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Related Concept Videos

Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

809
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...
809
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

801
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...
801
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

783
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,...
783
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

932
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...
932
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

745
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...
745
Cardiomyopathy VI: Nursing Management01:29

Cardiomyopathy VI: Nursing Management

477
Assessment: Nursing management of patients with cardiomyopathy begins with a thorough assessment of the patient's history, including a family history of cardiomyopathy or sudden cardiac death, personal history of heart disease, hypertension, diabetes, and any alcohol consumption or drug use.During the physical examination, assess vital signs, look for signs of heart failure (such as edema, jugular venous distention, and cyanosis), auscultate for abnormal heart sounds (like murmurs and gallops),...
477

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Updated: Apr 24, 2026

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

Jeffrey A Towbin1

  • 1The Heart Institute, Cincinnati Children's Hospital Medical Center.

Circulation Journal : Official Journal of the Japanese Circulation Society
|September 5, 2014
PubMed
Summary
This summary is machine-generated.

Genetic cardiomyopathies, diseases of the heart muscle, involve specific protein pathways. Understanding these genetic causes is key to explaining variable disease phenotypes and outcomes.

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Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Cardiomyopathies are leading causes of heart muscle disease, morbidity, and mortality.
  • A significant portion of cardiomyopathies are genetic and inheritable.
  • Recent decades have seen major advancements in discovering the genetic underpinnings of these disorders.

Purpose of the Study:

  • To describe the genetics and underlying mechanisms of various cardiomyopathies.
  • To elucidate the 'final common pathway' concept in cardiomyopathy pathogenesis.
  • To explain the genetic basis of Left Ventricular Noncompaction Cardiomyopathy (LVNC) as an overlap disorder.

Main Methods:

  • Review of genetic discoveries in cardiomyopathies over the past two decades.
  • Analysis of protein pathways implicated in different cardiomyopathy classifications.
  • Examination of genetic factors contributing to phenotypic variability in cardiomyopathies.

Main Results:

  • Mutated genes in cardiomyopathies often encode proteins forming a 'final common pathway'.
  • Specific pathways identified include sarcomere (hypertrophic, restrictive), sarcomere-sarcolemma linkage (dilated), and desmosome (arrhythmogenic).
  • LVNC involves overlap, potentially engaging any of these pathways depending on the specific form.

Conclusions:

  • Genetic mutations converge on specific protein pathways, defining cardiomyopathy types.
  • Phenotypic variability in cardiomyopathies stems from factors yet to be fully understood.
  • Understanding these genetic pathways is crucial for diagnosing and potentially treating cardiomyopathies, including LVNC.