Endocardial cushion defect: further studies of "isolated" versus "syndromic" occurrence

American Journal of Medical Genetics
R CarmiC Ferencz


The isolated occurrence of endocardial cushion defect (ECD) has been suggested to differ from its occurrence within the context of a syndrome, with regard to the nature (complete or partial) of the defect and the associated cardiovascular malformations. Analysis of data derived from the Baltimore-Washington Infant Study of congenital cardiovascular malformations supports the observation that "syndromic" ECD tends to be of the complete atrioventricular canal type and is less frequently associated with left cardiac anomalies than the isolated form. However, each syndrome has a unique impact on the overall cardiovascular "phenotype", including the ECD. This is especially true for Down and Ivemark syndromes, which are most frequently associated with ECD, but also for other syndromes as well. It is also suggested that isolated ECD is specifically associated with gastrointestinal and urinary tract anomalies. However, in Down syndrome ECD appears to be a specific cardiovascular expression of the trisomic state that is unrelated to other noncardiac malformations. Additional information on the association of ECD with other less common genetic syndromes is needed in order to further investigate the possible genetic basis of this cardiac ...Continue Reading

Associated Clinical Trials


Jan 1, 1977·Southern Medical Journal·R D GreenwoodA Rosenthal
Jul 1, 1990·Pediatric Cardiology·S M BalderstonH M Sondheimer
Mar 1, 1989·American Journal of Diseases of Children·D S SchneiderC A Neill
Jun 1, 1989·Journal of the American College of Cardiology·S Van PraaghR Van Praagh
Jul 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·M BruecknerA L Horwich
Sep 1, 1985·Acta paediatrica Scandinavica·B Beck, K Fenger
Apr 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·T C WrightD M Kurnit
Nov 1, 1961·The American Journal of Medicine·R D ROWE, I A UCHIDA

❮ Previous
Next ❯


Dec 12, 2012·Apoptosis : an International Journal on Programmed Cell Death·Noemí RuedaCarmen Martínez-Cué
Nov 17, 2010·World Journal of Pediatrics : WJP·Ying GuoKun Sun
May 1, 1996·Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology·P FrancalanciC Bosman
Nov 5, 1999·Obstetrics and Gynecology·M F DelisleD F Farquharson
Jan 9, 2001·Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology·B Marino, M C Digilio
Sep 28, 2005·Annals of Plastic Surgery·S Y ParasharD J David
Jan 1, 1994·British Heart Journal·A KumarB E Victorica
Sep 1, 1994·British Heart Journal·M C DigilioB Dallapiccola
May 26, 2006·Orphanet Journal of Rare Diseases·Raffaele Calabrò, Giuseppe Limongelli
Jan 27, 2007·Journal of Cardiovascular Medicine·Gerardo PiacentiniBruno Marino
Jul 6, 2014·Annals of Pediatric Cardiology·Alexander EgbeShubhika Srivastava
Aug 15, 2015·American Journal of Medical Genetics. Part a·Rebecca C Ahrens-NicklasPaige B Kaplan
Jun 20, 2012·Differentiation; Research in Biological Diversity·Laura E BriggsAndy Wessels
May 1, 2012·Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography·Sonali S PatelTrudy L Burns
May 16, 2014·Pediatric Cardiology·Alexander EgbeShubhika Srivastava
Feb 22, 2011·American Journal of Medical Genetics. Part a·Robert J HartmanUNKNOWN National Birth Defects Prevention Study
Mar 1, 1996·The American Journal of Cardiology·B MarinoB Dallapiccola
Jul 28, 2004·The Annals of Thoracic Surgery·Roberto FormigariBruno Marino
Jan 1, 1993·Biomedicine & Pharmacotherapy = Biomédecine & Pharmacothérapie·B Marino
Mar 26, 1999·American Journal of Human Genetics·K DevriendtJ R Vermeesch
Oct 28, 2015·Texas Heart Institute Journal·Guruprasad MahadevaiahRavi Ashwath
Oct 28, 1998·American Journal of Obstetrics and Gynecology·C J Saphier, J Yeh
Oct 28, 1997·American Journal of Medical Genetics·I ClaeysK Devriendt
Nov 13, 2003·The Anatomical Record. Part A, Discoveries in Molecular, Cellular, and Evolutionary Biology·Adriana C Gittenberger-de GrootScott E Klewer
Nov 7, 1998·American Journal of Medical Genetics·M C DigilioB Dallapiccola
Sep 29, 2015·Korean Circulation Journal·Jung Min Ko
Jul 31, 1995·American Journal of Medical Genetics·M C DigilioB Dallapiccola
Oct 9, 2009·ASAIO Journal : a Peer-reviewed Journal of the American Society for Artificial Internal Organs·Sandra L MerklingerGlen S Van Arsdell
Apr 5, 2013·Birth Defects Research. Part A, Clinical and Molecular Teratology·Attila VereczkeyAndrew E Czeizel
Nov 8, 2020·Journal of Cardiovascular Development and Disease·Ray DeepeAndy Wessels

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cardiac Conduction System

The cardiac conduction system is a specialized tract of myocardial cells responsible for maintaining normal cardiac rhythm. Discover the latest research on the cardiac conduction system here.

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.