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Related Concept Videos

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Desmosomes

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The term desmosome derives from the Greek words "desmo" and "soma" meaning "adhesion bodies." This structure was first observed during the late 1800s and described as small, dense nodules in the epidermis. Desmosomes are button-like structures that help form an interlinked network of intermediate filaments across the cells. These junctions are  essential to hold cells together under mechanical stress and to maintain tissue integrity. Desmosomes are multi-protein...
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Cardiomyopathy I: Introduction and Classification01:25

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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 II: Dilated Cardiomyopathy01:30

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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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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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Cytoskeletal Linker Proteins - Plakins01:09

Cytoskeletal Linker Proteins - Plakins

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Plakins are large proteins with binding domains for microtubules, microfilaments, intermediate filaments, and membrane-associated protein complexes at cell junctions. Plakin functions are evolutionarily conserved and are primarily involved in organizing the different components of the cytoskeleton by crosslinking them to each other and connecting them to the cell-matrix and cell adhesion complexes. They are also known to interact with signal transducers, serve as scaffolds for signaling...
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Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

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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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Sarcomere Shortening of Pluripotent Stem Cell-Derived Cardiomyocytes using Fluorescent-Tagged Sarcomere Proteins.
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Desmoplakin Cardiomyopathy.

Daniel D Han1, Gregory Jew2, Katherine Kaproth-Joslin3,4

  • 1Medical Scientist Training Program, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA.

The International Journal of Cardiovascular Imaging
|March 9, 2026
PubMed
Summary
This summary is machine-generated.

Desmoplakin (DSP) cardiomyopathy, a genetic heart condition from DSP gene mutations, causes severe heart problems. Cardiac MRI findings may mimic other heart diseases, requiring careful diagnosis.

Keywords:
Desmoplakin Cardiomyopahty

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Area of Science:

  • Cardiology
  • Genetics
  • Medical Imaging

Background:

  • Desmoplakin (DSP) cardiomyopathy is an inherited cardiac condition.
  • It stems from mutations in the desmosome gene DSP.
  • Consequences include arrhythmias, heart failure, and sudden cardiac death.

Purpose of the Study:

  • To highlight the diagnostic challenges of Desmoplakin (DSP) cardiomyopathy.
  • To differentiate its characteristic Cardiac MRI findings from other myocardial diseases.

Main Methods:

  • Review of clinical presentations of Desmoplakin (DSP) cardiomyopathy.
  • Analysis of Cardiac MRI features, specifically late gadolinium enhancement patterns.

Main Results:

  • Desmoplakin (DSP) cardiomyopathy presents with arrhythmias and heart failure.
  • Cardiac MRI typically shows a distinct ring-like subepicardial late gadolinium enhancement.
  • This pattern can be misdiagnosed as myocarditis or fatty infiltration.

Conclusions:

  • Accurate diagnosis of Desmoplakin (DSP) cardiomyopathy is crucial.
  • Recognizing the specific Cardiac MRI "ring" enhancement pattern aids differentiation.
  • Distinguishing DSP cardiomyopathy from mimics like myocarditis is vital for appropriate patient management.