Turner Syndrome in Girls Presenting with Coarctation of the Aorta

The Journal of Pediatrics
Aaron EckhauserLorenzo D Botto

Abstract

To evaluate the frequency of Turner syndrome in a population-based, statewide cohort of girls with coarctation of the aorta. 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. 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. 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 ...Continue Reading

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Mar 23, 2017·The Journal of Clinical Endocrinology and Metabolism·David R MurdockPaul Kruszka
Sep 20, 2018·Heart·Kristian H MortensenJolien W Roos-Hesselink
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Aug 18, 2021·International Journal of Pediatrics & Adolescent Medicine·Vanessa GoritoJoana Carvalho

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