22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects
Carolina Putotto,
Flaminia Pugnaloni,
Marta Unolt,
Stella Maiolo,
Matteo Trezzi,
Maria Cristina Digilio,
Annapaola Cirillo,
Giuseppe Limongelli,
Bruno Marino,
Giulio Calcagni,
Paolo Versacci
Affiliations
Carolina Putotto
Pediatric Cardiology Unit, Department of Pediatrics, Obstetrics and Gynecology, “Sapienza” University of Rome, Policlinico Umberto I, 00161 Rome, Italy
Flaminia Pugnaloni
Pediatric Cardiology Unit, Department of Pediatrics, Obstetrics and Gynecology, “Sapienza” University of Rome, Policlinico Umberto I, 00161 Rome, Italy
Marta Unolt
Pediatric Cardiology Unit, Department of Pediatrics, Obstetrics and Gynecology, “Sapienza” University of Rome, Policlinico Umberto I, 00161 Rome, Italy
Stella Maiolo
Pediatric Cardiology Unit, Department of Pediatrics, Obstetrics and Gynecology, “Sapienza” University of Rome, Policlinico Umberto I, 00161 Rome, Italy
Matteo Trezzi
Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
Maria Cristina Digilio
Genetics and Rare Diseases Research Division, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
Annapaola Cirillo
Inherited and Rare Cardiovascular Disease—Pediatric Cardiology Unit, Monaldi Hospital, AORN Colli, 80131 Naples, Italy
Giuseppe Limongelli
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, Italy
Bruno Marino
Pediatric Cardiology Unit, Department of Pediatrics, Obstetrics and Gynecology, “Sapienza” University of Rome, Policlinico Umberto I, 00161 Rome, Italy
Giulio Calcagni
Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
Paolo Versacci
Pediatric Cardiology Unit, Department of Pediatrics, Obstetrics and Gynecology, “Sapienza” University of Rome, Policlinico Umberto I, 00161 Rome, Italy
Congenital heart diseases represent one of the hallmarks of 22q11.2 deletion syndrome. In particular, conotruncal heart defects are the most frequent cardiac malformations and are often associated with other specific additional cardiovascular anomalies. These findings, together with extracardiac manifestations, may affect perioperative management and influence clinical and surgical outcome. Over the past decades, advances in genetic and clinical diagnosis and surgical treatment have led to increased survival of these patients and to progressive improvements in postoperative outcome. Several studies have investigated long-term follow-up and results of cardiac surgery in this syndrome. The aim of our review is to examine the current literature data regarding cardiac outcome and surgical prognosis of patients with 22q11.2 deletion syndrome. We thoroughly evaluate the most frequent conotruncal heart defects associated with this syndrome, such as tetralogy of Fallot, pulmonary atresia with major aortopulmonary collateral arteries, aortic arch interruption, and truncus arteriosus, highlighting the impact of genetic aspects, comorbidities, and anatomical features on cardiac surgical treatment.
