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Related Concept Videos

Mitral Valve Prolapse I: Introduction01:27

Mitral Valve Prolapse I: Introduction

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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...
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Mitral Valve Prolapse II: Assessment and Management01:22

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IntroductionA range of clinical features characterizes Mitral Valve Prolapse (MVP), but it is important to note that many individuals with MVP are asymptomatic and may remain so throughout their lives. For those who do exhibit symptoms, the following are the key clinical features:Palpitations: This is a common symptom where individuals feel an irregular or rapid heartbeat. Palpitations in MVP are often due to arrhythmias such as premature ventricular contractions or supraventricular...
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Mitral Valve Prolapse III: Nursing Management01:19

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The nursing management of Mitral Valve Prolapse, or MVP, centers around patient education, symptom monitoring, and lifestyle modifications.Patient Education on MVP Diagnosis and Heredity: Nurses should provide comprehensive education about MVP, a condition where the mitral valve does not close appropriately during heartbeats. This education often includes the condition's pathophysiology, symptoms, and potential complications, like arrhythmias or mitral regurgitation. Though not fully...
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Mitral Regurgitation I: Introduction01:20

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Mitral regurgitation is characterized by the backward circulation of blood from the left ventricle to the left atrium during systole, a phase of the cardiac cycle when the heart contracts and pumps blood out of the chambers. This abnormal flow occurs primarily due to the dysfunction of the mitral valve or its supporting structures, which include the mitral leaflets, chordae tendineae, annulus, and papillary muscles.Etiology and Mechanisms:Primary Mitral Regurgitation: This type arises from...
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Mitral Stenosis I: Introduction01:22

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

Mitral Stenosis II: Clinical features and Diagnostic Tests

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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...
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Related Experiment Video

Updated: May 5, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Characterization of LTBP2 mutation causing mitral valve prolapse.

Shoshi Shpitzen1, Haim Rosen2, Ayal Ben-Zvi3

  • 1Department of Medicine, Cardiovascular Precision Medicine Center, Hadassah Hebrew University Medical Center, P.O. Box 12000, 9112001 Jerusalem, Israel.

European Heart Journal Open
|January 30, 2025
PubMed
Summary
This summary is machine-generated.

A novel mutation in the LTBP2 gene is linked to mitral valve prolapse (MVP). LTBP2 knockout mice exhibit a similar valve phenotype, confirming its role in this common heart condition.

Keywords:
LTBP2Mitral valve prolapseMyxomatous valve

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Area of Science:

  • Genetics
  • Cardiovascular Biology
  • Molecular Biology

Background:

  • Mitral valve prolapse (MVP) is a prevalent valvular heart disease with substantial morbidity and mortality.
  • A significant genetic component underlies MVP, necessitating the identification of causative mutations.

Purpose of the Study:

  • To identify a novel genetic mutation associated with MVP in a human family.
  • To characterize the cardiac and ocular phenotypes of LTBP2 knockout (KO) and knockin (KI) mouse models.

Main Methods:

  • Exome sequencing and segregation analysis were performed on a family with MVP.
  • LTBP2 KO and KI mouse models were generated and subjected to comprehensive phenotyping including echocardiography, histology, and gene expression analysis.
  • TGF-β signaling pathway targets were quantified in valve tissues.

Main Results:

  • A novel LTBP2 rs117800773 V1506M mutation segregated with MVP in the studied family.
  • LTBP2 KO and KI mice exhibited a significantly increased incidence of myxomatous valve changes compared to controls.
  • KO mice also displayed ocular abnormalities, including increased anterior chamber depth and reduced visual acuity, and altered TGF-β signaling.

Conclusions:

  • A novel LTBP2 mutation is linked to familial mitral valve prolapse.
  • LTBP2 deficiency in mice recapitulates the myxomatous valve phenotype and suggests a role in TGF-β signaling, offering a valuable model for MVP research.