Congenitally Corrected Transposition of the Great Arteries: Fetal Diagnosis, Associations, and Postnatal Outcome: A Fetal Heart Society Research Collaborative Study

Background Fetal diagnosis of congenitally corrected transposition of the great arteries (ccTGA) has been increasingly reported; however, predictors of clinical outcomes remain underexplored. We undertook a multicenter, retrospective study to investigate natural history, associated anomalies, and ou...

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Main Authors: Jennifer Cohen, Bhawna Arya, Richard Caplan, Mary T. Donofrio, Dina Ferdman, Jamie K. Harrington, Deborah Y. Ho, Whitnee Hogan, Lisa K. Hornberger, Simone Jhaveri, Stacy A. S. Killen, Christopher L. Lindblade, Erik Michelfelder, Anita J. Moon‐Grady, Sheetal Patel, Emilio Quezada, Christina Ronai, Aura A. Sanchez Mejia, David N. Schidlow, Corey Stiver, Varsha Thakur, Shubhika Srivastava
Format: Article
Language:English
Published: Wiley 2023-06-01
Series:Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
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Online Access:https://www.ahajournals.org/doi/10.1161/JAHA.122.029706
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author Jennifer Cohen
Bhawna Arya
Richard Caplan
Mary T. Donofrio
Dina Ferdman
Jamie K. Harrington
Deborah Y. Ho
Whitnee Hogan
Lisa K. Hornberger
Simone Jhaveri
Stacy A. S. Killen
Christopher L. Lindblade
Erik Michelfelder
Anita J. Moon‐Grady
Sheetal Patel
Emilio Quezada
Christina Ronai
Aura A. Sanchez Mejia
David N. Schidlow
Corey Stiver
Varsha Thakur
Shubhika Srivastava
author_facet Jennifer Cohen
Bhawna Arya
Richard Caplan
Mary T. Donofrio
Dina Ferdman
Jamie K. Harrington
Deborah Y. Ho
Whitnee Hogan
Lisa K. Hornberger
Simone Jhaveri
Stacy A. S. Killen
Christopher L. Lindblade
Erik Michelfelder
Anita J. Moon‐Grady
Sheetal Patel
Emilio Quezada
Christina Ronai
Aura A. Sanchez Mejia
David N. Schidlow
Corey Stiver
Varsha Thakur
Shubhika Srivastava
author_sort Jennifer Cohen
collection DOAJ
description Background Fetal diagnosis of congenitally corrected transposition of the great arteries (ccTGA) has been increasingly reported; however, predictors of clinical outcomes remain underexplored. We undertook a multicenter, retrospective study to investigate natural history, associated anomalies, and outcomes of fetal ccTGA. Methods and Results Fetuses with ccTGA diagnosed from January 2004 to July 2020 within 20 North American programs were included. Fetuses with severe ventricular hypoplasia thought to definitively preclude biventricular repair were excluded. We included 205 fetuses diagnosed with ccTGA at a median gestational age of 23 (interquartile range, 21–27) weeks. Genetic abnormalities were found in 5.9% tested, with extracardiac anomalies in 6.3%. Associated cardiac defects were diagnosed in 161 (78.5%), with atrioventricular block in 23 (11.3%). On serial fetal echocardiogram, 39% demonstrated a functional or anatomic change, most commonly increased tricuspid regurgitation (6.7%) or pulmonary outflow obstruction (11.1%). Of 194 fetuses with follow‐up, 26 were terminated, 3 experienced fetal death (2 with atrioventricular block), and 165 were live‐born. Of 158 with postnatal data (median follow‐up 3.7 years), 10 (6.6%) had death/transplant before 1 year. On univariable analysis, fetal factors associated with fetal death or death/transplant by 1 year included ≥ mild tricuspid regurgitation, pulmonary atresia, aortic obstruction, fetal arrhythmia, and worsening hemodynamics on serial fetal echocardiogram (defined as worse right ventricular function, tricuspid regurgitation, or effusion). Conclusions Associated cardiac lesions and arrhythmias are common in fetal ccTGA, and functional changes commonly occur through gestation. Worse outcomes are associated with fetal tricuspid regurgitation (≥mild), any arrhythmia, pulmonary atresia, aortic obstruction, and worsening hemodynamics on serial echocardiograms. These findings can inform prenatal counseling and perinatal management planning.
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spelling doaj-art-b11e0420c7504f6d9a030ea8cd0be2632025-08-20T01:51:27ZengWileyJournal of the American Heart Association: Cardiovascular and Cerebrovascular Disease2047-99802023-06-01121110.1161/JAHA.122.029706Congenitally Corrected Transposition of the Great Arteries: Fetal Diagnosis, Associations, and Postnatal Outcome: A Fetal Heart Society Research Collaborative StudyJennifer Cohen0Bhawna Arya1Richard Caplan2Mary T. Donofrio3Dina Ferdman4Jamie K. Harrington5Deborah Y. Ho6Whitnee Hogan7Lisa K. Hornberger8Simone Jhaveri9Stacy A. S. Killen10Christopher L. Lindblade11Erik Michelfelder12Anita J. Moon‐Grady13Sheetal Patel14Emilio Quezada15Christina Ronai16Aura A. Sanchez Mejia17David N. Schidlow18Corey Stiver19Varsha Thakur20Shubhika Srivastava21Icahn School of Medicine at Mount Sinai New York NYSeattle Children’s Hospital WA SeattleChristiana Care Health System Wilmington DEChildren’s National Hospital DC WashingtonYale School of Medicine New Haven CTColumbia University Medical Center New York NYStanford School of Medicine, Lucile Packard Children’s Hospital CA Palo AltoUniversity of Utah Salt Lake City UTUniversity of Alberta Edmonton Alberta CanadaNorthwell Health Physician Partners New Hyde Park NYVanderbuilt University Medical Center Nashville TNPhoenix Children’s Hospital Phoenix AZEmory University/Children’s Healthcare of Atlanta Atlanta GAUniversity of California San Francisco CAAnn & Robert H Lurie Children’s Hospital of Chicago, Northwestern University Feinberg School of Medicine Chicago ILUniversity of California San Francisco CAOregon Health & Science University Portland ORTexas Children’s Hospital Houston TXBoston Children’s Hospital Boston MANationwide Children’s Hospital Columbus OHThe Hospital for Sick Children Toronto ONNemours Childrens Health System Wilmington DEBackground Fetal diagnosis of congenitally corrected transposition of the great arteries (ccTGA) has been increasingly reported; however, predictors of clinical outcomes remain underexplored. We undertook a multicenter, retrospective study to investigate natural history, associated anomalies, and outcomes of fetal ccTGA. Methods and Results Fetuses with ccTGA diagnosed from January 2004 to July 2020 within 20 North American programs were included. Fetuses with severe ventricular hypoplasia thought to definitively preclude biventricular repair were excluded. We included 205 fetuses diagnosed with ccTGA at a median gestational age of 23 (interquartile range, 21–27) weeks. Genetic abnormalities were found in 5.9% tested, with extracardiac anomalies in 6.3%. Associated cardiac defects were diagnosed in 161 (78.5%), with atrioventricular block in 23 (11.3%). On serial fetal echocardiogram, 39% demonstrated a functional or anatomic change, most commonly increased tricuspid regurgitation (6.7%) or pulmonary outflow obstruction (11.1%). Of 194 fetuses with follow‐up, 26 were terminated, 3 experienced fetal death (2 with atrioventricular block), and 165 were live‐born. Of 158 with postnatal data (median follow‐up 3.7 years), 10 (6.6%) had death/transplant before 1 year. On univariable analysis, fetal factors associated with fetal death or death/transplant by 1 year included ≥ mild tricuspid regurgitation, pulmonary atresia, aortic obstruction, fetal arrhythmia, and worsening hemodynamics on serial fetal echocardiogram (defined as worse right ventricular function, tricuspid regurgitation, or effusion). Conclusions Associated cardiac lesions and arrhythmias are common in fetal ccTGA, and functional changes commonly occur through gestation. Worse outcomes are associated with fetal tricuspid regurgitation (≥mild), any arrhythmia, pulmonary atresia, aortic obstruction, and worsening hemodynamics on serial echocardiograms. These findings can inform prenatal counseling and perinatal management planning.https://www.ahajournals.org/doi/10.1161/JAHA.122.029706atrioventricular blockcongenitally corrected transposition of the great arteriesfetal echocardiographysitus inversus
spellingShingle Jennifer Cohen
Bhawna Arya
Richard Caplan
Mary T. Donofrio
Dina Ferdman
Jamie K. Harrington
Deborah Y. Ho
Whitnee Hogan
Lisa K. Hornberger
Simone Jhaveri
Stacy A. S. Killen
Christopher L. Lindblade
Erik Michelfelder
Anita J. Moon‐Grady
Sheetal Patel
Emilio Quezada
Christina Ronai
Aura A. Sanchez Mejia
David N. Schidlow
Corey Stiver
Varsha Thakur
Shubhika Srivastava
Congenitally Corrected Transposition of the Great Arteries: Fetal Diagnosis, Associations, and Postnatal Outcome: A Fetal Heart Society Research Collaborative Study
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
atrioventricular block
congenitally corrected transposition of the great arteries
fetal echocardiography
situs inversus
title Congenitally Corrected Transposition of the Great Arteries: Fetal Diagnosis, Associations, and Postnatal Outcome: A Fetal Heart Society Research Collaborative Study
title_full Congenitally Corrected Transposition of the Great Arteries: Fetal Diagnosis, Associations, and Postnatal Outcome: A Fetal Heart Society Research Collaborative Study
title_fullStr Congenitally Corrected Transposition of the Great Arteries: Fetal Diagnosis, Associations, and Postnatal Outcome: A Fetal Heart Society Research Collaborative Study
title_full_unstemmed Congenitally Corrected Transposition of the Great Arteries: Fetal Diagnosis, Associations, and Postnatal Outcome: A Fetal Heart Society Research Collaborative Study
title_short Congenitally Corrected Transposition of the Great Arteries: Fetal Diagnosis, Associations, and Postnatal Outcome: A Fetal Heart Society Research Collaborative Study
title_sort congenitally corrected transposition of the great arteries fetal diagnosis associations and postnatal outcome a fetal heart society research collaborative study
topic atrioventricular block
congenitally corrected transposition of the great arteries
fetal echocardiography
situs inversus
url https://www.ahajournals.org/doi/10.1161/JAHA.122.029706
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