Brief report
Tetralogy of Fallot associated with chromosome 22q11 deletion

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Abstract

In summary, all patients with tetralogy and 22qH deletion had 1 to 4 additional conotruncal anomalies, such as high aortic arch, right aortic arch, infundibular septal defect, aberrant origin of the subclavian artery, major aortopulmonary collateral arteries, and anomalous ductus arteriosus causing isolation of either the left pulmonary artery or the subclavian artery.

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    TF with pulmonary stenosis and 22q11.2 DS is often associated with additional cardiovascular anomalies.57 In a study by Momma et al,57 the frequency of associated anomalies in patients with the deletion compared to those without deletion were as follows: right aortic arch 41% versus 18%, high aortic arch 50% versus 9%, infundibular septal defect 32% versus 5%, aberrant origin of the subclavian artery 14% versus 0%, isolated subclavian artery 14% versus 0%, and isolation of the pulmonary artery 9% versus 0%. Similarly, an increased incidence of additional cardiovascular anomalies in TF and 22q11.2 DS has been reported by some investigators37,45 but not by others.54

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    There are three clinically distinguishable types of TOF, i.e., with pulmonary stenosis, pulmonary atresia plus patent ductus arteriosus and pulmonary atresia plus aortopulmonary collaterals. The 22q11.2 deletion is associated with all three types of TOF [23,24]. Chessa and colleagues compared the morphology of the pulmonary vessels in TOF or pulmonary atresia–VSD with and without 22q11 deletion.

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