Atrioventricular canal defect without Down syndrome: A heterogeneous malformation

Maria Cristina Digilio, Bruno Marino, Alessandra Toscano, Aldo Giannotti, Bruno Dallapiccola

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The atrioventricular canal defect (AVCD) is one of the congenital heart defects most frequently associated with extracardiac anomalies. The association of AVCD with Down syndrome and heterotaxy has been studied extensively. However, little information is available about the prevalence of genetic syndromes and additional cardiac malformations in patients with AVCD and visceroatrial situs solitus without Down syndrome. This paper reviews the genetic and cardiologic characteristics of patients with non-Down AVCD and situs solitus in the literature and our series of 203 consecutive patients. In our experience, 132 (65%) of the patients have nonsyndromic AVCD, while 71 (35%) have non-Down syndromic AVCD. Chromosomal imbalances were detected in 7 cases (3%), Mendelian syndromes or associations in 44 (22%), and extracardiac anomalies without an identifiable syndrome in 20 (10%). Deletion 8p is prevalent among those with chromosomal imbalances. Noonan, Ellis-van Creveld, oro-facio-digital, Smith-Lemli-Opitz syndromes and VACTERL cases are frequent among patients with recognizable or identifiable nonchromosomal conditions. Based on this analysis of the type of AVCD and prevalence of associated cardiac anomalies in the different groups of patients, we found that: 1) the complete form is prevalent in patients with chromosomal imbalances; 2) the complete form is more frequently associated with additional cardiac defects, mainly left side obstructive lesions; and 3) additional cardiac anomalies are prevalent in syndromic patients. In conclusion, AVCD is a congenital heart defect with great variability in the anatomic patterns and heterogeneity of causes also in the subset without Down syndrome and without heterotaxy. The peculiar anatomic subtypes of this cardiac defect are associated with specific genetic conditions.

Original languageEnglish
Pages (from-to)140-146
Number of pages7
JournalAmerican Journal of Medical Genetics
Issue number2
Publication statusPublished - 1999


  • Atrioventricular canal defect
  • Chromosome abnormality syndromes
  • Congenital heart defect
  • Endocardial cushion defect
  • Malformation syndromes

ASJC Scopus subject areas

  • Genetics(clinical)


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