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Discordant congenital heart defects in monochorionic twins: Risk factors and proposed pathophysiology

A six-fold increase in congenital heart defects (CHD) exists among monochorionic (MC) twins compared to singleton or dichorionic twin pregnancies. Though MC twins share an identical genotype, discordant phenotypes related to CHD and other malformations have been described, with reported rates of con...

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Autores principales: Imany-Shakibai, Helia, Yin, Ophelia, Russell, Matthew R., Sklansky, Mark, Satou, Gary, Afshar, Yalda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8101911/
https://www.ncbi.nlm.nih.gov/pubmed/33956871
http://dx.doi.org/10.1371/journal.pone.0251160
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author Imany-Shakibai, Helia
Yin, Ophelia
Russell, Matthew R.
Sklansky, Mark
Satou, Gary
Afshar, Yalda
author_facet Imany-Shakibai, Helia
Yin, Ophelia
Russell, Matthew R.
Sklansky, Mark
Satou, Gary
Afshar, Yalda
author_sort Imany-Shakibai, Helia
collection PubMed
description A six-fold increase in congenital heart defects (CHD) exists among monochorionic (MC) twins compared to singleton or dichorionic twin pregnancies. Though MC twins share an identical genotype, discordant phenotypes related to CHD and other malformations have been described, with reported rates of concordance for various congenital anomalies at less than 20%. Our objective was to characterize the frequency and spectrum of CHD in a contemporary cohort of MC twins, coupled with genetic and clinical variables to provide insight into risk factors and pathophysiology of discordant CHD in MC twins. Retrospective analysis of all twins receiving prenatal fetal echocardiography at a single institution from January 2010 –March 2020 (N = 163) yielded 23 MC twin pairs (46 neonates) with CHD (n = 5 concordant CHD, n = 18 discordant CHD). The most common lesions were septal defects (60% and 45.5% in concordant and discordant cohorts, respectively) and right heart lesions (40% and 18.2% in concordant and discordant cohorts, respectively). Diagnostic genetic testing was abnormal for 20% of the concordant and 5.6% of the discordant pairs, with no difference in rate of abnormal genetic results between the groups (p = 0.395). No significant association was found between clinical risk factors and development of discordant CHD (p>0.05). This data demonstrates the possibility of environmental and epigenetic influences versus genotypic factors in the development of discordant CHD in monochorionic twins.
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spelling pubmed-81019112021-05-17 Discordant congenital heart defects in monochorionic twins: Risk factors and proposed pathophysiology Imany-Shakibai, Helia Yin, Ophelia Russell, Matthew R. Sklansky, Mark Satou, Gary Afshar, Yalda PLoS One Research Article A six-fold increase in congenital heart defects (CHD) exists among monochorionic (MC) twins compared to singleton or dichorionic twin pregnancies. Though MC twins share an identical genotype, discordant phenotypes related to CHD and other malformations have been described, with reported rates of concordance for various congenital anomalies at less than 20%. Our objective was to characterize the frequency and spectrum of CHD in a contemporary cohort of MC twins, coupled with genetic and clinical variables to provide insight into risk factors and pathophysiology of discordant CHD in MC twins. Retrospective analysis of all twins receiving prenatal fetal echocardiography at a single institution from January 2010 –March 2020 (N = 163) yielded 23 MC twin pairs (46 neonates) with CHD (n = 5 concordant CHD, n = 18 discordant CHD). The most common lesions were septal defects (60% and 45.5% in concordant and discordant cohorts, respectively) and right heart lesions (40% and 18.2% in concordant and discordant cohorts, respectively). Diagnostic genetic testing was abnormal for 20% of the concordant and 5.6% of the discordant pairs, with no difference in rate of abnormal genetic results between the groups (p = 0.395). No significant association was found between clinical risk factors and development of discordant CHD (p>0.05). This data demonstrates the possibility of environmental and epigenetic influences versus genotypic factors in the development of discordant CHD in monochorionic twins. Public Library of Science 2021-05-06 /pmc/articles/PMC8101911/ /pubmed/33956871 http://dx.doi.org/10.1371/journal.pone.0251160 Text en © 2021 Imany-Shakibai et al https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Imany-Shakibai, Helia
Yin, Ophelia
Russell, Matthew R.
Sklansky, Mark
Satou, Gary
Afshar, Yalda
Discordant congenital heart defects in monochorionic twins: Risk factors and proposed pathophysiology
title Discordant congenital heart defects in monochorionic twins: Risk factors and proposed pathophysiology
title_full Discordant congenital heart defects in monochorionic twins: Risk factors and proposed pathophysiology
title_fullStr Discordant congenital heart defects in monochorionic twins: Risk factors and proposed pathophysiology
title_full_unstemmed Discordant congenital heart defects in monochorionic twins: Risk factors and proposed pathophysiology
title_short Discordant congenital heart defects in monochorionic twins: Risk factors and proposed pathophysiology
title_sort discordant congenital heart defects in monochorionic twins: risk factors and proposed pathophysiology
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8101911/
https://www.ncbi.nlm.nih.gov/pubmed/33956871
http://dx.doi.org/10.1371/journal.pone.0251160
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