Relation of genotype 22q11 delection to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia-ventricular septal defect

摘要

Conclusions-A "specific" phenotype could be defined inpatients with deletion: PA-VSD, major aortopulmonary collat- Eral arteries with complex loop morphol- Ogy, and small central pulmonary Arteries. Differences in the morphology of The pulmonary vessels may indicate a dif- Ferent timing of the faulty developmental Pathway in patients with and without 22q11 deletion. Objective-To compare the morphology of The pulmonary vessels in tetralogy of Fal- lot or pulmonary atresia-ventricular sep- tal defect (PA-VSD) with (del22q) and without 22q11 delection (non-del22q).