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Related Concept Videos

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 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 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 IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

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...
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

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Related Experiment Video

Updated: Jun 2, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

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

Published on: August 8, 2022

[Mutations genes in primarly cardiomyopathies].

Fahir Baraković1, Zumreta Kusljugić, Izet Masić

  • 1Kardiolosko odjeljenje, Interna klinika, Univerzitetsko klinicki centar Tuzla.

Medicinski Arhiv
|May 11, 2011
PubMed
Summary

Genetic mutations cause primary cardiomyopathies. This review details genetic and molecular insights into inherited hypertrophic, dilated, and restrictive cardiomyopathies, highlighting key genes and inheritance patterns.

Area of Science:

  • Genetics
  • Molecular Biology
  • Cardiology

Context:

  • Primary cardiomyopathies are genetic disorders affecting the heart muscle.
  • Understanding the genetic basis is crucial for diagnosis and treatment.
  • Familial forms of cardiomyopathies are inherited conditions.

Purpose:

  • To review current genetic and molecular knowledge of primary cardiomyopathies.
  • To elucidate the genetic underpinnings of hypertrophic, dilated, and restrictive cardiomyopathies.
  • To identify key genes and mutations associated with these conditions.

Summary:

  • Familial hypertrophic cardiomyopathy is autosomal dominant, often involving mutations in genes regulating contractile function, particularly beta-myosin heavy chain on chromosome 14.
  • Dilated cardiomyopathy involves mutations in over 10 genes, with frequent involvement of beta-myosin heavy chain, cardiac troponin T, phospholamban, and cardiospecific alpha-cardiac actin.

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A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish
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A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish

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An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level
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An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level

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Related Experiment Videos

Last Updated: Jun 2, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

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

Published on: August 8, 2022

A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish
08:09

A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish

Published on: June 7, 2018

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level
06:02

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level

Published on: November 2, 2020

  • Restrictive cardiomyopathy, including idiopathic forms, is increasingly recognized as heritable, often with autosomal dominant inheritance (e.g., desmoplacin mutations) and variable gene expression across multiple chromosomes, linked to programmed cell death (apoptosis).
  • Impact:

    • Provides a comprehensive overview of genetic cardiomyopathies for researchers and clinicians.
    • Facilitates improved genetic counseling and diagnosis of inherited heart muscle diseases.
    • Highlights the role of specific genes and mutations in cardiomyopathy pathogenesis, potentially guiding therapeutic strategies.