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Related Concept Videos

Mitral Stenosis I: Introduction01:22

Mitral Stenosis I: Introduction

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...
Mitral Regurgitation I: Introduction01:20

Mitral Regurgitation I: Introduction

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

Mitral Stenosis II: Clinical features and Diagnostic Tests

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...
Mitral Regurgitation II: Clinical Features and Diagnostic Tests01:23

Mitral Regurgitation II: Clinical Features and Diagnostic Tests

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...
Mitral Valve Prolapse I: Introduction01:27

Mitral Valve Prolapse I: Introduction

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...
Cirrhosis I: Introduction01:23

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Cirrhosis is a chronic, irreversible liver disease characterized by the widespread replacement of healthy liver tissue with fibrotic scar tissue and the formation of regenerative nodules.Etiology of cirrhosisCirrhosis results from sustained liver injury that triggers progressive fibrosis and structural remodeling. The underlying causes are diverse, encompassing common and less frequent clinical conditions. Regardless of the origin, all causes lead to chronic inflammation, hepatocyte loss, and...

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Related Experiment Video

Updated: Jun 10, 2026

Transaxillary First Rib Resection for Treatment of the Thoracic Outlet Syndrome
06:57

Transaxillary First Rib Resection for Treatment of the Thoracic Outlet Syndrome

Published on: September 13, 2020

Muir-Torre syndrome.

Pedro Mercader1

  • 1Dermatology Service, Hospital General Universitario Morales Meseguer, Murcia, Spain. pedromercader@hotmail.com

Advances in Experimental Medicine and Biology
|August 7, 2010
PubMed
Summary
This summary is machine-generated.

Muir-Torre syndrome (MTS) is a rare genetic disorder characterized by skin tumors and internal cancers. This review covers its clinical features, genetic basis, and connection to Lynch syndrome.

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Last Updated: Jun 10, 2026

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Area of Science:

  • Oncology
  • Genetics
  • Dermatology

Background:

  • Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis.
  • It presents with unusual cutaneous sebaceous neoplasms and/or keratoacanthomas.
  • MTS is associated with low-grade visceral malignancies, potentially including colonic polyps.

Purpose of the Study:

  • To review the principal clinical findings in Muir-Torre syndrome.
  • To summarize the genetic basis of Muir-Torre syndrome.
  • To discuss the relationship between Muir-Torre syndrome and Lynch syndrome.

Main Methods:

  • Literature review of clinical and genetic studies on Muir-Torre syndrome.
  • Analysis of case reports and genetic databases.
  • Comparative review with Lynch syndrome literature.

Main Results:

  • MTS is characterized by a specific constellation of cutaneous and visceral neoplasms.
  • Germline mutations in DNA mismatch repair genes (e.g., MLH1, MSH2) are implicated in MTS.
  • MTS shares genetic links with Lynch syndrome, suggesting a common pathogenic pathway.

Conclusions:

  • Muir-Torre syndrome is a distinct genodermatosis with significant implications for cancer risk.
  • Genetic testing is crucial for diagnosis and management.
  • Understanding the link with Lynch syndrome aids in risk assessment and patient counseling.