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 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...
Imbalances in Cardiac Output01:26

Imbalances in Cardiac Output

1.3K
The heart's primary function is to pump blood throughout the body, maintaining a balance between blood sent out (cardiac output) and blood returning (venous return). If this balance is disrupted, it can result in congestive heart failure (CHF), a severe condition where the heart becomes an inefficient pump, leading to inadequate blood circulation.
CHF can occur due to the failure of either side of the heart. Left-side failure leads to pulmonary congestion—the right side continues to send...
1.3K
Heart Failure II: Pathophysiology01:29

Heart Failure II: Pathophysiology

1
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...
1
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

1
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...
1
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

1
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...
1
Pathophysiology of Heart Failure01:17

Pathophysiology of Heart Failure

1.5K
Heart failure (HF) is a progressive syndrome involving ventricles that leads to inadequate cardiac output. It can be classified based on location and output or ejection fraction. Ejection fraction (EF) is an essential measurement in the diagnosis and surveillance of HF. Reduced EF corresponds to systolic heart failure (HFrEF). However, HF with preserved ejection fraction (HFpEF) is becoming increasingly prevalent. Also known as diastolic HF, this form of HF is related to aging. The...
1.5K

You might also read

Related Articles

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

Sort by
Same author

Temporal Trends and Clinical Characteristics of Incretin-Based Therapy Use in Women With Polycystic Ovary Syndrome: A Real-World Cohort Study From a Polish Private Healthcare Network.

Diabetes, obesity & metabolism·2026
Same author

Adherence and Persistence with GLP-1-Based Therapies: International Real-World Evidence and the Role of Nutritional and Lifestyle Support-A Narrative Review.

Nutrients·2026
Same author

Beyond the binary: Clinical caution, capacity, and the cardiac catheterization laboratory in patients with serious mental illness.

General hospital psychiatry·2026
Same author

Gut microbiota and the early prevention window in type 1 diabetes and latent autoimmune diabetes in adults: a state-of-the-art narrative review on diet and metabolites.

Frontiers in endocrinology·2026
Same author

Switching patterns of GLP-1 receptor agonists from 2018 to 2025 in the largest private healthcare network in Poland.

Acta diabetologica·2026
Same author

Prevalence and Predictors of Left Atrial Appendage Thrombus by Sex.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis·2026

Related Experiment Video

Updated: Jun 10, 2025

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
08:28

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods

Published on: March 10, 2020

6.8K

Searching for genetic determinants for left ventricular non-compaction.

Michał Spałek1,2, Aneta Kusińska3, Jan Spałek4

  • 1Collegium Medicum, Department of Anatomy, Jan Kochanowski University, Kielce, Poland.

Quantitative Imaging in Medicine and Surgery
|October 21, 2024
PubMed
Summary

This study found no significant differences in single nucleotide variants (SNVs) between individuals with and without left ventricular non-compaction (LVNC) based on Petersen's criteria. However, certain mutations in ACTC1, TNNT2, and MYH7 may increase LVNC risk, warranting further investigation.

Keywords:
ACTC1 geneLDB3 geneLeft ventricular non-compaction (LVNC)MYH7 geneTNNT2 gene

More Related Videos

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level
06:02

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level

Published on: November 2, 2020

5.7K
Evaluation of Left Ventricular Structure and Function using 3D Echocardiography
06:34

Evaluation of Left Ventricular Structure and Function using 3D Echocardiography

Published on: October 28, 2020

3.9K

Related Experiment Videos

Last Updated: Jun 10, 2025

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
08:28

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods

Published on: March 10, 2020

6.8K
An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level
06:02

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level

Published on: November 2, 2020

5.7K
Evaluation of Left Ventricular Structure and Function using 3D Echocardiography
06:34

Evaluation of Left Ventricular Structure and Function using 3D Echocardiography

Published on: October 28, 2020

3.9K

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Left ventricular non-compaction (LVNC) diagnosis criteria, presentation, and classification remain controversial.
  • Approximately 190 genes are associated with LVNC, with numerous loci identified within each.
  • This study investigates single nucleotide variants (SNVs) frequency in relation to Petersen's criteria for LVNC.

Purpose of the Study:

  • To analyze the frequency of SNVs in specific genes in patients meeting Petersen's criteria for LVNC versus healthy controls.
  • To identify potential correlations between SNVs and the presence or severity of LVNC.
  • To explore the role of specific SNVs in the risk of developing LVNC.

Main Methods:

  • Retrospective analysis of cardiac magnetic resonance (CMR) studies.
  • Genetic analysis of 47 DNA samples (23 LVNC patients, 24 controls) for SNVs in MYH7, ACTC1, TNNT2, MYBPC3, LDB3, and TAZ genes.
  • Application of Petersen's criteria (NC/C ratio ≥2.3) for patient selection.

Main Results:

  • A total of 248 substitutions were identified across all analyzed samples.
  • No statistically significant differences in SNV incidence were found between LVNC patients and controls.
  • Specific SNVs (rs8037241 in ACTC1, rs2675686 in LDB3) showed differing occurrence but lacked statistical significance.
  • A notable finding was that the presence of certain mutations (rs8037241, rs3729998, rs727503240) increased LVNC risk over fourfold.
  • An inverse association was observed between SNV count in LDB3 and MYH7 (rs397516254) and meeting Petersen's criteria.

Conclusions:

  • This study is the first to compare SNV prevalence in LVNC patients meeting Petersen's criteria versus healthy individuals.
  • Similar SNV incidence was observed in analyzed gene segments (ACTC1, TNNT2, LDB3, MYH7) between groups.
  • Further research is needed to confirm the potential protective role of rs397516254 (MYH7) and the risk-increasing role of combined SNVs (rs8037241, rs3729998, rs727503240).