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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 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 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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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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Imbalances in Cardiac Output01:26

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The heart's primary function is to pump blood throughout the body, maintaining a balance between blood sent out (cardiac output) and blood returning (venous return). If this balance is disrupted, it can result in congestive heart failure (CHF), a severe condition where the heart becomes an inefficient pump, leading to inadequate blood circulation.
CHF can occur due to the failure of either side of the heart. Left-side failure leads to pulmonary congestion—the right side continues to send...
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Updated: Dec 30, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Familial Dilated Cardiomyopathy.

Stacey Peters1, Renee Johnson2, Samuel Birch3

  • 1Department of Cardiology, Royal Melbourne Hospital, Melbourne, Vic, Australia; Department of Genomic Medicine, Royal Melbourne Hospital, Melbourne, Vic, Australia; Department of Medicine, University of Melbourne, Melbourne, Vic, Australia.

Heart, Lung & Circulation
|January 25, 2020
PubMed
Summary
This summary is machine-generated.

Genetic testing advances dilated cardiomyopathy (DCM) research, aiding variant identification. Understanding genotype-phenotype links guides precision medicine and preventative care for families with DCM.

Keywords:
Familial dilated cardiomyopathyGenetics

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Area of Science:

  • Cardiovascular Genetics
  • Genomics and Precision Medicine

Background:

  • Human genome sequencing advances have revitalized genetic studies of dilated cardiomyopathy (DCM).
  • Interpreting genetic variants and identifying pathogenic mutations in DCM remains challenging due to the vast number of rare variants.
  • Genetic factors play a significant role in DCM pathogenesis, with over 100 implicated genes.

Purpose of the Study:

  • To explore the role of genetic factors in dilated cardiomyopathy (DCM) pathogenesis.
  • To discuss the challenges and advancements in genetic testing for DCM.
  • To highlight the importance of genotype-phenotype correlations in clinical management and precision medicine.

Main Methods:

  • Review of current literature on human genome sequencing and dilated cardiomyopathy genetics.
  • Analysis of genetic testing sensitivity and diagnostic yield in DCM.
  • Correlation of genetic variants with clinical phenotypes, including age of onset, penetrance, and extra-cardiac features.

Main Results:

  • Genetic testing sensitivity for DCM is approximately 25-40%, even in familial cases.
  • Emerging data reveals variability in DCM onset, penetrance, and associated features based on genotype.
  • Specific gene variants are linked to high arrhythmogenicity and rapid heart failure progression.

Conclusions:

  • Identifying causative variants in DCM enables predictive testing and preventative interventions for at-risk family members.
  • Advanced imaging techniques aid in detecting pre-clinical dysfunction in asymptomatic carriers.
  • Further research is needed to optimize genotype-based therapies and precision medicine strategies for familial DCM.