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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...
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...
Heart Failure II: Pathophysiology01:29

Heart Failure II: Pathophysiology

Systolic Heart Failure and Compensatory MechanismsSystolic heart failure (also termed HFrEF, Heart Failure with Reduced Ejection Fraction) is the most prevalent type of heart filure. It results in a decreased volume of blood being pumped from the ventricle. The aortic arch and carotid sinuses have baroreceptors that detect reduced blood pressure, triggering the sympathetic nervous system (SNS) to release epinephrine and norepinephrine. Initially, this response aims to boost heart rate and...

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Related Experiment Video

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

Pablo Garcia-Pavia1, Marta Cobo-Marcos, Gonzalo Guzzo-Merello

  • 1Heart Failure & Cardiomyopathy Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Madrid, Spain. pablogpavia@yahoo.es

Biomarkers in Medicine
|August 3, 2013
PubMed
Summary
This summary is machine-generated.

Genetic discoveries show dilated cardiomyopathy (DCM) has genetic origins. This review classifies major and minor DCM-causing genes based on mutation frequency and discusses associated phenotypes.

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Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Pathology

Background:

  • Recent decades have highlighted the genetic basis of dilated cardiomyopathy (DCM).
  • Over 40 genes are now linked to DCM development.
  • Mutations in these genes trigger diverse and complex pathological pathways.

Purpose of the Study:

  • To review the most frequent genes associated with dilated cardiomyopathy.
  • To propose a classification of DCM genes into major and minor categories.
  • To discuss the phenotypic characteristics linked to each gene.

Main Methods:

  • Literature review of recent discoveries in DCM genetics.
  • Analysis of mutation frequency and supporting evidence for DCM-associated genes.
  • Correlation of genetic findings with clinical phenotypic characteristics.

Main Results:

  • Identification of key genes encoding sarcomeric, cytoskeletal, nuclear membrane, dystrophin-associated glycoprotein complex, and desmosomal proteins.
  • Classification of DCM genes based on prevalence and evidence.
  • Summary of distinct phenotypic presentations associated with specific gene mutations.

Conclusions:

  • Genetic factors play a significant role in the etiology of dilated cardiomyopathy.
  • A structured classification of DCM genes aids in understanding disease mechanisms.
  • Further research into gene-phenotype correlations is crucial for improved diagnosis and treatment.