Elastin gene study of infants with isolated congenital ductus arteriosus aneurysm

  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},
  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.
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
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.


Isolated neonatal ductus arteriosus aneurysm.
Elastin: mutational spectrum in supravalvular aortic stenosis
The spectrum of mutations occurring in familial and sporadic SVAS is described and the mutational mechanisms involved in SVAS are attempted to define, to identify the four missense mutations identified.
Aneurysm of the ductus arteriosus: a congenital lesion.
It is postulate that, at least in some cases, aneurysm of the ductus arteriosus is a congenital lesion that may represent poststenotic dilation of theductus due to turbulent flow through a stenotic segment at its pulmonary artery end during fetal life.
Aneurysm of the ductus arteriosus. A review of the literature and the surgical implications.
  • J. Lund, M. Jensen, E. Hjelms
  • Medicine
    European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
  • 1991
Prenatal ultrasonographic diagnosis of ductus arteriosus aneurysm with spontaneous neonatal closure
  • K. Puder, D. Sherer, R. Romero
  • Medicine
    Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
  • 1995
The first report of prenatal ultrasonographic diagnosis of isolated ductus arteriosus aneurysm is presented, presented at 39 weeks as an enlarged, dilated, vascular structure 15 mm in diameter, which began at the bifurcation of the main pulmonary artery and ended in the descending aorta.
Aneurysm of the ductus arteriosus in the neonate: Three case reports with a review of the literature
Ductus arteriosus aneurysm was demonstrated in three neonates by echocardiography and one patient needed surgical resection, whereas in one case the aneurYSm of the ductus arteria regressed spontaneously.
Aneurysm of the nonpatent ductus arteriosus.
The relationship between abdominal aortic aneurysm distensibility and serum markers of elastin and collagen metabolism.
increased elastolysis is associated with increased AAA wall distensibility; whereas increased collagen turn-over isassociated with reduced distensible.