22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects.
22q11.2 deletion syndrome
cardiac surgical outcome
conotruncal heart defects
perioperative management
Journal
Children (Basel, Switzerland)
ISSN: 2227-9067
Titre abrégé: Children (Basel)
Pays: Switzerland
ID NLM: 101648936
Informations de publication
Date de publication:
25 May 2022
25 May 2022
Historique:
received:
28
02
2022
revised:
22
04
2022
accepted:
23
05
2022
entrez:
24
6
2022
pubmed:
25
6
2022
medline:
25
6
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 35740709
pii: children9060772
doi: 10.3390/children9060772
pmc: PMC9222179
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
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