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Congenital extracardiac venous system anomaly in two siblings with normal karyotype and increased nuchal translucency thickness: a case report
Previous studies have reported that congenital heart diseases (CHDs) develop in patients with genetic and environmental predisposition. Compared to CHDs, the significance of hereditary factors in the pathogenesis of congenital venous system anomalies remains unclear. Additionally, reports describing...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7293141/ https://www.ncbi.nlm.nih.gov/pubmed/32551126 http://dx.doi.org/10.1093/omcr/omaa034 |
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author | Takahashi, Yuko Nagamatsu, Takeshi Fujii, Tatsuya Hashimoto, Ayako Sayama, Seisuke Seyama, Takahiro Iriyama, Takayuki Kumasawa, Keiichi Osuga, Yutaka Fujii, Tomoyuki |
author_facet | Takahashi, Yuko Nagamatsu, Takeshi Fujii, Tatsuya Hashimoto, Ayako Sayama, Seisuke Seyama, Takahiro Iriyama, Takayuki Kumasawa, Keiichi Osuga, Yutaka Fujii, Tomoyuki |
author_sort | Takahashi, Yuko |
collection | PubMed |
description | Previous studies have reported that congenital heart diseases (CHDs) develop in patients with genetic and environmental predisposition. Compared to CHDs, the significance of hereditary factors in the pathogenesis of congenital venous system anomalies remains unclear. Additionally, reports describing the pathogenic relationship between venous system anomalies and increased nuchal translucency (NT) are few. We report sibling recurrence of congenital venous system anomalies. In the prenatal periods of both siblings, increased NT without aneuploidy was confirmed. In the first sibling, the absence of ductus venosus (ADV) and umbilical vein-coronary sinus anastomosis was detected using prenatal ultrasonography. In the second sibling, abnormality of the pulmonary vein was suspected prenatally, leading to a final diagnosis of infracardiac total anomalous pulmonary venous return (TAPVR). This is the first report of extracardiac venous anomaly-associated recurrence of increased NT among siblings. We conclude that a hereditary factor may be responsible for the development of ADV and TAPVR. |
format | Online Article Text |
id | pubmed-7293141 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-72931412020-06-17 Congenital extracardiac venous system anomaly in two siblings with normal karyotype and increased nuchal translucency thickness: a case report Takahashi, Yuko Nagamatsu, Takeshi Fujii, Tatsuya Hashimoto, Ayako Sayama, Seisuke Seyama, Takahiro Iriyama, Takayuki Kumasawa, Keiichi Osuga, Yutaka Fujii, Tomoyuki Oxf Med Case Reports Case Report Previous studies have reported that congenital heart diseases (CHDs) develop in patients with genetic and environmental predisposition. Compared to CHDs, the significance of hereditary factors in the pathogenesis of congenital venous system anomalies remains unclear. Additionally, reports describing the pathogenic relationship between venous system anomalies and increased nuchal translucency (NT) are few. We report sibling recurrence of congenital venous system anomalies. In the prenatal periods of both siblings, increased NT without aneuploidy was confirmed. In the first sibling, the absence of ductus venosus (ADV) and umbilical vein-coronary sinus anastomosis was detected using prenatal ultrasonography. In the second sibling, abnormality of the pulmonary vein was suspected prenatally, leading to a final diagnosis of infracardiac total anomalous pulmonary venous return (TAPVR). This is the first report of extracardiac venous anomaly-associated recurrence of increased NT among siblings. We conclude that a hereditary factor may be responsible for the development of ADV and TAPVR. Oxford University Press 2020-06-13 /pmc/articles/PMC7293141/ /pubmed/32551126 http://dx.doi.org/10.1093/omcr/omaa034 Text en © The Author(s) 2020. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Case Report Takahashi, Yuko Nagamatsu, Takeshi Fujii, Tatsuya Hashimoto, Ayako Sayama, Seisuke Seyama, Takahiro Iriyama, Takayuki Kumasawa, Keiichi Osuga, Yutaka Fujii, Tomoyuki Congenital extracardiac venous system anomaly in two siblings with normal karyotype and increased nuchal translucency thickness: a case report |
title | Congenital extracardiac venous system anomaly in two siblings with normal karyotype and increased nuchal translucency thickness: a case report |
title_full | Congenital extracardiac venous system anomaly in two siblings with normal karyotype and increased nuchal translucency thickness: a case report |
title_fullStr | Congenital extracardiac venous system anomaly in two siblings with normal karyotype and increased nuchal translucency thickness: a case report |
title_full_unstemmed | Congenital extracardiac venous system anomaly in two siblings with normal karyotype and increased nuchal translucency thickness: a case report |
title_short | Congenital extracardiac venous system anomaly in two siblings with normal karyotype and increased nuchal translucency thickness: a case report |
title_sort | congenital extracardiac venous system anomaly in two siblings with normal karyotype and increased nuchal translucency thickness: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7293141/ https://www.ncbi.nlm.nih.gov/pubmed/32551126 http://dx.doi.org/10.1093/omcr/omaa034 |
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