title: Turner Syndrome in Girls Presenting with Coarctation of the Aorta.
abstract: OBJECTIVE
  To evaluate the frequency of Turner syndrome in a population-based, statewide cohort of girls with coarctation of the aorta.
  
  
  METHODS
  The Utah Birth Defects Network was used to ascertain a cohort of girls between 1997 and 2011 with coarctation of the aorta. Livebirths with isolated coarctation of the aorta or transverse arch hypoplasia were included and patients with complex congenital heart disease not usually seen in Turner syndrome were excluded.
  
  
  RESULTS
  Of 244 girls with coarctation of the aorta, 77 patients were excluded, leaving a cohort of 167 girls; 86 patients (51%) had chromosomal studies and 21 (12.6%) were diagnosed with Turner syndrome. All patients were diagnosed within the first 4 months of life and 5 (24%) were diagnosed prenatally. Fifteen patients (71%) had Turner syndrome-related findings in addition to coarctation of the aorta. Girls with mosaicism were less likely to have Turner syndrome-associated findings (3/6 mosaic girls compared with 12/17 girls with non-mosaic 45,X). Twelve girls (57%) diagnosed with Turner syndrome also had a bicommissural aortic valve.
  
  
  CONCLUSIONS
  At least 12.6% of girls born with coarctation of the aorta have karyotype-confirmed Turner syndrome. Such a high frequency, combined with the clinical benefits of an early diagnosis, supports genetic screening for Turner syndrome in girls presenting with coarctation of the aorta.
authors: Section of Pediatric Cardiothoracic Surgery, Department of Surgery, University of Utah, Salt Lake City, UT; Heart Center at Primary Children's Hospital, Intermountain Healthcare, Salt Lake City, UT. Electronic address: Aaron.eckhauser@hsc.utah.edu.
authors: Aaron
authors: A
authors: Eckhauser
authors: Department of Pathology, University of Utah, Salt Lake City, UT.
authors: Sarah T
authors: ST
authors: South
authors: Heart Center at Primary Children's Hospital, Intermountain Healthcare, Salt Lake City, UT; Division of Pediatric Cardiology, Department of Pediatrics, University of Utah, Salt Lake City, UT.
authors: Lindsay
authors: L
authors: Meyers
authors: Division of Pediatric Cardiology, Department of Pediatrics, University of Utah, Salt Lake City, UT.
authors: Steven B
authors: SB
authors: Bleyl
authors: Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT.
authors: Lorenzo D
authors: LD
authors: Botto
mesh_terms: D000293:Adolescent; D001017:Aortic Coarctation / Q000150:complications* / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D005260:Female; D005820:Genetic Testing; D006801:Humans; D015994:Incidence; D012189:Retrospective Studies; D014424:Turner Syndrome / Q000150:complications* / Q000453:epidemiology / Q000235:genetics; D014589:Utah / Q000453:epidemiology