Left ventricular non compaction with aortic valve anomalies: A recurrent feature of 22q11.2 distal deletion syndrome

Eur J Med Genet. 2015 Aug;58(8):406-8. doi: 10.1016/j.ejmg.2015.05.005. Epub 2015 Jul 2.
No abstract available

Publication types

  • Letter
  • Review

MeSH terms

  • Aortic Valve / abnormalities*
  • Aortic Valve / metabolism
  • DiGeorge Syndrome / diagnosis
  • DiGeorge Syndrome / genetics*
  • DiGeorge Syndrome / pathology
  • Haploinsufficiency
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / pathology
  • Heart Ventricles / abnormalities*
  • Heart Ventricles / metabolism
  • Humans
  • Phenotype
  • Polymorphism, Genetic

Supplementary concepts

  • Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects