Hypertrophic Cardiomyopathy, Thickened Heart Muscle
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Cardiomyopathy: Symptoms, Causes & Treatment

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Cardiomyopathy is a group of conditions that affect the heart muscle itself, altering its size, thickness, or stiffness and impairing its ability to pump blood effectively. Unlike coronary artery disease or valve disorders, cardiomyopathy originates within the heart muscle rather than the blood vessels or valves.

Cardiomyopathy can be inherited or acquired and may develop gradually or present suddenly. Its impact ranges from mild, asymptomatic disease to severe heart failure or life-threatening arrhythmias.

How Cardiomyopathy Affects the Heart

The heart muscle must contract and relax efficiently to pump blood throughout the body. In cardiomyopathy, structural or functional changes disrupt this process.

Depending on the type, the heart muscle may become weakened and enlarged, abnormally thickened, or stiff and unable to fill properly. These changes reduce cardiac efficiency and may lead to symptoms, fluid buildup, or electrical instability.

Main Types of Cardiomyopathy

Cardiomyopathy is classified based on how the heart muscle is affected.

Dilated Cardiomyopathy (DCM)

Dilated cardiomyopathy is characterized by enlargement and weakening of the heart chambers, particularly the left ventricle. As the heart stretches, its ability to contract declines, leading to reduced pumping function.

Common causes include genetic factors, viral infections, alcohol or toxin exposure, chemotherapy, and long-standing high blood pressure. Many cases remain idiopathic, meaning no clear cause is identified.

DCM is a common cause of Heart Failure and is associated with an increased risk of arrhythmias.

Hypertrophic Cardiomyopathy (HCM)

Hypertrophic cardiomyopathy involves abnormal thickening of the heart muscle, most often due to inherited genetic mutations. The thickened muscle may obstruct blood flow out of the heart or impair relaxation between beats.

Symptoms range from none to chest pain, shortness of breath, palpitations, or fainting, particularly during exertion. HCM is one of the most common causes of sudden cardiac death in young individuals and athletes.

Restrictive Cardiomyopathy

Restrictive cardiomyopathy occurs when the heart muscle becomes stiff and loses its ability to relax and fill properly. Pumping strength may remain relatively preserved, but filling pressures increase.

This form is less common and may be caused by infiltrative diseases, scarring, or systemic conditions. Symptoms often resemble those of heart failure despite normal or near-normal pumping function.

Arrhythmogenic Cardiomyopathy

Arrhythmogenic cardiomyopathy primarily affects the heart’s electrical stability. Normal heart muscle is gradually replaced by fibrous or fatty tissue, increasing the risk of dangerous ventricular arrhythmias.

This condition is often inherited and may present with palpitations, fainting, or sudden cardiac arrest, sometimes before significant heart failure develops.

Symptoms of Cardiomyopathy

Symptoms depend on the type and severity of disease and may evolve over time.

Common symptoms include:

  • Shortness of breath, especially with exertion
  • Fatigue and reduced exercise tolerance
  • Palpitations or irregular heartbeat
  • Chest discomfort
  • Swelling of the legs, ankles, or abdomen
  • Dizziness or fainting

Some individuals remain asymptomatic for years and are diagnosed incidentally.

Cardiomyopathy and Arrhythmias

Cardiomyopathy significantly increases the risk of heart rhythm disorders. Structural changes and scarring disrupt normal electrical pathways, predisposing to atrial fibrillation and ventricular arrhythmias (VT, VFib).

In some patients, arrhythmias are the dominant clinical problem and may require targeted treatment to prevent serious complications, including sudden cardiac arrest.

How Cardiomyopathy Is Diagnosed

Diagnosis involves clinical evaluation, imaging, and sometimes genetic testing. Echocardiography is a cornerstone, allowing assessment of heart size, thickness, and function.

Cardiac MRI provides detailed information about tissue characteristics, scarring, and inflammation and is particularly useful in differentiating cardiomyopathy subtypes. Additional testing may be used to identify underlying causes and guide therapy.

Treatment Options for Cardiomyopathy

Treatment of cardiomyopathy is tailored to the specific type of disease, its severity, symptoms, and associated complications such as heart failure or arrhythmias. The main goals are to improve heart function, relieve symptoms, prevent disease progression, and reduce the risk of serious events such as sudden cardiac death.

Lifestyle Modifications and Daily Management

Lifestyle adjustments play an important supportive role in cardiomyopathy management and are individualized based on disease severity.

Patients are often advised to follow a heart-healthy diet, limit salt intake to reduce fluid retention, and maintain an appropriate level of physical activity. Regular exercise may be encouraged in some forms of cardiomyopathy, while activity restrictions may be necessary in others, particularly when there is a risk of dangerous arrhythmias.

Avoiding excessive alcohol, managing stress, maintaining a healthy body weight, and ensuring adequate sleep are also important. In inherited forms of cardiomyopathy, family screening and genetic counseling may be recommended.

Medication Therapy

Medications are commonly used to improve heart function, control symptoms, and reduce complications.

Depending on the type of cardiomyopathy, drugs may be prescribed to reduce the workload of the heart, improve pumping efficiency, control heart rate, prevent fluid buildup, or suppress abnormal heart rhythms. Medication regimens are often adjusted over time as the condition evolves.

Adherence to prescribed therapy is critical, as interruption of treatment can lead to worsening symptoms or increased arrhythmia risk.

Device-Based Therapies

In selected patients, implantable cardiac devices are recommended to support heart rhythm and reduce the risk of life-threatening events.

A pacemaker may be used when cardiomyopathy is associated with abnormally slow heart rates or impaired electrical conduction. The device helps maintain a reliable heart rhythm and can improve symptoms such as fatigue or dizziness.

An Implantable Cardioverter-Defibrillator is recommended for patients at increased risk of dangerous ventricular arrhythmias. An ICD continuously monitors heart rhythm and can deliver immediate therapy if a life-threatening arrhythmia occurs, significantly reducing the risk of sudden cardiac death.

In some patients with advanced disease and electrical dyssynchrony, specialized pacing systems may be used to improve coordination of heart contractions and overall cardiac efficiency.

Advanced Therapies

When cardiomyopathy progresses despite optimal medical and device therapy, advanced treatment options may be considered.

These may include specialized intravenous medications, mechanical circulatory support devices, or evaluation for heart transplantation in carefully selected patients. Such therapies are typically managed in experienced centers and reserved for advanced stages of disease.

Early referral for advanced care is important, as outcomes are better when interventions are considered before irreversible organ damage develops.

Ongoing Follow-Up and Monitoring

Cardiomyopathy requires long-term follow-up. Regular clinical assessment and imaging help monitor disease progression, adjust therapy, and identify complications early.

Patient education and active involvement in care play a central role in long-term outcomes.

Living With Cardiomyopathy

Many people with cardiomyopathy live full and active lives with appropriate medical care and follow-up. Education, regular monitoring, and early recognition of symptom changes are essential.

Family screening may be recommended in inherited forms to identify affected relatives early.

In Summary

Treatment of cardiomyopathy combines lifestyle measures, medications, and device-based therapies tailored to the specific type and severity of disease. While some patients require only monitoring and medical therapy, others benefit from implantable devices or advanced interventions. With individualized care and close follow-up, many people with cardiomyopathy can achieve good symptom control and maintain quality of life.

Reference: Cardiomyopathy

Author

Picture of Prof. Dr. Taylan Akgün

Prof. Dr. Taylan Akgün

Prof. Dr. Taylan Akgün is a cardiologist specialized in electrophysiology, with extensive experience in the diagnosis and treatment of cardiac arrhythmias. Throughout his career, he has performed over 10,000 ablation procedures, as well as thousands of pacemaker, implantable cardioverter defibrillator (ICD), and cardiac resynchronization therapy (CRT) device implantations. He currently serves patients in Istanbul.