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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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The human heart is a complex organ with an intricate system of valves that regulate blood flow. There are two main types of valves: atrioventricular (AV) valves and semilunar valves.
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Lumber defects, which can affect both the appearance and structural integrity of wood, include a variety of growth and manufacturing flaws. Growth defects such as knots and knotholes occur where branches were once attached to the tree trunk, with knotholes forming when these knots fall out. Other natural defects include decay and insect damage, which compromise the wood's strength and durability.
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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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Using Primary Neurosphere Cultures to Study Primary Cilia
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Primary cilia defects causing mitral valve prolapse.

Katelynn A Toomer1, Mengyao Yu2,3, Diana Fulmer1

  • 1Cardiovascular Developmental Biology Center, Department of Regenerative Medicine and Cell Biology, College of Medicine, Children's Research Institute, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425, USA.

Science Translational Medicine
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Summary
This summary is machine-generated.

Defects in primary cilia genes cause mitral valve prolapse (MVP), a common heart condition. This study reveals primary cilia

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Area of Science:

  • Cardiovascular Biology
  • Developmental Biology
  • Genetics

Background:

  • Mitral valve prolapse (MVP) affects 1 in 40 individuals and is a leading cause of mitral valve surgery.
  • The underlying causes of MVP, which can lead to arrhythmias, heart failure, and sudden cardiac death, remain poorly understood.
  • Primary cilia are crucial cellular organelles whose role in MVP pathogenesis has not been previously established.

Purpose of the Study:

  • To investigate the role of primary cilia genes and their associated pathways in the etiology of familial and sporadic nonsyndromic mitral valve prolapse.
  • To elucidate the developmental mechanisms by which primary cilia influence mitral valve structure and function.

Main Methods:

  • Expression studies and genetic ablation experiments in model systems to assess primary cilia function during cardiac development.
  • Analysis of a large family with inherited MVP to identify causative genetic mutations.
  • Generation and characterization of a mouse model harboring a specific cilia gene mutation.
  • Pathway enrichment analysis of genome-wide association study (GWAS) data from MVP patients and controls.

Main Results:

  • Primary cilia are essential for regulating extracellular matrix (ECM) deposition during cardiac development.
  • Loss of primary cilia function leads to progressive myxomatous degeneration and severe mitral valve pathology in adult models.
  • A mutation in the cilia gene DZIP1 was identified in a family with inherited MVP, and a mouse model confirmed its pathogenicity and association with myxomatous valve disease.
  • GWAS data analysis confirmed the significant involvement of primary cilia genes in common forms of MVP.

Conclusions:

  • Primary cilia play a critical role in the developmental regulation of the mitral valve through cilia-dependent ECM control.
  • Defects in primary cilia genes represent a novel causative factor for mitral valve prolapse in both familial and sporadic cases.
  • This research establishes a new developmental etiology for MVP, highlighting primary cilia as potential therapeutic targets.