Absent Aortic Valve in DiGeorge Syndrome-Reference-Cited by-同舟云学术

Absent Aortic Valve in DiGeorge Syndrome

Published:2016-01 Issue:1 Volume:19 Page:61-63
ISSN:1093-5266
Container-title:Pediatric and Developmental Pathology
language:en
Short-container-title:Pediatr Dev Pathol

Author:

Bertsch Elizabeth C.¹,Minturn Lucy¹,Gotteiner Nina L.²,Ernst Linda M.¹

Affiliation:

1. Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA

2. Department of Pediatrics, Division of Cardiology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA Received March 31, 2015; accepted July 30, 2015; published online July 31, 2015.

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.

Publisher

SAGE Publications

Subject

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

Link

http://journals.sagepub.com/doi/pdf/10.2350/15-03-1616-CR.1

Reference14 articles.

1. Myths and Realities Relating to Development of the Arterial Valves

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3. Cardiovascular anomalies associated with chromosome 22q11.2 deletion

4. Absent aortic and pulmonary valves: Investigation of three fetal cases with cystic hygroma and review of the literature

5. Double Outlet Right Ventricle with Absent Aortic Valve

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1. Absent aortic valve associated with isolated right brachiocephalic artery; a rare case report;The Anatolian Journal of Cardiology;2020

2. DiGeorge syndrome chromosome region deletion and duplication: Prenatal genotype‐phenotype variability in fetal ultrasound and MRI;Prenatal Diagnosis;2019-11-07

3. Prenatal diagnosis of congenital absence of aortic valve associated with restrictive foramen ovale : Hemodynamic features and clinical outcome;Journal of Clinical Ultrasound;2018-10-14

4. Fetal severe aortic regurgitation due to absence of left coronary leaflet of aortic valve;Journal of Fetal Medicine;2018-01-17