From the Guidelines
Cardiomyopathy is a heart muscle disease characterized by left ventricular dilatation and global or regional systolic dysfunction, not attributable to abnormal loading conditions or coronary artery disease, as defined in the most recent systematic review of clinical practice guidelines and recommendations 1.
Definition and Types
Cardiomyopathy encompasses a wide spectrum of aetiologies, ranging from overt dilated cardiomyopathy (DCM) to intermediate phenotypes within the DCM spectrum, including early heart rhythm disorders without overt structural disease, isolated left ventricular dilation, isolated scar, or hypokinetic non-dilated cardiomyopathy 1.
- The therapeutic management of DCM has traditionally overlapped with heart failure treatment, sharing primary therapeutic options, from optimal decongestion to appropriate risk stratification for arrhythmias.
- Recent advances in cardiogenetics and deep phenotyping through advanced imaging have introduced a new diagnostic perspective, contributing to the detection of subclinical forms of disease 1.
Diagnosis and Management
The diagnosis and management of cardiomyopathy should be guided by current guidelines and recommendations from major scientific societies, highlighting areas of consensus and discrepancy 1.
- Treatment should be individualized and target the underlying cause, in addition to standard systolic heart failure therapies, as suggested by the American Heart Association 1.
- In certain cases, elimination of the cause and appropriate treatment can lead to reversal of myocardial remodeling and recovery of cardiac dysfunction.
Key Considerations
- Early diagnosis is crucial for effective management of cardiomyopathy, and lifestyle changes such as reducing salt intake, limiting alcohol, regular exercise, and stress management are important complementary measures.
- In severe cases, devices like pacemakers, implantable cardioverter-defibrillators, or even heart transplantation may be necessary, as part of a comprehensive treatment plan.
From the Research
Definition and Classification of Cardiomyopathy
- Cardiomyopathy is a group of diseases characterized by structural and functional damage to the myocardium 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.
- Cardiomyopathy is defined as an anatomic and pathologic diagnosis associated with muscle or electrical dysfunction of the heart 4.
Types of Cardiomyopathy
- Major types of cardiomyopathy include:
- 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.
Causes and Risk Factors
- The etiologies of cardiomyopathies are diverse, spanning from genetic mutations impacting fundamental myocardial functions to systemic disorders that result in widespread cardiac damage 2.
- Many specific gene mutations cause primary cardiomyopathy 2.
- Environmental factors and metabolic disorders may also lead to the occurrence of cardiomyopathy 2.
- Cardiomyopathy can be a consequence of Duchenne muscular dystrophy (DMD) 5.
Diagnosis and Treatment
- Diagnostic studies include B-type natriuretic peptide levels, baseline serum chemistries, electrocardiography, and echocardiography 4.
- Treatment is targeted at relieving the symptoms of heart failure and reducing rates of heart failure-related hospitalization and mortality 4.
- Treatment options include pharmacotherapy, implantable cardioverter-defibrillators, cardiac resynchronization therapy, and heart transplantation 4, 3.
- Gene therapy and cell therapy have also emerged as pivotal clinical interventions for cardiomyopathies 2.