Brief reportTetralogy of Fallot associated with chromosome 22q11 deletion
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Cited by (79)
Congenital heart disease and cardiovascular abnormalities associated with 22q11.2 deletion syndrome
2022, The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and TreatmentGenetics and Genomics in Cardiovascular Gene Discovery
2012, Muscle: Fundamental Biology and Mechanisms of DiseaseCardiovascular Anomalies Associated With Chromosome 22q11.2 Deletion Syndrome
2010, American Journal of CardiologyCitation Excerpt :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
Extracardiac features predicting 22q11.2 Deletion Syndrome in adult congenital heart disease
2008, International Journal of CardiologyFrequency of 22q11.2 microdeletion in sporadic non-syndromic tetralogy of Fallot cases
2008, International Journal of CardiologyCitation Excerpt :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.