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

Aortic Regurgitation II: Clinical Features and Diagnostic Tests01:22

Aortic Regurgitation II: Clinical Features and Diagnostic Tests

375
Aortic valve regurgitation (AR) occurs when the aortic valve fails to close properly, allowing blood to flow backward from the aorta into the left ventricle. This backflow can result in two distinct clinical presentations: acute and chronic AR, each characterized by its own set of symptoms and physical findings.Acute Aortic RegurgitationAcute AR presents with a sudden onset of severe symptoms. Patients typically experience profound dyspnea (shortness of breath), chest pain, and signs of left...
375
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.2K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
15.2K
Multiple Allele Traits01:49

Multiple Allele Traits

37.9K
The Concept of Multiple Allelism
37.9K
Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

Mitral Stenosis II: Clinical features and Diagnostic Tests

194
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...
194
Aortic Regurgitation III: Medical Management01:25

Aortic Regurgitation III: Medical Management

373
Aortic regurgitation (AR) is when the aortic valve does not close or seal properly, leading to backward blood circulation from the aorta into the left ventricle during diastole. Common causes of AR include rheumatic heart disease, congenital valve defects, and aortic root dilation. Managing AR requires a multifaceted approach to alleviate symptoms, preserve left ventricular function, and address the underlying cause of the regurgitation. Patients with symptomatic AR or significant left...
373
Mitral Stenosis I: Introduction01:22

Mitral Stenosis I: Introduction

386
Mitral Valve Stenosis (MVS) is a heart condition where the mitral valve narrows, impeding blood circulation from the left atrium to the left ventricle. The etiology and pathophysiology of this condition are multifaceted, leading to a cascade of cardiovascular complications.Causes of Mitral Valve StenosisRheumatic Heart Disease: It is the main cause of mitral valve stenosis, particularly in developing nations. This condition arises from rheumatic fever, an inflammatory illness resulting from...
386

You might also read

Related Articles

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

Sort by
Same author

A Bayesian framework for longitudinal EHR and genetic discovery.

Nature·2026
Same author

ECG-Based Deep Learning to Predict Incident Atrial Fibrillation Burden.

Journal of the American Heart Association·2026
Same author

The association of eicosanoids with lung structure and function: Findings from the Multi-Ethnic Study of Atherosclerosis lung study and Framingham Heart Study.

PloS one·2026
Same author

An integrated cell atlas of 2.4 million cardiac cells across 209 individuals in health and disease.

Nature cardiovascular research·2026
Same author

Perspectives on phenotype in genetic testing for early-onset atrial fibrillation.

European journal of human genetics : EJHG·2026
Same author

Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening: Evidence from Adult Biobanks.

medRxiv : the preprint server for health sciences·2026

Related Experiment Video

Updated: Jan 8, 2026

Isolation of Human Primary Valve Cells for In vitro Disease Modeling
07:31

Isolation of Human Primary Valve Cells for In vitro Disease Modeling

Published on: April 16, 2021

3.2K

Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk.

Shinwan Kany1,2,3,4, Joel T Rämö1,5,6, Cody Hou1,7

  • 1Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Nature Genetics
|December 19, 2025
PubMed
Summary

Genetic factors influence aortic valve function and aortic stenosis risk. This study identified 166 genetic loci and confirmed the role of PCSK9 and LDLR, suggesting potential therapeutic targets for aortic stenosis prevention.

More Related Videos

A Rabbit Aortic Valve Stenosis Model Induced by Direct Balloon Injury
07:10

A Rabbit Aortic Valve Stenosis Model Induced by Direct Balloon Injury

Published on: March 31, 2023

1.5K
Echocardiographic Approaches and Protocols for Comprehensive Phenotypic Characterization of Valvular Heart Disease in Mice
12:12

Echocardiographic Approaches and Protocols for Comprehensive Phenotypic Characterization of Valvular Heart Disease in Mice

Published on: February 14, 2017

16.6K

Related Experiment Videos

Last Updated: Jan 8, 2026

Isolation of Human Primary Valve Cells for In vitro Disease Modeling
07:31

Isolation of Human Primary Valve Cells for In vitro Disease Modeling

Published on: April 16, 2021

3.2K
A Rabbit Aortic Valve Stenosis Model Induced by Direct Balloon Injury
07:10

A Rabbit Aortic Valve Stenosis Model Induced by Direct Balloon Injury

Published on: March 31, 2023

1.5K
Echocardiographic Approaches and Protocols for Comprehensive Phenotypic Characterization of Valvular Heart Disease in Mice
12:12

Echocardiographic Approaches and Protocols for Comprehensive Phenotypic Characterization of Valvular Heart Disease in Mice

Published on: February 14, 2017

16.6K

Area of Science:

  • Cardiovascular Genetics
  • Medical Imaging
  • Genomics

Background:

  • Genetic factors significantly impact normal aortic valve function and the risk of developing aortic stenosis.
  • Understanding these genetic influences is crucial for identifying early disease mechanisms and potential preventive strategies.

Purpose of the Study:

  • To investigate the genetic architecture of aortic valve function and its relationship with aortic stenosis risk.
  • To identify novel genetic loci associated with aortic valve traits and aortic stenosis.
  • To explore the causal roles of specific lipoproteins in aortic valve function.

Main Methods:

  • Utilized deep learning for quantitative magnetic resonance imaging measurements of aortic valve function (peak velocity, mean gradient, aortic valve area).
  • Conducted genome-wide association studies (GWAS) in a large cohort (UK Biobank, n=59,571).
  • Employed multitrait analysis of GWAS (MTAG) to integrate aortic valve traits and aortic stenosis GWAS data, and Mendelian randomization to assess causality.

Main Results:

  • Identified 166 distinct genetic loci associated with aortic valve function and/or aortic stenosis, including known genes PCSK9 and LDLR.
  • Developed a polygenic score (PGS) for aortic stenosis that showed significant association with disease risk in independent cohorts (All of Us, Mass General Brigham Biobank).
  • Mendelian randomization provided evidence for a potential causal role of lipoprotein(a) (Lp(a)) and low-density lipoprotein (LDL) in aortic valve function.

Conclusions:

  • Genetic variations play a significant role in aortic valve function and predisposition to aortic stenosis.
  • The identified genetic loci and pathways offer insights into the early pathogenesis of aortic stenosis.
  • Lipoproteins like Lp(a) and LDL may be causal factors, suggesting potential targets for preventive therapies aimed at modifying these pathways.