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 Experiment Videos

[Hypertrophic cardiomyopathies].

Ph Charron1, M Komajda

  • 1Département de génétique, cytogénetique et embryologie, CHU La Pitié-Salpêtrière, 47, bd de l'Hôpital, 75013 Paris.

Archives Des Maladies Du Coeur Et Des Vaisseaux
|December 26, 2003
PubMed
Summary
This summary is machine-generated.

Hypertrophic cardiomyopathy (CMH), a heart muscle disease, is increasingly understood through genetic research. Identifying sarcomere protein gene mutations clarifies its causes and improves patient genetic counseling.

Related Experiment Videos

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Advances in Cell Signaling Pathways: A Comprehensive Review

Journal of Cellular Biology·2024
Same author

Novel Approaches to Tissue Engineering and Regenerative Medicine

Nature Methods·2023
Same author

Understanding Molecular Mechanisms in Disease Progression

Cell Reports·2023
Same author

Genomic Profiling Reveals New Biomarkers for Early Diagnosis

Nature Genetics·2023
Same author

CRISPR-Based Screening Identifies Key Regulators of Cell Growth

Cell Reports·2022
Same author

Structural Insights into Membrane Protein Function

Journal of Cellular Biology·2022

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology

Context:

  • Hypertrophic cardiomyopathy (CMH) is a primary cardiac condition characterized by left ventricular hypertrophy.
  • Sudden cardiac death, particularly during exertion, is a severe complication and can be the initial manifestation.

Purpose:

  • To elucidate the physiopathology of CMH through recent molecular genetics advances.
  • To re-evaluate the natural history and clinical spectrum of CMH using genetic data.

Summary:

  • CMH exhibits genetic heterogeneity, with mutations in genes encoding sarcomere proteins being common.
  • Functional studies indicate that these mutations lead to primary sarcomere dysfunction, followed by compensatory hypertrophy.

Impact:

  • Molecular insights enhance the relevance of genetic counseling for patients and families.
  • Genetic testing offers valuable diagnostic and prognostic information in specific CMH cases.