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

Cardiovascular molecular genetics

P A Anderson1

  • 1Duke University Medical Center, Durham, North Carolina.

Current Opinion in Cardiology
|January 1, 1994
PubMed
Summary
This summary is machine-generated.

Genetic mutations cause heritable heart and vascular disorders like hypertrophic cardiomyopathy and Marfan syndrome. Understanding these genetic links aids in diagnosing and managing cardiovascular diseases.

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

Effect of degeneration on bone mineral density, trabecular bone score and CT Hounsfield unit measurements in a spine surgery patient population.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·2022
Same author

Opportunistic Use of Lumbar Magnetic Resonance Imaging for Osteoporosis Screening.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·2021
Same author

Raman spectroscopy insights into the α- and δ-phases of formamidinium lead iodide (FAPbI<sub>3</sub>).

Dalton transactions (Cambridge, England : 2003)·2021
Same author

The Building Blocks of Battery Technology: Using Modified Tower Block Game Sets to Explain and Aid the Understanding of Rechargeable Li-Ion Batteries.

Journal of chemical education·2020
Same author

DXA Measured Distal Femur Bone Mineral Density in Patients After Total Knee Arthroplasty: Method Development and Reproducibility.

Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry·2018
Same author

The American Orthopaedic Association's Own the Bone® database: a national quality improvement project for the treatment of bone health in fragility fracture patients.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·2018
Same journal

Rebooting blood vessel repair: implications of the SEMA-VR CardioLink-15 trial.

Current opinion in cardiology·2026
Same journal

Advancements in wearable technology for heart failure patients.

Current opinion in cardiology·2026
Same journal

Minimally invasive approaches to coronary artery bypass grafting: techniques, current evidence, and future directions.

Current opinion in cardiology·2026
Same journal

Advances in artificial intelligence for the evaluation of mitral regurgitation.

Current opinion in cardiology·2026
Same journal

Role of nutritional interventions to reduce cardiometabolic disease burden in the community.

Current opinion in cardiology·2026
Same journal

Artificial intelligence for right ventricular assessment: current evidence and future directions.

Current opinion in cardiology·2026
See all related articles

Area of Science:

  • Cardiovascular Genetics
  • Developmental Biology
  • Medical Genetics

Background:

  • Heritable disorders of the heart and vasculature represent a significant health burden.
  • Advances in genetic research have identified specific gene mutations linked to various cardiovascular conditions.
  • Understanding the genetic underpinnings is crucial for diagnosis, prognosis, and therapeutic strategies.

Purpose of the Study:

  • To review current knowledge on the genetic basis of key heritable heart and vascular disorders.
  • To discuss the functional effects and prognostic value of specific gene mutations.
  • To explore the relationship between genetic defects, developmental processes, and disease phenotypes.

Main Methods:

  • Review of existing literature on genetic mutations and cardiovascular diseases.

Related Experiment Videos

  • Analysis of studies investigating gene-disease associations (e.g., beta myosin heavy chain, fibrillin, elastin, 22q11 microdeletions).
  • Consideration of animal models (e.g., TGF-beta 1 null mice) and developmental pathways (e.g., neural crest cell migration).

    • Main Results:

    • Specific genes (e.g., MYH7, FBN1, ELN) are associated with hypertrophic cardiomyopathy, Marfan syndrome, and supravalvular aortic stenosis.
    • 22q11 microdeletions are implicated in DiGeorge syndrome, velocardiofacial syndrome, and conotruncal malformations.
    • Neural crest cell migration defects and transforming growth factor beta signaling pathways are relevant to cardiac development and malformations.

    Conclusions:

    • Genetic factors play a critical role in the etiology of diverse heritable cardiovascular and vascular disorders.
    • Identifying specific mutations provides insights into disease mechanisms and potential therapeutic targets.
    • Further research into developmental pathways and gene interactions is essential for advancing cardiovascular medicine.