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 ARVC RCM Unclassified

Familial/Genetic Non-familial/Non.genetic

Unidentified Disease Idiopathic Disease

gene defect sub-type 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