Endocardial cushion defect: Further studies of 'isolated' versus 'syndromic' occurrence

R. Carmi, J. A. Boughman, C. Ferencz

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65 Scopus citations


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.

Original languageEnglish
Pages (from-to)569-575
Number of pages7
JournalAmerican Journal of Medical Genetics
Issue number3
StatePublished - 15 Jun 1992
Externally publishedYes


  • Down syndrome
  • Ivemark syndrome
  • atrioventricular canal
  • atrioventricular septal defect
  • congenital cardiovascular malformations

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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