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Related Concept Videos

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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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 IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

587
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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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 I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

619
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 VI: Nursing Management01:29

Cardiomyopathy VI: Nursing Management

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Assessment: Nursing management of patients with cardiomyopathy begins with a thorough assessment of the patient's history, including a family history of cardiomyopathy or sudden cardiac death, personal history of heart disease, hypertension, diabetes, and any alcohol consumption or drug use.During the physical examination, assess vital signs, look for signs of heart failure (such as edema, jugular venous distention, and cyanosis), auscultate for abnormal heart sounds (like murmurs and gallops),...
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A Common <i>CD36</i> Variant and the Genetic Landscape of Dilated Cardiomyopathy in Individuals of African Ancestry.

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Modeling and Evaluation of Murine Diabetic Cardiomyopathy Model
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Genetic cardiomyopathies.

Jane E Wilcox1, Ray E Hershberger2

  • 1Division of Cardiology, Northwestern University Feinberg School of Medicine.

Current Opinion in Cardiology
|March 22, 2018
PubMed
Summary
This summary is machine-generated.

Next-generation sequencing advances cardiovascular genetics, enabling precise genetic testing for hypertrophic (HCM), dilated (DCM), and arrhythmogenic right ventricular cardiomyopathies (ARVC). This improves risk stratification and personalized patient care.

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Area of Science:

  • Cardiovascular Genetics
  • Genomic Medicine
  • Next-Generation Sequencing

Background:

  • Cardiovascular genetic medicine has advanced significantly due to next-generation sequencing (NGS).
  • NGS enables the creation of extensive reference databases, enhancing the precision of genetic analysis.
  • Compiled cardiomyopathy datasets from commercial and research sources further refine cardiovascular genetic insights.

Purpose of the Study:

  • To detail recent progress in cardiovascular genetics driven by NGS.
  • To establish a practical framework for genetic testing in hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC).

Main Methods:

  • Leveraging next-generation sequencing (NGS) technologies.
  • Analysis of large-scale genetic databases and integrated cardiomyopathy datasets.
  • Review of current evidence supporting genetic testing in clinical practice.

Main Results:

  • Over 1000 pathogenic mutations identified in HCM (sarcomere proteins) and ARVC (desmosome proteins).
  • Dilated cardiomyopathy (DCM) exhibits diverse genetic underpinnings, indicating complex pathophysiology.
  • Genetic factors like reduced penetrance and variable expressivity complicate familial cardiomyopathy diagnosis.

Conclusions:

  • Genetic testing is supported by current evidence for improved risk stratification in HCM, DCM, and ARVC.
  • Implementing genetic testing requires understanding its evaluation, clinical implications, and limitations.
  • Personalized care in cardiomyopathies is enhanced through effective genetic testing strategies.