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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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Myocarditis is inflammation of the myocardium, which is the muscular layer of the heart.EtiologyMyocarditis has a diverse etiology, including a wide range of infectious and non-infectious causes:Infectious CausesViral: Common viruses include Coxsackie A and B, adenovirus, parvovirus B19, enteroviruses, and influenza A.Bacterial: Examples include infections caused by Streptococcus, Staphylococcus, and Mycoplasma species.Rickettsial: Infections like Rocky Mountain spotted fever can result in...
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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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Myocarditis is an inflammation of the heart muscle. The symptoms vary widely, encompassing asymptomatic presentations to severe, acute manifestations.Clinical PresentationAsymptomatic cases: In some instances, myocarditis may be asymptomatic, with the infection resolving without intervention. These cases often go undetected unless discovered incidentally through diagnostic imaging or tests conducted for other reasons.General Early Symptoms: Early symptoms of myocarditis are non-specific and can...
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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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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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Acute Myocarditis Associated With Desmosomal Gene Variants.

Enrico Ammirati1, Francesca Raimondi2, Nicolas Piriou3

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|September 29, 2022
PubMed
Summary
This summary is machine-generated.

Patients with acute myocarditis and desmosomal gene variants face a significantly higher risk of adverse cardiovascular events, including heart failure and arrhythmias. Genetic testing may aid in risk stratification for these patients.

Keywords:
acute myocarditiscardiac magnetic resonancedesmoplakindesmosomal gene variantsprognosis

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Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • The cardiovascular risk associated with acute myocarditis (AM) in patients carrying desmosomal gene variants (DGV) is not well-established.
  • Understanding this risk is crucial for patient management and prognostication.

Purpose of the Study:

  • To determine the risk of major adverse cardiovascular events, including death, ventricular arrhythmias, recurrent myocarditis, and heart failure, in patients with AM and pathogenic or likely pathogenetic DGV.

Main Methods:

  • A retrospective international study involving 97 patients with AM across 23 hospitals.
  • Patients were categorized into three groups: AM with DGV (DGV[+]), AM with negative genetic testing (DGV[-]), and AM without genetic testing.
  • Cardiac magnetic resonance (CMR) was used for diagnosis and reassessment of cardiac function and structure in 86 patients.

Main Results:

  • Patients with AM and DGV (primarily DSP variants) showed a significantly higher 5-year incidence of the main endpoint (62.3%) compared to those without DGV (17.5%) or without genetic testing (5.3%) (P < 0.0001).
  • This increased risk was primarily driven by myocarditis recurrence and ventricular arrhythmias.
  • Follow-up CMR revealed more late gadolinium-enhanced segments in the DGV(+) AM group, indicating greater myocardial scarring.

Conclusions:

  • Patients with AM and evidence of DGV experience a higher rate of adverse cardiovascular events than those with AM but without DGV.
  • Further prospective research is warranted to evaluate the utility of genetic testing in refining risk stratification for AM patients, particularly those initially assessed as low-risk.