ArticleEuropean journal of pediatrics2008
Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery.
Article in European journal of pediatrics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 83 citations in OpenAlex.
- Surgical Outcomes in Syndromic Tetralogy of Fallot: A Systematic Review and Evidence Quality Assessment.Pediatric cardiology · 2019Pooled it
- The molecular mechanisms of cardiac development and related diseases.Signal transduction and targeted therapy · 2024Review
- In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease.International journal of molecular sciences · 2024Review
- Article
- 22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects.Children (Basel, Switzerland) · 2022Review
- Prenatal Diagnosis of Pulmonary Atresia With Ventricular Septal Defect and an Aberrant Ductus Arteriosus in a Dextrocardia by Two- and Three-Dimensional Echocardiography: A Case Report.Frontiers in medicine · 2022Article
- Cytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Center.Arquivos brasileiros de cardiologia · 2022Article
- Review
- Hospital Survival After Surgical Repair of Truncus Arteriosus with Interrupted Aortic Arch: Results from a Multi-institutional Database.Pediatric cardiology · 2021Article
- CNVs in the 22q11.2 Chromosomal Region Should Be an Early Suspect in Infants with Congenital Cardiac Disease.Clinical Medicine Insights. Cardiology · 2021Article
- Review
- 22q11.2 Deletion Status Influences Resource Utilization in Infants Requiring Repair of Tetralogy of Fallot and Common Arterial Trunk.Pediatric cardiology · 2020Article
- The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review.Journal of pediatric genetics · 2020Review
- Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers.American journal of medical genetics. Part A · 2018Review
- Article
- The Impact of 22q11.2 Microdeletion on Cardiac Surgery Postoperative Outcome.Pediatric cardiology · 2017Article
- Article
- CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.Cardiology in the young · 2016Review
- DGCR6 at the proximal part of the DiGeorge critical region is involved in conotruncal heart defects.Human genome variation · 2015Article
- Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion.Arquivos brasileiros de cardiologia · 2014Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The association of conotruncal heart defects with 22q11.2 chromosomal microdeletions is well established. However, it is not clear whether particular types of conotruncal malformations or additional cardiovascular anomalies are associated with microdeletions. In addition, cardiac surgery outcome in children with conotruncal defects and del22q11.2 is not well described. We prospectively enrolled 214 children with conotruncal defects: 126 with tetralogy of Fallot (TOF), 18 with pulmonary atresia-ventricular septal defect (PA-VSD), 15 with truncus arteriosus communis (TAC) type I, one with interrupted aortic arch (IAA) type B, and 54 with the transposition of great arteries, who were consecutively hospitalized at the Pediatric Cardiology Department between 2003 and 2005. 22q11.2 microdeletion was identified by fluorescence in situ hybridization. The postoperative course following cardiac surgery was compared in patients with TOF and its more severe form, PA-VSD, with/without del22q11.2 (groups A and B) and TAC with/without del22q11.2 (groups C and D). In 15 of 214 patients, 22q11.2 microdeletion was diagnosed (in 11 with TOF/PA-VSD, in three with TAC, in one with IAA type B). In patients with TOF/PA-VSD and microdeletion anatomic features that were significantly associated with 22q11.2, deletion included right aortic arch (p = 0.018), aberrant right subclavian artery (p < 0.001), and major aortopulmonary collateral arteries (p = 0.016). A complicated postoperative course was more frequent and mortality was higher in patients with conotruncal defects and with/without microdeletion. We conclude that additional cardiovascular anomalies are significantly more frequent in children with 22q11.2 microdeletion and TOF/PA-VSD. Children with conotruncal heart defects and 22q11.2 microdeletion more frequently experienced complicated postoperative course after cardiac surgery.
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