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

Endocardial fibroelastosis: possible X linked inheritance.

S Hodgson, A Child, M Dyson

    Journal of Medical Genetics
    |April 1, 1987
    PubMed
    Summary
    This summary is machine-generated.

    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

    Health system sustainability and resilience: a preliminary provision of measurement through a "mash-up" index.

    Health economics, policy, and law·2025
    Same author

    Improving forecasts of imperfect models using piecewise stochastic processes.

    Chaos (Woodbury, N.Y.)·2025
    Same author

    Does Trans-radial Longitudinal Compression Influence Myoelectric Control?

    Canadian prosthetics & orthotics journal·2023
    Same author

    Gastrointestinal Symptoms in Marfan Syndrome and Hypermobile Ehlers-Danlos Syndrome.

    Gastroenterology research and practice·2018
    Same author

    Antimicrobial Activity in the Microbial Community of the Accessory Nidamental Gland and Egg Cases of Loligo pealei (Cephalopoda: Loliginidae).

    The Biological bulletin·2017
    Same author

    Prophenoloxidase Is Not Activated by Microbial Signals in Limulus polyphemus.

    The Biological bulletin·2017
    Same journal

    Longest surviving patient with a homozygous splice-altering <i>EGFR</i> pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.

    Journal of medical genetics·2026
    Same journal

    Functional characterisation and pathological significance of variants of <i>MEF2C</i> promoter in tetralogy of Fallot.

    Journal of medical genetics·2026
    Same journal

    Identification of biallelic loss-of-function <i>PREP</i> variants in three individuals with syndromic intellectual disability.

    Journal of medical genetics·2026
    Same journal

    Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry.

    Journal of medical genetics·2026
    Same journal

    Interpreting <i>TP53</i> variants: somatic mosaicism and <i>ERCC6L2</i>-driven clonal evolution.

    Journal of medical genetics·2026
    Same journal

    Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome.

    Journal of medical genetics·2026
    See all related articles

    This study identifies a potential X-linked recessive cardiomyopathy in infants, characterized by cardiac failure and mitochondrial abnormalities. The findings suggest a genetic link affecting males through healthy female carriers.

    Area of Science:

    • Genetics
    • Cardiology
    • Mitochondrial Diseases

    Background:

    • X-linked recessive inheritance patterns observed in a pedigree with infant cardiac failure.
    • Absence of anatomical cardiac defects in affected males.
    • Family history linked through healthy females, with no consanguinity.

    Purpose of the Study:

    • To investigate the genetic basis of a fatal cardiac condition in infants.
    • To explore the potential link between cardiac abnormalities and mitochondrial dysfunction.
    • To identify potential X-linked inheritance patterns in affected families.

    Main Methods:

    • Pedigree analysis to determine inheritance patterns.
    • Histological examination of cardiac tissue from affected individuals.

    Related Experiment Videos

  • Electron microscopy to assess mitochondrial structure.
  • Literature review of similar reported pedigrees.

    • Main Results:

    • Six males died from cardiac failure within eight months of life, exhibiting X-linked recessive inheritance.
    • Histological and electron microscopy revealed endomyocardial fibroelastosis and mitochondrial abnormalities, suggestive of mitochondrial cytopathy.
    • Review identified five similar X-linked pedigrees, with mitochondrial abnormalities noted in two.

    Conclusions:

    • The findings suggest a novel X-linked recessive cardiomyopathy associated with mitochondrial abnormalities.
    • This condition primarily affects males and is transmitted via healthy female carriers.
    • Further research is warranted to elucidate the specific genetic mutations and pathogenic mechanisms involved.