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Left ventricular non-compaction on MRI in a patient with 22q11.2 distal deletion

✍ Scribed by Shobhit Madan; Suneeta Madan-Khetarpal; Sang C. Park; Urvashi Surti; Ariel L. Bailey; Juliann McConnell; Sameh S. Tadros

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
201 KB
Volume
152A
Category
Article
ISSN
1552-4825

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✦ Synopsis

Abstract

We report on a 22‐year‐old male carrying a presumptive clinical diagnosis of Dubowitz‐like phenotype who has been followed‐up by cardiology for bicuspid aortic valve with ascending aorta and aortic root dilatation. Cardiac magnetic resonance imaging (CMRI) confirmed these findings, along with an incidental finding of left ventricular non‐compaction (LVNC). Genetic workup revealed the diagnosis of 22q11.2 distal deletion encompassing the BCR gene. This is the first time LVNC has been reported in a patient with 22q11.2 distal deletion. © 2010 Wiley‐Liss, Inc.

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