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

Atrioventricular septal defects: possible etiologic differences between complete and partial defects.

C A Loffredo1, J Hirata, P D Wilson

  • 1Cancer Genetics and Epidemiology Program, Department of Oncology, Georgetown University School of Medicine, Washington, DC 20007, USA.

Teratology
|March 10, 2001
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

Distal 13q monosomy and neural tube defects.

Genetic counseling (Geneva, Switzerland)·2018
Same author

Time-to-Event Analysis of Polatuzumab Vedotin-Induced Peripheral Neuropathy to Assist in the Comparison of Clinical Dosing Regimens.

CPT: pharmacometrics & systems pharmacology·2017
Same author

Integrated Two-Analyte Population Pharmacokinetic Model for Antibody-Drug Conjugates in Patients: Implications for Reducing Pharmacokinetic Sampling.

CPT: pharmacometrics & systems pharmacology·2016
Same author

PM2.5 as a marker of exposure to tobacco smoke and other sources of particulate matter in Cairo, Egypt.

The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease·2016
Same author

CHOANAL ATRESIA AND HIRSCHSPRUNG'S DISEASE ARE "LEGITIMATE" TRAITS OF DISTAL TRISOMY 4q.

Genetic counseling (Geneva, Switzerland)·2016
Same author

CYCLOPIA AND OTHER DEFECTS IN A FETUS WITH UNIQUE CHROMOSOMAL REARRANGEMENT.

Genetic counseling (Geneva, Switzerland)·2015
Same journal

Statement of the Public Affairs Committee of the Teratology Society on the fetal alcohol syndrome.

Teratology·2002
Same journal

Quantification and localization of expression of the retinoic acid receptor-beta and -gamma mRNA isoforms during neurulation in mouse embryos with or without spina bifida.

Teratology·2002
Same journal

Timing of prenatal care initiation and risk of congenital malformations.

Teratology·2002
Same journal

A new rapid radiological procedure for routine teratological use in bone ossification assessment: a supplement for staining methods.

Teratology·2002
Same journal

Dose and litter allocations in the design of teratological studies for detecting hormesis.

Teratology·2002
Same journal

Effect of sera from women with systemic lupus erythematosus or antiphospholipid syndrome and recurrent abortions on human placental explants in culture.

Teratology·2002
See all related articles

Atrioventricular septal defects (AVSD) show distinct risk factors based on subtype. Maternal diabetes is a key risk factor for complete AVSD, while the atrial form is linked to family history and paternal radiation exposure.

Area of Science:

  • Cardiology
  • Pediatric Cardiology
  • Medical Genetics
  • Epidemiology

Background:

  • Recent advancements in understanding atrioventricular septal defects (AVSD) necessitate detailed epidemiologic studies.
  • Previous AVSD research often grouped complete and partial subtypes, limiting subtype-specific risk factor analysis.
  • Investigating morphogenetic heterogeneity is crucial for understanding AVSD etiology.

Purpose of the Study:

  • To reanalyze existing data to identify distinct environmental and genetic risk factors for different AVSD subtypes.
  • To compare risk factor associations in complete AVSD versus atrial and ventricular forms of partial AVSD.
  • To explore potential heterogeneity in the causes of AVSD.

Main Methods:

  • Reanalysis of the Baltimore-Washington Infant Study data (1981-1989) for live-born cases and controls.

Related Experiment Videos

  • Stratified analysis of risk factors for complete AVSD (n=213), atrial partial AVSD (n=75), and ventricular partial AVSD (n=32).
  • Comparison of isolated cases, Down syndrome cases, and cases with Trisomy 18 across AVSD subtypes.

    • Main Results:

    • Complete and ventricular AVSD showed similar rates of isolated cases and high prevalence of Down syndrome.
    • The atrial form of partial AVSD had a higher proportion of isolated cases (55%).
    • Maternal diabetes (OR=20.6) and antitussive use (OR=8.8) were associated with complete AVSD; family history and paternal radiation with atrial partial AVSD.
    • Trisomy 18 was significantly associated with the ventricular form (22%) but not other AVSD subtypes.

    Conclusions:

    • Complete AVSD and ventricular partial AVSD share similar risk profiles, with a subset potentially linked to Trisomy 18.
    • Maternal diabetes is identified as a significant, potentially preventable risk factor for complete AVSD.
    • Distinct risk factor profiles suggest different etiologies for AVSD subtypes.