ArticleHeart (British Cardiac Society)1998
Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia-ventricular septal defect.
Article in Heart (British Cardiac Society), 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 98 citations in OpenAlex.
- 22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects.Children (Basel, Switzerland) · 2022Review
- Angiographic Anatomy of Major Aortopulmonary Collateral Arteries and Association With Early Surgical Outcomes in Tetralogy of Fallot.Journal of the American Heart Association · 2020Article
- Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations.Nature communications · 2020Article
- 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
- 22q11.2 Deletion Status and Perioperative Outcomes for Tetralogy of Fallot with Pulmonary Atresia and Multiple Aortopulmonary Collateral Vessels.Pediatric cardiology · 2018Article
- Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in theCirculation. Cardiovascular genetics · 2017Article
- Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.European journal of pediatrics · 2013Article
- Patterns of cardiac and extracardiac anomalies in adults with tetralogy of fallot.American heart journal · 2011Article
- Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery.European journal of pediatrics · 2008Article
- The fate of children with microdeletion 22q11.2 syndrome and congenital heart defect: clinical course and cardiac outcome.Pediatric cardiology · 2008Article
- Prenatally diagnosed pulmonary atresia with ventricular septal defect: echocardiography, genetics, associated anomalies and outcome.Heart (British Cardiac Society) · 2006Article
- Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome).Images in paediatric cardiology · 2005Article
- Management of Pulmonary Atresia with Ventricular Septal Defect.Current treatment options in cardiovascular medicine · 2003Article
- Pulmonary atresia with intact ventricular septum and major aortopulmonary collaterals: association with deletion 22q11.2.Pediatric cardiologyArticle
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo compare the morphology of the pulmonary vessels in tetralogy of Fallot or pulmonary atresia-ventricular septal defect (PA-VSD) with (del22q) and without 22Q11 deletion (non-del22q). PATIENTS: 94 consecutive infants (54 with tetralogy of Fallot, 40 with PA-VSD) were studied using ultrasound and catheterisation. MOLECULAR INVESTIGATIONS: Identification of the 22q deletion was performed either by fluorescent in situ hybridisation or polymerisation chain reaction genotyping.
results25 patients were del22q (16/40 (40%) PA-VSD v 9/54 (17%) tetralogy of Fallot; p < 0.02). Major aortopulmonary collateral arteries was more common in patients with PA-VSD-del22q (p < 0.03). Such collaterals were identified in 13 patients: 10 del22q and three non-del22q (p < 0.001). The size of the right and left pulmonary arteries expressed as a standard deviation (SD) difference of the normal range was -4.2 (quartiles -5.3 and -2.9) for PA-VSD del22q, and -2.6 (-3.1 and -1.8) for PA-VSD non-del22q (p = 0.02). The mean (SD) difference between the measured and theoretical Nakata index was -373 (94) for PA-VSD del22q v -245 (93) in PA-VSD non-del22q (p = 0.0002). In tetralogy of Fallot patients with and without del22q, the size of the pulmonary arteries was similar (p = 0.6).
conclusionsA "specific" phenotype could be defined in patients with deletion: PA-VSD, major aortopulmonary collateral arteries with complex loop morphology, and small central pulmonary arteries. Differences in the morphology of the pulmonary vessels may indicate a different timing of the faulty developmental pathway in patients with and without 22q11 deletion.
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