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 I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

483
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...
483
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

378
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...
378
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

432
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...
432
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

449
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,...
449
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

316
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...
316
Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

Mitral Stenosis II: Clinical features and Diagnostic Tests

201
Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
201

You might also read

Related Articles

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

Sort by
Same author

Scaled Multidimensional Assays of Variant Effect Identify Sequence-Function Relationships in Hypertrophic Cardiomyopathy.

Circulation·2026
Same author

Variant Site-Specific Natural History of Titin-Induced Cardiomyopathy: An International Multicenter Registry.

Circulation. Genomic and precision medicine·2026
Same author

Natural History of Asymptomatic Phenotypically Mild HCM: Insights From the SHaRe Registry.

Journal of the American College of Cardiology·2026
Same author

Correction to: The Natural History of Massive Left Ventricular Hypertrophy in Pediatric Hypertrophic Cardiomyopathy: A Multiregistry Analysis.

Circulation·2026
Same author

Sex and Age Specific Genetic Risk Across the Dilated and Arrhythmogenic Cardiomyopathy Spectrum: Insights From the SHaRe Registry.

Journal of the American College of Cardiology·2026
Same author

Novel Truncating Variant c.1222DupC in <i>RBM20</i> Causes Cardiomyopathy Consistent With Haploinsufficiency.

Circulation. Genomic and precision medicine·2026

Related Experiment Video

Updated: Jan 10, 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

4.1K

Genetic Risk Stratification in Arrhythmogenic Left Ventricular Cardiomyopathy.

Yaanik B Desai1, Victoria N Parikh1

  • 1Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Falk CRVC, 300 Pasteur Drive, Stanford, CA 94305, USA.

Heart Failure Clinics
|November 20, 2025
PubMed
Summary

Arrhythmogenic cardiomyopathy involves early malignant ventricular arrhythmias. Genetic variants in genes like desmoplakin and lamin A/C impact left ventricular function, making systolic function an unreliable risk predictor.

Keywords:
ArrhythmiaCardiomyopathyGeneticsPrecision medicineRisk predictionSudden cardiac death

More Related Videos

Isolation and Functional Characterization of Human Ventricular Cardiomyocytes from Fresh Surgical Samples
14:39

Isolation and Functional Characterization of Human Ventricular Cardiomyocytes from Fresh Surgical Samples

Published on: April 21, 2014

17.8K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.3K

Related Experiment Videos

Last Updated: Jan 10, 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

4.1K
Isolation and Functional Characterization of Human Ventricular Cardiomyocytes from Fresh Surgical Samples
14:39

Isolation and Functional Characterization of Human Ventricular Cardiomyocytes from Fresh Surgical Samples

Published on: April 21, 2014

17.8K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.3K

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Arrhythmogenic left ventricular cardiomyopathy presents with malignant ventricular arrhythmias and progressive left ventricular dysfunction.
  • Numerous genetic variants are implicated in the pathogenesis of this condition.
  • Traditional risk stratification models may not apply to genetically diagnosed cardiomyopathies.

Purpose of the Study:

  • To review recent cohort studies on arrhythmogenic cardiomyopathy patients with specific genetic variants.
  • To evaluate the role of left ventricular systolic function in risk prediction for these patients.

Main Methods:

  • Literature review of cohort studies.
  • Analysis of patients with variants in desmoplakin, lamin A/C, filamin-C, phospholamban, RBM20, TMEM43, and channelopathy genes.
  • Comparison of risk prediction using left ventricular systolic function versus genetic diagnosis.

Main Results:

  • Genetic variants in desmoplakin, lamin A/C, and other listed genes are associated with arrhythmogenic cardiomyopathy.
  • Left ventricular systolic function is an insensitive predictor of sudden cardiac death risk in patients with these genetic diagnoses.
  • Risk assessment requires consideration of specific genetic findings rather than solely functional parameters.

Conclusions:

  • Genetic diagnosis is crucial for understanding arrhythmogenic cardiomyopathy.
  • Standard risk stratification based on left ventricular systolic function is inadequate for genetically defined cardiomyopathies.
  • Future research should focus on genotype-specific risk stratification strategies.