Anatomic patterns of conotruncal defects associated with deletion 22q11

Purpose: Patients with cardiovascular malformations (CVMs) and deletion 22q 11 from our series were studied in order to (1) analyze the association wit h dysmorphic features and noncardiac anomalies, (2) identify specific cardi ac patterns and the distinctive association with additional CVMs. Methods: From 1993 to 2000, 931 patients with CVM (95 with a clinical diagnosis of D iGeorge/velocardiofacial syndrome (DG/VCFS), 208 with different genetic syn dromes, 628 without dysmorphic features) underwent accurate cardiac assessm ent, clinical and phenotypical examination, and screening for deletion 22q1 1 by fluorescence in situ hybridization (FISH). Results: Deletion 22q11 was detected in 88 of the total patients, and in 87 of the 95 patients with a clinical diagnosis of DG/VCFS. Only one patient among the 628 without dysmo rphic features had deletion 22q11. Conotruncal heart defects were the most common CVMs, often presenting in association with additional anomalies in f our areas of the cardiovascular system: (1) the aortic arch can be right si ded, cervical, double, and the subclavian artery can be aberrant, (2) the p ulmonary arteries can present discontinuity, diffuse hypoplasia, discrete s tenosis, defect of arborization and major aortopulmonary collateral arterie s (MAPCA), (3) the infundibular septum can be malaligned, hypoplastic, or a bsent, (4) the semilunar valves can be bicuspid, severely dysplastic, insuf ficient, or stenotic. Conclusion: In subjects with deletion 22q11 CVM is vi rtually always associated with one or more noncardiac anomalies. Deletion 2 2q11 is exceptionally rare in children with nonsyndromic CVMs. Specific pat terns of CVMs are observed in patients with deletion 22q11, including (1) a nomalies of the aortic arch, (2) anomalies of the pulmonary arteries and of the pulmonary blood supply, (3) defects of the infundibular septum, (4) ma lformations of the semilunar valves. These additional CVMs may influence th e surgical treatment of these patients.