Related Experiment Video

Updated: Aug 15, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Hypertrophic cardiomyopathy in systemic sclerosis. A report of two cases

I Moyssakis1, D P Papadopoulos, G Anastasiadis

  • 1Department of Cardiology, Laiko Hospital, 6-8 Glykonos street, 106-75 Athens, Greece.

Clinical Rheumatology
|October 13, 2005
PubMed

Insights

Two patients with diffuse systemic sclerosis (SSc) showed signs of hypertrophic obstructive cardiomyopathy on echocardiograms. This suggests a potential link between SSc and hypertrophic cardiomyopathy, possibly related to the human lymphocyte antigen (HLA DR3) phenotype.

Area of Science:

  • Cardiology
  • Rheumatology
  • Immunology

Background:

  • Diffuse systemic sclerosis (SSc) is an autoimmune connective tissue disease.
  • Hypertrophic cardiomyopathy (HCM) is a cardiac condition characterized by abnormal heart muscle thickening.
  • The human lymphocyte antigen (HLA DR3) phenotype is prevalent in SSc patients.

Observation:

  • Two patients with diffuse SSc presented with echocardiographic findings.
  • These findings included asymmetric hypertrophy of the interventricular septum.
  • Signs of subaortic obstruction consistent with hypertrophic obstructive cardiomyopathy were observed.

Findings:

  • The echocardiograms indicated hypertrophic obstructive cardiomyopathy in both SSc patients.
  • Hypertrophic cardiomyopathy has a known association with the HLA DR3 phenotype.
  • This shared HLA phenotype suggests a potential etiological link between SSc and HCM.

Implications:

  • Further research is warranted to investigate the potential association between SSc and HCM.
  • Exploring the role of HLA DR3 in the pathogenesis of both conditions may offer new insights.
  • Understanding this potential link could inform diagnostic and therapeutic strategies for patients with SSc and cardiac involvement.

More Related Videos

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease04:44

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Published on: June 16, 2020

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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...
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

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...
Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...