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相关概念视频

Mitral Valve Prolapse I: Introduction01:27

Mitral Valve Prolapse I: Introduction

1.1K
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...
1.1K
Mitral Valve Prolapse II: Assessment and Management01:22

Mitral Valve Prolapse II: Assessment and Management

1.4K
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...
1.4K
Mitral Valve Prolapse III: Nursing Management01:19

Mitral Valve Prolapse III: Nursing Management

588
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...
588
Mitral Regurgitation I: Introduction01:20

Mitral Regurgitation I: Introduction

1.3K
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...
1.3K
Mitral Stenosis I: Introduction01:22

Mitral Stenosis I: Introduction

1.8K
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...
1.8K
Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

Mitral Stenosis II: Clinical features and Diagnostic Tests

564
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...
564

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相关实验视频

Updated: May 5, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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LTBP2突变的特征,导致额头门脱落.

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
概括

在LTBP2基因中发生的一种新型突变与 mitra 透症 (MVP) 有关. LTBP2淘汰赛小鼠表现出类似的门表型,证实了它在这种常见的心脏病中的作用.

关键词:
在 LTBP2 中.中心门的脱落是什么意思?体膜膜膜膜膜膜膜

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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相关实验视频

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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科学领域:

  • 遗传学 是一个遗传学.
  • 心血管生物学 心血管生物学
  • 分子生物学分子生物学

背景情况:

  • mitra 透 (MVP) 是一种流行的膜性心脏病,患病率和死亡率很高.
  • 一个重要的遗传成分是MVP的基础,需要识别致病突变.

研究的目的:

  • 在人类家庭中识别与MVP相关的新型遗传突变.
  • 描述LTBP2淘汰赛 (KO) 和淘汰赛 (KI) 鼠标模型的心脏和眼睛表型.

主要方法:

  • 在一个MVP家族中进行了exome测序和分离分析.
  • 产生了LTBP2 KO和KI小鼠模型,并接受了包括心声学,组织学和基因表达分析在内的全面表型.
  • 在膜组织中量化了TGF-β信号通路的目标.

主要成果:

  • 一个新的LTBP2 rs117800773 V1506M突变与MVP分离在研究的家族.
  • 与对照组相比,LTBP2 KO和KI小鼠表现出异构变化的发生率显著增加.
  • KO小鼠也表现出眼睛异常,包括增加前腔深度和视力敏度降低,以及改变TGF-β信号传递.

结论:

  • 一种新的LTBP2突变与家族性 mitra 门脱落有关.
  • 在小鼠中LTBP2缺陷重复了myxomatous的表型,并表明TGF-β信号传递中的作用,为MVP研究提供了有价值的模型.