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  1. Klaartje van Engelen1,2,
  2. Marieke J H Baars2,
  3. Alex V Postma3,
  4. Barbara J M Mulder1,4
  1. 1Department of Cardiology, Academic Medical Center, Amsterdam, The Netherlands
  2. 2Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands
  3. 3Heart Failure Research Center, Department of Anatomy and Embryology, Academic Medical Center, Amsterdam, The Netherlands
  4. 4Interuniversity Cardiology Institute of The Netherlands, Utrecht, The Netherlands
  1. Correspondence to Klaartje van Engelen, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands; k.vanengelen{at}amc.uva.nl

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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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