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Related Concept Videos

Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

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,...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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...
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

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...
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

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...
Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

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Related Experiment Video

Updated: May 20, 2026

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

Published on: August 8, 2022

The mutations associated with dilated cardiomyopathy.

Ruti Parvari1, Aviva Levitas

  • 1Department of Virology and Developmental Genetics, Faculty of Health Sciences and the National Institute of Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel.

Biochemistry Research International
|July 26, 2012
PubMed
Summary

Genetic mutations cause dilated cardiomyopathy (DCM), a heart failure condition. Identifying these mutations aids in early intervention, family screening, and understanding disease mechanisms for potential therapies.

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Area of Science:

  • Genetics
  • Cardiology
  • Molecular Biology

Background:

  • Cardiomyopathy is a leading cause of heart failure and a primary reason for heart transplantation.
  • Dilated cardiomyopathy (DCM) is a significant subset of cardiomyopathy.
  • Genetic factors play a crucial role in the etiology of DCM.

Purpose of the Study:

  • To review the current genetic knowledge of dilated cardiomyopathy (DCM).
  • To highlight the clinical significance of identifying causative mutations for DCM.
  • To explore the relationship between identified genetic variations and disease pathogenesis.

Main Methods:

  • Literature review of genetic studies on dilated cardiomyopathy.
  • Analysis of identified genetic variations and their associated genes.
  • Correlation of mutations with disease mechanisms and gene function.

Main Results:

  • Numerous genetic variations have been identified as causative for hereditary DCM.
  • These mutations impact the function of specific genes involved in cardiac muscle structure and function.
  • Genetic identification enables targeted presymptomatic interventions and family screening.

Conclusions:

  • Understanding the genetic basis of DCM is vital for clinical management and therapeutic development.
  • Identification of disease-causing mutations offers significant benefits for affected families through genetic counseling and testing.
  • Further research into gene function and pathophysiology is crucial for advancing DCM treatment strategies.