The pattern of cardiovascular malformation in the CHARGE association

Am J Dis Child. 1987 Sep;141(9):1010-3. doi: 10.1001/archpedi.1987.04460090087034.


Congenital heart disease occurred in 64% of patients with the CHARGE (coloboma, heart disease, choanal atresia, retardation of postnatal growth and mental development, genitalia hypoplasia, and ear anomalies) association (55% of 67 previously described patients and 100% of 16 new patients). Of those with congenital heart disease, 42% had conotruncal anomalies (tetralogy of Fallot, double-outlet right ventricle, truncus arteriosus), and 36% had aortic arch anomalies (vascular ring, aberrant subclavian artery, interrupted aortic arch). This striking pattern of cardiovascular malformations is similar to that found in the DiGeorge sequence.

MeSH terms

  • Abnormalities, Multiple*
  • Choanal Atresia / complications
  • Coloboma / complications
  • Developmental Disabilities / complications
  • Ear / abnormalities
  • Female
  • Genitalia / abnormalities
  • Heart Defects, Congenital / epidemiology
  • Heart Defects, Congenital / pathology*
  • Heart Diseases / complications
  • Humans
  • Male