Alterations in myocardial gene expression as a basis for cardiomyopathies and heart failure

Matthew R Taylor1, Michael R Bristow

  • 1University of Colorado Cardiovascular Institute, Denver, USA.

Novartis Foundation Symposium
|October 6, 2006
PubMed

Insights

Altered gene expression, including mutations and variations, drives heart muscle disease and heart failure progression. Understanding these genetic changes is key to managing myocardial conditions and chronic heart failure.

Area of Science:

  • Cardiovascular Biology
  • Molecular Genetics
  • Genomics

Background:

  • Heart muscle disease and chronic heart failure are significant health concerns.
  • Altered gene expression is a known contributor to these conditions.
  • Understanding the genetic basis is crucial for therapeutic development.

Purpose of the Study:

  • To discuss the role of altered gene expression in heart muscle disease.
  • To explore how genetic changes influence the progression of heart failure.
  • To examine the interaction of genetic alterations with therapeutic interventions.

Main Methods:

  • Review of existing literature on gene expression in cardiovascular disease.
  • Categorization of gene expression alterations relevant to myocardial function.
  • Analysis of the impact of genetic variations on disease natural history.

Main Results:

  • Identified three primary mechanisms of altered gene expression in heart disease: gene mutations, polymorphic variations, and regulated changes in gene expression.
  • These alterations affect critical myocardial proteins and cellular functions.
  • Genetic changes influence disease progression and response to treatment.

Conclusions:

  • Altered gene expression is fundamental to the pathogenesis of heart muscle disease and heart failure.
  • Specific genetic mechanisms, including mutations and variations, play critical roles.
  • Targeting gene expression pathways holds potential for novel therapeutic strategies.

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...
Myocarditis I: Introduction01:21

Myocarditis I: Introduction

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...
Pathophysiology of Heart Failure01:17

Pathophysiology of Heart Failure

Heart failure (HF) is a progressive syndrome involving ventricles that leads to inadequate cardiac output. It can be classified based on location and output or ejection fraction. Ejection fraction (EF) is an essential measurement in the diagnosis and surveillance of HF. Reduced EF corresponds to systolic heart failure (HFrEF). However, HF with preserved ejection fraction (HFpEF) is becoming increasingly prevalent. Also known as diastolic HF, this form of HF is related to aging. 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,...
Heart Failure I: Introduction01:27

Heart Failure I: Introduction

Heart failure refers to a clinical syndrome caused by structural or functional cardiac disorders that prevent the heart from pumping an adequate amount of blood to meet the body's metabolic needs. This condition often arises from myocardial infarction or ischemia, leading to decreased cardiac output, reduced tissue perfusion, impaired gas exchange, fluid volume imbalance, and decreased functional ability.Heart failure can result from disruptions in the mechanisms that regulate cardiac output...