Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

790
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,...
790
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

804
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...
804
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

821
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...
821
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

952
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...
952
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

753
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...
753
Mitral Valve Prolapse I: Introduction01:27

Mitral Valve Prolapse I: Introduction

1.1K
IntroductionThe mitral valve, one of the heart's four valves, regulates blood flow. These valves have flaps that open and close to direct blood properly through the heart and body. During each heartbeat, the flaps open for blood to pass through and seal shut to prevent backflow. Specifically, the mitral valve opens to allow blood flow from the heart's upper left chamber to the lower left chamber. It then closes securely as the lower left chamber contracts to pump blood to the body, preventing...
1.1K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

TANGO2-related metabolic encephalopathy-arrhythmia syndrome unmasked in 22q11.2 deletion syndrome: hemizygous pathogenic variant, complex phenotype modified by two genetic conditions, and implications for proactive crisis prevention: a case report.

BMC pediatrics·2026
Same author

Cardiovascular involvement and outcomes in Marfan syndrome: new observations on evolving aortic risk associations in a single-center cohort from Poland.

Polish archives of internal medicine·2026
Same author

Evaluation of targeted Massively Parallel Sequencing methods for forensic metagenomics.

Applied microbiology and biotechnology·2026
Same author

Expanding the phenotypic spectrum of RYBP-related neurodevelopmental disorder: report of the ninth patient worldwide.

Neurologia i neurochirurgia polska·2026
Same author

Beyond <i>SGCE</i>: expanding the clinical and molecular spectrum of <i>KCTD17</i>- and <i>KCNN2</i>-related myoclonus-dystonia.

Frontiers in neurology·2026
Same author

"Eye-Conic" Spatial Transcriptomics Reveals the Layer-Specific Molecular Alterations in Corneas of Patients With Keratoconus.

Investigative ophthalmology & visual science·2026

Related Experiment Video

Updated: Apr 29, 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

3.3K

Lamin A/C mutations in dilated cardiomyopathy.

Frédérique Tesson1, Michal Saj, Musfira Mohamed Uvaize

  • 1Faculty of Health Sciences, University of Ottawa, Ottawa, ON, Canada. ftesson@uOttawa.ca.

Cardiology Journal
|May 22, 2014
PubMed
Summary

Mutations in the lamin A/C gene (LMNA) cause dilated cardiomyopathy (DCM), a leading cause of heart failure. This review covers LMNA mutation phenotypes, disease models, and pathogenesis theories for laminopathies.

More Related Videos

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
06:23

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence

Published on: January 17, 2025

1.2K
A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish
08:09

A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish

Published on: June 7, 2018

9.2K

Related Experiment Videos

Last Updated: Apr 29, 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

3.3K
Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
06:23

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence

Published on: January 17, 2025

1.2K
A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish
08:09

A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish

Published on: June 7, 2018

9.2K

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Dilated cardiomyopathy (DCM) is a primary cause of heart failure and heart transplantation.
  • Mutations in approximately 60 genes are linked to DCM, with mutations in the lamin A/C gene (LMNA) accounting for about 6% of cases.
  • LMNA encodes type-V intermediate filaments crucial for nuclear membrane structure, chromatin organization, and gene expression.

Purpose of the Study:

  • To explore the diverse phenotypes associated with LMNA-caused DCM.
  • To review findings from cellular and animal models of DCM.
  • To discuss current theories on the pathogenesis of laminopathies.

Main Methods:

  • Literature review of phenotypes in LMNA-mutation patients.
  • Analysis of results from cellular and animal models of DCM.
  • Synthesis of prevailing theories on laminopathy pathogenesis.

Main Results:

  • LMNA mutations manifest in various cellular and physiological phenotypes.
  • Disease models provide insights into the mechanisms of LMNA-related cardiomyopathies.
  • Understanding pathogenesis is key to developing therapeutic strategies.

Conclusions:

  • LMNA mutations represent a significant genetic cause of DCM with diverse clinical presentations.
  • Cellular and animal models are instrumental in elucidating disease mechanisms.
  • Further research into laminopathy pathogenesis may lead to targeted treatments for DCM.