What is Cardiomyopathy? Types, Symptoms, and Treatment Options

What is Cardiomyopathy?

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Cardiomyopathy literally means “heart muscle disease.” This term describes a group of conditions in which the heart muscle (myocardium) shows abnormal structure or function. In cardiomyopathy, the heart muscle may thicken, stiffen, thin, or be replaced by abnormal tissue. These changes reduce the heart’s ability to pump blood effectively.

A normal heart pumps approximately 5-6 liters of blood per minute, delivering oxygen and nutrients to all organs of the body. In cardiomyopathy, this pumping capacity decreases, leading to inadequate blood supply to body organs and the emergence of heart failure symptoms.

Why Cardiomyopathy Matters

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Cardiomyopathy is one of the significant causes of heart failure and sudden cardiac death worldwide:

• Heart failure: Most cardiomyopathies progress to heart failure over time
• Arrhythmia risk: There is risk of irregular heart rhythms and sudden death
• Young age impact: Some types particularly affect young and middle-aged individuals
• Genetic transmission: Many types of cardiomyopathy are passed down within families

Types of Cardiomyopathy

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Cardiomyopathies are divided into different types based on structural changes in the heart muscle:

1. Dilated Cardiomyopathy (DCM)

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The most common type of cardiomyopathy. The left ventricle of the heart enlarges and weakens, reducing blood pumping capacity.

Characteristics:

• Heart chambers enlarge (dilation)
• Heart walls become thinner
• Ejection fraction decreases (normally 55-70%, in DCM <40%)
• Can occur at any age, but more common between ages 20-60

Causes:

• Idiopathic (unknown cause) - in 50% of cases
• Genetic mutations
• Viral infections (post-myocarditis)
• Alcohol use
• Chemotherapy drugs
• Pregnancy (peripartum cardiomyopathy)
• Uncontrolled hypertension
• Thyroid diseases

2. Hypertrophic Cardiomyopathy (HCM)

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Characterized by abnormal thickening of the heart muscle. Usually inherited genetically and is an important cause of sudden death in young athletes.

Characteristics:

• Heart walls thicken abnormally (≥15 mm)
• Left ventricular outflow tract may narrow (obstructive type)
• Heart becomes stiff, relaxation becomes difficult
• Occurs in 1 in 400-500 people

Causes:

• Genetic mutations (in 60-70% of cases)
• Changes in genes encoding sarcomere proteins
• Autosomal dominant inheritance (50% chance of passing from parent)

3. Restrictive Cardiomyopathy (RCM)

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The rarest type of cardiomyopathy. The heart walls stiffen and relaxation is impaired.

Characteristics:

• Heart walls are stiff and inflexible
• Heart chambers cannot fill adequately with blood
• Systolic function may be preserved, diastolic function is impaired
• Prognosis is generally poor

Causes:

• Amyloidosis (abnormal protein accumulation)
• Sarcoidosis
• Hemochromatosis (iron accumulation)
• Post-radiation therapy
• Idiopathic

4. Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

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Characterized by replacement of right ventricular muscle tissue with fat and fibrous tissue.

Characteristics:

• Primarily affects the right ventricle
• Can cause sudden death in young athletes
• Ventricular arrhythmias are common
• Occurs in 1 in 5000 people

Causes:

• Genetic mutations (desmosomal proteins)
• Autosomal dominant inheritance
• Intense exercise may trigger the disease

5. Takotsubo Cardiomyopathy (Broken Heart Syndrome)

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A temporary stress-related type of cardiomyopathy.

Characteristics:

• Develops after sudden emotional or physical stress
• Balloon-like bulging of the left ventricular apex
• Symptoms similar to heart attack
• Usually recovers within a few weeks
• More common in post-menopausal women

Symptoms of Cardiomyopathy

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Cardiomyopathy symptoms vary depending on the type and stage of the disease. There may be no symptoms in early stages.

Common Symptoms

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• Shortness of breath: Especially with exertion or when lying down
• Fatigue: Unusual weakness and energy loss
• Edema: Swelling in legs, ankles, and abdomen
• Palpitations: Feeling of rapid or irregular heartbeat
• Dizziness: Feeling lightheaded or faint
• Chest pain: Especially during exercise

Symptoms Specific to Hypertrophic Cardiomyopathy

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• Shortness of breath and chest pain during exercise
• Fainting (syncope), especially after exercise
• Heart murmur (detected during examination)

Serious Symptoms (Require Emergency Care)

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• Severe chest pain
• Sudden fainting
• Severe shortness of breath
• Irregular and rapid heartbeat

Risk Factors and Causes

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Genetic Factors

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• Family history: History of cardiomyopathy in first-degree relatives increases risk
• Genetic mutations: Most HCM and ARVC are genetic in origin
• Genetic testing: Family screening is recommended in suspected cases

Acquired Factors

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• Coronary artery disease: Heart attacks cause muscle damage
• Hypertension: Long-term high blood pressure thickens the heart muscle
• Viral infections: DCM can develop after myocarditis
• Alcohol and substance use: Alcohol and cocaine damage heart muscle
• Chemotherapy: Some cancer drugs are cardiotoxic
• Metabolic diseases: Diabetes, thyroid diseases, obesity
• Pregnancy: Peripartum cardiomyopathy is rare but serious

Diagnostic Methods

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Cardiomyopathy diagnosis is made through a combination of various tests:

Physical Examination

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• Heart sounds and murmurs are evaluated
• Neck vein distension
• Liver enlargement
• Leg edema

Electrocardiogram (ECG)

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• Heart rhythm and conduction are evaluated
• Left ventricular hypertrophy findings in HCM
• Arrhythmia detection

Echocardiography

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• Most important test for cardiomyopathy diagnosis
• Size of heart chambers and wall thickness
• Pumping function (ejection fraction)
• Valve diseases

Cardiac MRI (Magnetic Resonance Imaging)

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• Detailed imaging of heart muscle
• Detection of fibrosis and scar tissue
• Gold standard for ARVC diagnosis
• Prognosis determination

Genetic Tests

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• In cases of suspected HCM, DCM, and ARVC
• Important for family screening
• Helps with treatment and follow-up planning

Cardiac Catheterization

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• To rule out coronary artery disease
• Intracardiac pressure measurements
• Biopsy can be taken (when needed)

Treatment Approaches

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Cardiomyopathy treatment is individualized based on the type, stage, and underlying cause of the disease. The main goals of treatment are to reduce symptoms, slow disease progression, and prevent complications.

1. Lifestyle Modifications

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Important for all cardiomyopathy patients:

• Salt restriction: Should be kept below 2-3 grams daily
• Fluid restriction: May be necessary in heart failure
• Alcohol: Complete cessation is recommended (especially in alcoholic cardiomyopathy)
• Smoking: Must be completely stopped
• Exercise: Mild to moderate activity under doctor supervision
• Weight control: Achieve and maintain ideal weight

2. Medication Therapy

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Heart Failure Medications (for DCM):

• ACE inhibitors / ARBs: Enalapril, lisinopril, valsartan
• Beta blockers: Carvedilol, bisoprolol, metoprolol
• Mineralocorticoid antagonists: Spironolactone, eplerenone
• SGLT2 inhibitors: Dapagliflozin, empagliflozin (new treatments)
• Diuretics: To reduce fluid accumulation
• Digoxin: For symptom control in some patients

Specific Treatments for HCM:

• Beta blockers: First-choice medications
• Calcium channel blockers: Verapamil, diltiazem
• Mavacamten: Newly approved drug for obstructive HCM
• Amiodarone: For arrhythmia control

Anticoagulant Therapy:

• Blood thinners in the presence of atrial fibrillation
• To prevent clot formation

3. Device Therapies

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Implantable Cardioverter Defibrillator (ICD):

• Reduces risk of sudden cardiac death
• Delivers shock for dangerous arrhythmias
• May be indicated in HCM and DCM
• For patients with low ejection fraction

Cardiac Resynchronization Therapy (CRT):

• Enables coordinated contraction of heart muscle
• In patients with left bundle branch block
• Improves heart failure symptoms

4. Interventional and Surgical Treatments

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Septal Myectomy (for HCM):

• Surgical removal of thickened septum
• Gold standard treatment for obstructive HCM
• Success rate over 95% at experienced centers

Septal Alcohol Ablation:

• Minimally invasive procedure performed via catheter
• Alternative for patients with high surgical risk
• Controlled damage to septum provides thinning

Heart Transplantation:

• In end-stage heart failure
• In patients not responding to other treatments
• Average survival over 10 years

Left Ventricular Assist Devices (LVAD):

• As a bridge to heart transplant
• Permanent therapy in patients not suitable for transplant
• Supports heart’s pumping function

Lifestyle Recommendations

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Things to pay attention to when living with cardiomyopathy:

Nutrition

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• Heart-healthy diet (Mediterranean diet)
• Low sodium consumption
• Emphasize vegetables, fruits, and whole grains
• Avoid saturated fats
• Limit alcohol and caffeine

Physical Activity

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• Determine an appropriate exercise program with your doctor
• Mild to moderate aerobic exercise
• Avoid heavy lifting
• Be careful not to overexert yourself
• Monitor symptoms and know your limits

Regular Follow-up

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• Attend cardiology check-ups regularly
• Take your medications regularly
• Track weight changes
• Note changes in symptoms

Psychological Support

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• Coping with chronic illness can be difficult
• Join support groups
• Seek psychological help if needed
• Family support is important

Frequently Asked Questions (FAQ)

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When Should You See a Doctor?

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Seek medical help without delay in the following situations:

• New or worsening shortness of breath
• Increasing swelling in legs and ankles
• Fainting or feeling like you might faint
• Chest pain or pressure
• Rapid and irregular heartbeat
• Unusual fatigue and weakness
• Waking up at night with shortness of breath

If there is a family history of cardiomyopathy or sudden death, cardiological evaluation is recommended even without symptoms. Early diagnosis and treatment positively affect the course of the disease.

If you have questions about cardiomyopathy or would like to schedule an evaluation, please feel free to contact me.