Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

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...
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...
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...
Chambers of the Heart01:16

Chambers of the Heart

The human heart is a complex organ made up of four chambers: the right and left atria and the right and left ventricles. These internal chambers are separated by partitions known as the interatrial and interventricular septa. The exterior of the heart features a groove known as the coronary sulcus that demarcates the atria from the ventricles, while the anterior and posterior interventricular sulci distinguish between the two ventricles.
Deoxygenated blood from the body is received in the right...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Tri-Parametric Assessment of α-Galactosidase A Activity, lysoGb3 and X-Inactivation Aids Genotype-Phenotype Categorization of Fabry Disease Female Patients.

Journal of inherited metabolic disease·2026
Same author

Intersaphenous veins in a population with a high prevalence of chronic venous insufficiency.

Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische Gesellschaft·2026
Same author

Current state of knowledge on the epidemiology, aetiology, diagnosis, and management of heart involvement in eosinophilia. A Clinical Consensus Statement of the ESC Working Group on Myocardial & Pericardial Diseases.

European journal of heart failure·2026
Same author

Long-term efficacy and safety of pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease: results from up to 5 years of the BRIGHT F51 phase III, open-label extension study.

Orphanet journal of rare diseases·2026
Same author

Genetic counselling implementation in dilated cardiomyopathy.

European heart journal·2026
Same author

Evaluation of the severity of right-to-left shunt in patent foramen ovale patients after systemic embolism (MEASURE-PFO study).

Kardiologia polska·2026

Related Experiment Video

Updated: Jun 29, 2026

Morphological and Functional Assessment of the Right Ventricle Using 3D Echocardiography
07:11

Morphological and Functional Assessment of the Right Ventricle Using 3D Echocardiography

Published on: October 28, 2020

Right ventricular involvement in Fabry disease.

Tomas Palecek1, Gabriela Dostalova, Petr Kuchynka

  • 1Second Medical Department, Clinical Department of Cardiology and Angiology, Charles University in Prague, First Faculty of Medicine, Prague, Czech Republic. tpalec@lf1.cuni.cz

Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography
|October 7, 2008
PubMed
Summary

Right ventricular hypertrophy is common in Fabry disease (FD), affecting 40% of patients. This structural change, characterized by impaired diastolic function, is linked to left ventricular hypertrophy and patient age.

More Related Videos

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

Assessment of Right Ventricular Structure and Function in Mouse Model of Pulmonary Artery Constriction by Transthoracic Echocardiography
10:33

Assessment of Right Ventricular Structure and Function in Mouse Model of Pulmonary Artery Constriction by Transthoracic Echocardiography

Published on: February 3, 2014

Related Experiment Videos

Last Updated: Jun 29, 2026

Morphological and Functional Assessment of the Right Ventricle Using 3D Echocardiography
07:11

Morphological and Functional Assessment of the Right Ventricle Using 3D Echocardiography

Published on: October 28, 2020

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

Assessment of Right Ventricular Structure and Function in Mouse Model of Pulmonary Artery Constriction by Transthoracic Echocardiography
10:33

Assessment of Right Ventricular Structure and Function in Mouse Model of Pulmonary Artery Constriction by Transthoracic Echocardiography

Published on: February 3, 2014

Area of Science:

  • Cardiology
  • Genetics
  • Medical Imaging

Background:

  • Fabry disease (FD) is a rare genetic disorder affecting multiple organs.
  • Cardiac involvement, particularly left ventricular hypertrophy (LVH), is a known complication of FD.
  • The structural and functional impact on the right ventricle (RV) in FD remains less understood.

Purpose of the Study:

  • To characterize the structural and functional alterations of the right ventricle (RV) in patients with Fabry disease.
  • To investigate the prevalence of right ventricular hypertrophy (RVH) and diastolic dysfunction in FD.
  • To explore correlations between RV changes, LVH, and patient demographics.

Main Methods:

  • A comprehensive echocardiographic assessment was conducted in 58 patients diagnosed with Fabry disease.
  • Evaluated parameters included RV dimensions, wall thickness, hypertrophy (RVH), and systolic/diastolic function.
  • Statistical analyses were performed to identify associations between RV parameters, LVH, and age.

Main Results:

  • Right ventricular hypertrophy (RVH) was observed in 40% of FD patients, with no significant gender disparity.
  • A strong association was found between RVH and left ventricular hypertrophy (LVH), with two-thirds of LVH patients also showing RVH.
  • RV diastolic dysfunction was present in 47% of assessed subjects and correlated with RVH.
  • RV systolic function was largely preserved, and RV dilatation was absent.
  • RV wall thickness significantly correlated with patient age and left ventricular mass index.

Conclusions:

  • Right ventricular hypertrophy (RVH) with normal chamber size and preserved systolic function but impaired diastolic function is a characteristic finding in Fabry disease.
  • The presence and severity of RVH in FD are associated with the extent of LVH and the patient's age.
  • Echocardiography is crucial for detecting and monitoring RV structural and functional changes in Fabry disease management.