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.

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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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