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Related Concept Videos

Mitral Stenosis I: Introduction01:22

Mitral Stenosis I: Introduction

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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

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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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 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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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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Imbalances in Cardiac Output01:26

Imbalances in Cardiac Output

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The heart's primary function is to pump blood throughout the body, maintaining a balance between blood sent out (cardiac output) and blood returning (venous return). If this balance is disrupted, it can result in congestive heart failure (CHF), a severe condition where the heart becomes an inefficient pump, leading to inadequate blood circulation.
CHF can occur due to the failure of either side of the heart. Left-side failure leads to pulmonary congestion—the right side continues to send...
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Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

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Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
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Related Experiment Video

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Murine Fetal Echocardiography
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Left ventricular non compaction and septal defects.

Fathia Mghaieth Zghal, Selim Boudiche, Manel Ben Halima

    La Tunisie Medicale
    |May 13, 2020
    PubMed
    Summary

    This study details a rare case of left ventricle non-compaction combined with atrial and ventricular septal defects in a young woman. Genetic analysis identified a likely sporadic E101K gene mutation.

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    Area of Science:

    • Cardiology
    • Genetics
    • Pediatric Cardiology

    Background:

    • Left ventricle non-compaction (LVNC) is a rare congenital cardiomyopathy.
    • Atrial and ventricular septal defects are common congenital heart anomalies.
    • The co-occurrence of LVNC with septal defects is infrequently reported.

    Observation:

    • A 23-year-old woman presented with a previously undescribed combination of cardiac anomalies.
    • The patient exhibited left ventricle non-compaction.
    • Associated findings included both atrial and ventricular septal defects.

    Findings:

    • The case represents a novel association of LVNC with atrial and ventricular septal defects.
    • Family genetic analysis suggested a sporadic E101K gene mutation.
    • This mutation's role in the observed cardiac defects requires further investigation.

    Implications:

    • This case expands the spectrum of known congenital heart defects associated with LVNC.
    • Understanding the genetic basis, including mutations like E101K, is crucial for diagnosis and genetic counseling.
    • Further research is needed to elucidate the pathogenic mechanisms linking this mutation to complex cardiac malformations.