Abstract
Waardenburg syndrome (WS) is a rare genetic disorder secondary to neural crest cell developmental abnormalities. It is predominantly described as an auditory-pigmentary syndrome with diverse patient presentation, typically involving congenital sensorineural hearing loss and pigmentation abnormalities of the skin, hair, and iris. Other developmental abnormalities that may be associated with this syndrome are Hirschsprung's disease and a myriad of cardiovascular congenital defects. We present a case of a young girl with WS who found to have a persistent left superior vena cava (PLSVC) draining into the coronary sinus. The prevalence of PLSVC is increased in patients with chromosomal and genetic abnormalities. However, we are the first to report its presence in association with WS while discussing the challenges that may arise during central venous catheter placement in patients with PLSVC.
Document Type
Article
Publication Date
11-15-2018
Digital Object Identifier (DOI)
https://doi.org/10.4103/jcis.JCIS_31_18
Repository Citation
Raissi, Driss; Christie, Alexander; and Applegate, Kimberly, "Waardenburg Syndrome and Left Persistent Superior Vena Cava" (2018). Radiology Faculty Publications. 19.
https://uknowledge.uky.edu/radiology_facpub/19
Included in
Cardiovascular System Commons, Cell and Developmental Biology Commons, Genetics Commons, Radiology Commons
Notes/Citation Information
Published in Journal of Clinical Imaging Science, v. 8, 44, p. 1-4.
© 2018 Journal of Clinical Imaging Science | Published by Wolters Kluwer - Medknow
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