated ventricles with dilated atria

Normal systolic function with impaired ventricular filling due to an abnormally stiff

(rigid) ventricle


RCM - classification

Myocardial

Non-infiltrative: • Idiopathic

• Familial

• Hypertrophic

• Scleroderma

Infiltrative: • Amyloid

• Sarcoid

• Gaucher’s disease

Storage disease: • Hemochromatosis

• Glycogen storage disease

• Fabry’s disease

Endomyocardial: • Endomyocardial fibrosis

• Hypereosinophilic syndrome

• Carcinoid

• Metastatic malignancy

• Radiation

• Chemotherapy toxicity


RCM - pathophysiology


RCM - symptoms

Rigid myocardium

diastolic ventricular pressure

ventricular filling

venous congestion

CO

Dyspnea Jugular venous distention Hepatomegaly Edema Ascites

Weakness Fatigue


RCM - Cardiac amyloidosis Amyloidosis:

• extracellular deposits of insoluble polymeric protein fibrils in tissues and organs

• inherited, in myeloma, chronic inflammation, end-stage renal disease, Alzheimer`s disease, …

• amyloids: imunnoglobuline light chains, transthyrein, β2-microglobulin, apolipoprotein, insulin, prion protein, …

Cardiac amyloidosis:

• deposition of amyloid in cardiac interstitium

• heart it firm, rubbery, noncompliant, waxy appereance

diastolic dysfunction

systolic dysfunction

arrhythmias or conduction disturbances

orthostatic hypotension


RCM - diagnosis

ECG: conduction abnormalities

CXR

ECHO mitral in-flow velocity, rapid early

diastolic filling

Catheterization – diastolic pressure

equilibration restrictive vs constrictive

hemodynamics

CT or MRI scan

Endomyocardial biopsy


RCM - treatment

Treat underlying cause • constriction which is treatable (restriction poor prognosis)

• amyloid (according typ)

• endomyocardial fibrosis (steroids, cytotoxic drugs)

• hemochromatosis (chelation, phlebotomy)

• sarcoidosis (steroids)

Diuretics - for congestive symptoms, but LV/RV filling CO

Digoxin (avoid in amyloidosis)

Antiarrhythmics for AF (amiodorone)

Pacemaker for conduction system disease

Anticoagulation for thrombus (in atrial appendages)


is a heritable heart-muscle disorder that predominantly affects the right ventricle. Progressive loss of right ventricular myocardium and its replacement by fibrofatty tissue is the pathological hallmark of the disease.1 ARVC is one of the leading causes of arrhythmic cardiac arrest in young people and athletes.

• Heritable heart-muscle disorder that

predominantly affects the right ventricle

• Progressive loss of right ventricular

myocardium and its replacement by fibrofatty

tissue is the pathological hallmark of the

disease.

• ARVC is one of the leading causes of

arrhythmic cardiac arrest in young people and

athletes.

Arrhythmogenic Right Ventricular

Cardiomyopathy


Arrhythmogenic Right Ventricular

Cardiomyopathy


Clinical presentation

• SCD

• Syncopy

• Paltitation, tachycardias

• HF (advanced stages)


Management

Antiarrytmics

ICD

Catheter ablation

HF therapy

Family screening


kardiologická klinika lekárskej fakulty univerzity

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