Anatomic patterns of conotruncal defects associated with deletion 22q11

Genet Med. 2001 Jan-Feb;3(1):45-8. doi: 10.1097/00125817-200101000-00010.


Purpose: Patients with cardiovascular malformations (CVMs) and deletion 22q11 from our series were studied in order to (1) analyze the association with dysmorphic features and noncardiac anomalies, (2) identify specific cardiac patterns and the distinctive association with additional CVMs.

Methods: From 1993 to 2000, 931 patients with CVM (95 with a clinical diagnosis of DiGeorge/velocardiofacial syndrome (DG/VCFS), 208 with different genetic syndromes, 628 without dysmorphic features) underwent accurate cardiac assessment, clinical and phenotypical examination, and screening for deletion 22q11 by fluorescence in situ hybridization (FISH).

Results: Deletion 22q11 was detected in 88 of the total patients, and in 87 of the 95 patients with a clinical diagnosis of DG/VCFS. Only one patient among the 628 without dysmorphic features had deletion 22q11. Conotruncal heart defects were the most common CVMs, often presenting in association with additional anomalies in four areas of the cardiovascular system: (1) the aortic arch can be right sided, cervical, double, and the subclavian artery can be aberrant, (2) the pulmonary arteries can present discontinuity, diffuse hypoplasia, discrete stenosis, defect of arborization and major aortopulmonary collateral arteries (MAPCA), (3) the infundibular septum can be malaligned, hypoplastic, or absent, (4) the semilunar valves can be bicuspid, severely dysplastic, insufficient, or stenotic.

Conclusion: In subjects with deletion 22q11 CVM is virtually always associated with one or more noncardiac anomalies. Deletion 22q11 is exceptionally rare in children with nonsyndromic CVMs. Specific patterns of CVMs are observed in patients with deletion 22q11, including (1) anomalies of the aortic arch, (2) anomalies of the pulmonary arteries and of the pulmonary blood supply, (3) defects of the infundibular septum, (4) malformations of the semilunar valves. These additional CVMs may influence the surgical treatment of these patients.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Aorta, Thoracic / abnormalities
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22*
  • DiGeorge Syndrome / diagnosis*
  • DiGeorge Syndrome / genetics*
  • Female
  • Genotype
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / genetics*
  • Heart Septal Defects, Ventricular / diagnosis
  • Heart Septal Defects, Ventricular / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Infant, Newborn
  • Male
  • Phenotype
  • Pulmonary Atresia / diagnosis
  • Pulmonary Atresia / genetics
  • Tetralogy of Fallot / diagnosis
  • Tetralogy of Fallot / genetics
  • Truncus Arteriosus / abnormalities