A 3-month-old infant is diagnosed with a deletion at the 22q11 chromosome. A routine cardiovascular examination reveals severe congenital cardiac malformation. Which of the following malformations will most likely be associated with 22q11 syndrome?
Tetralogy of Fallot and truncus aeriosus are associated with DiGeorge syndrome (22q11). Transposition of the great aeries is associated with maternal diabetes. ASDs and VSDs are present in individuals with Down syndrome. Coarctation of the aoa is related to Turner syndrome. Aoic atresia is present in individuals with Marfan syndrome. CATCH 22 = mnemonic for DiGeorge syndrome Cardiac - aoic arch anomalies, conotruncal (TOF, truncus aerious, interrupted aoa), tricuspid atresia, Abnormal facies - hypeelorism, ear anomalies, sho down slanting palpebral fissures (antimongoloid), sho philtrum Thymic hypoplasia - cellular immune deficiency: abnormal number and function of T-cells) Cellular immune deficiency; Cleft palate Hypoparathyroid with hypocalcemia - tetany 22 Chromosome defect deletion 22q11; dx by FISH
Tetralogy of Fallot and truncus aeriosus
Transposition of the great aeries
Atrial septal and ventricular septal defects
Coarctation of the aoa
Embryology and Histology