Abstract

BACKGROUND
Agenesis of the internal carotid artery (ICA) is a rare congenital anomaly occurring in less than 0.01% of the population, often incidentally discovered in pediatric populations. We recognized a high incidence of additional congenital malformations in children with ICA agenesis.
OBJECTIVE
Our study reports nine cases of ICA agenesis and co-existent malformations and discusses implications of the association.
MATERIALS AND METHODS
We conducted a retrospective chart review of nine children evaluated at our institution with imaging findings of ICA agenesis.
RESULTS
Seven children (78%) had congenital aortic or cardiac anomalies including coarctation (4), hypoplastic left heart (1), tetralogy of Fallot (1), and muscular ventricular septal defect (VSD) (1). Four children were diagnosed with an inherited disorder: Alagille syndrome (1), PHACE syndrome (1), VACTERL association (1), and methylenetetrahydrofolate reductase (MTHFR) gene variant (1). Additional congenital anomalies are also described.
CONCLUSION
In the setting of ICA agenesis, we report a robust association with congenital aortic and cardiac anomalies, as well as a broad spectrum of additional anatomical abnormalities that can occur in the setting of known genetic syndromes or as isolated findings. Knowledge of the natural history of ICA agenesis and associated anomalies will guide optimal care for these children.

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Publisher Full Text

Authors

Fitzgerald RT, Zuccoli G

Institution

Department of Radiology, Division of Neuroradiology, University of Pittsburgh Medical Center, Presbyterian University Hospital, 200 Lothrop St., Room D-132, Pittsburgh, PA 15213, USA. fitzgeraldryant@gmail.com

Source

Pediatric radiology 42:11 2012 Nov pg 1333-8

MeSH

Abnormalities, Multiple
Adolescent
Aorta
Carotid Artery, Internal
Child
Child, Preschool
Female
Heart Defects, Congenital
Humans
Infant
Infant, Newborn
Magnetic Resonance Angiography
Male
Vascular Malformations

Pub Type(s)

Journal Article

Language

eng

PubMed ID

22847749