Pediatric Cardiology

, Volume 34, Issue 7, pp 1687–1694 | Cite as

22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases

  • Shabnam Peyvandi
  • Philip J. Lupo
  • Jennifer Garbarini
  • Stacy Woyciechowski
  • Sharon Edman
  • Beverly S. Emanuel
  • Laura E. Mitchell
  • Elizabeth Goldmuntz
Original Article


The 22q11.2 deletion syndrome is characterized by multiple congenital anomalies including conotruncal cardiac defects. Identifying the patient with a 22q11.2 deletion (22q11del) can be challenging because many extracardiac features become apparent later in life. We sought to better define the cardiac phenotype associated with a 22q11del to help direct genetic testing. 1,610 patients with conotruncal defects were sequentially tested for a 22q11del. The counts and frequencies of primary lesions and cardiac features were tabulated for those with and those without a 22q11del. Logistic regression models investigated cardiac features that predicted deletion status in tetralogy of Fallot (TOF). Deletion frequency varied by primary anatomic phenotype. Regardless of the cardiac diagnosis, a concurrent aortic arch anomaly (AAA) was strongly associated with deletion status [odds ratio (OR), 5.07; 95 % confidence interval (CI), 3.66–7.04]. In the TOF subset, the strongest predictor of deletion status was an AAA (OR, 3.14; 95 % CI 1.87–5.27; p < 0.001), followed by pulmonary valve atresia (OR, 2.03; 95 % CI 1.02–4.02; p = 0.04). Among those with double-outlet right ventricle and transposition of the great arteries, only those with an AAA had a 22q11del. However, 5 % of the patients with an isolated conoventricular ventricular septal defect and normal aortic arch anatomy had a 22q11del, whereas no one with an interrupted aortic arch type A had a 22q11del. A subset of patients with conotruncal defects are at risk for a 22q11del. A concurrent AAA increases the risk regardless of the intracardiac anatomy. These findings help to direct genetic screening for the 22q11.2 deletion syndrome in the cardiac patient.


Congenital Conotruncal cardiac defects Genes Genetic heart disease 



This study was supported by the National Institutes of Health (grants number-HL062177 and number-HL074731) and by grant number UL1RR024134 from the National Center for Research Resources. The content is solely the responsibility of the authors and does not necessarily represent the official view of the National Center for Research Resources or the National Institutes of Health.

Supplementary material

246_2013_694_MOESM1_ESM.docx (80 kb)
Supplementary material 1 (DOCX 80 kb)


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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Shabnam Peyvandi
    • 1
  • Philip J. Lupo
    • 2
  • Jennifer Garbarini
    • 1
  • Stacy Woyciechowski
    • 1
  • Sharon Edman
    • 1
  • Beverly S. Emanuel
    • 3
  • Laura E. Mitchell
    • 4
  • Elizabeth Goldmuntz
    • 1
  1. 1.Division of Pediatric Cardiology, The Children’s Hospital of Philadelphia, Department of Pediatrics at the Perelman School of MedicineThe University of PennsylvaniaPhiladelphiaUSA
  2. 2.Department of PediatricsBaylor College of MedicineHoustonUSA
  3. 3.Division of Human Genetics, The Children’s Hospital of Philadelphia, Department of Pediatrics at the Perelman School of MedicineThe University of PennsylvaniaPhiladelphiaUSA
  4. 4.Human Genetics Center, Department of Epidemiology, Human Genetics and Environmental SciencesThe University of Texas School of Public HealthHoustonUSA

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