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Related Concept Videos

Mitral Regurgitation I: Introduction01:20

Mitral Regurgitation I: Introduction

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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 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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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 II: Clinical Features and Diagnostic Tests01:23

Mitral Regurgitation II: Clinical Features and Diagnostic Tests

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Mitral regurgitation (MR) is a valvular heart disorder in which the mitral valve fails to close tightly, allowing blood to leak backward into the heart. Understanding the clinical manifestations, assessment, diagnostic findings, and medical management of MR is crucial to effectively managing affected patients.Clinical Manifestations of Mitral RegurgitationMitral regurgitation can be acute or chronic, each presenting differently and requiring different approaches:1. Acute Mitral...
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Mitral Valve Prolapse I: Introduction01:27

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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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Portal Hypertension01:22

Portal Hypertension

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Portal hypertension is an increase in blood pressure within the portal venous system. Normally, this pressure is less than 5 mmHg. It is considered clinically significant when it rises above 10 mmHg. At this threshold, complications from altered blood flow and venous congestion emerge.EtiologyPortal hypertension arises from conditions that impede blood flow through the liver. The most common cause is cirrhosis, in which chronic liver injury leads to fibrotic scarring. This fibrosis narrows or...
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Updated: Apr 20, 2026

Transaxillary First Rib Resection for Treatment of the Thoracic Outlet Syndrome
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Muir-Torre syndrome.

Feriyl Bhaijee1, Alexandra S Brown

  • 1From the Department of Pathology, University of Mississippi Medical Center, Jackson.

Archives of Pathology & Laboratory Medicine
|November 27, 2014
PubMed
Summary
This summary is machine-generated.

Muir-Torre syndrome (MTS) is a rare genetic disorder causing skin tumors and internal cancers. Early detection by pathologists aids in managing this Lynch syndrome subtype, reducing patient mortality.

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Area of Science:

  • Genetics
  • Dermatology
  • Oncology

Background:

  • Muir-Torre syndrome (MTS) is a rare autosomal-dominant genodermatosis.
  • It is characterized by sebaceous neoplasms and visceral malignancies, primarily in the colorectum and endometrium.
  • MTS is a phenotypic subtype of Lynch syndrome, linked to DNA mismatch repair gene mutations (hMSH2, hMLH1).

Purpose of the Study:

  • To describe the clinicopathologic features of Muir-Torre syndrome.
  • To highlight the role of pathologists in early detection and diagnosis.
  • To emphasize the importance of identifying at-risk individuals for screening and surveillance.

Main Methods:

  • Clinicopathologic analysis of Muir-Torre syndrome cases.
  • Review of literature on sebaceous neoplasms and visceral malignancies associated with MTS.
  • Correlation of MTS with genetic defects in DNA mismatch repair genes.

Main Results:

  • MTS presents with sebaceous adenomas/carcinomas and visceral malignancies.
  • A subset of MTS patients have germline mutations in hMSH2 or hMLH1.
  • Microsatellite instability is a feature due to DNA mismatch repair defects.

Conclusions:

  • Pathologists play a crucial role in the early diagnosis of MTS.
  • Identification of MTS facilitates screening for visceral malignancies, reducing morbidity and mortality.
  • Understanding MTS as a Lynch syndrome subtype improves patient management and outcomes.