22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects
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 man...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-05-01
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| Series: | Children |
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| Online Access: | https://www.mdpi.com/2227-9067/9/6/772 |
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| author | Carolina Putotto Flaminia Pugnaloni Marta Unolt Stella Maiolo Matteo Trezzi Maria Cristina Digilio Annapaola Cirillo Giuseppe Limongelli Bruno Marino Giulio Calcagni Paolo Versacci |
| author_facet | Carolina Putotto Flaminia Pugnaloni Marta Unolt Stella Maiolo Matteo Trezzi Maria Cristina Digilio Annapaola Cirillo Giuseppe Limongelli Bruno Marino Giulio Calcagni Paolo Versacci |
| author_sort | Carolina Putotto |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T00:08:20Z |
| format | Article |
| id | doaj.art-9d3a167553ff4b998f66ad49a4ea390d |
| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-03-10T00:08:20Z |
| publishDate | 2022-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Children |
| spelling | doaj.art-9d3a167553ff4b998f66ad49a4ea390d2023-11-23T16:04:32ZengMDPI AGChildren2227-90672022-05-019677210.3390/children906077222q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart DefectsCarolina Putotto0Flaminia Pugnaloni1Marta Unolt2Stella Maiolo3Matteo Trezzi4Maria Cristina Digilio5Annapaola Cirillo6Giuseppe Limongelli7Bruno Marino8Giulio Calcagni9Paolo Versacci10Pediatric Cardiology Unit, Department of Pediatrics, Obstetrics and Gynecology, “Sapienza” University of Rome, Policlinico Umberto I, 00161 Rome, ItalyPediatric Cardiology Unit, Department of Pediatrics, Obstetrics and Gynecology, “Sapienza” University of Rome, Policlinico Umberto I, 00161 Rome, ItalyPediatric Cardiology Unit, Department of Pediatrics, Obstetrics and Gynecology, “Sapienza” University of Rome, Policlinico Umberto I, 00161 Rome, ItalyPediatric Cardiology Unit, Department of Pediatrics, Obstetrics and Gynecology, “Sapienza” University of Rome, Policlinico Umberto I, 00161 Rome, ItalyDepartment of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyGenetics and Rare Diseases Research Division, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyInherited and Rare Cardiovascular Disease—Pediatric Cardiology Unit, Monaldi Hospital, AORN Colli, 80131 Naples, ItalyInherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, ItalyPediatric Cardiology Unit, Department of Pediatrics, Obstetrics and Gynecology, “Sapienza” University of Rome, Policlinico Umberto I, 00161 Rome, ItalyDepartment of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyPediatric Cardiology Unit, Department of Pediatrics, Obstetrics and Gynecology, “Sapienza” University of Rome, Policlinico Umberto I, 00161 Rome, ItalyCongenital 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.https://www.mdpi.com/2227-9067/9/6/77222q11.2 deletion syndromeconotruncal heart defectsperioperative managementcardiac surgical outcome |
| spellingShingle | Carolina Putotto Flaminia Pugnaloni Marta Unolt Stella Maiolo Matteo Trezzi Maria Cristina Digilio Annapaola Cirillo Giuseppe Limongelli Bruno Marino Giulio Calcagni Paolo Versacci 22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects Children 22q11.2 deletion syndrome conotruncal heart defects perioperative management cardiac surgical outcome |
| title | 22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects |
| title_full | 22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects |
| title_fullStr | 22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects |
| title_full_unstemmed | 22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects |
| title_short | 22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects |
| title_sort | 22q11 2 deletion syndrome impact of genetics in the treatment of conotruncal heart defects |
| topic | 22q11.2 deletion syndrome conotruncal heart defects perioperative management cardiac surgical outcome |
| url | https://www.mdpi.com/2227-9067/9/6/772 |
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