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Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

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Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
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Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

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Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
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Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

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Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
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Pathophysiology of Heart Failure01:17

Pathophysiology of Heart Failure

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Heart failure (HF) is a progressive syndrome involving ventricles that leads to inadequate cardiac output. It can be classified based on location and output or ejection fraction. Ejection fraction (EF) is an essential measurement in the diagnosis and surveillance of HF. Reduced EF corresponds to systolic heart failure (HFrEF). However, HF with preserved ejection fraction (HFpEF) is becoming increasingly prevalent. Also known as diastolic HF, this form of HF is related to aging. The...
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Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

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Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
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Hypertrophic Cardiomyopathy Phenocopies: Classification, Key Features, and Differential Diagnosis.

Lucio Teresi1,2,3, Giancarlo Trimarchi4, Roberto Licordari1

  • 1Department of Clinical and Experimental Medicine, University of Messina, 98100 Messina, Italy.

Biomedicines
|December 30, 2025
PubMed
Summary

Hypertrophic cardiomyopathy (HCM) phenocopies mimic HCM but have diverse causes. Accurate diagnosis is vital for targeted treatments and improved outcomes in these complex conditions.

Keywords:
Fabry diseaseHCMamyloidosiscardiomyopathyclassificationdiagnosisdifferential diagnosishypertrophic cardiomyopathiesphenocopiessarcomeric cardiomyopathy

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Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is the most common cardiomyopathy.
  • HCM phenocopies share features with HCM but have distinct etiologies (genetic, metabolic, infiltrative).
  • Accurate diagnosis is crucial for effective management and treatment.

Purpose of the Study:

  • To provide an overview of HCM phenocopies.
  • To assist clinicians in the differential diagnosis of HCM phenocopies.
  • To highlight the therapeutic implications of accurate diagnosis.

Main Methods:

  • Review of classification based on pathophysiological mechanisms, clinical features, and genetics.
  • Stepwise diagnostic approach integrating clinical assessment, laboratory tests, ECG, echocardiography, and cardiac magnetic resonance (CMR).
  • Emphasis on genetic testing for mutation and inheritance pattern identification.

Main Results:

  • Sarcomeric HCM accounts for up to 60% of cases.
  • Non-sarcomeric phenocopies include amyloidosis, Fabry disease, glycogen storage disorders, RASopathies, and mitochondrial diseases.
  • Clinical and imaging findings are key to distinguishing phenocopies from sarcomeric HCM.

Conclusions:

  • Correct identification of HCM phenocopies is essential for guiding disease-specific therapies.
  • Targeted treatments for conditions like amyloidosis and Fabry disease significantly improve prognosis.
  • Accurate diagnosis of HCM phenocopies has direct and important therapeutic implications.