Interrupted aortic arch type A with 22q11 deletion: prenatal detection of an unusual association

Prenat Diagn. 2002 May;22(5):371-4. doi: 10.1002/pd.320.


Interrupted aortic arch is a rare, severe congenital heart defect subdivided into three types, A, B and C, according to the site of interruption. Type C is by far the least common form of interrupted aortic arch (less than 5% of cases), type A is commonly an isolated defect whereas type B is frequently associated with 22q11 deletion. Differentiation of interrupted aortic arch type A from type B by prenatal echocardiography is possible but difficult; it needs to be done on the basis of observation of reliable morphological indicators which point to the correct diagnosis. Here we report the first case of prenatal diagnosis of interrupted aortic arch type A associated with 22q11 deletion. The significance of this association is not yet clear, since 22q11 genes mainly affect embryonic cardiovascular morphogenesis of those regions whose development is critically dependent on neural crest cell migration and function, affected in type B defect but not in type A.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aorta, Thoracic / abnormalities*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22*
  • Echocardiography
  • Female
  • Gestational Age
  • Heart Defects, Congenital / diagnostic imaging*
  • Heart Defects, Congenital / surgery
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Pregnancy
  • Treatment Outcome
  • Ultrasonography, Prenatal*