Elastin gene study of infants with isolated congenital ductus arteriosus aneurysm

@article{Jan2009ElastinGS,
  title={Elastin gene study of infants with isolated congenital ductus arteriosus aneurysm},
  author={Sheng-Ling Jan and Sheng-Ching Chan and Yun-Ching Fu and Shing‐Jong Lin},
  journal={Acta Cardiologica},
  year={2009},
  volume={64},
  pages={363 - 369}
}
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 (≥10mm) and small DAA (<10mm). ELN gene study was performed randomly for newborns with… 
2 Citations
The fetal ductus arteriosus and its abnormalities--a review.
TLDR
Understanding the transcriptional regulation of normal DA development, maturation, and closure of the arterial duct as well as the hemodynamic changes during pregnancy and after delivery may provide additional targets for rational drug design to either close or open the DA, both antenatally and postnatally.
Mouse models of patent ductus arteriosus (PDA) and their relevance for human PDA
TLDR
Comparison and functional analyses of 224 human single‐gene syndromes that are associated with PDA provide insight into DA development and identify key regulatory pathways that may serve as potential therapeutic targets for the management of PDA.

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