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Mitral Stenosis II: Clinical features and Diagnostic Tests

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 Stenosis I: Introduction

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 Stenosis III: Medical Management

Mitral Stenosis III: Medical Management

Mitral stenosis, a condition marked by the narrowing of the mitral valve, necessitates an integrated approach for effective management. This approach includes preventative measures, medical therapy, and surgical interventions to reduce symptoms and prevent complications.PreventionPrevention of mitral stenosis primarily focuses on reducing the incidence of bacterial infections, particularly streptococcal infections, which can lead to rheumatic fever and subsequent valvular damage. Timely...

Mitral Regurgitation I: Introduction

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...

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Mitral Regurgitation II: Clinical Features and Diagnostic Tests

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...

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Updated: Jun 10, 2026

Cox-Maze IV Procedure Concomitant with Valvular Surgery In Situs Inversus Dextrocardia: A Single-Center Experience in China

Cox-Maze IV Procedure Concomitant with Valvular Surgery In Situs Inversus Dextrocardia: A Single-Center Experience in China

Published on: February 11, 2022

Muir-torre syndrome: a case report.

Heather J Higgins¹, Melissa Voutsalath, Jean M Holland

¹Oakwood Southshore Medical Center, Trenton, Michigan.

The Journal of Clinical and Aesthetic Dermatology

|August 24, 2010

Summary

Muir-Torre syndrome, a rare genetic disorder, links skin tumors like sebaceous adenomas with internal cancers. Germ-line mutations in DNA repair genes hMSH2 and hMLH1 are implicated.

Area of Science:

Genetics
Dermatology
Oncology

Background:

Muir-Torre syndrome is an autosomal dominant genodermatosis.
It is characterized by sebaceous neoplasms (adenoma, carcinoma, sebaceoma, keratoacanthoma) and visceral malignancies, primarily colorectal and genitourinary tumors.
Germ-line mutations in DNA mismatch repair genes, specifically hMSH2 and hMLH1, are associated with Muir-Torre syndrome.

Observation:

This report details a patient with Muir-Torre syndrome.
The patient presented with two sebaceous adenomas, multiple basal cell carcinomas, and frontal bossing.
Colon cancer was also diagnosed in this patient.

Findings:

The case highlights the clinical and histological features of Muir-Torre syndrome.
It reinforces the association between specific sebaceous skin tumors and internal malignancies.

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Last Updated: Jun 10, 2026

Cox-Maze IV Procedure Concomitant with Valvular Surgery In Situs Inversus Dextrocardia: A Single-Center Experience in China

Cox-Maze IV Procedure Concomitant with Valvular Surgery In Situs Inversus Dextrocardia: A Single-Center Experience in China

Published on: February 11, 2022

The findings underscore the importance of genetic investigations (hMSH2, hMLH1 mutations) in diagnosing this syndrome.

Implications:

Early diagnosis of Muir-Torre syndrome is crucial for managing associated risks of visceral malignancies.
This case emphasizes the need for comprehensive screening in patients with characteristic sebaceous neoplasms.
Understanding the molecular basis (hMSH2, hMLH1) aids in genetic counseling and risk assessment.