Clinical Manifestations of 22q11.2 Deletion Syndrome

Heart Fail Clin. 2022 Jan;18(1):155-164. doi: 10.1016/j.hfc.2021.07.009. Epub 2021 Oct 25.


DiGeorge syndrome (DGS), also known as "22q11.2 deletion syndrome" (22q11DS) (MIM # 192430 # 188400), is a genetic disorder caused by hemizygous microdeletion of the long arm of chromosome 22. In the last decades, the introduction of fluorescence in situ hybridization assays, and in selected cases the use of multiplex ligation-dependent probe amplification, has allowed the detection of chromosomal microdeletions that could not be previously identified using standard karyotype analysis. The aim of this review is to address cardiovascular and systemic involvement in children with DGS, provide genotype-phenotype correlations, and discuss their medical management and therapeutic options.

Keywords: 22q11.2 deletion syndrome; Aortic arch abnormalities; Conotruncal abnormalities; Di George syndrome.

Publication types

  • Review

MeSH terms

  • Chromosome Deletion
  • DiGeorge Syndrome* / diagnosis
  • DiGeorge Syndrome* / genetics
  • DiGeorge Syndrome* / therapy
  • Heart Defects, Congenital*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Marfan Syndrome*