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Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

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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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The development of the human heart, a crucial organ, commences from the mesoderm on the 18th or 19th day after fertilization. This process initiates in the cardiogenic area, a group of mesodermal cells at the embryo's head end, which evolves into elongated strands known as cardiogenic cords. These cords undergo a transformation to form hollow-centered endocardial tubes.
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Pulmonary Hypertension: Classification and Pathogenesis01:30

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Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
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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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Related Experiment Video

Updated: Dec 22, 2025

Author Spotlight: Effect of Left Atrial Ligation on Avian Embryonic Hearts and HLHS Implications
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Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.

Jonathan J Edwards1, Andrew D Rouillard2, Nicolas F Fernandez2

  • 1Department of Pediatrics, Division of Pediatric Cardiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

JACC. Basic to Translational Science
|May 6, 2020
PubMed
Summary
This summary is machine-generated.

Researchers identified novel genes linked to congenital heart disease (CHD) by analyzing genetic variants. This study highlights the WAVE2 complex and small GTPase signaling in cardiac development, offering new insights into CHD pathogenesis.

Keywords:
CHD, congenital heart diseaseCORUM, Comprehensive Resource of Mammalian Protein ComplexesCRISPR, clustered regularly interspaced short palindromic repeatsCTD, conotruncal defectGOBP, Gene Ontology biological processesHHE, high heart expressionHLHS, hypoplastic left heart syndromeHTX, heterotaxyLVOTO, left ventricular outflow tract obstructionMGI, Mouse Genome InformaticsPCGC, Pediatric Cardiac Genomics ConsortiumPPI, protein-protein interactioncongenital heart diseasesystems biologytranslational genomics

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Area of Science:

  • Genetics
  • Developmental Biology
  • Cardiology

Background:

  • Genetic variants are the primary cause of congenital heart disease (CHD).
  • Identifying specific causative genetic variants in CHD remains a significant challenge.
  • Sporadic severe CHD presents a complex genetic etiology.

Purpose of the Study:

  • To identify novel causal genes associated with specific molecular functions in congenital heart disease.
  • To investigate the genetic underpinnings of left ventricular outflow tract obstruction lesions.
  • To explore the role of the WAVE2 complex and small GTPase signaling in cardiac development.

Main Methods:

  • Filtering de novo variants from 2,881 sporadic severe CHD probands using prior biological knowledge.
  • Association analysis to link genetic variants with specific CHD phenotypes.
  • CRISPR-Cas9 gene editing in zebrafish models to functionally validate candidate genes.

Main Results:

  • Identified an association between left ventricular outflow tract obstruction and genes involved in the WAVE2 complex and small GTPase signaling.
  • Confirmed the critical role of WAVE2 complex proteins (brk1, nckap1, wasf2) in cardiac development through zebrafish knockdowns.
  • Validated the importance of small GTPase regulators (cul3a, racgap1) in cardiac development using CRISPR zebrafish models.

Conclusions:

  • The WAVE2 complex and small GTPase signaling pathways are crucial for normal cardiac development.
  • Genetic variants affecting these pathways may contribute to congenital heart disease, particularly outflow tract obstruction.
  • This study provides a framework for identifying novel CHD-associated genes and understanding their functional significance.