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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 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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Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

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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...
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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 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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Sex-linked Disorders01:43

Sex-linked Disorders

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Related Experiment Video

Updated: Apr 5, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Mutations in DCHS1 cause mitral valve prolapse.

Ronen Durst1,2, Kimberly Sauls3, David S Peal4

  • 1Center for Human Genetic Research, Massachusetts General Hospital Research Institute and Department of Neurology, Harvard Medical School, 185 Cambridge Street, Boston, Massachusetts 02114 USA.

Nature
|August 11, 2015
PubMed
Summary
This summary is machine-generated.

Genetic mutations in the DCHS1 gene are linked to non-syndromic mitral valve prolapse (MVP). This discovery sheds light on the genetic causes of MVP and offers potential therapeutic targets for this common cardiac condition.

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Area of Science:

  • Genetics
  • Cardiology
  • Developmental Biology

Background:

  • Mitral valve prolapse (MVP) is a prevalent cardiac condition, often heritable, but its genetic basis remains unclear.
  • MVP is a leading cause of mitral regurgitation and subsequent mitral valve surgery.

Purpose of the Study:

  • To identify the genetic aetiology of non-syndromic mitral valve prolapse (MVP).

Main Methods:

  • Whole exome sequencing in a multigenerational family with MVP.
  • Functional studies in zebrafish, cell cultures, and mouse models.
  • Analysis of mitral valve interstitial cells (MVICs) from patients and mouse models.

Main Results:

  • A missense mutation in the DCHS1 gene was identified and segregated with MVP in the initial family.
  • Two additional families showed segregation of different deleterious DCHS1 mutations with MVP.
  • DCHS1 mutations were found to reduce protein stability and cause cardiac defects in zebrafish and mice, impacting mitral valve development and MVIC function.

Conclusions:

  • DCHS1 mutations are a significant cause of non-syndromic mitral valve prolapse.
  • Disruptions in DCHS1 affect mitral valve morphogenesis, MVIC migration, and cellular patterning.
  • Understanding DCHS1's role in MVP pathogenesis may lead to novel therapeutic strategies.