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J Clin Imaging Sci. 2018 Nov 15;8:44. doi: 10.4103/jcis.JCIS_31_18. eCollection 2018.

Waardenburg Syndrome and Left Persistent Superior Vena Cava.

Author information

1
Department of Radiology, University of Kentucky, Kentucky, USA.

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.

KEYWORDS:

Central venous anomalies; Hirschsprung's disease; Waardenburg syndrome; duplicated superior vena cava; left superior vena cava

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