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Related Concept Videos

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 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 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 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...
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...

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Related Experiment Video

Updated: Jun 17, 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

Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.

Lisa M Dellefave1, Peter Pytel, Stephanie Mewborn

  • 1Department of Medicine, The University of Chicago, Chicago, Ill, USA.

Circulation. Cardiovascular Genetics
|December 25, 2009
PubMed
Summary
This summary is machine-generated.

Genetic testing identified sarcomere mutations in three patients with left ventricular noncompaction cardiomyopathy. These findings highlight the importance of genetic analysis for diagnosing this condition.

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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Published on: October 2, 2021

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Diseases

Background:

  • Sarcomere protein gene mutations are linked to hypertrophic and dilated cardiomyopathies.
  • Recent studies associate mutations in MYH7, ACTC, and TNNT2 with left ventricular noncompaction (LVNC).
  • LVNC is characterized by hypertrabeculation and potential left ventricular dysfunction.

Purpose of the Study:

  • To investigate the genetic basis of left ventricular noncompaction (LVNC) cardiomyopathy.
  • To evaluate the role of sarcomere protein gene mutations in patients with LVNC and ventricular dysfunction.

Main Methods:

  • Clinically available genetic testing was performed on three patients presenting with left ventricular dysfunction and noncompaction.
  • Analysis focused on identifying mutations in genes encoding sarcomere proteins.

Main Results:

  • All three patients carried sarcomere gene mutations.
  • Case 1: Neonatal heart failure with LVNC, identified with two distinct MYBPC3 mutations (3776delA, Q1259fs and L1200P).
  • Case 2: Pediatric heart failure with a de novo MYH7 R369Q mutation.
  • Case 3: Adult dilated cardiomyopathy with hypertrabeculation, carrying an MYH7 R1250W mutation, with a family history of heart failure.

Conclusions:

  • Genetic testing is crucial for diagnosing cardiomyopathy presenting with hypertrabeculation.
  • Identifying sarcomere mutations provides insight into the pathogenesis of LVNC.
  • This study supports genetic evaluation for unexplained cardiomyopathy with hypertrabeculation.