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We thank Digilio et al for their interest in our paper, showing that 22q11.2 deletion syndrome (22q11.2DS) is underrecognised in adults with tetralogy of Fallot (TOF) and with pulmonary atresia (PA)/ventricular septal defect (VSD).1 Digilio et al disagree with our recommendation to consider genetic testing for the syndrome in all adults with TOF and PA/VSD. Rather they propose to reserve this for patients with associated ‘classic’ or ‘subtle’ extracardiac anomalies and to …
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