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 III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

593
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...
593
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

722
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...
722
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

689
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,...
689
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

694
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...
694
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

564
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...
564
Barrett Esophagus-I: Introduction01:21

Barrett Esophagus-I: Introduction

1.1K
Barrett's esophagus is a medical condition where the esophageal mucosa is significantly damaged by stomach acid or other digestive fluids, often due to long-term exposure associated with gastroesophageal reflux disease (GERD). In GERD, a weakened or abnormally relaxed lower esophageal sphincter allows stomach acid to flow persistently into the esophagus.
This constant acid exposure transforms the esophagus's pink mucosal lining (stratified squamous epithelium) into a type of lining more...
1.1K

You might also read

Related Articles

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

Sort by
Same author

[Advancing cardiovascular prevention : Evidence-based design of healthy and sustainable food environments].

Herz·2026
Same author

[Heart and climate].

Herz·2026
Same author

Peroxisomal catalase and plasmalogen biosynthesis protect from oxidative stress in Barth syndrome cardiomyopathy.

Basic research in cardiology·2026
Same author

[Noise and the heart].

Herz·2026
Same author

Mavacamten improves energy balance in a pre-clinical model of RASopathy-associated hypertrophic cardiomyopathy.

Pediatric research·2026
Same author

Alterations in Cardiac and Systemic Metabolism in Heart Failure.

Circulation. Heart failure·2026

Related Experiment Video

Updated: Mar 8, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

2.8K

Barth syndrome cardiomyopathy.

Jan Dudek1, Christoph Maack2

  • 1Department of Cellular Biochemistry, University Medical Center Göttingen, 37073 Göttingen, Germany.

Cardiovascular Research
|February 4, 2017
PubMed
Summary
This summary is machine-generated.

Barth syndrome (BTHS) is an inherited cardiomyopathy caused by tafazzin mutations, leading to cardiolipin deficiency. This mitochondrial dysfunction results in heart muscle problems and dilated cardiomyopathy.

More Related Videos

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

4.3K
Sarcomere Shortening of Pluripotent Stem Cell-Derived Cardiomyocytes using Fluorescent-Tagged Sarcomere Proteins.
08:37

Sarcomere Shortening of Pluripotent Stem Cell-Derived Cardiomyocytes using Fluorescent-Tagged Sarcomere Proteins.

Published on: March 3, 2021

5.0K

Related Experiment Videos

Last Updated: Mar 8, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

2.8K
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

4.3K
Sarcomere Shortening of Pluripotent Stem Cell-Derived Cardiomyocytes using Fluorescent-Tagged Sarcomere Proteins.
08:37

Sarcomere Shortening of Pluripotent Stem Cell-Derived Cardiomyocytes using Fluorescent-Tagged Sarcomere Proteins.

Published on: March 3, 2021

5.0K

Area of Science:

  • Biochemistry
  • Cardiology
  • Genetics

Background:

  • Barth syndrome (BTHS) is an inherited cardiomyopathy linked to tafazzin gene mutations.
  • Tafazzin is crucial for cardiolipin (CL) biosynthesis, a phospholipid vital for mitochondrial membranes.
  • CL interacts with key mitochondrial proteins, influencing respiration and morphology.

Purpose of the Study:

  • To investigate the consequences of cardiolipin deficiency in Barth syndrome.
  • To elucidate the mechanisms linking mitochondrial dysfunction to cardiac pathology in BTHS.

Main Methods:

  • Utilizing cellular and animal models of Barth syndrome.
  • Analyzing mitochondrial morphology, respiratory chain function, and reactive oxygen species generation.

Main Results:

  • BTHS leads to cardiolipin deficiency, altering mitochondrial morphology.
  • Structural changes in the respiratory chain and decreased respiration were observed.
  • Increased reactive oxygen species generation and sarcomere disorganization contribute to dilated cardiomyopathy.

Conclusions:

  • Cardiolipin deficiency in BTHS disrupts mitochondrial structure and function.
  • Mitochondrial dysfunction is a key driver of cardiac pathology in Barth syndrome.
  • Understanding these mechanisms aids in developing therapeutic strategies for BTHS.