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

Teratology
Christopher LoffredoI W Lurie

Abstract

Recent advances in clinical, pathological, and genetic aspects of atrioventricular septal defects (AVSD) have set the stage for epidemiologic investigations into possible risk factors. Previous analyses of the total case group of AVSD included complete and partial subtypes without analysis of the subsets. To address the question of possible morphogenetic heterogeneity of AVSD, the Baltimore-Washington Infant Study data on live-born cases and controls (1981-1989) was reanalyzed for potential environmental and genetic risk-factor associations in complete AVSD (n = 213), with separate comparisons to the atrial (n = 75) and the ventricular (n = 32) forms of partial AVSD. Complete and ventricular forms of AVSD had a similar proportion of isolated cases (12.2% and 15.6%, respectively, without associated extracardiac anomalies) and high rates of Down syndrome, whereas the atrial form of partial AVSD included 55% isolated cases. Trisomy 18 occurred in 22% of infants with the ventricular form, compared with <2% in the other AVSD groups. Analysis of potential risk factors revealed further distinctions. Complete AVSD as an isolated cardiac defect was strongly associated with maternal diabetes (odds ratio [OR] = 20.6; 95% confidence interv...Continue Reading

References

Jun 1, 1992·American Journal of Medical Genetics·R CarmiC Ferencz
Sep 1, 1989·Journal of the American College of Cardiology·C FerenczL W Perry
Jul 1, 1987·International Journal of Cardiology·A C Wenink, J Ottenkamp
Jan 1, 1986·American Journal of Diseases of Children·E B Clark
Jan 1, 1983·Statistics in Medicine·R L Schaefer
Jul 1, 1995·Circulation Research·L M Eisenberg, R R Markwald
May 24, 1994·Proceedings of the National Academy of Sciences of the United States of America·J R KorenbergC Disteche
Jan 31, 1997·American Journal of Medical Genetics·A E LinR I Kelley
Aug 1, 1997·Diabetic Medicine : a Journal of the British Diabetic Association·M G Gnanalingham, J J Manns
Aug 12, 1998·Teratology·D E Fixler, N Threlkeld
May 26, 1999·American Journal of Medical Genetics·M C DigilioB Dallapiccola
Nov 24, 1999·American Journal of Medical Genetics·C Schrander-Stumpel
Jan 5, 2000·Heart·R Hall

❮ Previous
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Citations

Jan 21, 2011·European Journal of Human Genetics : EJHG·Irene C JoziasseJeroen Bakkers
May 26, 2006·Orphanet Journal of Rare Diseases·Raffaele Calabrò, Giuseppe Limongelli
Feb 16, 2008·The American Journal of the Medical Sciences·D Y AksoyM Bayraktar
Feb 17, 2015·Cardiology in the Young·Jeannie VisootsakJessica Hunter
Jun 20, 2012·Differentiation; Research in Biological Diversity·Laura E BriggsAndy Wessels
Jul 21, 2004·American Journal of Medical Genetics. Part a·Mathias B Forrester, Ruth D Merz
Nov 16, 2004·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·J EspinozaR Romero
Aug 26, 2009·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·D PaladiniC Nappi
Apr 1, 2008·Annals of the New York Academy of Sciences·Jamie Bentham, Shoumo Bhattacharya
Oct 18, 2015·International Journal of Cardiology·Emmeline E CalkoenMonique R M Jongbloed
Sep 21, 2011·American Journal of Medical Genetics. Part a·Jeannie VisootsakStephanie L Sherman
Oct 16, 2012·Paediatric and Perinatal Epidemiology·A J AgopianLaura E Mitchell
Apr 5, 2013·Birth Defects Research. Part A, Clinical and Molecular Teratology·Attila VereczkeyAndrew E Czeizel
Feb 22, 2011·American Journal of Medical Genetics. Part a·Robert J HartmanUNKNOWN National Birth Defects Prevention Study
May 6, 2014·European Journal of Medical Genetics·Seema R Lalani, John W Belmont
Jul 30, 2014·Journal of Clinical Ultrasound : JCU·Hong WangFeng Zheng
Aug 10, 2004·Journal of Occupational and Environmental Medicine·Linda L MagnussonHelena Wennborg
Aug 21, 2012·American Journal of Medical Genetics. Part a·Sonali S PatelUNKNOWN National Birth Defects Prevention Study
Sep 3, 2003·Andrologia·A JungW-B Schill
Nov 17, 2017·G3 : Genes - Genomes - Genetics·Benjamin L Rambo-MartinMichael E Zwick
Jan 31, 2017·Journal of Cardiovascular Development and Disease·Tara BurnsAndy Wessels
May 5, 2018·Journal of Cardiovascular Development and Disease·Paolo VersacciBruno Marino
Dec 25, 2003·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Joseph A MadriEmese Pinter

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