title: Endocardial cushion defect: further studies of "isolated" versus "syndromic" occurrence.
abstract: 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 defect.
authors.affiliation: Clinical Genetics Unit, Soroka Medical Center, Ben Gurion University, Beer Sheva, Israel.
authors.forename: R
authors.initials: R
authors.lastname: Carmi
authors.forename: J A
authors.initials: JA
authors.lastname: Boughman
authors.forename: C
authors.initials: C
authors.lastname: Ferencz
mesh_terms: D016022:Case-Control Studies; D002869:Chromosome Aberrations; D004314:Down Syndrome / Q000150:complications*; D004694:Endocardial Cushion Defects / Q000453:epidemiology* / Q000235:genetics; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D013577:Syndrome