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

@article{Madan2010LeftVN,
  title={Left ventricular non-compaction on MRI in a patient with 22q11.2 distal deletion.},
  author={Shobhit Madan and Suneeta Madan-Khetarpal and Sang Cheol Park and Urvashi Surti and Ariel L. Bailey and Juliann S McConnell and Sameh S. Tadros},
  journal={American journal of medical genetics. Part A},
  year={2010},
  volume={152A 5},
  pages={1295-9}
}
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… CONTINUE READING
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