Cardiomyopathy is a group of diseases that affect the structure and function of the heart muscle. These diseases cause thickening, enlargement, or stiffness of the heart muscle, which reduces the heart's ability to pump blood effectively. Cardiomyopathy can cause heart failure, arrhythmias and increase the risk of sudden cardiac death.

What is cardiomyopathy?

Cardiomyopathy is a disease of the heart muscle that affects the heart's ability to pump blood effectively. It causes changes in the structure or function of the heart muscle, such as:

• Expansion (dilatation) of the heart muscle: the ventricles enlarge and the walls become thinner.
• Thickening of the heart muscle (hypertrophy): the walls of the heart become thicker, reducing the volume of the ventricles.
• Stiffness of the heart muscle (restriction): the heart loses its elasticity and cannot adequately fill with blood.

Importance of heart muscle

The heart muscle, or myocardium, is a vital muscle structure that continuously pumps blood through the body, providing organs and tissues with oxygen and nutrients. A healthy heart muscle is flexible and strong, adapting to the needs of the body both at rest and during exercise.

Types of cardiomyopathy

There are several types of cardiomyopathy, each with its own characteristics, causes, and treatment approaches.

Dilated cardiomyopathy (DCM)

Dilated cardiomyopathy is the most common type of cardiomyopathy. In this case, the ventricles of the heart, especially the left ventricle, expand (dilate) and their walls become thinner. This reduces the heart's pumping ability because the enlarged heart is unable to pump blood efficiently.

Causes:

• Genetic factors: in some cases, the disease is hereditary.
• Infections: viral infections can damage the heart muscle.
• Autoimmune diseases: effects of the immune system on the heart muscle.
• Metabolic disorders: vitamin or mineral deficiency.

Hypertrophic cardiomyopathy (HKM)

Hypertrophic cardiomyopathy is characterized by thickening (hypertrophy) of the heart muscle, especially the septum between the left and right ventricles. Thickening can make it difficult for blood to flow from the heart and cause arrhythmia.

Causes:

• Genetics: often an inherited disease caused by specific gene mutations.
• Autosomal dominant inheritance: a child has a 50% chance of inheriting the disease if one parent has it.

Restrictive cardiomyopathy

Restrictive cardiomyopathy is less common and is characterized by stiffness of the heart muscle that prevents the heart from filling with blood. The size of the heart may be normal, but it loses elasticity.

Causes:

• Amyloidosis: accumulation of protein deposits in the heart muscle.
• Sarcoidosis: accumulation of inflammatory cells in the heart.
• Haemochromatosis: excessive accumulation of iron in the body.
• Unknown causes: in some cases, the cause remains unknown.

Arrhythmogenic right ventricular cardiomyopathy

In this disease, muscle tissue in the right ventricle is replaced by fatty and fibrous tissue. This can cause arrhythmia and increase the risk of sudden cardiac death.

Causes:

• Genetic factors: Hereditary disease with specific gene mutations.
• Autosomal dominant inheritance.

Takotsubo cardiomyopathy (stress cardiomyopathy)

Temporary weakening of the heart muscle caused by intense physical or emotional stress. The heart shape may resemble a Japanese octopus trap, from which the name derives.

Causes:

• Excessive release of stress hormones: Effects of adrenaline and other catecholamines on the heart.

Causes of cardiomyopathy

The causes of cardiomyopathy can be varied and are often a combination of several factors.

Genetic factors:

• Heredity: many types of cardiomyopathy are linked to genetic mutations.
• Family history: if there is a family history of cardiomyopathy, the risk increases.

Infections and inflammations:

• Viral infections: coxsacks, adenoviruses and others can damage the heart muscle.
• Bacterial infections: less common but may cause myocarditis.

Metabolic disorders:

• Lack of vitamins: Vitamin B1 (thiamine) deficiency.
• Endocrine disorders: thyroid diseases, diabetes.

Autoimmune diseases:

• Lupus, rheumatoid arthritis: the activity of the immune system affects the heart muscle.

Symptoms that cannot be ignored

Symptoms of cardiomyopathy can be varied and often develop gradually.

Most common symptoms

• Shortness of breath: during exercise or even at rest.
• Fatigue and weakness: reduced ability to perform physical activities.
• Palpitations: irregular or fast heartbeat.
• Chest pain: feeling of pressure or discomfort.
• Edema: swelling of the legs, ankles or abdomen.
• Dizziness or fainting: especially during physical exertion or sudden position changes.

When to seek medical help

It is important to consult a doctor if you notice any of the following symptoms:

• sudden shortness of breath
• episodes of chest pain
• irregular heartbeat
• fainting or dizziness

Risk factors

Genetic risk factors:

• Family history: if there is a family history of sudden cardiac death or cardiomyopathy.
• Genetic disorders: some genetic diseases increase the risk.

Lifestyle factors:

• alcohol abuse.
• drug use.
• unhealthy diet and sedentary lifestyle.

Other diseases:

• Hypertension: high blood pressure can damage the heart muscle.
• Diabetes: increases the risk of heart disease.
• Autoimmune diseases

Diagnostics

Medical history and physical examination:

• Assessment of symptoms: the doctor will ask about the symptoms and when they occurred.
• Family history: Important for determining genetic risk factors.
• Physical examination: Listening to heartbeat, detecting edema.

Diagnostic tests

Electrocardiogram (ECG)

• assessment of heart rhythm and electrical activity.
• arrhythmias or heart damage may be detected.

Echocardiography

• ultrasound examination to evaluate the structure and function of the heart.
• determines heart size, wall thickness and pumping capacity.

Chest X-ray:

• detection of heart enlargement.
• signs of fluid accumulation in the lungs.

Magnetic resonance imaging (MRI):

• detailed images of the heart.
• helps determine tissue damage and the presence of scar tissue.

Stress test:

• assessment of cardiac response during exercise.
• may reveal hidden heart problems.

Blood tests:

• detection of markers of infection or inflammation.
• genetic tests.

Biopsy:

• heart tissue sample analysis.
• in rare cases to determine the exact cause.

Treatment options

Treatment depends on the type, severity, and symptoms of the cardiomyopathy.

Surgical and invasive procedures

Septal myectomy:

• removing part of the thickened heart muscle.
• used in hypertrophic cardiomyopathy.

Heart rhythm devices:

• Pacemakers: helps control heart rhythm.
• Implantable cardioverter-defibrillators (ICDs): Prevents dangerous arrhythmias.

Heart transplant:

• In severe cases, when other treatment methods are not effective.

Lifestyle changes:

• Adaptation of physical activities: avoiding heavy exercise.
• Healthy diet: reduce salt and saturated fat consumption.
• Restriction of smoking and alcohol consumption.
• Weight control.

The latest treatments:

• Gene therapy: in the research stage.
• Stem cell therapy: potential future treatment.

How to live with cardiomyopathy?

Regular medical supervision:

• regular visits to the cardiologist.

Education and support:

• Understanding the disease: helps manage it better.
• Support groups: sharing experiences with other patients.
• Psychological support: counseling with a psychologist, if necessary.

Lifestyle Adjustment:

• Healthy diet and physical activity.
• Stress management.
• Regular monitoring of symptoms.

Prevention and reduction of risk factors

Although not all forms of cardiomyopathy can be prevented, risk reduction is possible.

Family history:

• Genetic counseling: if there have been cases in the family
• Early diagnosis

Healthy lifestyle:

• Smoking cessation
• Limiting alcohol consumption
• Healthy diet
• Regular physical activities

Disease Control:

• Control of hypertension and diabetes
• Regular medical check-ups

Conclusion

Cardiomyopathy is a serious heart disease that can significantly affect quality of life. However, with early diagnosis, proper treatment and lifestyle changes, it is possible to control symptoms and live a full life. If you have symptoms or risk factors, do not hesitate to consult a doctor.

Additional resources

• Latvian Society of Cardiology: www.kardiologs.lv
• Heart health centers and clinics: Consult with specialists.