Congenital heart defects are found in 60% to 80% of patients with 22q11 deletion syndrome. Most of these patients have conotruncal defects with additional anomalies of the aortic arch, pulmonary arteries, infundibular septum, and semilunar valves. The most common abnormalities include tetralogy of Fallot, pulmonary atresia with ventricular septal defect (VSD), truncus arteriosus (TA), IAA, isolated anomalies of the aortic arch, and VSD. These defects arise during the crucial developmental stages of the truncoconal parts of the heart from the pharyngeal pouch derivatives. The American Heart Association now recommends screening fetal, pediatric, and adult patients for 22q11.2 deletion syndrome if the patient is diagnosed with the specific cardiac anomalies listed earlier. Echocardiography, computed tomography (CT), and cardiac MRI are important in defining the cardiac and associated anatomy in detail. These modalities can provide an invaluable understanding of the anatomy required for presurgical planning.

References

• Cirillo A, Lioncino M, Maratea A, et al. Clinical manifestations of 22q11.2 deletion syndrome. Heart Fail Clin. 2022;18:155-164.
• Friedman K. Preoperative physiology, imaging, and management of interrupted aortic arch. Semin Cardiothorac Vasc Anesth. 2018;22:265-269.
• Goldmuntz E. 22q11.2 deletion syndrome and congenital heart disease. Am J Med Genet C Semin Med Genet. 2020;184:64-72.