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

Authors


  • How to Cite this Article: Madan S, Madan-Khetarpal S, Park SC, Surti U, Bailey AL, McConnell J, Tadros SS. 2010. Left ventricular non-compaction on MRI in a patient with 22q11.2 distal deletion. Am J Med Genet Part A 152A:1295–1299.

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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