What is cardiomyopathy (disease of the heart muscle)?

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From the Guidelines

Cardiomyopathy is a heterogeneous group of diseases that affect the myocardium, resulting in mechanical or electrical dysfunction, and can be classified into several types, including hypertrophic, dilated, restrictive, arrhythmogenic right ventricular, and left ventricular noncompaction cardiomyopathy. According to the most recent study 1, cardiomyopathies can be primary (genetic, acquired, or mixed) or secondary to a systemic disease process. The classification of cardiomyopathies has evolved over time, with the MOGE(S) nosology system being the most recent and comprehensive, describing the morphofunctional phenotype, organ stratification, genetic inheritance pattern, etiological annotation, and functional status 1.

Types of Cardiomyopathy

  • Hypertrophic cardiomyopathy (HCM)
  • Dilated cardiomyopathy (DCM)
  • Restrictive cardiomyopathy
  • Arrhythmogenic cardiomyopathy
  • Left ventricular noncompaction cardiomyopathy

Causes and Symptoms

Cardiomyopathy can be caused by genetic factors, long-term high blood pressure, heart valve problems, coronary artery disease, viral infections, excessive alcohol consumption, or certain medications 1. Symptoms may include shortness of breath, fatigue, swelling in the legs and feet, irregular heartbeats, and chest pain.

Diagnosis and Treatment

Early diagnosis and treatment are crucial to prevent heart failure and improve quality of life. Treatment depends on the type and severity of cardiomyopathy, but often includes medications like beta-blockers, ACE inhibitors, diuretics, and antiarrhythmics 1. Lifestyle changes such as reducing salt intake, limiting alcohol, regular exercise, and stress management are also important. In severe cases, devices like pacemakers, implantable defibrillators, or even heart transplantation may be necessary. The most recent study 1 highlights the importance of genetic evaluation and testing in the diagnosis and management of cardiomyopathies.

From the Research

Definition of Cardiomyopathy

  • Cardiomyopathy is defined as a heterogeneous group of structural, mechanical, and electrical heart muscle disorders that often correlate with life-threatening arrhythmias and progressive heart failure 2.
  • It is an anatomic and pathologic diagnosis associated with muscle or electrical dysfunction of the heart 3.
  • Cardiomyopathies are heart muscle diseases of unknown cause, classified into hypertrophic, dilated, and restrictive types 4.
  • They represent a heterogeneous group of diseases that negatively affect heart function, and may arise from genetic or genetic and acquired etiology 5.

Types of Cardiomyopathy

  • Primary cardiomyopathies include hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy/dysplasia, mitochondrial cardiomyopathy, dilated cardiomyopathy, and restrictive cardiomyopathy 6, 5.
  • Secondary cardiomyopathies include infiltrative, toxic, inflammatory, and specific heart muscle diseases 3, 4.

Characteristics of Cardiomyopathy

  • Cardiomyopathies often lead to progressive heart failure with significant morbidity and mortality 2, 3.
  • Symptoms may include shortness of breath, fatigue, cough, orthopnea, paroxysmal nocturnal dyspnea, and edema 3.
  • Diagnostic studies include electrocardiography, echocardiography, and B-type natriuretic peptide levels 6, 3.
  • Treatment options include pharmacotherapy, implantable cardioverter-defibrillators, cardiac resynchronization therapy, and heart transplantation 6, 3.

References

Guideline

Guideline Directed Topic Overview

Dr.Oracle Medical Advisory Board & Editors, 2025

Research

Cardiomyopathy: an overview.

American family physician, 2009

Research

Molecular mechanisms in cardiomyopathy.

Clinical science (London, England : 1979), 2017

Research

Cardiomyopathy: An Overview.

American family physician, 2017

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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