Genetic research of pulmonary atresia

Abstract

Objective To explore the genetic defects in patients with pulmonary atresia(PA). Methods Twenty-three patients with PA were studied from recent 1 year.There were 15 boys and 8 girls, aged 2 days to 10 years.Among them, there were 3 cases with complete ventricle septum, 20 cases with VSD, 3 cases without main pulmonary trunk, 20 cases with PDA, 6 cases with integrated major aorto-pulmonary collateral arteries(MAPCAs), 3 cases with integrated right aortic arch, 2 cases with integrated extra-cardiac abnormality with the manifestation of facial abnormality, 1 case with integrated aberrant right subclavian artery, and 1 case with integrated tracheal bronchus.The chromosomes of the children were routinely analyzed.Negative chromosomes were examined to identify the 22q11.2 microdeletion by fluorescence in situ hybridization(FISH) test. Results One case of trisomy syndrome was found.22q11.2 microdeletion was found in 3 cases.Among 22q11 microdeletion cases, 1 case was intact ventricular septum, 2 cases were integrated VSD.22q11.2 microdeletion was not found in the rest 19 cases. Conclusions Twenty-one trisomy syndrome and Del 22q11.2 syndrome may play an important role in the pathogenesis of PA.TBX1 probe can be used to examine 22q11.2 microdeletion.Del 22q11.2 syndrome was suspected in cases of incorporating aberrant subclavian artery, MAPCAs and severe poor development of pulmonary artery. Key words: Pulmonary atresia; 21-trisomy syndrome; Del 22q11.2 syndrome