دورية أكاديمية
22q11.2 Deletion Syndrome. Impact of Genetics in the Treatment of Conotruncal Heart Defects
| العنوان: | 22q11.2 Deletion Syndrome. Impact of Genetics in the Treatment of Conotruncal Heart Defects |
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| المؤلفون: | Putotto C., Pugnaloni F., Unolt M., Maiolo S., Trezzi M., Digilio M. C., Cirillo A., Limongelli G., Marino B., Calcagni G., Versacci P. |
| المساهمون: | Putotto, C., Pugnaloni, F., Unolt, M., Maiolo, S., Trezzi, M., Digilio, M. C., Cirillo, A., Limongelli, G., Marino, B., Calcagni, G., Versacci, P. |
| بيانات النشر: | MDPI ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND |
| سنة النشر: | 2022 |
| المجموعة: | Sapienza Università di Roma: CINECA IRIS |
| مصطلحات موضوعية: | 22q11.2 deletion syndrome, cardiac surgical outcome, conotruncal heart defect, perioperative management |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/35740709; info:eu-repo/semantics/altIdentifier/wos/WOS:000817704200001; volume:9; issue:6; firstpage:1; lastpage:14; numberofpages:14; journal:CHILDREN; https://hdl.handle.net/11573/1670969Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85131526222 |
| DOI: | 10.3390/children9060772 |
| الإتاحة: | https://doi.org/10.3390/children9060772Test https://hdl.handle.net/11573/1670969Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.86A2D880 |
| قاعدة البيانات: | BASE |
| DOI: | 10.3390/children9060772 |
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