Heart Defects
Heart defects are common in children with chromosome 22 disorders. Several of our group member’s children have undergone heart surgery to correct their defects, either through a procedure called heart catheterization, or open-heart surgery. Most have done well after their surgery and parents will be able to share their experiences and help you know what you may expect.
Some common heart defects can include:
- Atrial Septal Defect or ASD
- Ventricular Septal Defect or VSD
- Patent Ductus Arteriosus or PDA
- Interrupted Aortic Arch
- Truncus Arteriosis
- Pulmonic Stenosis
- Total Anomalous Pulmonary Venous Return or TAPVR
- Tetralogy of Fallot
- Coarctation of the Aorta
Read more about common types of heart defects at American Heart Association
Connect with other C22C parents for support!
Additional information
CDC – Learn About Congenital Heart Defects
Pediatric Heart Surgery – A Parent Guide – UVA Health
American Heart Association – Preparing for your child’s Heart surgery
Pediatric Heart Surgery – Mount Sinai Hospital
Congenital Heart Defects in Children – Mayo Clinic
At Home After Heart Surgery – SickKids Hospital
More reading
Goldmuntz, E., Bassett, A. S., Boot, E., Marino, B., Moldenhauer, J. S., Óskarsdóttir, S., Putotto, C., Rychik, J., Schindewolf, E., McDonald-McGinn, D. M., & Blagowidow, N. (2024). Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation. Prenatal diagnosis, 44(6-7), 804–814. https://doi.org/10.1002/pd.6566
Goldmuntz E. (2020). 22q11.2 deletion syndrome and congenital heart disease. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 184(1), 64–72. https://doi.org/10.1002/ajmg.c.31774
Ko J. M. (2015). Genetic Syndromes associated with Congenital Heart Disease. Korean Circulation Journal, 45(5), 357–361. https://doi.org/10.4070/kcj.2015.45.5.357
