Elastin gene study of infants with isolated congenital ductus arteriosus aneurysm

Objective - To investigate whether isolated congenital ductus arteriosus aneurysm (DAA) is caused by loss of function of mutations in the elastin gene (ELN), we screened the elastin gene, which has been proposed as a candidate gene in DAA. Methods and results - A total of 2249 full-term neonates received echocardiographic screening. Newborns with isolated DAA were divided into two groups: those with large DAA (>= 10 mm) and small DAA (< 10 mm). ELN gene study was performed randomly for newborns with DAA. There were 186 (8.3%) newborns with DAAs. Among them, 29 had large and 157 had small DAA detected by 2DE. Maximum internal diameter of the DAAs ranged from 6.6 to 14.0 mm (8.3 +/- 1.2 mm). All cases were asymptomatic. Fifteen newborns with large DAA and 14 with small DAA received ELN gene analysis. Among them, 4 infants had single nucleotide variations, including nucleotide 212 C-T in 2, 278 C-T in one, and 1232 T-C in one. We considered the possibility that these might be a neutral single nucleotide polymorphism rather than a mutation. Conclusions - The incidence of congenital DAA and clinical presentations were consistent with those of our previous report. Based on our findings, the ELN gene can be excluded as a candidate gene in DAA. We consider the presence of DAA may be a normal variant of ductus arteriosus in full-term infants.