Absent Aortic Valve in DiGeorge Syndrome

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Elizabeth C BertschLinda M Ernst


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.


Sep 1, 1975·Chest·W H ToewsL L Kelminson
Oct 1, 1990·Pediatric Cardiology·A E Lin, A J Chin
May 1, 1989·International Journal of Cardiology·R G WeintraubR M Gow
Oct 1, 1985·The Australian Journal of Experimental Biology and Medical Science·J M LangmanB Vernon-Roberts
Mar 1, 1984·Journal of the American College of Cardiology·F Z BiermanH Fox
Oct 26, 2002·Pediatric Cardiology·T KrasemannB Asfour
May 30, 2006·International Journal of Cardiology·Kazuo Momma
Jul 11, 2006·International Journal of Cardiology·In-Sook ParkSoo-Jin Kim
Oct 10, 2007·Orphanet Journal of Rare Diseases·Roxane McKay
Apr 2, 2011·Pediatric Cardiology·Jun MuneuchiKunitaka Joo

Related Concepts

Biologic Segmentation
Cardiovascular Abnormalities
Entire Fetus
Entire Aortic Valve
Genetic Screening Method
Gene Deletion Abnormality
Shprintzen Syndrome
Gestational Age
Conotruncal Heart Malformations (Disorder)

Related Feeds

22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused as a result of a partial deletion of chromosome 22. Here is the latest research.

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

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