Interrupted aortic arch type A with 22q11 deletion: prenatal detection of an unusual association

Interrupted aortic arch is a rare, severe congenital heart defect subdivided into three types, A, B and C, according to the site of interruption. Type C is by far the least common form of interrupted aortic arch (less than 5% of cases), type A is commonly an isolated defect whereas type B is frequen...

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Bibliographic Details
Published in:Prenatal diagnosis 2002-05, Vol.22 (5), p.371-374
Main Authors: Volpe, P., Gentile, M., Marasini, M.
Format: Article
Language:English
Subjects:
22q11 microdeletion
Adult
Aorta, Thoracic - abnormalities
Biological and medical sciences
Cardiology. Vascular system
Chromosome Deletion
Chromosomes, Human, Pair 22
Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava
Echocardiography
Female
Gestational Age
Gynecology. Andrology. Obstetrics
Heart
Heart Defects, Congenital - diagnostic imaging
Heart Defects, Congenital - surgery
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
interrupted aortic arch
Management. Prenatal diagnosis
Medical sciences
Pregnancy
Pregnancy. Fetus. Placenta
Treatment Outcome
Ultrasonography, Prenatal
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Summary:Interrupted aortic arch is a rare, severe congenital heart defect subdivided into three types, A, B and C, according to the site of interruption. Type C is by far the least common form of interrupted aortic arch (less than 5% of cases), type A is commonly an isolated defect whereas type B is frequently associated with 22q11 deletion. Differentiation of interrupted aortic arch type A from type B by prenatal echocardiography is possible but difficult; it needs to be done on the basis of observation of reliable morphological indicators which point to the correct diagnosis. Here we report the first case of prenatal diagnosis of interrupted aortic arch type A associated with 22q11 deletion. The significance of this association is not yet clear, since 22q11 genes mainly affect embryonic cardiovascular morphogenesis of those regions whose development is critically dependent on neural crest cell migration and function, affected in type B defect but not in type A. Copyright © 2002 John Wiley & Sons, Ltd.
ISSN:0197-3851
1097-0223
DOI:10.1002/pd.320