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

Am J Med Genet A. 2010 May;152A(5):1295-9. doi: 10.1002/ajmg.a.33367.

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.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22 / genetics*
  • Facies
  • Heart Defects, Congenital / genetics*
  • Heart Ventricles / abnormalities*
  • Humans
  • Magnetic Resonance Imaging*
  • Male
  • Oligonucleotide Array Sequence Analysis
  • Young Adult