Absent aortic valve in DiGeorge syndrome

Elizabeth C. Bertsch, Lucy Minturn, Nina L. Gotteiner, Linda M. Ernst*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

A 20-week-old fetus with the 22q11.2 deletion characteristic of DiGeorge syndrome is described with vertebral segmentation abnormalities and complex cardiovascular anomalies including an absent aortic valve. This is only the second known case of absent aortic valve in association with DiGeorge syndrome. We discuss the association of absent aortic valve with other conotruncal defects and the utility of fetal echocardiography in the diagnosis of DiGeorge syndrome.

Original languageEnglish (US)
Pages (from-to)61-63
Number of pages3
JournalPediatric and Developmental Pathology
Volume19
Issue number1
DOIs
StatePublished - Jan 1 2016

Keywords

  • 22q deletion syndrome
  • Absent aortic valve
  • Aortic valve anomalies
  • DiGeorge syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

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