From the Guidelines
Cardiomyopathy is a disease of the heart muscle that makes it harder for the heart to pump blood to the rest of the body, and it can be classified into several types, including dilated, hypertrophic, restrictive, and arrhythmogenic cardiomyopathy, as defined by the 2021 ACC/AHA key data elements and definitions for heart failure 1.
Types of Cardiomyopathy
- Dilated cardiomyopathy: characterized by an enlarged heart
- Hypertrophic cardiomyopathy: characterized by a thickened heart muscle
- Restrictive cardiomyopathy: characterized by a stiffened heart muscle
- Arrhythmogenic cardiomyopathy: characterized by the replacement of heart muscle with scar tissue
Causes and Risk Factors
Cardiomyopathy can be inherited or caused by factors such as high blood pressure, heart attacks, viral infections, alcohol abuse, or certain medications, as noted in the 2014 ESC guidelines on diagnosis and management of hypertrophic cardiomyopathy 1.
Symptoms and Treatment
Symptoms may include shortness of breath, fatigue, swelling in the legs, irregular heartbeat, and chest pain. Treatment depends on the type and severity but often includes medications such as beta-blockers, ACE inhibitors, diuretics, and antiarrhythmics, as well as lifestyle changes like reducing salt intake, limiting alcohol, regular exercise, and stress management, as recommended by the 2021 ACC/AHA key data elements and definitions for heart failure 1.
Importance of Early Diagnosis and Treatment
Early diagnosis and treatment are crucial to prevent heart failure and improve quality of life, as emphasized in the task force on sudden cardiac death of the European Society of Cardiology 1.
Key Considerations
- Cardiomyopathy can be a significant cause of sudden cardiac death, particularly in young athletes, as noted in the task force on sudden cardiac death of the European Society of Cardiology 1.
- Family history and genetic testing can play a crucial role in identifying individuals at risk for cardiomyopathy, as recommended by the 2021 ACC/AHA key data elements and definitions for heart failure 1.
From the Research
Definition and Classification of Cardiomyopathy
- Cardiomyopathy is an anatomic and pathologic diagnosis associated with muscle or electrical dysfunction of the heart 2.
- It can be separated into primary (genetic, mixed, or acquired) and secondary categories, resulting in varied phenotypes including dilated, hypertrophic, and restrictive patterns 3.
- Cardiomyopathies represent a heterogeneous group of diseases that often lead to progressive heart failure with significant morbidity and mortality 2.
Types of Cardiomyopathy
- Major types include dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, and arrhythmogenic right ventricular cardiomyopathy 2.
- Hypertrophic cardiomyopathy is the most common primary cardiomyopathy and can cause exertional dyspnea, presyncope, atypical chest pain, heart failure, and sudden cardiac death 3.
- Dilated cardiomyopathy can be genetic or acquired and typically presents with classic symptoms of heart failure with reduced ejection fraction 3.
Diagnosis and Treatment
- Diagnostic studies include B-type natriuretic peptide levels, baseline serum chemistries, electrocardiography, and echocardiography 2.
- Treatment is targeted at relieving the symptoms of heart failure and reducing rates of heart failure-related hospitalization and mortality 2.
- Treatment options include pharmacotherapy, implantable cardioverter-defibrillators, cardiac resynchronization therapy, and heart transplantation 2.
- Beta-blockers have been shown to improve cardiac function in patients with idiopathic dilated cardiomyopathy and other forms of cardiomyopathy 4.
Pathogenesis and Therapeutic Interventions
- The etiologies of cardiomyopathies are diverse, spanning from genetic mutations impacting fundamental myocardial functions to systemic disorders that result in widespread cardiac damage 5.
- Gene therapy and cell therapy have emerged as pivotal clinical interventions for cardiomyopathies, with gene therapy targeting causal genes holding promise in offering therapeutic advantages to individuals diagnosed with cardiomyopathies 5.