Congenital heart defects in patients with DiGeorge/velocardiofacial syndrome and del22q11

B. Marino, M. C. Digilio, A. Toscano, A. Giannotti, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review


Congenital heart defects (CHDs) are found in 75% of patients with DiGeorge/velocardiofacial (DG/VCF) syndromes with deletion 22q11.2 (del22q11). The purpose of this study was to analyse clinical features and, particularly, types and subtypes of CHDs associated with del22q11 in our series of patients and in those reported in other studies. All patients with CHD and del22q11 present major or minor clinical features of DG/VCF syndrome. Many children, particularly in the neonatal age, have only a subtle phenotype, so that accurate phenotypical evaluation is mandatory for selecting patients with CHD at risk for del22q11. Conotruncal cardiac defects are the most common CHDs in patients with DG/VCF syndrome, but other defects can also occur. Peculiar anatomical subtypes are found in patients with del22q11. They are frequently complex, consisting in malalignment with deficiency of the infundibular septum and anomalies of the aortic arch and pulmonary arteries.

Original languageEnglish
Pages (from-to)25-33
Number of pages9
JournalGenetic Counseling
Issue number1
Publication statusPublished - 1999


  • Congenital heart defect
  • Deletion 22q11.2
  • DiGeorge syndrome
  • Velocardiofacial syndrome

ASJC Scopus subject areas

  • Genetics(clinical)


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