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Cardiomyopathy – Causes, Symptoms and Treatment

Cardiomyopathy is a disease of the heart muscle that impairs its ability to pump blood effectively. It can lead to heart failure and life-threatening arrhythmias.

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Things worth knowing about "Cardiomyopathy"

Cardiomyopathy is a disease of the heart muscle that impairs its ability to pump blood effectively. It can lead to heart failure and life-threatening arrhythmias.

What is Cardiomyopathy?

Cardiomyopathy refers to a group of diseases that affect the heart muscle (myocardium), altering its structure or function. These changes reduce the heart´s ability to pump blood effectively and can ultimately lead to heart failure. Cardiomyopathy can affect people of all ages and is a significant cause of cardiovascular morbidity and mortality worldwide.

Types of Cardiomyopathy

There are several main types of cardiomyopathy, each with distinct characteristics:

Dilated Cardiomyopathy (DCM): The heart muscle becomes enlarged and weakened, reducing its pumping capacity. This is the most common form.
Hypertrophic Cardiomyopathy (HCM): The heart muscle becomes abnormally thickened, which can obstruct blood flow and increase the risk of sudden cardiac death.
Restrictive Cardiomyopathy (RCM): The heart muscle becomes stiff and less elastic, making it difficult for the heart chambers to fill properly.
Arrhythmogenic Cardiomyopathy (ACM/ARVC): Heart muscle tissue is replaced by fatty or fibrous tissue, predisposing to dangerous arrhythmias.
Unclassified Cardiomyopathies: Forms that do not fit neatly into the above categories, such as Takotsubo cardiomyopathy (stress cardiomyopathy).

Causes

Cardiomyopathies may be primary (genetic or idiopathic) or secondary (caused by another disease or external factor). Common causes include:

Genetic mutations (familial cardiomyopathy)
Coronary artery disease and myocardial infarction
High blood pressure (arterial hypertension)
Viral infections of the heart (myocarditis)
Excessive alcohol consumption
Certain medications, such as chemotherapy agents
Metabolic disorders such as diabetes mellitus or thyroid disease
Pregnancy (peripartum cardiomyopathy)

Symptoms

Symptoms of cardiomyopathy vary depending on the type and severity of the disease. Common symptoms include:

Shortness of breath (dyspnoea), especially during physical activity or when lying flat
Fatigue and reduced exercise tolerance
Swelling (oedema) in the legs, ankles, or abdomen
Rapid or irregular heartbeat (palpitations)
Dizziness or fainting (syncope)
Chest pain or a sensation of pressure in the chest

In some cases, particularly with hypertrophic cardiomyopathy, sudden cardiac death may be the first manifestation of the disease, making early diagnosis critically important.

Diagnosis

Diagnosis of cardiomyopathy typically involves a combination of investigations:

Medical history and physical examination: Assessment of symptoms, family history, and risk factors.
Electrocardiogram (ECG): Records the electrical activity of the heart to detect rhythm abnormalities.
Echocardiography: Ultrasound examination of the heart to evaluate its structure and function.
Cardiac MRI: Provides detailed imaging of the heart muscle and surrounding structures.
Blood tests: Measurement of cardiac biomarkers such as BNP and troponin.
Genetic testing: Recommended when a hereditary form of cardiomyopathy is suspected.
Endomyocardial biopsy: Tissue sampling from the heart muscle in selected cases.

Treatment

Treatment depends on the type and severity of cardiomyopathy. The goals are to relieve symptoms, slow disease progression, and prevent complications such as sudden cardiac death.

Medical Therapy

ACE inhibitors or ARBs: Reduce the workload on the heart and slow cardiac remodelling.
Beta-blockers: Lower heart rate and reduce the oxygen demand of the heart muscle.
Diuretics: Help eliminate excess fluid and reduce swelling.
Antiarrhythmics: Used to manage abnormal heart rhythms.
Anticoagulants: Blood thinners to prevent blood clots, thrombosis, and stroke.

Interventional and Surgical Therapy

Implantable Cardioverter-Defibrillator (ICD): A device implanted in the chest that detects and treats life-threatening arrhythmias.
Cardiac Resynchronisation Therapy (CRT): A specialised pacemaker that improves the coordination of heart contractions.
Septal myectomy or alcohol septal ablation: Procedures used in obstructive hypertrophic cardiomyopathy to reduce the thickened muscle.
Heart transplantation: Considered in severe, treatment-resistant cases as a last resort.

Lifestyle Measures

Avoiding alcohol and tobacco
Adapted physical activity under medical supervision
Low-sodium diet in the presence of heart failure
Regular cardiology follow-up appointments

References

Elliott P et al. - Classification of the cardiomyopathies: a position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. European Heart Journal, 2008. doi:10.1093/eurheartj/ehm342
Pinto YM et al. - Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice. European Heart Journal, 2016. doi:10.1093/eurheartj/ehv727
Maron BJ et al. - Contemporary Definitions and Classification of the Cardiomyopathies. Circulation, 2006. doi:10.1161/CIRCULATIONAHA.106.174287

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